subject_id	subject_label	predicate_id	object_id	object_label	mapping_justification
MONDO:0000001	disease	oboInOwl:hasDbXref	Orphanet:377788	Disease	semapv:ManualMappingCuration
MONDO:0000023	infantile liver failure	oboInOwl:hasDbXref	Orphanet:464724	Fever-associated acute infantile liver failure syndrome	semapv:ManualMappingCuration
MONDO:0000044	hereditary hypophosphatemic rickets	oboInOwl:hasDbXref	Orphanet:437	Hypophosphatemic rickets	semapv:ManualMappingCuration
MONDO:0000050	isolated congenital growth hormone deficiency	oboInOwl:hasDbXref	Orphanet:631	Non-acquired isolated growth hormone deficiency	semapv:ManualMappingCuration
MONDO:0000087	polymicrogyria	oboInOwl:hasDbXref	Orphanet:35981	Polymicrogyria	semapv:ManualMappingCuration
MONDO:0000088	precocious puberty	oboInOwl:hasDbXref	Orphanet:95708	Rare precocious puberty	semapv:ManualMappingCuration
MONDO:0000107	auriculocondylar syndrome	oboInOwl:hasDbXref	Orphanet:137888	Auriculocondylar syndrome	semapv:ManualMappingCuration
MONDO:0000110	bifid nose	oboInOwl:hasDbXref	Orphanet:2695	Bifid nose	semapv:ManualMappingCuration
MONDO:0000127	geleophysic dysplasia	oboInOwl:hasDbXref	Orphanet:2623	Geleophysic dysplasia	semapv:ManualMappingCuration
MONDO:0000133	immunodeficiency-centromeric instability-facial anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2268	ICF syndrome	semapv:ManualMappingCuration
MONDO:0000136	keratosis follicularis spinulosa decalvans	oboInOwl:hasDbXref	Orphanet:2340	Keratosis follicularis spinulosa decalvans	semapv:ManualMappingCuration
MONDO:0000141	mosaic variegated aneuploidy syndrome	oboInOwl:hasDbXref	Orphanet:1052	Mosaic variegated aneuploidy syndrome	semapv:ManualMappingCuration
MONDO:0000153	transposition of the great arteries	oboInOwl:hasDbXref	Orphanet:216675	Transposition of the great arteries	semapv:ManualMappingCuration
MONDO:0000170	microphthalmia, isolated, with coloboma	oboInOwl:hasDbXref	Orphanet:98938	Colobomatous microphthalmia	semapv:ManualMappingCuration
MONDO:0000171	muscular dystrophy-dystroglycanopathy, type A	oboInOwl:hasDbXref	Orphanet:899	Walker-Warburg syndrome	semapv:ManualMappingCuration
MONDO:0000179	Neu-Laxova syndrome	oboInOwl:hasDbXref	Orphanet:2671	Neu-Laxova syndrome	semapv:ManualMappingCuration
MONDO:0000193	cortisone reductase deficiency	oboInOwl:hasDbXref	Orphanet:168588	Hyperandrogenism due to cortisone reductase deficiency	semapv:ManualMappingCuration
MONDO:0000200	Zimmermann-Laband syndrome	oboInOwl:hasDbXref	Orphanet:3473	Zimmermann-Laband syndrome	semapv:ManualMappingCuration
MONDO:0000209	prenatal-onset spinal muscular atrophy with congenital bone fractures	oboInOwl:hasDbXref	Orphanet:486811	Prenatal-onset spinal muscular atrophy with congenital bone fractures	semapv:ManualMappingCuration
MONDO:0000211	striatal degeneration, autosomal dominant	oboInOwl:hasDbXref	Orphanet:228169	Autosomal dominant striatal neurodegeneration	semapv:ManualMappingCuration
MONDO:0000212	hypercalcemia, infantile	oboInOwl:hasDbXref	Orphanet:300547	Autosomal recessive infantile hypercalcemia	semapv:ManualMappingCuration
MONDO:0000229	Indian tick typhus	oboInOwl:hasDbXref	Orphanet:101335	OBSOLETE: Indian tick typhus	semapv:ManualMappingCuration
MONDO:0000330	endemic typhus	oboInOwl:hasDbXref	Orphanet:83315	Murine typhus	semapv:ManualMappingCuration
MONDO:0000355	Ullrich congenital muscular dystrophy	oboInOwl:hasDbXref	Orphanet:75840	Ullrich congenital muscular dystrophy	semapv:ManualMappingCuration
MONDO:0000437	cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:102002	Rare ataxia	semapv:ManualMappingCuration
MONDO:0000447	autosomal dominant polycystic liver disease	oboInOwl:hasDbXref	Orphanet:2924	Isolated polycystic liver disease	semapv:ManualMappingCuration
MONDO:0000453	short QT syndrome	oboInOwl:hasDbXref	Orphanet:51083	Familial short QT syndrome	semapv:ManualMappingCuration
MONDO:0000455	cone dystrophy	oboInOwl:hasDbXref	Orphanet:1871	Progressive cone dystrophy	semapv:ManualMappingCuration
MONDO:0000456	cerebral creatine deficiency syndrome	oboInOwl:hasDbXref	Orphanet:79172	Creatine deficiency syndrome	semapv:ManualMappingCuration
MONDO:0000463	Ochoa syndrome	oboInOwl:hasDbXref	Orphanet:2704	Urofacial syndrome	semapv:ManualMappingCuration
MONDO:0000476	generalized dystonia	oboInOwl:hasDbXref	Orphanet:376724	Generalized isolated dystonia	semapv:ManualMappingCuration
MONDO:0000481	cervical dystonia	oboInOwl:hasDbXref	Orphanet:93962	OBSOLETE: Cervical dystonia	semapv:ManualMappingCuration
MONDO:0000485	spasmodic dystonia	oboInOwl:hasDbXref	Orphanet:93961	OBSOLETE: Laryngeal dyskinesia	semapv:ManualMappingCuration
MONDO:0000499	non-arteritic anterior ischemic optic neuropathy	oboInOwl:hasDbXref	Orphanet:415300	NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy	semapv:ManualMappingCuration
MONDO:0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	oboInOwl:hasDbXref	Orphanet:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	semapv:ManualMappingCuration
MONDO:0000565	infective endocarditis	oboInOwl:hasDbXref	Orphanet:570762	Infective endocarditis	semapv:ManualMappingCuration
MONDO:0000645	fallopian tube benign neoplasm	oboInOwl:hasDbXref	Orphanet:180237	Benign tumor of fallopian tubes	semapv:ManualMappingCuration
MONDO:0000688	inborn organic aciduria	oboInOwl:hasDbXref	Orphanet:289899	Organic aciduria	semapv:ManualMappingCuration
MONDO:0000698	gamma-amino butyric acid metabolism disorder	oboInOwl:hasDbXref	Orphanet:79175	Disorder of gamma-aminobutyric acid metabolism	semapv:ManualMappingCuration
MONDO:0000702	microscopic colitis	oboInOwl:hasDbXref	Orphanet:58220	OBSOLETE: Microscopic colitis	semapv:ManualMappingCuration
MONDO:0000703	collagenous colitis	oboInOwl:hasDbXref	Orphanet:36205	OBSOLETE: Collagenous colitis	semapv:ManualMappingCuration
MONDO:0000704	lymphocytic colitis	oboInOwl:hasDbXref	Orphanet:65279	OBSOLETE: Lymphocytic colitis	semapv:ManualMappingCuration
MONDO:0000724	specific language impairment	oboInOwl:hasDbXref	Orphanet:458713	NON RARE IN EUROPE: Specific language impairment	semapv:ManualMappingCuration
MONDO:0000733	cornea plana	oboInOwl:hasDbXref	Orphanet:53691	Congenital cornea plana	semapv:ManualMappingCuration
MONDO:0000736	dyschromatosis universalis hereditaria	oboInOwl:hasDbXref	Orphanet:241	Dyschromatosis universalis hereditaria	semapv:ManualMappingCuration
MONDO:0000754	anal fistula	oboInOwl:hasDbXref	Orphanet:228113	Anal fistula	semapv:ManualMappingCuration
MONDO:0000816	abdominal obesity-metabolic syndrome	oboInOwl:hasDbXref	Orphanet:411969	NON RARE IN EUROPE: Metabolic syndrome	semapv:ManualMappingCuration
MONDO:0000820	cerebral cavernous malformation	oboInOwl:hasDbXref	Orphanet:164	NON RARE IN EUROPE: Cerebral cavernous malformations	semapv:ManualMappingCuration
MONDO:0000827	salmonellosis	oboInOwl:hasDbXref	Orphanet:795	Rare form of salmonellosis	semapv:ManualMappingCuration
MONDO:0000845	fibrous dysplasia	oboInOwl:hasDbXref	Orphanet:249	Fibrous dysplasia of bone	semapv:ManualMappingCuration
MONDO:0000859	spina bifida occulta	oboInOwl:hasDbXref	Orphanet:645202	Closed spinal dysraphism	semapv:ManualMappingCuration
MONDO:0000863	myopathy, lactic acidosis, and sideroblastic anemia	oboInOwl:hasDbXref	Orphanet:2598	Mitochondrial myopathy and sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0000902	agenesis of the corpus callosum with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:1496	Corpus callosum agenesis-neuronopathy syndrome	semapv:ManualMappingCuration
MONDO:0000903	myoclonus-dystonia syndrome	oboInOwl:hasDbXref	Orphanet:36899	Myoclonus-dystonia syndrome	semapv:ManualMappingCuration
MONDO:0000914	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	oboInOwl:hasDbXref	Orphanet:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0000995	familial periodic paralysis	oboInOwl:hasDbXref	Orphanet:371433	Genetic periodic paralysis	semapv:ManualMappingCuration
MONDO:0001029	Klippel-Feil syndrome	oboInOwl:hasDbXref	Orphanet:2345	Isolated Klippel-Feil syndrome	semapv:ManualMappingCuration
MONDO:0001032	Mooren ulcer	oboInOwl:hasDbXref	Orphanet:519408	Mooren ulcer	semapv:ManualMappingCuration
MONDO:0001071	intellectual disability	oboInOwl:hasDbXref	Orphanet:319658	NON RARE IN EUROPE: Unexplained intellectual disability	semapv:ManualMappingCuration
MONDO:0001134	essential hypertension	oboInOwl:hasDbXref	Orphanet:243761	NON RARE IN EUROPE: Essential hypertension	semapv:ManualMappingCuration
MONDO:0001147	meningocele	oboInOwl:hasDbXref	Orphanet:93968	Meningocele	semapv:ManualMappingCuration
MONDO:0001153	obsolete gender dysphoria	oboInOwl:hasDbXref	Orphanet:459690	NON RARE IN EUROPE: Gender dysphoria	semapv:ManualMappingCuration
MONDO:0001187	urinary bladder cancer	oboInOwl:hasDbXref	Orphanet:157980	NON RARE IN EUROPE: Bladder cancer	semapv:ManualMappingCuration
MONDO:0001195	spotted fever	oboInOwl:hasDbXref	Orphanet:102022	Spotted fever rickettsiosis	semapv:ManualMappingCuration
MONDO:0001246	typhus	oboInOwl:hasDbXref	Orphanet:102023	Typhus-group rickettsiosis	semapv:ManualMappingCuration
MONDO:0001280	choroiditis	oboInOwl:hasDbXref	Orphanet:280892	Posterior uveitis	semapv:ManualMappingCuration
MONDO:0001309	oculomotor nerve paralysis	oboInOwl:hasDbXref	Orphanet:98685	Rare oculomotor nerve disorder	semapv:ManualMappingCuration
MONDO:0001325	penile cancer	oboInOwl:hasDbXref	Orphanet:398043	Malignant tumor of penis	semapv:ManualMappingCuration
MONDO:0001341	selective IgA deficiency disease	oboInOwl:hasDbXref	Orphanet:69127	NON RARE IN EUROPE: Immunoglobulin A deficiency	semapv:ManualMappingCuration
MONDO:0001347	facioscapulohumeral muscular dystrophy	oboInOwl:hasDbXref	Orphanet:269	Facioscapulohumeral dystrophy	semapv:ManualMappingCuration
MONDO:0001444	Chagas disease	oboInOwl:hasDbXref	Orphanet:3386	American trypanosomiasis	semapv:ManualMappingCuration
MONDO:0001476	coloboma	oboInOwl:hasDbXref	Orphanet:194	OBSOLETE: Ocular coloboma	semapv:ManualMappingCuration
MONDO:0001549	hemolytic-uremic syndrome	oboInOwl:hasDbXref	Orphanet:544458	Hemolytic uremic syndrome	semapv:ManualMappingCuration
MONDO:0001569	acoustic neuroma	oboInOwl:hasDbXref	Orphanet:252175	Vestibular schwannoma	semapv:ManualMappingCuration
MONDO:0001586	mucopolysaccharidosis type 1	oboInOwl:hasDbXref	Orphanet:579	Mucopolysaccharidosis type 1	semapv:ManualMappingCuration
MONDO:0001595	choreatic disease	oboInOwl:hasDbXref	Orphanet:1429	Benign hereditary chorea	semapv:ManualMappingCuration
MONDO:0001633	central retinal artery occlusion	oboInOwl:hasDbXref	Orphanet:648684	Central retinal artery occlusion	semapv:ManualMappingCuration
MONDO:0001676	erythropoietic protoporphyria	oboInOwl:hasDbXref	Orphanet:659681	Erythropoietic porphyria	semapv:ManualMappingCuration
MONDO:0001703	color vision disorder	oboInOwl:hasDbXref	Orphanet:98658	Color-vision disease	semapv:ManualMappingCuration
MONDO:0001713	inherited aplastic anemia	oboInOwl:hasDbXref	Orphanet:68383	Rare constitutional aplastic anemia	semapv:ManualMappingCuration
MONDO:0001734	tuberous sclerosis	oboInOwl:hasDbXref	Orphanet:805	Tuberous sclerosis complex	semapv:ManualMappingCuration
MONDO:0001790	spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645276	Spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0001807	obsolete familial combined hyperlipidemia	oboInOwl:hasDbXref	Orphanet:79211	OBSOLETE: Combined hyperlipidemia	semapv:ManualMappingCuration
MONDO:0001881	toxic shock syndrome	oboInOwl:hasDbXref	Orphanet:36234	Bacterial toxic-shock syndrome	semapv:ManualMappingCuration
MONDO:0001945	postencephalitic Parkinson disease	oboInOwl:hasDbXref	Orphanet:97349	Postencephalitic parkinsonism	semapv:ManualMappingCuration
MONDO:0001956	capillary leak syndrome	oboInOwl:hasDbXref	Orphanet:188	Systemic capillary leak syndrome	semapv:ManualMappingCuration
MONDO:0001971	farmer's lung disease	oboInOwl:hasDbXref	Orphanet:99906	OBSOLETE: Farmer's lung disease	semapv:ManualMappingCuration
MONDO:0002010	FG syndrome	oboInOwl:hasDbXref	Orphanet:323	NON RARE IN EUROPE: FG syndrome phenotypic spectrum	semapv:ManualMappingCuration
MONDO:0002013	lymphangioma	oboInOwl:hasDbXref	Orphanet:2415	Rare lymphatic malformation	semapv:ManualMappingCuration
MONDO:0002070	ventricular septal defect	oboInOwl:hasDbXref	Orphanet:1480	NON RARE IN EUROPE: Ventricular septal defect	semapv:ManualMappingCuration
MONDO:0002095	vascular cancer	oboInOwl:hasDbXref	Orphanet:673466	Malignant vascular tumor	semapv:ManualMappingCuration
MONDO:0002096	malignant conjunctival melanoma	oboInOwl:hasDbXref	Orphanet:617910	Conjunctival malignant melanoma	semapv:ManualMappingCuration
MONDO:0002142	undifferentiated pleomorphic sarcoma	oboInOwl:hasDbXref	Orphanet:2023	Undifferentiated pleomorphic sarcoma	semapv:ManualMappingCuration
MONDO:0002145	disorder of sexual differentiation	oboInOwl:hasDbXref	Orphanet:90771	Difference of sex development	semapv:ManualMappingCuration
MONDO:0002158	fallopian tube cancer	oboInOwl:hasDbXref	Orphanet:180242	Malignant tumor of fallopian tubes	semapv:ManualMappingCuration
MONDO:0002235	eyelid neoplasm	oboInOwl:hasDbXref	Orphanet:98580	OBSOLETE: Palpebral tumor	semapv:ManualMappingCuration
MONDO:0002303	central retinal vein occlusion	oboInOwl:hasDbXref	Orphanet:411527	Central retinal vein occlusion	semapv:ManualMappingCuration
MONDO:0002305	thrombophilia	oboInOwl:hasDbXref	Orphanet:64738	NON RARE IN EUROPE: Non rare thrombophilia	semapv:ManualMappingCuration
MONDO:0002412	disorder of glycogen metabolism	oboInOwl:hasDbXref	Orphanet:79201	Glycogen storage disease	semapv:ManualMappingCuration
MONDO:0002413	glycogen storage disease I	oboInOwl:hasDbXref	Orphanet:364	Glycogen storage disease due to glucose-6-phosphatase deficiency	semapv:ManualMappingCuration
MONDO:0002422	adamantinoma	oboInOwl:hasDbXref	Orphanet:55881	Adamantinoma	semapv:ManualMappingCuration
MONDO:0002429	idiopathic interstitial pneumonia	oboInOwl:hasDbXref	Orphanet:98300	Idiopathic interstitial pneumonia	semapv:ManualMappingCuration
MONDO:0002441	Jervell and Lange-Nielsen syndrome	oboInOwl:hasDbXref	Orphanet:90647	Jervell and Lange-Nielsen syndrome	semapv:ManualMappingCuration
MONDO:0002457	Treacher-Collins syndrome	oboInOwl:hasDbXref	Orphanet:861	Treacher-Collins syndrome	semapv:ManualMappingCuration
MONDO:0002470	photosensitive trichothiodystrophy	oboInOwl:hasDbXref	Orphanet:453	IBIDS syndrome	semapv:ManualMappingCuration
MONDO:0002474	primary hyperoxaluria	oboInOwl:hasDbXref	Orphanet:416	Primary hyperoxaluria	semapv:ManualMappingCuration
MONDO:0002520	hepatic porphyria	oboInOwl:hasDbXref	Orphanet:659694	Hepatic porphyria	semapv:ManualMappingCuration
MONDO:0002525	inherited lipid metabolism disorder	oboInOwl:hasDbXref	Orphanet:309005	Disorder of lipid metabolism	semapv:ManualMappingCuration
MONDO:0002546	schwannoma	oboInOwl:hasDbXref	Orphanet:252164	Benign schwannoma	semapv:ManualMappingCuration
MONDO:0002561	lysosomal storage disease	oboInOwl:hasDbXref	Orphanet:68366	Lysosomal disease	semapv:ManualMappingCuration
MONDO:0002571	primary central nervous system lymphoma	oboInOwl:hasDbXref	Orphanet:46135	Primary central nervous system lymphoma	semapv:ManualMappingCuration
MONDO:0002588	thymoma type A	oboInOwl:hasDbXref	Orphanet:263310	Thymoma type A	semapv:ManualMappingCuration
MONDO:0002629	bone osteosarcoma	oboInOwl:hasDbXref	Orphanet:668	Osteosarcoma	semapv:ManualMappingCuration
MONDO:0002644	idiopathic granulomatous myositis	oboInOwl:hasDbXref	Orphanet:206979	OBSOLETE: Granulomatous myositis	semapv:ManualMappingCuration
MONDO:0002653	Paget disease of the penis	oboInOwl:hasDbXref	Orphanet:398053	Adenocarcinoma of the penis	semapv:ManualMappingCuration
MONDO:0002684	atypical choroid plexus papilloma	oboInOwl:hasDbXref	Orphanet:251902	Atypical papilloma of choroid plexus	semapv:ManualMappingCuration
MONDO:0002687	superior mesenteric artery syndrome	oboInOwl:hasDbXref	Orphanet:622099	Superior mesenteric artery syndrome	semapv:ManualMappingCuration
MONDO:0002697	ovarian gonadoblastoma	oboInOwl:hasDbXref	Orphanet:206484	Gonadoblastoma	semapv:ManualMappingCuration
MONDO:0002718	central nervous system teratoma	oboInOwl:hasDbXref	Orphanet:252018	Teratoma of the central nervous system	semapv:ManualMappingCuration
MONDO:0002728	rhabdoid tumor	oboInOwl:hasDbXref	Orphanet:69077	Rhabdoid tumor	semapv:ManualMappingCuration
MONDO:0002735	anal canal adenocarcinoma	oboInOwl:hasDbXref	Orphanet:424016	Adenocarcinoma of the anal canal	semapv:ManualMappingCuration
MONDO:0002752	ovarian adenocarcinoma	oboInOwl:hasDbXref	Orphanet:213504	Adenocarcinoma of ovary	semapv:ManualMappingCuration
MONDO:0002876	cervical adenosarcoma	oboInOwl:hasDbXref	Orphanet:213792	Adenosarcoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0002877	cervical carcinosarcoma	oboInOwl:hasDbXref	Orphanet:213787	Carcinosarcoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0002878	uterine corpus adenosarcoma	oboInOwl:hasDbXref	Orphanet:213600	Adenosarcoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0002882	colon neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:100080	Neuroendocrine tumor of the colon	semapv:ManualMappingCuration
MONDO:0002955	vulva basal cell carcinoma	oboInOwl:hasDbXref	Orphanet:494451	Vulvar basal cell carcinoma	semapv:ManualMappingCuration
MONDO:0003010	multilocular clear cell renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:319287	Multilocular cystic renal neoplasm of low malignant potential	semapv:ManualMappingCuration
MONDO:0003011	mucinous tubular and spindle renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:319322	Mucinous tubular and spindle cell renal carcinoma	semapv:ManualMappingCuration
MONDO:0003111	gastric neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:100075	Neuroendocrine tumor of stomach	semapv:ManualMappingCuration
MONDO:0003125	testicular sex cord-stromal neoplasm	oboInOwl:hasDbXref	Orphanet:363489	Sex cord-stromal tumor of testis	semapv:ManualMappingCuration
MONDO:0003144	medulloepithelioma	oboInOwl:hasDbXref	Orphanet:251883	Medulloepithelioma of the central nervous system	semapv:ManualMappingCuration
MONDO:0003198	small intestine adenocarcinoma	oboInOwl:hasDbXref	Orphanet:104075	Adenocarcinoma of the small intestine	semapv:ManualMappingCuration
MONDO:0003233	essential tremor	oboInOwl:hasDbXref	Orphanet:862	NON RARE IN EUROPE: Hereditary essential tremor	semapv:ManualMappingCuration
MONDO:0003258	hobnail hemangioma	oboInOwl:hasDbXref	Orphanet:675362	Hobnail hemangioma	semapv:ManualMappingCuration
MONDO:0003266	ependymal tumor	oboInOwl:hasDbXref	Orphanet:301	Ependymal tumor	semapv:ManualMappingCuration
MONDO:0003345	hilar cholangiocarcinoma	oboInOwl:hasDbXref	Orphanet:99978	Klatskin tumor	semapv:ManualMappingCuration
MONDO:0003360	small intestine leiomyosarcoma	oboInOwl:hasDbXref	Orphanet:104076	Leiomyosarcoma of small intestine	semapv:ManualMappingCuration
MONDO:0003414	skin pilomatrix carcinoma	oboInOwl:hasDbXref	Orphanet:499182	Pilomatrix carcinoma	semapv:ManualMappingCuration
MONDO:0003429	functioning pituitary gland adenoma	oboInOwl:hasDbXref	Orphanet:314753	Functioning pituitary adenoma	semapv:ManualMappingCuration
MONDO:0003582	hereditary breast ovarian cancer syndrome	oboInOwl:hasDbXref	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome	semapv:ManualMappingCuration
MONDO:0003630	pancreatic serous cystadenocarcinoma	oboInOwl:hasDbXref	Orphanet:424073	Serous cystadenocarcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0003646	rectum neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:100081	Neuroendocrine tumor of the rectum	semapv:ManualMappingCuration
MONDO:0003649	esophageal neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:506136	Neuroendocrine neoplasm of esophagus	semapv:ManualMappingCuration
MONDO:0003669	testicular seminoma	oboInOwl:hasDbXref	Orphanet:842	Testicular seminomatous germ cell tumor	semapv:ManualMappingCuration
MONDO:0003778	inborn error of immunity	oboInOwl:hasDbXref	Orphanet:101997	Primary immunodeficiency	semapv:ManualMappingCuration
MONDO:0003789	hereditary papillary renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:47044	Hereditary papillary renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0003792	ovarian carcinosarcoma	oboInOwl:hasDbXref	Orphanet:213512	Malignant mixed Müllerian tumor of the ovary	semapv:ManualMappingCuration
MONDO:0003795	ovarian small cell carcinoma	oboInOwl:hasDbXref	Orphanet:370396	Small cell carcinoma of the ovary	semapv:ManualMappingCuration
MONDO:0003832	complement deficiency	oboInOwl:hasDbXref	Orphanet:459345	Immunodeficiency due to a complement cascade component deficiency	semapv:ManualMappingCuration
MONDO:0003924	adrenal cortex adenoma	oboInOwl:hasDbXref	Orphanet:99888	NON RARE IN EUROPE: Adrenocortical adenoma	semapv:ManualMappingCuration
MONDO:0003999	juvenile pilocytic astrocytoma	oboInOwl:hasDbXref	Orphanet:673580	Classic pilocytic astrocytoma	semapv:ManualMappingCuration
MONDO:0004069	inborn mitochondrial metabolism disorder	oboInOwl:hasDbXref	Orphanet:68380	Mitochondrial disease	semapv:ManualMappingCuration
MONDO:0004114	urinary bladder small cell neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:284400	Small cell carcinoma of the bladder	semapv:ManualMappingCuration
MONDO:0004132	anal canal squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:424019	Squamous cell carcinoma of the anal canal	semapv:ManualMappingCuration
MONDO:0004150	breast giant fibroadenoma	oboInOwl:hasDbXref	Orphanet:180267	Giant adenofibroma of the breast	semapv:ManualMappingCuration
MONDO:0004187	nodular fasciitis	oboInOwl:hasDbXref	Orphanet:477742	Nodular fasciitis	semapv:ManualMappingCuration
MONDO:0004216	pineal region germinoma	oboInOwl:hasDbXref	Orphanet:91352	Germinoma of the central nervous system	semapv:ManualMappingCuration
MONDO:0004234	chronic lymphoproliferative disorder of NK-cells	oboInOwl:hasDbXref	Orphanet:512017	Chronic lymphoproliferative disorder of natural killer cells	semapv:ManualMappingCuration
MONDO:0004241	Osgood-Schlatter disease	oboInOwl:hasDbXref	Orphanet:97335	Osgood-Schlatter disease	semapv:ManualMappingCuration
MONDO:0004277	gonorrhea	oboInOwl:hasDbXref	Orphanet:100642	NON RARE IN EUROPE: Gonorrhea	semapv:ManualMappingCuration
MONDO:0004285	pancreatic intraductal papillary-mucinous carcinoma	oboInOwl:hasDbXref	Orphanet:424058	Intraductal papillary mucinous carcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0004334	non-functional pancreatic neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:506075	Non-functioning neuroendocrine tumor of pancreas	semapv:ManualMappingCuration
MONDO:0004351	intraocular lymphoma	oboInOwl:hasDbXref	Orphanet:279904	Primary intraocular lymphoma	semapv:ManualMappingCuration
MONDO:0004380	dendritic cell sarcoma	oboInOwl:hasDbXref	Orphanet:86903	Dendritic cell sarcoma not otherwise specified	semapv:ManualMappingCuration
MONDO:0004542	cervical adenosquamous carcinoma, glassy cell variant	oboInOwl:hasDbXref	Orphanet:213833	Glassy cell carcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0004604	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	oboInOwl:hasDbXref	Orphanet:98845	Classic Hodgkin lymphoma, lymphocyte-rich type	semapv:ManualMappingCuration
MONDO:0004620	Hodgkin's lymphoma, lymphocytic depletion	oboInOwl:hasDbXref	Orphanet:98846	Classic Hodgkin lymphoma, lymphocyte-depleted type	semapv:ManualMappingCuration
MONDO:0004633	Hodgkin's lymphoma, mixed cellularity	oboInOwl:hasDbXref	Orphanet:98844	Classic Hodgkin lymphoma, mixed cellularity type	semapv:ManualMappingCuration
MONDO:0004653	atypical chronic myeloid leukemia, BCR-ABL1 negative	oboInOwl:hasDbXref	Orphanet:98824	Atypical chronic myeloid leukemia	semapv:ManualMappingCuration
MONDO:0004665	nodular sclerosis classical Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:98843	Classic Hodgkin lymphoma, nodular sclerosis type	semapv:ManualMappingCuration
MONDO:0004672	fasciolopsiasis	oboInOwl:hasDbXref	Orphanet:658909	Fasciolopsiasis	semapv:ManualMappingCuration
MONDO:0004684	plantar fibromatosis	oboInOwl:hasDbXref	Orphanet:199251	Ledderhose disease	semapv:ManualMappingCuration
MONDO:0004691	autosomal dominant polycystic kidney disease	oboInOwl:hasDbXref	Orphanet:730	Autosomal dominant polycystic kidney disease	semapv:ManualMappingCuration
MONDO:0004739	urea cycle disorder	oboInOwl:hasDbXref	Orphanet:79167	Disorder of urea cycle metabolism and ammonia detoxification	semapv:ManualMappingCuration
MONDO:0004745	priapism	oboInOwl:hasDbXref	Orphanet:140949	Low-flow priapism	semapv:ManualMappingCuration
MONDO:0004772	glaucomatocyclitic crisis	oboInOwl:hasDbXref	Orphanet:636950	Glaucomatocyclitic crisis disease	semapv:ManualMappingCuration
MONDO:0004907	alopecia	oboInOwl:hasDbXref	Orphanet:79364	Alopecia	semapv:ManualMappingCuration
MONDO:0004933	hypoplastic left heart syndrome	oboInOwl:hasDbXref	Orphanet:2248	Hypoplastic left heart syndrome	semapv:ManualMappingCuration
MONDO:0004948	B-cell chronic lymphocytic leukemia	oboInOwl:hasDbXref	Orphanet:67038	B-cell chronic lymphocytic leukemia	semapv:ManualMappingCuration
MONDO:0004952	Hodgkins lymphoma	oboInOwl:hasDbXref	Orphanet:98293	Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0004958	oral cavity squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:502363	Squamous cell carcinoma of the oral cavity	semapv:ManualMappingCuration
MONDO:0004959	plasma cell neoplasm	oboInOwl:hasDbXref	Orphanet:98282	Plasma cell tumor	semapv:ManualMappingCuration
MONDO:0004967	acute lymphoblastic leukemia	oboInOwl:hasDbXref	Orphanet:513	Acute lymphoblastic leukemia	semapv:ManualMappingCuration
MONDO:0004975	Alzheimer disease	oboInOwl:hasDbXref	Orphanet:238616	NON RARE IN EUROPE: Alzheimer disease	semapv:ManualMappingCuration
MONDO:0004976	amyotrophic lateral sclerosis	oboInOwl:hasDbXref	Orphanet:803	Amyotrophic lateral sclerosis	semapv:ManualMappingCuration
MONDO:0004977	angioimmunoblastic T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:86886	Angioimmunoblastic T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0004994	cardiomyopathy	oboInOwl:hasDbXref	Orphanet:167848	Rare cardiomyopathy	semapv:ManualMappingCuration
MONDO:0005005	clear cell renal carcinoma	oboInOwl:hasDbXref	Orphanet:319276	Clear cell renal carcinoma	semapv:ManualMappingCuration
MONDO:0005006	clear cell sarcoma of kidney	oboInOwl:hasDbXref	Orphanet:457246	Clear cell sarcoma of kidney	semapv:ManualMappingCuration
MONDO:0005011	Crohn disease	oboInOwl:hasDbXref	Orphanet:206	NON RARE IN EUROPE: Crohn disease	semapv:ManualMappingCuration
MONDO:0005021	dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217604	Dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0005028	esophageal adenocarcinoma	oboInOwl:hasDbXref	Orphanet:99976	Adenocarcinoma of the esophagus	semapv:ManualMappingCuration
MONDO:0005029	essential thrombocythemia	oboInOwl:hasDbXref	Orphanet:3318	Essential thrombocythemia	semapv:ManualMappingCuration
MONDO:0005033	ganglioneuroma	oboInOwl:hasDbXref	Orphanet:251992	Ganglioneuroma	semapv:ManualMappingCuration
MONDO:0005035	ganglioneuroblastoma	oboInOwl:hasDbXref	Orphanet:251877	Ganglioneuroblastoma	semapv:ManualMappingCuration
MONDO:0005036	gastric adenocarcinoma	oboInOwl:hasDbXref	Orphanet:464463	NON RARE IN EUROPE: Adenocarcinoma of stomach	semapv:ManualMappingCuration
MONDO:0005045	hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217569	Rare hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0005048	pancreatic insulin-producing neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:97279	Insulinoma	semapv:ManualMappingCuration
MONDO:0005055	Kaposi's sarcoma	oboInOwl:hasDbXref	Orphanet:33276	Kaposi sarcoma	semapv:ManualMappingCuration
MONDO:0005058	leiomyosarcoma	oboInOwl:hasDbXref	Orphanet:64720	Leiomyosarcoma	semapv:ManualMappingCuration
MONDO:0005060	liposarcoma	oboInOwl:hasDbXref	Orphanet:69078	Liposarcoma	semapv:ManualMappingCuration
MONDO:0005061	lung adenocarcinoma	oboInOwl:hasDbXref	Orphanet:415268	NON RARE IN EUROPE: Adenocarcinoma of the lung	semapv:ManualMappingCuration
MONDO:0005062	lymphoma	oboInOwl:hasDbXref	Orphanet:223735	Lymphoma	semapv:ManualMappingCuration
MONDO:0005072	neuroblastoma	oboInOwl:hasDbXref	Orphanet:635	Neuroblastoma	semapv:ManualMappingCuration
MONDO:0005077	pertussis	oboInOwl:hasDbXref	Orphanet:1489	Whooping cough	semapv:ManualMappingCuration
MONDO:0005081	preeclampsia	oboInOwl:hasDbXref	Orphanet:275555	Preeclampsia	semapv:ManualMappingCuration
MONDO:0005086	renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:217071	Renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0005090	schizophrenia	oboInOwl:hasDbXref	Orphanet:3140	NON RARE IN EUROPE: Schizophrenia	semapv:ManualMappingCuration
MONDO:0005091	severe acute respiratory syndrome	oboInOwl:hasDbXref	Orphanet:140896	Severe acute respiratory syndrome	semapv:ManualMappingCuration
MONDO:0005100	systemic sclerosis	oboInOwl:hasDbXref	Orphanet:90291	Systemic sclerosis	semapv:ManualMappingCuration
MONDO:0005101	ulcerative colitis	oboInOwl:hasDbXref	Orphanet:771	NON RARE IN EUROPE: Ulcerative colitis	semapv:ManualMappingCuration
MONDO:0005103	well-differentiated liposarcoma	oboInOwl:hasDbXref	Orphanet:99971	Well-differentiated liposarcoma	semapv:ManualMappingCuration
MONDO:0005105	melanoma	oboInOwl:hasDbXref	Orphanet:411533	NON RARE IN EUROPE: Melanoma	semapv:ManualMappingCuration
MONDO:0005115	temporal lobe epilepsy	oboInOwl:hasDbXref	Orphanet:98819	Familial temporal lobe epilepsy	semapv:ManualMappingCuration
MONDO:0005116	Whipple disease	oboInOwl:hasDbXref	Orphanet:3452	Whipple disease	semapv:ManualMappingCuration
MONDO:0005124	leprosy	oboInOwl:hasDbXref	Orphanet:548	Leprosy	semapv:ManualMappingCuration
MONDO:0005130	celiac disease	oboInOwl:hasDbXref	Orphanet:555	NON RARE IN EUROPE: Celiac disease	semapv:ManualMappingCuration
MONDO:0005136	malaria	oboInOwl:hasDbXref	Orphanet:673	Malaria	semapv:ManualMappingCuration
MONDO:0005147	type 1 diabetes mellitus	oboInOwl:hasDbXref	Orphanet:243377	NON RARE IN EUROPE: Diabetes mellitus type 1	semapv:ManualMappingCuration
MONDO:0005150	age-related macular degeneration	oboInOwl:hasDbXref	Orphanet:279	NON RARE IN EUROPE: Age-related macular degeneration	semapv:ManualMappingCuration
MONDO:0005153	cervical adenocarcinoma	oboInOwl:hasDbXref	Orphanet:213772	Adenocarcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0005164	fibrosarcoma	oboInOwl:hasDbXref	Orphanet:2030	Fibrosarcoma	semapv:ManualMappingCuration
MONDO:0005180	Parkinson disease	oboInOwl:hasDbXref	Orphanet:319705	NON RARE IN EUROPE: Parkinson disease	semapv:ManualMappingCuration
MONDO:0005181	progressive external ophthalmoplegia	oboInOwl:hasDbXref	Orphanet:520820	Progressive external ophthalmoplegia	semapv:ManualMappingCuration
MONDO:0005197	thymus neoplasm	oboInOwl:hasDbXref	Orphanet:100100	Thymic tumor	semapv:ManualMappingCuration
MONDO:0005198	vulvar intraepithelial neoplasia	oboInOwl:hasDbXref	Orphanet:137583	Vulvar intraepithelial neoplasia	semapv:ManualMappingCuration
MONDO:0005201	restrictive cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217632	Restrictive cardiomyopathy	semapv:ManualMappingCuration
MONDO:0005210	uterine corpus sarcoma	oboInOwl:hasDbXref	Orphanet:213620	Sarcoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0005212	rhabdomyosarcoma	oboInOwl:hasDbXref	Orphanet:780	Rhabdomyosarcoma	semapv:ManualMappingCuration
MONDO:0005215	vulvar carcinoma	oboInOwl:hasDbXref	Orphanet:494418	Vulvar carcinoma	semapv:ManualMappingCuration
MONDO:0005220	collecting duct carcinoma	oboInOwl:hasDbXref	Orphanet:247203	Collecting duct carcinoma	semapv:ManualMappingCuration
MONDO:0005223	acute myeloid leukemia with minimal differentiation	oboInOwl:hasDbXref	Orphanet:98832	Acute myeloid leukemia with minimal differentiation	semapv:ManualMappingCuration
MONDO:0005224	acute myeloblastic leukemia without maturation	oboInOwl:hasDbXref	Orphanet:98833	Acute myeloblastic leukemia without maturation	semapv:ManualMappingCuration
MONDO:0005233	non-small cell lung carcinoma	oboInOwl:hasDbXref	Orphanet:488201	NON RARE IN EUROPE: Non-small cell lung cancer	semapv:ManualMappingCuration
MONDO:0005258	autism spectrum disorder	oboInOwl:hasDbXref	Orphanet:106	NON RARE IN EUROPE: Autism	semapv:ManualMappingCuration
MONDO:0005259	Asperger syndrome	oboInOwl:hasDbXref	Orphanet:1162	NON RARE IN EUROPE: Asperger syndrome	semapv:ManualMappingCuration
MONDO:0005272	myelodysplastic syndrome with single lineage dysplasia	oboInOwl:hasDbXref	Orphanet:98826	Myelodysplastic neoplasm with low blasts	semapv:ManualMappingCuration
MONDO:0005301	multiple sclerosis	oboInOwl:hasDbXref	Orphanet:802	NON RARE IN EUROPE: Multiple sclerosis	semapv:ManualMappingCuration
MONDO:0005306	ankylosing spondylitis	oboInOwl:hasDbXref	Orphanet:825	NON RARE IN EUROPE: Ankylosing spondylitis	semapv:ManualMappingCuration
MONDO:0005308	ciliopathy	oboInOwl:hasDbXref	Orphanet:363250	Ciliopathy	semapv:ManualMappingCuration
MONDO:0005312	pouchitis	oboInOwl:hasDbXref	Orphanet:217067	Pouchitis	semapv:ManualMappingCuration
MONDO:0005313	necrotizing enterocolitis	oboInOwl:hasDbXref	Orphanet:391673	Necrotizing enterocolitis	semapv:ManualMappingCuration
MONDO:0005321	Fuchs' endothelial dystrophy	oboInOwl:hasDbXref	Orphanet:98974	Fuchs endothelial corneal dystrophy	semapv:ManualMappingCuration
MONDO:0005342	IgA glomerulonephritis	oboInOwl:hasDbXref	Orphanet:34145	Immunoglobulin A nephropathy	semapv:ManualMappingCuration
MONDO:0005345	hypospadias	oboInOwl:hasDbXref	Orphanet:440	OBSOLETE: Familial hypospadias	semapv:ManualMappingCuration
MONDO:0005349	otosclerosis	oboInOwl:hasDbXref	Orphanet:2794	NON RARE IN EUROPE: Familial otosclerosis	semapv:ManualMappingCuration
MONDO:0005351	anorexia nervosa	oboInOwl:hasDbXref	Orphanet:36297	NON RARE IN EUROPE: Anorexia nervosa	semapv:ManualMappingCuration
MONDO:0005361	eosinophilic esophagitis	oboInOwl:hasDbXref	Orphanet:73247	NON RARE IN EUROPE: Eosinophilic esophagitis	semapv:ManualMappingCuration
MONDO:0005380	osteonecrosis	oboInOwl:hasDbXref	Orphanet:399158	Osteonecrosis	semapv:ManualMappingCuration
MONDO:0005382	bone Paget disease	oboInOwl:hasDbXref	Orphanet:280110	NON RARE IN EUROPE: Paget disease of bone	semapv:ManualMappingCuration
MONDO:0005387	primary ovarian failure	oboInOwl:hasDbXref	Orphanet:619	NON RARE IN EUROPE: Primary ovarian failure	semapv:ManualMappingCuration
MONDO:0005388	primary biliary cholangitis	oboInOwl:hasDbXref	Orphanet:186	Primary biliary cholangitis	semapv:ManualMappingCuration
MONDO:0005404	myalgic encephalomeyelitis/chronic fatigue syndrome	oboInOwl:hasDbXref	Orphanet:1983	NON RARE IN EUROPE: Chronic fatigue syndrome	semapv:ManualMappingCuration
MONDO:0005440	embryonal carcinoma	oboInOwl:hasDbXref	Orphanet:180226	Embryonal carcinoma	semapv:ManualMappingCuration
MONDO:0005459	human African trypanosomiasis	oboInOwl:hasDbXref	Orphanet:3385	African trypanosomiasis	semapv:ManualMappingCuration
MONDO:0005486	tooth agenesis	oboInOwl:hasDbXref	Orphanet:2227	NON RARE IN EUROPE: Hypodontia	semapv:ManualMappingCuration
MONDO:0005486	tooth agenesis	oboInOwl:hasDbXref	Orphanet:99798	Oligodontia	semapv:ManualMappingCuration
MONDO:0005488	adolescent idiopathic scoliosis	oboInOwl:hasDbXref	Orphanet:3153	NON RARE IN EUROPE: Adolescent idiopathic scoliosis	semapv:ManualMappingCuration
MONDO:0005498	botulism	oboInOwl:hasDbXref	Orphanet:1267	Botulism	semapv:ManualMappingCuration
MONDO:0005502	dengue disease	oboInOwl:hasDbXref	Orphanet:99828	Dengue fever	semapv:ManualMappingCuration
MONDO:0005504	diphtheria	oboInOwl:hasDbXref	Orphanet:1679	Diphtheria	semapv:ManualMappingCuration
MONDO:0005505	dysembryoplastic neuroepithelial tumor	oboInOwl:hasDbXref	Orphanet:251946	Dysembryoplastic neuroepithelial tumor	semapv:ManualMappingCuration
MONDO:0005508	hereditary multiple osteochondromas	oboInOwl:hasDbXref	Orphanet:321	Multiple osteochondromas	semapv:ManualMappingCuration
MONDO:0005512	malignant peritoneal mesothelioma	oboInOwl:hasDbXref	Orphanet:168811	Malignant peritoneal mesothelioma	semapv:ManualMappingCuration
MONDO:0005514	nanophthalmia	oboInOwl:hasDbXref	Orphanet:35612	Nanophthalmos	semapv:ManualMappingCuration
MONDO:0005526	tetanus	oboInOwl:hasDbXref	Orphanet:3299	Tetanus	semapv:ManualMappingCuration
MONDO:0005543	autoimmune hepatitis type 1	oboInOwl:hasDbXref	Orphanet:563576	Autoimmune hepatitis type 1	semapv:ManualMappingCuration
MONDO:0005546	fibromyalgia	oboInOwl:hasDbXref	Orphanet:41842	NON RARE IN EUROPE: Fibromyalgia	semapv:ManualMappingCuration
MONDO:0005563	nut midline carcinoma	oboInOwl:hasDbXref	Orphanet:443167	NUT midline carcinoma	semapv:ManualMappingCuration
MONDO:0005570	hematologic disorder	oboInOwl:hasDbXref	Orphanet:97992	Rare hematologic disease	semapv:ManualMappingCuration
MONDO:0005571	polycythemia	oboInOwl:hasDbXref	Orphanet:98427	Polycythemia	semapv:ManualMappingCuration
MONDO:0005575	colorectal cancer	oboInOwl:hasDbXref	Orphanet:466667	NON RARE IN EUROPE: Colorectal cancer	semapv:ManualMappingCuration
MONDO:0005580	esophageal squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:99977	Squamous cell carcinoma of the esophagus	semapv:ManualMappingCuration
MONDO:0005595	laryngeal squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:494550	Squamous cell carcinoma of the larynx	semapv:ManualMappingCuration
MONDO:0005601	ovarian mucinous adenocarcinoma	oboInOwl:hasDbXref	Orphanet:398961	Mucinous adenocarcinoma of ovary	semapv:ManualMappingCuration
MONDO:0005615	plasmacytoma	oboInOwl:hasDbXref	Orphanet:86855	Plasmacytoma	semapv:ManualMappingCuration
MONDO:0005619	typhoid fever	oboInOwl:hasDbXref	Orphanet:99745	Typhoid	semapv:ManualMappingCuration
MONDO:0005620	cerebral amyloid angiopathy	oboInOwl:hasDbXref	Orphanet:85458	Cerebral Amyloid Angiopathy	semapv:ManualMappingCuration
MONDO:0005629	Acanthamoeba keratitis	oboInOwl:hasDbXref	Orphanet:67043	Amoebic keratitis	semapv:ManualMappingCuration
MONDO:0005631	actinomycosis	oboInOwl:hasDbXref	Orphanet:457095	Actinomycosis	semapv:ManualMappingCuration
MONDO:0005645	ancylostomiasis	oboInOwl:hasDbXref	Orphanet:78	Ankylostomiasis	semapv:ManualMappingCuration
MONDO:0005657	aspergillosis	oboInOwl:hasDbXref	Orphanet:1163	Aspergillosis	semapv:ManualMappingCuration
MONDO:0005661	babesiosis	oboInOwl:hasDbXref	Orphanet:108	Babesiosis	semapv:ManualMappingCuration
MONDO:0005662	balantidiasis	oboInOwl:hasDbXref	Orphanet:1223	Balantidiasis	semapv:ManualMappingCuration
MONDO:0005665	Bell's palsy	oboInOwl:hasDbXref	Orphanet:2810	NON RARE IN EUROPE: Idiopathic facial palsy	semapv:ManualMappingCuration
MONDO:0005668	bird fancier's lung	oboInOwl:hasDbXref	Orphanet:99908	OBSOLETE: Pigeon-breeder lung disease	semapv:ManualMappingCuration
MONDO:0005674	bone giant cell tumor	oboInOwl:hasDbXref	Orphanet:363976	Giant cell tumor of bone	semapv:ManualMappingCuration
MONDO:0005680	Brill-Zinsser disease	oboInOwl:hasDbXref	Orphanet:99990	Brill-Zinsser disease	semapv:ManualMappingCuration
MONDO:0005683	brucellosis	oboInOwl:hasDbXref	Orphanet:1304	Brucellosis	semapv:ManualMappingCuration
MONDO:0005692	cat-scratch disease	oboInOwl:hasDbXref	Orphanet:50839	Cat-scratch disease	semapv:ManualMappingCuration
MONDO:0005696	central nervous system tuberculosis	oboInOwl:hasDbXref	Orphanet:641396	Central nervous system tuberculosis	semapv:ManualMappingCuration
MONDO:0005705	clonorchiasis	oboInOwl:hasDbXref	Orphanet:658917	Clonorchiasis	semapv:ManualMappingCuration
MONDO:0005706	coccidioidomycosis	oboInOwl:hasDbXref	Orphanet:228123	Coccidioidomycosis	semapv:ManualMappingCuration
MONDO:0005708	Colorado tick fever	oboInOwl:hasDbXref	Orphanet:83595	Colorado tick fever	semapv:ManualMappingCuration
MONDO:0005710	composite lymphoma	oboInOwl:hasDbXref	Orphanet:168966	Composite lymphoma	semapv:ManualMappingCuration
MONDO:0005711	congenital diaphragmatic hernia	oboInOwl:hasDbXref	Orphanet:2140	Congenital diaphragmatic hernia	semapv:ManualMappingCuration
MONDO:0005712	congenital nystagmus	oboInOwl:hasDbXref	Orphanet:651	NON RARE IN EUROPE: Idiopathic infantile nystagmus	semapv:ManualMappingCuration
MONDO:0005714	congenital syphilis	oboInOwl:hasDbXref	Orphanet:499009	Congenital syphilis	semapv:ManualMappingCuration
MONDO:0005715	congenital toxoplasmosis	oboInOwl:hasDbXref	Orphanet:858	Congenital toxoplasmosis	semapv:ManualMappingCuration
MONDO:0005724	cryptococcosis	oboInOwl:hasDbXref	Orphanet:1546	Cryptococcosis	semapv:ManualMappingCuration
MONDO:0005725	cyclosporiasis	oboInOwl:hasDbXref	Orphanet:210	Cyclosporiasis	semapv:ManualMappingCuration
MONDO:0005736	eastern equine encephalitis	oboInOwl:hasDbXref	Orphanet:83594	Eastern equine encephalitis	semapv:ManualMappingCuration
MONDO:0005737	Ebola hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319218	Ebola hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0005744	yolk sac tumor	oboInOwl:hasDbXref	Orphanet:876	Yolk sac tumor	semapv:ManualMappingCuration
MONDO:0005761	filarial elephantiasis	oboInOwl:hasDbXref	Orphanet:2035	Lymphatic filariasis	semapv:ManualMappingCuration
MONDO:0005764	follicular dendritic cell sarcoma	oboInOwl:hasDbXref	Orphanet:86902	Follicular dendritic cell sarcoma	semapv:ManualMappingCuration
MONDO:0005769	geniculate herpes zoster	oboInOwl:hasDbXref	Orphanet:3020	Ramsay Hunt syndrome	semapv:ManualMappingCuration
MONDO:0005773	Gerstmann syndrome	oboInOwl:hasDbXref	Orphanet:221117	Gerstmann syndrome	semapv:ManualMappingCuration
MONDO:0005774	glanders	oboInOwl:hasDbXref	Orphanet:659908	Glanders	semapv:ManualMappingCuration
MONDO:0005789	hepatitis D virus infection	oboInOwl:hasDbXref	Orphanet:402823	Hepatitis delta	semapv:ManualMappingCuration
MONDO:0005797	HIV wasting syndrome	oboInOwl:hasDbXref	Orphanet:90081	AIDS wasting syndrome	semapv:ManualMappingCuration
MONDO:0005802	hymenolepiasis	oboInOwl:hasDbXref	Orphanet:401	Hymenolepiasis	semapv:ManualMappingCuration
MONDO:0005803	hyperinsulinemic hypoglycemia	oboInOwl:hasDbXref	Orphanet:443095	Hyperinsulinemic hypoglycaemia	semapv:ManualMappingCuration
MONDO:0005805	hypodermyiasis	oboInOwl:hasDbXref	Orphanet:430	OBSOLETE: Hypodermyiasis	semapv:ManualMappingCuration
MONDO:0005815	pancreatic neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:506052	Neuroendocrine neoplasm of pancreas	semapv:ManualMappingCuration
MONDO:0005817	Kluver-Bucy syndrome	oboInOwl:hasDbXref	Orphanet:157823	Klüver-Bucy syndrome	semapv:ManualMappingCuration
MONDO:0005820	Lassa fever	oboInOwl:hasDbXref	Orphanet:99824	Lassa fever	semapv:ManualMappingCuration
MONDO:0005823	legionellosis	oboInOwl:hasDbXref	Orphanet:549	Legionnaires disease	semapv:ManualMappingCuration
MONDO:0005823	legionellosis	oboInOwl:hasDbXref	Orphanet:600832	Legionella infection	semapv:ManualMappingCuration
MONDO:0005825	leptospirosis	oboInOwl:hasDbXref	Orphanet:509	Leptospirosis	semapv:ManualMappingCuration
MONDO:0005828	listeriosis	oboInOwl:hasDbXref	Orphanet:533	Listeriosis	semapv:ManualMappingCuration
MONDO:0005835	Lynch syndrome	oboInOwl:hasDbXref	Orphanet:144	Lynch syndrome	semapv:ManualMappingCuration
MONDO:0005838	mansonelliasis	oboInOwl:hasDbXref	Orphanet:2459	Mansonelliasis	semapv:ManualMappingCuration
MONDO:0005846	microsporidiosis	oboInOwl:hasDbXref	Orphanet:2552	Microsporidiosis	semapv:ManualMappingCuration
MONDO:0005851	Miller Fisher syndrome	oboInOwl:hasDbXref	Orphanet:98919	Miller Fisher syndrome	semapv:ManualMappingCuration
MONDO:0005854	mixed connective tissue disease	oboInOwl:hasDbXref	Orphanet:809	Mixed connective tissue disease	semapv:ManualMappingCuration
MONDO:0005888	ornithosis	oboInOwl:hasDbXref	Orphanet:660053	Psittacosis	semapv:ManualMappingCuration
MONDO:0005893	pancreatic endocrine carcinoma	oboInOwl:hasDbXref	Orphanet:506098	Neuroendocrine carcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0005894	paracoccidioidomycosis	oboInOwl:hasDbXref	Orphanet:73260	Paracoccidioidomycosis	semapv:ManualMappingCuration
MONDO:0005895	paragonimiasis	oboInOwl:hasDbXref	Orphanet:658913	Paragonimiasis	semapv:ManualMappingCuration
MONDO:0005904	pericarditis	oboInOwl:hasDbXref	Orphanet:58208	NON RARE IN EUROPE: Pericarditis	semapv:ManualMappingCuration
MONDO:0005916	placenta accreta	oboInOwl:hasDbXref	Orphanet:662721	Placenta accreta spectrum disorder	semapv:ManualMappingCuration
MONDO:0005919	placental insufficiency	oboInOwl:hasDbXref	Orphanet:439167	Placental insufficiency	semapv:ManualMappingCuration
MONDO:0005933	pulmonary blastoma	oboInOwl:hasDbXref	Orphanet:64741	Pulmonary blastoma	semapv:ManualMappingCuration
MONDO:0005942	Reye syndrome	oboInOwl:hasDbXref	Orphanet:3096	Reye syndrome	semapv:ManualMappingCuration
MONDO:0005968	sporotrichosis	oboInOwl:hasDbXref	Orphanet:826	Sporotrichosis	semapv:ManualMappingCuration
MONDO:0005969	st. Louis encephalitis	oboInOwl:hasDbXref	Orphanet:83484	St. Louis encephalitis	semapv:ManualMappingCuration
MONDO:0005974	strongyloidiasis	oboInOwl:hasDbXref	Orphanet:76	Strongyloidiasis	semapv:ManualMappingCuration
MONDO:0005979	thoracic outlet syndrome	oboInOwl:hasDbXref	Orphanet:97330	Thoracic outlet syndrome	semapv:ManualMappingCuration
MONDO:0005988	toxocariasis	oboInOwl:hasDbXref	Orphanet:3343	Toxocariasis	semapv:ManualMappingCuration
MONDO:0005991	trench fever	oboInOwl:hasDbXref	Orphanet:64694	Trench fever	semapv:ManualMappingCuration
MONDO:0006009	viral encephalitis	oboInOwl:hasDbXref	Orphanet:98252	Infectious encephalitis	semapv:ManualMappingCuration
MONDO:0006015	Waterhouse-Friderichsen syndrome	oboInOwl:hasDbXref	Orphanet:100067	Waterhouse-Friderichsen syndrome	semapv:ManualMappingCuration
MONDO:0006033	diffuse intrinsic pontine glioma	oboInOwl:hasDbXref	Orphanet:497188	Diffuse intrinsic pontine glioma	semapv:ManualMappingCuration
MONDO:0006037	hydrolethalus syndrome	oboInOwl:hasDbXref	Orphanet:2189	Hydrolethalus	semapv:ManualMappingCuration
MONDO:0006042	meningeal tuberculosis	oboInOwl:hasDbXref	Orphanet:499004	OBSOLETE: Tuberculous meningitis	semapv:ManualMappingCuration
MONDO:0006043	metaplastic breast carcinoma	oboInOwl:hasDbXref	Orphanet:213531	Metaplastic carcinoma of the breast	semapv:ManualMappingCuration
MONDO:0006045	ovarian clear cell adenocarcinoma	oboInOwl:hasDbXref	Orphanet:398971	Clear cell adenocarcinoma of the ovary	semapv:ManualMappingCuration
MONDO:0006065	lactose intolerance adult type	oboInOwl:hasDbXref	Orphanet:319681	NON RARE IN EUROPE: Lactase non-persistence in adulthood	semapv:ManualMappingCuration
MONDO:0006079	ameloblastic carcinoma	oboInOwl:hasDbXref	Orphanet:314422	Ameloblastic carcinoma	semapv:ManualMappingCuration
MONDO:0006131	cerebellar liponeurocytoma	oboInOwl:hasDbXref	Orphanet:251931	Cerebellar liponeurocytoma	semapv:ManualMappingCuration
MONDO:0006132	cervical adenoid basal carcinoma	oboInOwl:hasDbXref	Orphanet:213828	Adenoid basal carcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0006133	cervical adenoid cystic carcinoma	oboInOwl:hasDbXref	Orphanet:213823	Adenoid cystic carcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0006143	cervical squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:213767	Squamous cell carcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0006183	disseminated peritoneal leiomyomatosis	oboInOwl:hasDbXref	Orphanet:71274	Disseminated peritoneal leiomyomatosis	semapv:ManualMappingCuration
MONDO:0006210	fibrolamellar hepatocellular carcinoma	oboInOwl:hasDbXref	Orphanet:401920	Fibrolamellar hepatocellular carcinoma	semapv:ManualMappingCuration
MONDO:0006230	gastric squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:418959	Squamous cell carcinoma of the stomach	semapv:ManualMappingCuration
MONDO:0006238	growth hormone-producing pituitary gland adenoma	oboInOwl:hasDbXref	Orphanet:96256	Somatotropic adenoma	semapv:ManualMappingCuration
MONDO:0006247	histiocytic and dendritic cell neoplasm	oboInOwl:hasDbXref	Orphanet:98287	Histiocytic and dendritic cell tumor	semapv:ManualMappingCuration
MONDO:0006248	hydatidiform mole	oboInOwl:hasDbXref	Orphanet:99927	Hydatidiform mole	semapv:ManualMappingCuration
MONDO:0006260	kidney medullary carcinoma	oboInOwl:hasDbXref	Orphanet:319319	Renal medullary carcinoma	semapv:ManualMappingCuration
MONDO:0006277	lung lymphangioleiomyomatosis	oboInOwl:hasDbXref	Orphanet:538	Lymphangioleiomyomatosis	semapv:ManualMappingCuration
MONDO:0006292	malignant mesothelioma	oboInOwl:hasDbXref	Orphanet:50251	Pleural mesothelioma	semapv:ManualMappingCuration
MONDO:0006335	ovarian endometrioid adenocarcinoma	oboInOwl:hasDbXref	Orphanet:454723	Endometrioid carcinoma of ovary	semapv:ManualMappingCuration
MONDO:0006339	ovarian microcystic stromal tumor	oboInOwl:hasDbXref	Orphanet:569248	Microcystic stromal tumor	semapv:ManualMappingCuration
MONDO:0006346	pancreatic acinar cell carcinoma	oboInOwl:hasDbXref	Orphanet:424046	Acinar cell carcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0006359	neoplasm with perivascular epithelioid cell differentiation	oboInOwl:hasDbXref	Orphanet:595133	Perivascular epithelioid cell neoplasm	semapv:ManualMappingCuration
MONDO:0006363	peritoneal multicystic mesothelioma	oboInOwl:hasDbXref	Orphanet:168816	Peritoneal inclusion cyst	semapv:ManualMappingCuration
MONDO:0006369	pineal parenchymal tumor of intermediate differentiation	oboInOwl:hasDbXref	Orphanet:251919	Pineal parenchymal tumor of intermediate differentiation	semapv:ManualMappingCuration
MONDO:0006372	pituicytoma	oboInOwl:hasDbXref	Orphanet:251623	Pituicytoma	semapv:ManualMappingCuration
MONDO:0006373	pituitary gland adenoma	oboInOwl:hasDbXref	Orphanet:99408	Pituitary adenoma	semapv:ManualMappingCuration
MONDO:0006383	primary cutaneous diffuse large B-cell lymphoma, Leg type	oboInOwl:hasDbXref	Orphanet:178544	Primary cutaneous diffuse large B-cell lymphoma, leg type	semapv:ManualMappingCuration
MONDO:0006412	sinus histiocytosis with massive lymphadenopathy	oboInOwl:hasDbXref	Orphanet:158014	Rosaï-Dorfman disease	semapv:ManualMappingCuration
MONDO:0006447	testicular non-seminomatous germ cell tumor	oboInOwl:hasDbXref	Orphanet:363494	Non-seminomatous germ cell tumor of testis	semapv:ManualMappingCuration
MONDO:0006451	thymic carcinoma	oboInOwl:hasDbXref	Orphanet:99868	Thymic carcinoma	semapv:ManualMappingCuration
MONDO:0006456	thymoma	oboInOwl:hasDbXref	Orphanet:99867	Thymoma	semapv:ManualMappingCuration
MONDO:0006460	thyroglossal duct cyst	oboInOwl:hasDbXref	Orphanet:489	NON RARE IN EUROPE: Thyroglossal duct cyst	semapv:ManualMappingCuration
MONDO:0006468	thyroid gland undifferentiated (anaplastic) carcinoma	oboInOwl:hasDbXref	Orphanet:142	Anaplastic thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0006479	undifferentiated pancreatic carcinoma with osteoclast-like giant cells	oboInOwl:hasDbXref	Orphanet:424080	Undifferentiated carcinoma with osteoclast-like giant cells of pancreas	semapv:ManualMappingCuration
MONDO:0006486	uveal melanoma	oboInOwl:hasDbXref	Orphanet:39044	Uveal melanoma	semapv:ManualMappingCuration
MONDO:0006543	epidermolysis bullosa dystrophica	oboInOwl:hasDbXref	Orphanet:303	Dystrophic epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0006558	pemphigoid gestationis	oboInOwl:hasDbXref	Orphanet:63275	Pemphigoid gestationis	semapv:ManualMappingCuration
MONDO:0006559	hidradenitis suppurativa	oboInOwl:hasDbXref	Orphanet:387	NON RARE IN EUROPE: Hidradenitis suppurativa	semapv:ManualMappingCuration
MONDO:0006583	necrobiosis lipoidica	oboInOwl:hasDbXref	Orphanet:542592	Necrobiosis lipoidica	semapv:ManualMappingCuration
MONDO:0006602	porokeratosis	oboInOwl:hasDbXref	Orphanet:79358	Porokeratosis	semapv:ManualMappingCuration
MONDO:0006606	scleredema adultorum	oboInOwl:hasDbXref	Orphanet:352763	Scleredema	semapv:ManualMappingCuration
MONDO:0006614	subcorneal pustular dermatosis	oboInOwl:hasDbXref	Orphanet:48377	Subcorneal pustular dermatosis	semapv:ManualMappingCuration
MONDO:0006639	adrenal cortex carcinoma	oboInOwl:hasDbXref	Orphanet:1501	Adrenocortical carcinoma	semapv:ManualMappingCuration
MONDO:0006651	anterior uveitis	oboInOwl:hasDbXref	Orphanet:280886	Anterior uveitis	semapv:ManualMappingCuration
MONDO:0006663	perinatal asphyxia	oboInOwl:hasDbXref	Orphanet:137577	Neonatal hypoxic and ischemic brain injury	semapv:ManualMappingCuration
MONDO:0006664	atrial septal defect	oboInOwl:hasDbXref	Orphanet:1478	Interatrial communication	semapv:ManualMappingCuration
MONDO:0006687	burning mouth syndrome	oboInOwl:hasDbXref	Orphanet:353253	Burning mouth syndrome	semapv:ManualMappingCuration
MONDO:0006702	chronic inflammatory demyelinating polyradiculoneuropathy	oboInOwl:hasDbXref	Orphanet:2932	Chronic inflammatory demyelinating polyneuropathy	semapv:ManualMappingCuration
MONDO:0006745	endometrioid stromal sarcoma	oboInOwl:hasDbXref	Orphanet:213711	Endometrial stromal sarcoma	semapv:ManualMappingCuration
MONDO:0006761	fibromuscular dysplasia	oboInOwl:hasDbXref	Orphanet:336	NON RARE IN EUROPE: Fibromuscular dysplasia of arteries	semapv:ManualMappingCuration
MONDO:0006802	inappropriate ADH syndrome	oboInOwl:hasDbXref	Orphanet:83449	NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome	semapv:ManualMappingCuration
MONDO:0006806	intermediate uveitis	oboInOwl:hasDbXref	Orphanet:279914	Intermediate uveitis	semapv:ManualMappingCuration
MONDO:0006825	kuru	oboInOwl:hasDbXref	Orphanet:454745	Kuru	semapv:ManualMappingCuration
MONDO:0006851	meconium aspiration syndrome	oboInOwl:hasDbXref	Orphanet:70588	Meconium aspiration syndrome	semapv:ManualMappingCuration
MONDO:0006861	myeloid sarcoma	oboInOwl:hasDbXref	Orphanet:86850	Myeloid sarcoma	semapv:ManualMappingCuration
MONDO:0006908	pituitary apoplexy	oboInOwl:hasDbXref	Orphanet:95613	Pituitary apoplexy	semapv:ManualMappingCuration
MONDO:0006913	pneumococcal meningitis	oboInOwl:hasDbXref	Orphanet:55655	Pneumococcal meningitis	semapv:ManualMappingCuration
MONDO:0006941	rat-bite fever	oboInOwl:hasDbXref	Orphanet:31205	Rat-bite fever	semapv:ManualMappingCuration
MONDO:0006952	retinopathy of prematurity	oboInOwl:hasDbXref	Orphanet:90050	Retinopathy of prematurity	semapv:ManualMappingCuration
MONDO:0006956	Rickettsiosis	oboInOwl:hasDbXref	Orphanet:102021	Rickettsial disease	semapv:ManualMappingCuration
MONDO:0006976	somatostatinoma	oboInOwl:hasDbXref	Orphanet:97283	Somatostatinoma	semapv:ManualMappingCuration
MONDO:0007001	tricuspid valve prolapse	oboInOwl:hasDbXref	Orphanet:95458	OBSOLETE: Tricuspid valve prolapse	semapv:ManualMappingCuration
MONDO:0007012	variant Creutzfeldt-Jakob disease	oboInOwl:hasDbXref	Orphanet:576370	Variant Creutzfeldt-Jakob disease	semapv:ManualMappingCuration
MONDO:0007020	Wernicke encephalopathy	oboInOwl:hasDbXref	Orphanet:97354	NON RARE IN EUROPE: Wernicke encephalopathy	semapv:ManualMappingCuration
MONDO:0007029	branchio-oto-renal syndrome	oboInOwl:hasDbXref	Orphanet:107	BOR syndrome	semapv:ManualMappingCuration
MONDO:0007031	familial abdominal aortic aneurysm	oboInOwl:hasDbXref	Orphanet:86	Familial abdominal aortic aneurysm	semapv:ManualMappingCuration
MONDO:0007032	prune belly syndrome	oboInOwl:hasDbXref	Orphanet:2970	Prune belly syndrome	semapv:ManualMappingCuration
MONDO:0007034	Adams-Oliver syndrome	oboInOwl:hasDbXref	Orphanet:974	Adams-Oliver syndrome	semapv:ManualMappingCuration
MONDO:0007035	acanthosis nigricans	oboInOwl:hasDbXref	Orphanet:924	NON RARE IN EUROPE: Acanthosis nigricans	semapv:ManualMappingCuration
MONDO:0007037	achondroplasia	oboInOwl:hasDbXref	Orphanet:15	Achondroplasia	semapv:ManualMappingCuration
MONDO:0007039	NF2-related schwannomatosis	oboInOwl:hasDbXref	Orphanet:637	Full NF2-related schwannomatosis	semapv:ManualMappingCuration
MONDO:0007040	Sakati-Nyhan syndrome	oboInOwl:hasDbXref	Orphanet:3128	OBSOLETE: Sakati-Nyhan syndrome	semapv:ManualMappingCuration
MONDO:0007041	Apert syndrome	oboInOwl:hasDbXref	Orphanet:87	Apert syndrome	semapv:ManualMappingCuration
MONDO:0007042	Saethre-Chotzen syndrome	oboInOwl:hasDbXref	Orphanet:794	Saethre-Chotzen syndrome	semapv:ManualMappingCuration
MONDO:0007043	Pfeiffer syndrome	oboInOwl:hasDbXref	Orphanet:710	Pfeiffer syndrome	semapv:ManualMappingCuration
MONDO:0007045	acrofacial dysostosis, Catania type	oboInOwl:hasDbXref	Orphanet:1786	Acrofacial dysostosis, Catania type	semapv:ManualMappingCuration
MONDO:0007047	punctate palmoplantar keratoderma type III	oboInOwl:hasDbXref	Orphanet:38	Acrokeratoelastoidosis of Costa	semapv:ManualMappingCuration
MONDO:0007048	acrokeratosis verruciformis	oboInOwl:hasDbXref	Orphanet:79151	Acrokeratosis verruciformis of Hopf	semapv:ManualMappingCuration
MONDO:0007050	acromegaloid changes, cutis verticis gyrata, and corneal leukoma	oboInOwl:hasDbXref	Orphanet:964	Acromegaly-cutis verticis gyrata-corneal leukoma syndrome	semapv:ManualMappingCuration
MONDO:0007051	acromegaloid facial appearance syndrome	oboInOwl:hasDbXref	Orphanet:965	Acromegaloid facial appearance syndrome	semapv:ManualMappingCuration
MONDO:0007055	Acromicric dysplasia	oboInOwl:hasDbXref	Orphanet:969	Acromicric dysplasia	semapv:ManualMappingCuration
MONDO:0007057	acroosteolysis dominant type	oboInOwl:hasDbXref	Orphanet:955	Hajdu-Cheney syndrome	semapv:ManualMappingCuration
MONDO:0007058	Acropectorovertebral dysplasia	oboInOwl:hasDbXref	Orphanet:957	Acropectorovertebral dysplasia	semapv:ManualMappingCuration
MONDO:0007059	acrorenal syndrome	oboInOwl:hasDbXref	Orphanet:971	Acrorenal syndrome	semapv:ManualMappingCuration
MONDO:0007062	adactylia, unilateral	oboInOwl:hasDbXref	Orphanet:973	Isolated absence/hypoplasia of fingers excluding thumb, unilateral	semapv:ManualMappingCuration
MONDO:0007064	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	oboInOwl:hasDbXref	Orphanet:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	semapv:ManualMappingCuration
MONDO:0007066	adenosine triphosphatase deficiency, anemia due to	oboInOwl:hasDbXref	Orphanet:1044	OBSOLETE: Anemia due to adenosine triphosphatase deficiency	semapv:ManualMappingCuration
MONDO:0007068	adenylosuccinate lyase deficiency	oboInOwl:hasDbXref	Orphanet:46	Adenylosuccinate lyase deficiency	semapv:ManualMappingCuration
MONDO:0007070	adiposis dolorosa	oboInOwl:hasDbXref	Orphanet:36397	Adiposis dolorosa	semapv:ManualMappingCuration
MONDO:0007072	ADULT syndrome	oboInOwl:hasDbXref	Orphanet:978	ADULT syndrome	semapv:ManualMappingCuration
MONDO:0007073	Hypoglossia-hypodactyly syndrome	oboInOwl:hasDbXref	Orphanet:989	Hypoglossia-hypodactyly syndrome	semapv:ManualMappingCuration
MONDO:0007077	Tietz syndrome	oboInOwl:hasDbXref	Orphanet:42665	Tietz syndrome	semapv:ManualMappingCuration
MONDO:0007078	pseudohypoparathyroidism type 1A	oboInOwl:hasDbXref	Orphanet:79443	Pseudohypoparathyroidism type 1A	semapv:ManualMappingCuration
MONDO:0007080	glucocorticoid-remediable aldosteronism	oboInOwl:hasDbXref	Orphanet:403	Familial hyperaldosteronism type I	semapv:ManualMappingCuration
MONDO:0007083	autosomal dominant palmoplantar keratoderma and congenital alopecia	oboInOwl:hasDbXref	Orphanet:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	semapv:ManualMappingCuration
MONDO:0007085	alopecia-epilepsy-pyorrhea-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1008	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0007086	autosomal dominant Alport syndrome	oboInOwl:hasDbXref	Orphanet:88918	Autosomal dominant Alport syndrome	semapv:ManualMappingCuration
MONDO:0007093	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	oboInOwl:hasDbXref	Orphanet:100034	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	semapv:ManualMappingCuration
MONDO:0007095	ameloonychohypohidrotic syndrome	oboInOwl:hasDbXref	Orphanet:1028	Amelo-onycho-hypohidrotic syndrome	semapv:ManualMappingCuration
MONDO:0007097	Finnish type amyloidosis	oboInOwl:hasDbXref	Orphanet:85448	AGel amyloidosis	semapv:ManualMappingCuration
MONDO:0007098	ACys amyloidosis	oboInOwl:hasDbXref	Orphanet:100008	ACys amyloidosis	semapv:ManualMappingCuration
MONDO:0007099	familial visceral amyloidosis	oboInOwl:hasDbXref	Orphanet:85450	Hereditary amyloidosis with primary renal involvement	semapv:ManualMappingCuration
MONDO:0007100	familial amyloid neuropathy	oboInOwl:hasDbXref	Orphanet:271861	Hereditary ATTR amyloidosis	semapv:ManualMappingCuration
MONDO:0007101	familial primary localized cutaneous amyloidosis	oboInOwl:hasDbXref	Orphanet:353220	Familial primary localized cutaneous amyloidosis	semapv:ManualMappingCuration
MONDO:0007104	amyotrophic lateral sclerosis-parkinsonism-dementia complex	oboInOwl:hasDbXref	Orphanet:90020	Parkinson-dementia complex of Guam	semapv:ManualMappingCuration
MONDO:0007108	anal canal carcinoma	oboInOwl:hasDbXref	Orphanet:424013	Carcinoma of the anal canal	semapv:ManualMappingCuration
MONDO:0007109	congenital dyserythropoietic anemia type 3	oboInOwl:hasDbXref	Orphanet:98870	Congenital dyserythropoietic anemia type III	semapv:ManualMappingCuration
MONDO:0007112	interventricular septum aneurysm	oboInOwl:hasDbXref	Orphanet:99092	Interventricular septum aneurysm	semapv:ManualMappingCuration
MONDO:0007113	Angelman syndrome	oboInOwl:hasDbXref	Orphanet:72	Angelman syndrome	semapv:ManualMappingCuration
MONDO:0007114	Angel-shaped phalango-epiphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:63442	Angel-shaped phalango-epiphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0007116	hereditary neurocutaneous angioma	oboInOwl:hasDbXref	Orphanet:1062	Hereditary neurocutaneous malformation	semapv:ManualMappingCuration
MONDO:0007118	isolated anhidrosis with normal sweat glands	oboInOwl:hasDbXref	Orphanet:468666	Isolated generalized anhidrosis with normal sweat glands	semapv:ManualMappingCuration
MONDO:0007119	isolated aniridia	oboInOwl:hasDbXref	Orphanet:250923	Isolated aniridia	semapv:ManualMappingCuration
MONDO:0007120	aniridia-absent patella syndrome	oboInOwl:hasDbXref	Orphanet:1069	Aniridia-absent patella syndrome	semapv:ManualMappingCuration
MONDO:0007123	ankyloblepharon filiforme adnatum-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	semapv:ManualMappingCuration
MONDO:0007124	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	oboInOwl:hasDbXref	Orphanet:1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	semapv:ManualMappingCuration
MONDO:0007127	diffuse idiopathic skeletal hyperostosis	oboInOwl:hasDbXref	Orphanet:2206	Ankylosing vertebral hyperostosis with tylosis	semapv:ManualMappingCuration
MONDO:0007130	congenital total pulmonary venous return anomaly	oboInOwl:hasDbXref	Orphanet:99125	Congenital total pulmonary venous return anomaly	semapv:ManualMappingCuration
MONDO:0007131	anonychia with flexural pigmentation	oboInOwl:hasDbXref	Orphanet:69125	Anonychia with flexural pigmentation	semapv:ManualMappingCuration
MONDO:0007133	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	oboInOwl:hasDbXref	Orphanet:2355	Kumar-Levick syndrome	semapv:ManualMappingCuration
MONDO:0007134	Cooks syndrome	oboInOwl:hasDbXref	Orphanet:1487	Cooks syndrome	semapv:ManualMappingCuration
MONDO:0007137	isolated congenital anosmia	oboInOwl:hasDbXref	Orphanet:88620	Isolated congenital anosmia	semapv:ManualMappingCuration
MONDO:0007142	Townes-Brocks syndrome	oboInOwl:hasDbXref	Orphanet:857	Townes-Brocks syndrome	semapv:ManualMappingCuration
MONDO:0007143	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1110	Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0007145	aplasia cutis congenita	oboInOwl:hasDbXref	Orphanet:1114	Aplasia cutis congenita	semapv:ManualMappingCuration
MONDO:0007154	arteriovenous malformations of the brain	oboInOwl:hasDbXref	Orphanet:46724	Cerebral arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0007158	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0007159	arthrogryposis-like hand anomaly-sensorineural deafness syndrome	oboInOwl:hasDbXref	Orphanet:1144	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0007160	Stickler syndrome type 1	oboInOwl:hasDbXref	Orphanet:90653	Stickler syndrome type 1	semapv:ManualMappingCuration
MONDO:0007163	episodic ataxia type 2	oboInOwl:hasDbXref	Orphanet:97	Familial paroxysmal ataxia	semapv:ManualMappingCuration
MONDO:0007164	spastic ataxia 1	oboInOwl:hasDbXref	Orphanet:251282	Autosomal dominant spastic ataxia type 1	semapv:ManualMappingCuration
MONDO:0007165	spastic ataxia 7	oboInOwl:hasDbXref	Orphanet:1182	Spastic ataxia with congenital miosis	semapv:ManualMappingCuration
MONDO:0007167	atelosteogenesis type I	oboInOwl:hasDbXref	Orphanet:1190	Atelosteogenesis type I	semapv:ManualMappingCuration
MONDO:0007168	atelosteogenesis type III	oboInOwl:hasDbXref	Orphanet:56305	Atelosteogenesis type III	semapv:ManualMappingCuration
MONDO:0007173	atrial septal defect 7	oboInOwl:hasDbXref	Orphanet:1479	Atrial septal defect-atrioventricular conduction defects syndrome	semapv:ManualMappingCuration
MONDO:0007174	Lown-Ganong-Levine syndrome	oboInOwl:hasDbXref	Orphanet:844	Lown-Ganong-Levine syndrome	semapv:ManualMappingCuration
MONDO:0007176	helicoid peripapillary chorioretinal degeneration	oboInOwl:hasDbXref	Orphanet:86813	Helicoid peripapillary chorioretinal degeneration	semapv:ManualMappingCuration
MONDO:0007177	auriculoosteodysplasia	oboInOwl:hasDbXref	Orphanet:114	Auriculoosteodysplasia	semapv:ManualMappingCuration
MONDO:0007178	aurocephalosyndactyly	oboInOwl:hasDbXref	Orphanet:1219	Aurocephalosyndactyly	semapv:ManualMappingCuration
MONDO:0007180	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	oboInOwl:hasDbXref	Orphanet:1831	De Hauwere syndrome	semapv:ManualMappingCuration
MONDO:0007182	Machado-Joseph disease	oboInOwl:hasDbXref	Orphanet:98757	Spinocerebellar ataxia type 3	semapv:ManualMappingCuration
MONDO:0007185	Banki syndrome	oboInOwl:hasDbXref	Orphanet:1228	Banki syndrome	semapv:ManualMappingCuration
MONDO:0007187	nevoid basal cell carcinoma syndrome	oboInOwl:hasDbXref	Orphanet:377	Gorlin syndrome	semapv:ManualMappingCuration
MONDO:0007188	primary basilar invagination	oboInOwl:hasDbXref	Orphanet:2285	Primary basilar invagination	semapv:ManualMappingCuration
MONDO:0007191	Behcet disease	oboInOwl:hasDbXref	Orphanet:117	Behçet disease	semapv:ManualMappingCuration
MONDO:0007194	familial bicuspid aortic valve	oboInOwl:hasDbXref	Orphanet:402075	Familial bicuspid aortic valve	semapv:ManualMappingCuration
MONDO:0007198	Ascher syndrome	oboInOwl:hasDbXref	Orphanet:1253	Ascher syndrome	semapv:ManualMappingCuration
MONDO:0007200	blepharonasofacial malformation syndrome	oboInOwl:hasDbXref	Orphanet:1252	Blepharonasofacial malformation syndrome	semapv:ManualMappingCuration
MONDO:0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome	oboInOwl:hasDbXref	Orphanet:126	Blepharophimosis-ptosis-epicanthus inversus syndrome	semapv:ManualMappingCuration
MONDO:0007202	blepharoptosis-myopia-ectopia lentis syndrome	oboInOwl:hasDbXref	Orphanet:1259	Blepharoptosis-myopia-ectopia lentis syndrome	semapv:ManualMappingCuration
MONDO:0007203	blue rubber bleb nevus	oboInOwl:hasDbXref	Orphanet:1059	Blue rubber bleb nevus	semapv:ManualMappingCuration
MONDO:0007205	diaphyseal medullary stenosis-bone malignancy syndrome	oboInOwl:hasDbXref	Orphanet:85182	Diaphyseal medullary stenosis-bone malignancy syndrome	semapv:ManualMappingCuration
MONDO:0007207	Böök syndrome	oboInOwl:hasDbXref	Orphanet:1262	Böök syndrome	semapv:ManualMappingCuration
MONDO:0007208	Boomerang dysplasia	oboInOwl:hasDbXref	Orphanet:1263	Boomerang dysplasia	semapv:ManualMappingCuration
MONDO:0007209	Weismann-Netter syndrome	oboInOwl:hasDbXref	Orphanet:3344	Weismann-Netter syndrome	semapv:ManualMappingCuration
MONDO:0007211	brachydactyly-arterial hypertension syndrome	oboInOwl:hasDbXref	Orphanet:1276	Brachydactyly-arterial hypertension syndrome	semapv:ManualMappingCuration
MONDO:0007212	brachydactyly-long thumb syndrome	oboInOwl:hasDbXref	Orphanet:2946	Brachydactyly-long thumb syndrome	semapv:ManualMappingCuration
MONDO:0007213	Ballard syndrome	oboInOwl:hasDbXref	Orphanet:93395	Ballard syndrome	semapv:ManualMappingCuration
MONDO:0007214	brachydactyly-preaxial hallux varus syndrome	oboInOwl:hasDbXref	Orphanet:1278	Brachydactyly-preaxial hallux varus syndrome	semapv:ManualMappingCuration
MONDO:0007215	brachydactyly type A1	oboInOwl:hasDbXref	Orphanet:93388	Brachydactyly type A1	semapv:ManualMappingCuration
MONDO:0007216	brachydactyly type A2	oboInOwl:hasDbXref	Orphanet:93396	Brachydactyly type A2	semapv:ManualMappingCuration
MONDO:0007217	brachydactyly type A3	oboInOwl:hasDbXref	Orphanet:93393	NON RARE IN EUROPE: Brachydactyly type A3	semapv:ManualMappingCuration
MONDO:0007218	brachydactyly type A4	oboInOwl:hasDbXref	Orphanet:93394	Brachydactyly type A4	semapv:ManualMappingCuration
MONDO:0007219	Osebold-Remondini syndrome	oboInOwl:hasDbXref	Orphanet:93382	Brachydactyly type A6	semapv:ManualMappingCuration
MONDO:0007220	brachydactyly type B1	oboInOwl:hasDbXref	Orphanet:572385	Brachydactyly type B1	semapv:ManualMappingCuration
MONDO:0007221	brachydactyly type C	oboInOwl:hasDbXref	Orphanet:93384	Brachydactyly type C	semapv:ManualMappingCuration
MONDO:0007222	brachydactyly type D	oboInOwl:hasDbXref	Orphanet:93385	NON RARE IN EUROPE: Brachydactyly type D	semapv:ManualMappingCuration
MONDO:0007225	fibular aplasia-ectrodactyly syndrome	oboInOwl:hasDbXref	Orphanet:1118	Fibular aplasia-ectrodactyly syndrome	semapv:ManualMappingCuration
MONDO:0007226	brachydactyly-nystagmus-cerebellar ataxia syndrome	oboInOwl:hasDbXref	Orphanet:1246	Brachydactyly-nystagmus-cerebellar ataxia syndrome	semapv:ManualMappingCuration
MONDO:0007227	Sillence syndrome	oboInOwl:hasDbXref	Orphanet:3168	Sillence syndrome	semapv:ManualMappingCuration
MONDO:0007230	Brachymorphism-onychodysplasia-dysphalangism syndrome	oboInOwl:hasDbXref	Orphanet:1292	Brachymorphism-onychodysplasia-dysphalangism syndrome	semapv:ManualMappingCuration
MONDO:0007231	brachytelephalangy-dysmorphism-Kallmann syndrome	oboInOwl:hasDbXref	Orphanet:1295	Brachytelephalangy-dysmorphism-Kallmann syndrome	semapv:ManualMappingCuration
MONDO:0007232	autosomal dominant brachyolmia	oboInOwl:hasDbXref	Orphanet:93304	Autosomal dominant brachyolmia	semapv:ManualMappingCuration
MONDO:0007233	second branchial cleft anomaly	oboInOwl:hasDbXref	Orphanet:141022	Second branchial cleft anomaly	semapv:ManualMappingCuration
MONDO:0007235	branchiooculofacial syndrome	oboInOwl:hasDbXref	Orphanet:1297	Branchio-oculo-facial syndrome	semapv:ManualMappingCuration
MONDO:0007237	familial juvenile hypertrophy of the breast	oboInOwl:hasDbXref	Orphanet:180176	Familial juvenile hypertrophy of the breast	semapv:ManualMappingCuration
MONDO:0007243	Burkitt lymphoma	oboInOwl:hasDbXref	Orphanet:543	Burkitt lymphoma	semapv:ManualMappingCuration
MONDO:0007244	Caffey disease	oboInOwl:hasDbXref	Orphanet:1310	Caffey disease	semapv:ManualMappingCuration
MONDO:0007245	cafe au lait spots, multiple	oboInOwl:hasDbXref	Orphanet:2678	Familial isolated café-au-lait macules	semapv:ManualMappingCuration
MONDO:0007248	hereditary painful callosities	oboInOwl:hasDbXref	Orphanet:79141	Hereditary painful callosities	semapv:ManualMappingCuration
MONDO:0007249	camptobrachydactyly	oboInOwl:hasDbXref	Orphanet:1319	Camptobrachydactyly	semapv:ManualMappingCuration
MONDO:0007250	camptodactyly of fingers	oboInOwl:hasDbXref	Orphanet:295016	Camptodactyly of fingers	semapv:ManualMappingCuration
MONDO:0007251	campomelic dysplasia	oboInOwl:hasDbXref	Orphanet:140	Campomelic dysplasia	semapv:ManualMappingCuration
MONDO:0007252	Gordon syndrome	oboInOwl:hasDbXref	Orphanet:376	Gordon syndrome	semapv:ManualMappingCuration
MONDO:0007256	hepatocellular carcinoma	oboInOwl:hasDbXref	Orphanet:88673	Hepatocellular carcinoma	semapv:ManualMappingCuration
MONDO:0007259	craniofaciofrontodigital syndrome	oboInOwl:hasDbXref	Orphanet:363705	Craniofaciofrontodigital syndrome	semapv:ManualMappingCuration
MONDO:0007269	dilated cardiomyopathy 1A	oboInOwl:hasDbXref	Orphanet:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	semapv:ManualMappingCuration
MONDO:0007271	familial cutaneous collagenoma	oboInOwl:hasDbXref	Orphanet:53296	Familial cutaneous collagenoma	semapv:ManualMappingCuration
MONDO:0007272	hereditary hypercarotenemia and vitamin A deficiency	oboInOwl:hasDbXref	Orphanet:199285	Hereditary hypercarotenemia and vitamin A deficiency	semapv:ManualMappingCuration
MONDO:0007275	carpal tunnel syndrome	oboInOwl:hasDbXref	Orphanet:50838	NON RARE IN EUROPE: Carpal tunnel syndrome	semapv:ManualMappingCuration
MONDO:0007276	cat-eye syndrome	oboInOwl:hasDbXref	Orphanet:195	Cat-eye syndrome	semapv:ManualMappingCuration
MONDO:0007277	cataract-aberrant oral frenula-growth delay syndrome	oboInOwl:hasDbXref	Orphanet:1373	Cataract-aberrant oral frenula-growth delay syndrome	semapv:ManualMappingCuration
MONDO:0007280	cataract 8 multiple types	oboInOwl:hasDbXref	Orphanet:98983	OBSOLETE: Congenital cataract, Volkmann type	semapv:ManualMappingCuration
MONDO:0007293	leukocyte adhesion deficiency 1	oboInOwl:hasDbXref	Orphanet:99842	Leukocyte adhesion deficiency type I	semapv:ManualMappingCuration
MONDO:0007294	central core myopathy	oboInOwl:hasDbXref	Orphanet:597	Central core disease	semapv:ManualMappingCuration
MONDO:0007295	self-limited epilepsy with centrotemporal spikes	oboInOwl:hasDbXref	Orphanet:1945	Self-limited epilepsy with centrotemporal spikes	semapv:ManualMappingCuration
MONDO:0007296	spinocerebellar ataxia type 31	oboInOwl:hasDbXref	Orphanet:217012	Spinocerebellar ataxia type 31	semapv:ManualMappingCuration
MONDO:0007297	ADan amyloidosis	oboInOwl:hasDbXref	Orphanet:97346	ADan amyloidosis	semapv:ManualMappingCuration
MONDO:0007298	spinocerebellar ataxia type 29	oboInOwl:hasDbXref	Orphanet:208513	Spinocerebellar ataxia type 29	semapv:ManualMappingCuration
MONDO:0007301	cerebrocostomandibular syndrome	oboInOwl:hasDbXref	Orphanet:1393	Cerebrocostomandibular syndrome	semapv:ManualMappingCuration
MONDO:0007307	Charcot-Marie-Tooth disease type 1B	oboInOwl:hasDbXref	Orphanet:101082	Charcot-Marie-Tooth disease type 1B	semapv:ManualMappingCuration
MONDO:0007308	Charcot-Marie-Tooth disease type 2A1	oboInOwl:hasDbXref	Orphanet:99946	Autosomal dominant Charcot-Marie-Tooth disease type 2A1	semapv:ManualMappingCuration
MONDO:0007309	Charcot-Marie-Tooth disease type 1A	oboInOwl:hasDbXref	Orphanet:101081	Charcot-Marie-Tooth disease type 1A	semapv:ManualMappingCuration
MONDO:0007311	Charcot-Marie-Tooth disease type 1E	oboInOwl:hasDbXref	Orphanet:90658	Charcot-Marie-Tooth disease type 1E	semapv:ManualMappingCuration
MONDO:0007313	cheilitis glandularis	oboInOwl:hasDbXref	Orphanet:1221	Cheilitis glandularis	semapv:ManualMappingCuration
MONDO:0007315	cherubism	oboInOwl:hasDbXref	Orphanet:184	Cherubism	semapv:ManualMappingCuration
MONDO:0007316	Chiari malformation type I	oboInOwl:hasDbXref	Orphanet:268882	Arnold-Chiari malformation type I	semapv:ManualMappingCuration
MONDO:0007318	Alagille syndrome	oboInOwl:hasDbXref	Orphanet:52	Alagille syndrome	semapv:ManualMappingCuration
MONDO:0007319	chondrocalcinosis 2	oboInOwl:hasDbXref	Orphanet:1416	Familial calcium pyrophosphate deposition	semapv:ManualMappingCuration
MONDO:0007321	autosomal dominant chondrodysplasia punctata	oboInOwl:hasDbXref	Orphanet:79344	OBSOLETE: Chondrodysplasia punctata, Sheffield type	semapv:ManualMappingCuration
MONDO:0007322	chondrodysplasia punctata, tibial-metacarpal type	oboInOwl:hasDbXref	Orphanet:79346	Chondrodysplasia punctata, tibial-metacarpal type	semapv:ManualMappingCuration
MONDO:0007330	congenital pseudoarthrosis of clavicle	oboInOwl:hasDbXref	Orphanet:66630	Congenital pseudoarthrosis of the clavicle	semapv:ManualMappingCuration
MONDO:0007334	autosomal dominant popliteal pterygium syndrome	oboInOwl:hasDbXref	Orphanet:1300	Autosomal dominant popliteal pterygium syndrome	semapv:ManualMappingCuration
MONDO:0007337	cleft palate-lateral synechia syndrome	oboInOwl:hasDbXref	Orphanet:2016	Cleft palate-lateral synechia syndrome	semapv:ManualMappingCuration
MONDO:0007338	cleft soft palate	oboInOwl:hasDbXref	Orphanet:99772	Cleft velum	semapv:ManualMappingCuration
MONDO:0007339	blepharocheilodontic syndrome	oboInOwl:hasDbXref	Orphanet:1997	Blepharo-cheilo-odontic syndrome	semapv:ManualMappingCuration
MONDO:0007340	cleidocranial dysplasia 1	oboInOwl:hasDbXref	Orphanet:1452	Cleidocranial dysplasia	semapv:ManualMappingCuration
MONDO:0007341	cleidorhizomelic syndrome	oboInOwl:hasDbXref	Orphanet:1453	Cleidorhizomelic syndrome	semapv:ManualMappingCuration
MONDO:0007343	isolated congenital digital clubbing	oboInOwl:hasDbXref	Orphanet:217059	Isolated nail clubbing	semapv:ManualMappingCuration
MONDO:0007345	aorta coarctation	oboInOwl:hasDbXref	Orphanet:1457	Aorta coarctation	semapv:ManualMappingCuration
MONDO:0007346	cochleosaccular degeneration-cataract syndrome	oboInOwl:hasDbXref	Orphanet:3233	Cochleosaccular degeneration-cataract syndrome	semapv:ManualMappingCuration
MONDO:0007351	coloboma of macula	oboInOwl:hasDbXref	Orphanet:98945	Coloboma of macula	semapv:ManualMappingCuration
MONDO:0007352	renal coloboma syndrome	oboInOwl:hasDbXref	Orphanet:1475	Renal coloboma syndrome	semapv:ManualMappingCuration
MONDO:0007353	coloboma of macula-brachydactyly type B syndrome	oboInOwl:hasDbXref	Orphanet:1471	Coloboma of macula-brachydactyly type B syndrome	semapv:ManualMappingCuration
MONDO:0007354	coloboma of optic nerve	oboInOwl:hasDbXref	Orphanet:98947	Coloboma of optic disc	semapv:ManualMappingCuration
MONDO:0007355	uveal coloboma-cleft lip and palate-intellectual disability	oboInOwl:hasDbXref	Orphanet:1473	Uveal coloboma-cleft lip and palate-intellectual disability	semapv:ManualMappingCuration
MONDO:0007361	C1 inhibitor deficiency	oboInOwl:hasDbXref	Orphanet:459353	OBSOLETE: C1 inhibitor deficiency	semapv:ManualMappingCuration
MONDO:0007363	congenital contractural arachnodactyly	oboInOwl:hasDbXref	Orphanet:115	Congenital contractural arachnodactyly	semapv:ManualMappingCuration
MONDO:0007368	familial benign copper deficiency	oboInOwl:hasDbXref	Orphanet:1551	Familial benign copper deficiency	semapv:ManualMappingCuration
MONDO:0007369	hereditary coproporphyria	oboInOwl:hasDbXref	Orphanet:79273	Hereditary coproporphyria	semapv:ManualMappingCuration
MONDO:0007374	Schnyder corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98967	Schnyder corneal dystrophy	semapv:ManualMappingCuration
MONDO:0007375	epithelial basement membrane dystrophy	oboInOwl:hasDbXref	Orphanet:98956	Epithelial basement membrane dystrophy	semapv:ManualMappingCuration
MONDO:0007376	fleck corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98970	Fleck corneal dystrophy	semapv:ManualMappingCuration
MONDO:0007377	granular corneal dystrophy type I	oboInOwl:hasDbXref	Orphanet:98962	Granular corneal dystrophy type I	semapv:ManualMappingCuration
MONDO:0007379	Meesmann corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98954	Meesmann corneal dystrophy	semapv:ManualMappingCuration
MONDO:0007380	lattice corneal dystrophy type I	oboInOwl:hasDbXref	Orphanet:98964	Lattice corneal dystrophy type I	semapv:ManualMappingCuration
MONDO:0007381	epithelial recurrent erosion dystrophy	oboInOwl:hasDbXref	Orphanet:293381	Epithelial recurrent erosion dystrophy	semapv:ManualMappingCuration
MONDO:0007382	Ramos-Arroyo syndrome	oboInOwl:hasDbXref	Orphanet:1051	Ramos-Arroyo syndrome	semapv:ManualMappingCuration
MONDO:0007383	Stern-Lubinsky-Durrie syndrome	oboInOwl:hasDbXref	Orphanet:3194	Corneodermatoosseous syndrome	semapv:ManualMappingCuration
MONDO:0007384	congenital trigeminal anesthesia	oboInOwl:hasDbXref	Orphanet:231013	Congenital trigeminal anesthesia	semapv:ManualMappingCuration
MONDO:0007385	idiopathic spontaneous coronary artery dissection	oboInOwl:hasDbXref	Orphanet:458718	Idiopathic spontaneous coronary artery dissection	semapv:ManualMappingCuration
MONDO:0007388	congenitally short costocoracoid ligament	oboInOwl:hasDbXref	Orphanet:2391	Congenitally short costocoracoid ligament	semapv:ManualMappingCuration
MONDO:0007392	coxoauricular syndrome	oboInOwl:hasDbXref	Orphanet:1508	Coxoauricular syndrome	semapv:ManualMappingCuration
MONDO:0007393	cranioacrofacial syndrome	oboInOwl:hasDbXref	Orphanet:1339	OBSOLETE: Cranioacrofacial syndrome	semapv:ManualMappingCuration
MONDO:0007395	craniofacial-deafness-hand syndrome	oboInOwl:hasDbXref	Orphanet:1529	Craniofacial-deafness-hand syndrome	semapv:ManualMappingCuration
MONDO:0007396	dysostosis, Stanescu type	oboInOwl:hasDbXref	Orphanet:1798	Craniofacial dysostosis-diaphyseal hyperplasia syndrome	semapv:ManualMappingCuration
MONDO:0007398	craniorhiny	oboInOwl:hasDbXref	Orphanet:157832	Craniorhiny	semapv:ManualMappingCuration
MONDO:0007400	Jackson-Weiss syndrome	oboInOwl:hasDbXref	Orphanet:1540	Jackson-Weiss syndrome	semapv:ManualMappingCuration
MONDO:0007401	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	oboInOwl:hasDbXref	Orphanet:1538	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	semapv:ManualMappingCuration
MONDO:0007403	inherited Creutzfeldt-Jakob disease	oboInOwl:hasDbXref	Orphanet:282166	Inherited Creutzfeldt-Jakob disease	semapv:ManualMappingCuration
MONDO:0007404	Cri-du-chat syndrome	oboInOwl:hasDbXref	Orphanet:281	Monosomy 5p syndrome	semapv:ManualMappingCuration
MONDO:0007405	Crouzon syndrome	oboInOwl:hasDbXref	Orphanet:207	Crouzon syndrome	semapv:ManualMappingCuration
MONDO:0007407	Cryoglobulinemic vasculitis	oboInOwl:hasDbXref	Orphanet:91138	Cryoglobulinemic vasculitis	semapv:ManualMappingCuration
MONDO:0007409	cryptomicrotia-brachydactyly-excess fingertip arch syndrome	oboInOwl:hasDbXref	Orphanet:1547	Cryptomicrotia-brachydactyly-excess fingertip arch syndrome	semapv:ManualMappingCuration
MONDO:0007410	isolated cryptophthalmia	oboInOwl:hasDbXref	Orphanet:91396	Isolated cryptophthalmia	semapv:ManualMappingCuration
MONDO:0007412	Beare-Stevenson cutis gyrata syndrome	oboInOwl:hasDbXref	Orphanet:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	semapv:ManualMappingCuration
MONDO:0007413	Cyprus facial-neuromusculoskeletal syndrome	oboInOwl:hasDbXref	Orphanet:2674	Cyprus facial-neuromusculoskeletal syndrome	semapv:ManualMappingCuration
MONDO:0007414	Gorham-Stout disease	oboInOwl:hasDbXref	Orphanet:73	Gorham-Stout disease	semapv:ManualMappingCuration
MONDO:0007417	Darier disease	oboInOwl:hasDbXref	Orphanet:218	Darier disease	semapv:ManualMappingCuration
MONDO:0007420	autosomal dominant deafness - onychodystrophy syndrome	oboInOwl:hasDbXref	Orphanet:79499	Autosomal dominant deafness-onychodystrophy syndrome	semapv:ManualMappingCuration
MONDO:0007421	deafness-ear malformation-facial palsy syndrome	oboInOwl:hasDbXref	Orphanet:3232	Deafness-ear malformation-facial palsy syndrome	semapv:ManualMappingCuration
MONDO:0007422	keratoderma hereditarium mutilans	oboInOwl:hasDbXref	Orphanet:494	Keratoderma hereditarium mutilans	semapv:ManualMappingCuration
MONDO:0007428	deafness-craniofacial syndrome	oboInOwl:hasDbXref	Orphanet:3241	Deafness-craniofacial syndrome	semapv:ManualMappingCuration
MONDO:0007434	primary failure of tooth eruption	oboInOwl:hasDbXref	Orphanet:412206	Primary failure of tooth eruption	semapv:ManualMappingCuration
MONDO:0007435	dentatorubral-pallidoluysian atrophy	oboInOwl:hasDbXref	Orphanet:101	Dentatorubral pallidoluysian atrophy	semapv:ManualMappingCuration
MONDO:0007436	dentin dysplasia type I	oboInOwl:hasDbXref	Orphanet:99789	Dentin dysplasia type I	semapv:ManualMappingCuration
MONDO:0007437	dentin dysplasia type II	oboInOwl:hasDbXref	Orphanet:99791	Dentin dysplasia type II	semapv:ManualMappingCuration
MONDO:0007438	dentin dysplasia-sclerotic bones syndrome	oboInOwl:hasDbXref	Orphanet:99792	Dentin dysplasia-sclerotic bones syndrome	semapv:ManualMappingCuration
MONDO:0007441	dentinogenesis imperfecta type 2	oboInOwl:hasDbXref	Orphanet:166260	Dentinogenesis imperfecta type 2	semapv:ManualMappingCuration
MONDO:0007442	dentinogenesis imperfecta type 3	oboInOwl:hasDbXref	Orphanet:166265	Dentinogenesis imperfecta type 3	semapv:ManualMappingCuration
MONDO:0007443	congenital unilateral hypoplasia of depressor anguli oris	oboInOwl:hasDbXref	Orphanet:1166	Congenital unilateral hypoplasia of depressor anguli oris	semapv:ManualMappingCuration
MONDO:0007445	dermatopathia pigmentosa reticularis	oboInOwl:hasDbXref	Orphanet:86920	Dermatopathia pigmentosa reticularis	semapv:ManualMappingCuration
MONDO:0007447	autosomal dominant vibratory urticaria	oboInOwl:hasDbXref	Orphanet:493342	Vibratory urticaria	semapv:ManualMappingCuration
MONDO:0007449	dermo-odonto dysplasia	oboInOwl:hasDbXref	Orphanet:1660	Dermoodontodysplasia	semapv:ManualMappingCuration
MONDO:0007450	neurohypophyseal diabetes insipidus	oboInOwl:hasDbXref	Orphanet:30925	Hereditary arginine vasopressin deficiency	semapv:ManualMappingCuration
MONDO:0007461	short stature-valvular heart disease-characteristic facies syndrome	oboInOwl:hasDbXref	Orphanet:2868	Short stature-valvular heart disease-characteristic facies syndrome	semapv:ManualMappingCuration
MONDO:0007464	obsolete isolated distichiasis	oboInOwl:hasDbXref	Orphanet:99177	Isolated distichiasis	semapv:ManualMappingCuration
MONDO:0007465	distichiasis with congenital anomalies of the heart and peripheral vasculature	oboInOwl:hasDbXref	Orphanet:1683	Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome	semapv:ManualMappingCuration
MONDO:0007470	calvarial doughnut lesions-bone fragility syndrome	oboInOwl:hasDbXref	Orphanet:85192	Calvarial doughnut lesions-bone fragility syndrome	semapv:ManualMappingCuration
MONDO:0007471	Doyne honeycomb retinal dystrophy	oboInOwl:hasDbXref	Orphanet:75376	Familial drusen	semapv:ManualMappingCuration
MONDO:0007473	Duane retraction syndrome	oboInOwl:hasDbXref	Orphanet:233	Duane retraction syndrome	semapv:ManualMappingCuration
MONDO:0007476	familial Dupuytren contracture	oboInOwl:hasDbXref	Orphanet:79142	NON RARE IN EUROPE: Familial Dupuytren contracture	semapv:ManualMappingCuration
MONDO:0007477	3-M syndrome	oboInOwl:hasDbXref	Orphanet:2616	3M syndrome	semapv:ManualMappingCuration
MONDO:0007478	autosomal dominant Kenny-Caffey syndrome	oboInOwl:hasDbXref	Orphanet:93325	Autosomal dominant Kenny-Caffey syndrome	semapv:ManualMappingCuration
MONDO:0007480	dwarfism with stiff joints and ocular abnormalities	oboInOwl:hasDbXref	Orphanet:2569	Moore-Federman syndrome	semapv:ManualMappingCuration
MONDO:0007481	Leri-Weill dyschondrosteosis	oboInOwl:hasDbXref	Orphanet:240	Léri-Weill dyschondrosteosis	semapv:ManualMappingCuration
MONDO:0007482	dyschondrosteosis-nephritis syndrome	oboInOwl:hasDbXref	Orphanet:1765	OBSOLETE: Dyschondrosteosis-nephritis syndrome	semapv:ManualMappingCuration
MONDO:0007483	dyschromatosis symmetrica hereditaria	oboInOwl:hasDbXref	Orphanet:41	Dyschromatosis symmetrica hereditaria	semapv:ManualMappingCuration
MONDO:0007486	hereditary benign intraepithelial dyskeratosis	oboInOwl:hasDbXref	Orphanet:352657	Hereditary benign intraepithelial dyskeratosis	semapv:ManualMappingCuration
MONDO:0007488	Lewy body dementia	oboInOwl:hasDbXref	Orphanet:1648	NON RARE IN EUROPE: Dementia with Lewy body	semapv:ManualMappingCuration
MONDO:0007489	dysplasia epiphysealis hemimelica	oboInOwl:hasDbXref	Orphanet:1822	Dysplasia epiphysealis hemimelica	semapv:ManualMappingCuration
MONDO:0007490	carpotarsal osteochondromatosis	oboInOwl:hasDbXref	Orphanet:2767	Carpotarsal osteochondromatosis	semapv:ManualMappingCuration
MONDO:0007492	early-onset generalized limb-onset dystonia	oboInOwl:hasDbXref	Orphanet:256	Early-onset generalized limb-onset dystonia	semapv:ManualMappingCuration
MONDO:0007493	torsion dystonia 4	oboInOwl:hasDbXref	Orphanet:98805	Primary dystonia, DYT4 type	semapv:ManualMappingCuration
MONDO:0007496	dystonia 12	oboInOwl:hasDbXref	Orphanet:71517	Rapid-onset dystonia-parkinsonism	semapv:ManualMappingCuration
MONDO:0007504	thickened earlobes-conductive deafness syndrome	oboInOwl:hasDbXref	Orphanet:2405	Thickened earlobes-conductive deafness syndrome	semapv:ManualMappingCuration
MONDO:0007507	absence of fingerprints-congenital milia syndrome	oboInOwl:hasDbXref	Orphanet:1658	Absence of fingerprints-congenital milia syndrome	semapv:ManualMappingCuration
MONDO:0007508	Rapp-Hodgkin syndrome	oboInOwl:hasDbXref	Orphanet:3022	Rapp-Hodgkin syndrome	semapv:ManualMappingCuration
MONDO:0007510	Clouston syndrome	oboInOwl:hasDbXref	Orphanet:189	Hidrotic ectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0007511	ectodermal dysplasia, trichoodontoonychial type	oboInOwl:hasDbXref	Orphanet:1818	Ectodermal dysplasia, trichoodontoonychial type	semapv:ManualMappingCuration
MONDO:0007513	ectodermal dysplasia with adrenal cyst	oboInOwl:hasDbXref	Orphanet:3391	Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome	semapv:ManualMappingCuration
MONDO:0007516	ectrodactyly and ectodermal dysplasia without cleft lip/palate	oboInOwl:hasDbXref	Orphanet:1888	Ectrodactyly-ectodermal dysplasia without clefting syndrome	semapv:ManualMappingCuration
MONDO:0007517	ectrodactyly-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:1889	Ectrodactyly-cleft palate syndrome	semapv:ManualMappingCuration
MONDO:0007519	Edinburgh malformation syndrome	oboInOwl:hasDbXref	Orphanet:1895	Edinburgh malformation syndrome	semapv:ManualMappingCuration
MONDO:0007522	Ehlers-Danlos syndrome, classic type	oboInOwl:hasDbXref	Orphanet:287	Classical Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0007523	Ehlers-Danlos syndrome, hypermobility type	oboInOwl:hasDbXref	Orphanet:285	Hypermobile Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0007525	Ehlers-Danlos syndrome, arthrochalasia type	oboInOwl:hasDbXref	Orphanet:1899	Arthrochalasia Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0007526	Ehlers-Danlos syndrome, spondylodysplastic type	oboInOwl:hasDbXref	Orphanet:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0007527	Ehlers-Danlos syndrome, periodontitis type	oboInOwl:hasDbXref	Orphanet:75392	Periodontal Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0007529	elastosis perforans serpiginosa	oboInOwl:hasDbXref	Orphanet:79148	Elastosis perforans serpiginosa	semapv:ManualMappingCuration
MONDO:0007534	Beckwith-Wiedemann syndrome	oboInOwl:hasDbXref	Orphanet:116	Beckwith-Wiedemann syndrome	semapv:ManualMappingCuration
MONDO:0007536	congenital lobar emphysema	oboInOwl:hasDbXref	Orphanet:1928	Congenital lobar emphysema	semapv:ManualMappingCuration
MONDO:0007537	lateral meningocele syndrome	oboInOwl:hasDbXref	Orphanet:2789	Lateral meningocele syndrome	semapv:ManualMappingCuration
MONDO:0007539	encephalopathy, recurrent, of childhood	oboInOwl:hasDbXref	Orphanet:2672	Neuhauser-Eichner-Opitz syndrome	semapv:ManualMappingCuration
MONDO:0007540	multiple endocrine neoplasia type 1	oboInOwl:hasDbXref	Orphanet:652	Multiple endocrine neoplasia type 1	semapv:ManualMappingCuration
MONDO:0007542	Camurati-Engelmann disease	oboInOwl:hasDbXref	Orphanet:1328	Camurati-Engelmann disease	semapv:ManualMappingCuration
MONDO:0007548	transient bullous dermolysis of the newborn	oboInOwl:hasDbXref	Orphanet:79411	Self-improving dystrophic epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0007549	generalized dominant dystrophic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0007550	epidermolysis bullosa simplex 1A, generalized severe	oboInOwl:hasDbXref	Orphanet:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	semapv:ManualMappingCuration
MONDO:0007551	epidermolysis bullosa simplex 1C, localized	oboInOwl:hasDbXref	Orphanet:79400	Localized epidermolysis bullosa simplex	semapv:ManualMappingCuration
MONDO:0007552	pretibial dystrophic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:79410	Localized dystrophic epidermolysis bullosa, pretibial form	semapv:ManualMappingCuration
MONDO:0007554	epidermolysis bullosa simplex 1B, generalized intermediate	oboInOwl:hasDbXref	Orphanet:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	semapv:ManualMappingCuration
MONDO:0007555	epidermolysis bullosa simplex 5A, Ogna type	oboInOwl:hasDbXref	Orphanet:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	semapv:ManualMappingCuration
MONDO:0007556	epidermolysis bullosa simplex 2F, with mottled pigmentation	oboInOwl:hasDbXref	Orphanet:79397	Epidermolysis bullosa simplex with mottled pigmentation	semapv:ManualMappingCuration
MONDO:0007558	self-limited childhood occipital epilepsy	oboInOwl:hasDbXref	Orphanet:25968	Self-limited childhood occipital epilepsy	semapv:ManualMappingCuration
MONDO:0007560	reading seizures	oboInOwl:hasDbXref	Orphanet:166433	Reading seizures	semapv:ManualMappingCuration
MONDO:0007561	multiple epiphyseal dysplasia type 1	oboInOwl:hasDbXref	Orphanet:93308	Multiple epiphyseal dysplasia type 1	semapv:ManualMappingCuration
MONDO:0007562	multiple epiphyseal dysplasia, Beighton type	oboInOwl:hasDbXref	Orphanet:166011	Multiple epiphyseal dysplasia, Beighton type	semapv:ManualMappingCuration
MONDO:0007564	pilomatrixoma	oboInOwl:hasDbXref	Orphanet:91414	Pilomatrixoma	semapv:ManualMappingCuration
MONDO:0007565	familial cylindromatosis	oboInOwl:hasDbXref	Orphanet:211	Familial cylindromatosis	semapv:ManualMappingCuration
MONDO:0007566	multiple self-healing squamous epithelioma	oboInOwl:hasDbXref	Orphanet:65748	Multiple self-healing squamous epithelioma	semapv:ManualMappingCuration
MONDO:0007570	erythema palmare hereditarium	oboInOwl:hasDbXref	Orphanet:231031	Erythema palmare hereditarium	semapv:ManualMappingCuration
MONDO:0007571	primary erythermalgia	oboInOwl:hasDbXref	Orphanet:90026	Primary erythromelalgia	semapv:ManualMappingCuration
MONDO:0007572	primary familial polycythemia due to EPO receptor mutation	oboInOwl:hasDbXref	Orphanet:90042	Primary familial polycythemia	semapv:ManualMappingCuration
MONDO:0007574	spinocerebellar ataxia type 34	oboInOwl:hasDbXref	Orphanet:1955	Spinocerebellar ataxia type 34	semapv:ManualMappingCuration
MONDO:0007584	exostoses-anetodermia-brachydactyly type E syndrome	oboInOwl:hasDbXref	Orphanet:1962	Exostoses-anetodermia-brachydactyly type E syndrome	semapv:ManualMappingCuration
MONDO:0007587	external auditory canal atresia-vertical talus-hypertelorism syndrome	oboInOwl:hasDbXref	Orphanet:3023	External auditory canal atresia-vertical talus-hypertelorism syndrome	semapv:ManualMappingCuration
MONDO:0007588	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:1964	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0007590	hemifacial hypertrophy	oboInOwl:hasDbXref	Orphanet:141145	Hemifacial hyperplasia	semapv:ManualMappingCuration
MONDO:0007592	familial recurrent peripheral facial palsy	oboInOwl:hasDbXref	Orphanet:2809	Familial recurrent peripheral facial palsy	semapv:ManualMappingCuration
MONDO:0007600	primary Fanconi syndrome	oboInOwl:hasDbXref	Orphanet:3337	Primary Fanconi renotubular syndrome	semapv:ManualMappingCuration
MONDO:0007603	Felty syndrome	oboInOwl:hasDbXref	Orphanet:47612	Felty syndrome	semapv:ManualMappingCuration
MONDO:0007604	femoral-facial syndrome	oboInOwl:hasDbXref	Orphanet:1988	Femoral-facial syndrome	semapv:ManualMappingCuration
MONDO:0007606	fibrodysplasia ossificans progressiva	oboInOwl:hasDbXref	Orphanet:337	Fibrodysplasia ossificans progressiva	semapv:ManualMappingCuration
MONDO:0007608	desmoid tumor	oboInOwl:hasDbXref	Orphanet:873	Desmoid tumor	semapv:ManualMappingCuration
MONDO:0007610	gingival fibromatosis-hypertrichosis syndrome	oboInOwl:hasDbXref	Orphanet:2026	Gingival fibromatosis-hypertrichosis syndrome	semapv:ManualMappingCuration
MONDO:0007612	gingival fibromatosis-progressive deafness syndrome	oboInOwl:hasDbXref	Orphanet:2027	Gingival fibromatosis-progressive deafness syndrome	semapv:ManualMappingCuration
MONDO:0007614	congenital fibrosis of extraocular muscles	oboInOwl:hasDbXref	Orphanet:45358	Congenital fibrosis of extraocular muscles	semapv:ManualMappingCuration
MONDO:0007615	laurin-Sandrow syndrome	oboInOwl:hasDbXref	Orphanet:2378	Laurin-Sandrow syndrome	semapv:ManualMappingCuration
MONDO:0007618	Eng-Strom syndrome	oboInOwl:hasDbXref	Orphanet:1937	Eng-Strom syndrome	semapv:ManualMappingCuration
MONDO:0007619	isolated congenital adermatoglyphia	oboInOwl:hasDbXref	Orphanet:289465	Isolated congenital adermatoglyphia	semapv:ManualMappingCuration
MONDO:0007620	fish eye disease	oboInOwl:hasDbXref	Orphanet:79292	Fish-eye disease	semapv:ManualMappingCuration
MONDO:0007621	Floating-Harbor syndrome	oboInOwl:hasDbXref	Orphanet:2044	Floating-Harbor syndrome	semapv:ManualMappingCuration
MONDO:0007624	Flynn-Aird syndrome	oboInOwl:hasDbXref	Orphanet:2047	Flynn-Aird syndrome	semapv:ManualMappingCuration
MONDO:0007626	familial congenital palsy of trochlear nerve	oboInOwl:hasDbXref	Orphanet:91498	Familial congenital palsy of trochlear nerve	semapv:ManualMappingCuration
MONDO:0007627	focal facial dermal dysplasia type I	oboInOwl:hasDbXref	Orphanet:79133	Focal facial dermal dysplasia type I	semapv:ManualMappingCuration
MONDO:0007630	North Carolina macular dystrophy	oboInOwl:hasDbXref	Orphanet:75327	North Carolina macular dystrophy	semapv:ManualMappingCuration
MONDO:0007635	Frasier syndrome	oboInOwl:hasDbXref	Orphanet:347	Frasier syndrome	semapv:ManualMappingCuration
MONDO:0007636	frontorhiny	oboInOwl:hasDbXref	Orphanet:391474	Frontorhiny	semapv:ManualMappingCuration
MONDO:0007639	fundus albipunctatus	oboInOwl:hasDbXref	Orphanet:227796	Fundus albipunctatus	semapv:ManualMappingCuration
MONDO:0007640	Sorsby fundus dystrophy	oboInOwl:hasDbXref	Orphanet:59181	Sorsby pseudoinflammatory fundus dystrophy	semapv:ManualMappingCuration
MONDO:0007642	isolated agenesis of gallbladder	oboInOwl:hasDbXref	Orphanet:440987	Isolated agenesis of gallbladder	semapv:ManualMappingCuration
MONDO:0007646	Gamstorp-Wohlfart syndrome	oboInOwl:hasDbXref	Orphanet:324442	Autosomal recessive axonal neuropathy with neuromyotonia	semapv:ManualMappingCuration
MONDO:0007648	hereditary diffuse gastric adenocarcinoma	oboInOwl:hasDbXref	Orphanet:26106	Hereditary diffuse gastric cancer	semapv:ManualMappingCuration
MONDO:0007650	MALT lymphoma	oboInOwl:hasDbXref	Orphanet:52417	MALT lymphoma	semapv:ManualMappingCuration
MONDO:0007651	gastrocutaneous syndrome	oboInOwl:hasDbXref	Orphanet:2069	Gastrocutaneous syndrome	semapv:ManualMappingCuration
MONDO:0007652	gastric mucosal hypertrophy	oboInOwl:hasDbXref	Orphanet:2494	Ménétrier disease	semapv:ManualMappingCuration
MONDO:0007656	Gerstmann-Straussler-Scheinker syndrome	oboInOwl:hasDbXref	Orphanet:356	Gerstmann-Straussler-Scheinker syndrome	semapv:ManualMappingCuration
MONDO:0007660	familial ossifying fibroma	oboInOwl:hasDbXref	Orphanet:435329	Familial ossifying fibroma	semapv:ManualMappingCuration
MONDO:0007661	Tourette syndrome	oboInOwl:hasDbXref	Orphanet:856	NON RARE IN EUROPE: Tourette syndrome	semapv:ManualMappingCuration
MONDO:0007666	glaucoma-sleep apnea syndrome	oboInOwl:hasDbXref	Orphanet:2085	Glaucoma-sleep apnea syndrome	semapv:ManualMappingCuration
MONDO:0007667	subependymoma	oboInOwl:hasDbXref	Orphanet:251639	Subependymoma	semapv:ManualMappingCuration
MONDO:0007669	renal cysts and diabetes syndrome	oboInOwl:hasDbXref	Orphanet:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	semapv:ManualMappingCuration
MONDO:0007670	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	oboInOwl:hasDbXref	Orphanet:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	semapv:ManualMappingCuration
MONDO:0007671	fibronectin glomerulopathy	oboInOwl:hasDbXref	Orphanet:84090	Fibronectin glomerulopathy	semapv:ManualMappingCuration
MONDO:0007672	glomuvenous malformation	oboInOwl:hasDbXref	Orphanet:83454	Glomuvenous malformation	semapv:ManualMappingCuration
MONDO:0007679	GMS syndrome	oboInOwl:hasDbXref	Orphanet:2090	GMS syndrome	semapv:ManualMappingCuration
MONDO:0007680	multinodular goiter-cystic kidney-polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:2091	Multinodular goiter-cystic kidney-polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0007681	goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	oboInOwl:hasDbXref	Orphanet:276399	Familial multinodular goiter	semapv:ManualMappingCuration
MONDO:0007683	Grant syndrome	oboInOwl:hasDbXref	Orphanet:2097	Grant syndrome	semapv:ManualMappingCuration
MONDO:0007686	gray platelet syndrome	oboInOwl:hasDbXref	Orphanet:721	Gray platelet syndrome	semapv:ManualMappingCuration
MONDO:0007688	Myhre syndrome	oboInOwl:hasDbXref	Orphanet:2588	Myhre syndrome	semapv:ManualMappingCuration
MONDO:0007690	aromatase excess syndrome	oboInOwl:hasDbXref	Orphanet:178345	Aromatase excess syndrome	semapv:ManualMappingCuration
MONDO:0007693	hypertrichosis cubiti-short stature syndrome	oboInOwl:hasDbXref	Orphanet:2220	Hypertrichosis cubiti	semapv:ManualMappingCuration
MONDO:0007696	Emery-Nelson syndrome	oboInOwl:hasDbXref	Orphanet:1927	Emery-Nelson syndrome	semapv:ManualMappingCuration
MONDO:0007698	hand-foot-genital syndrome	oboInOwl:hasDbXref	Orphanet:2438	Hand-foot-genital syndrome	semapv:ManualMappingCuration
MONDO:0007699	Hashimoto thyroiditis	oboInOwl:hasDbXref	Orphanet:855	NON RARE IN EUROPE: Hashimoto thyroiditis	semapv:ManualMappingCuration
MONDO:0007700	hawkinsinuria	oboInOwl:hasDbXref	Orphanet:2118	Hawkinsinuria	semapv:ManualMappingCuration
MONDO:0007702	heart-hand syndrome type 3	oboInOwl:hasDbXref	Orphanet:1342	Heart-hand syndrome type 3	semapv:ManualMappingCuration
MONDO:0007705	Heinz body anemia	oboInOwl:hasDbXref	Orphanet:178330	OBSOLETE: Heinz body anemia	semapv:ManualMappingCuration
MONDO:0007706	cavernous hemangiomas of face-supraumbilical midline raphe syndrome	oboInOwl:hasDbXref	Orphanet:2124	Cavernous hemangiomas of face-supraumbilical midline raphe syndrome	semapv:ManualMappingCuration
MONDO:0007708	Kasabach-Merritt syndrome	oboInOwl:hasDbXref	Orphanet:2330	Kasabach-Merritt phenomenon	semapv:ManualMappingCuration
MONDO:0007710	facial hemiatrophy	oboInOwl:hasDbXref	Orphanet:1214	Progressive hemifacial atrophy	semapv:ManualMappingCuration
MONDO:0007711	Bencze syndrome	oboInOwl:hasDbXref	Orphanet:1241	Bencze syndrome	semapv:ManualMappingCuration
MONDO:0007712	oculoauriculovertebral spectrum with radial defects	oboInOwl:hasDbXref	Orphanet:2549	Oculoauriculovertebral spectrum with radial defects	semapv:ManualMappingCuration
MONDO:0007713	clonic hemifacial spasm	oboInOwl:hasDbXref	Orphanet:221083	Hemifacial spasm	semapv:ManualMappingCuration
MONDO:0007716	alpha thalassemia-intellectual disability syndrome type 1	oboInOwl:hasDbXref	Orphanet:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	semapv:ManualMappingCuration
MONDO:0007724	hirsutism-skeletal dysplasia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2156	OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0007725	hereditary progressive mucinous histiocytosis	oboInOwl:hasDbXref	Orphanet:158025	Hereditary progressive mucinous histiocytosis	semapv:ManualMappingCuration
MONDO:0007726	hip dysplasia, Beukes type	oboInOwl:hasDbXref	Orphanet:2114	Hip dysplasia, Beukes type	semapv:ManualMappingCuration
MONDO:0007727	TNF receptor 1-associated periodic fever syndrome	oboInOwl:hasDbXref	Orphanet:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	semapv:ManualMappingCuration
MONDO:0007732	Holt-Oram syndrome	oboInOwl:hasDbXref	Orphanet:392	Holt-Oram syndrome	semapv:ManualMappingCuration
MONDO:0007735	congenital Horner syndrome	oboInOwl:hasDbXref	Orphanet:91413	Congenital Horner syndrome	semapv:ManualMappingCuration
MONDO:0007737	humeroradial synostosis	oboInOwl:hasDbXref	Orphanet:3265	Isolated humero-radial synostosis	semapv:ManualMappingCuration
MONDO:0007738	spondyloepiphyseal dysplasia with congenital joint dislocations	oboInOwl:hasDbXref	Orphanet:263463	CHST3-related skeletal dysplasia	semapv:ManualMappingCuration
MONDO:0007739	Huntington disease	oboInOwl:hasDbXref	Orphanet:399	Huntington disease	semapv:ManualMappingCuration
MONDO:0007740	Wagner disease	oboInOwl:hasDbXref	Orphanet:898	Wagner disease	semapv:ManualMappingCuration
MONDO:0007741	congenital hydronephrosis	oboInOwl:hasDbXref	Orphanet:2190	OBSOLETE: Congenital hydronephrosis	semapv:ManualMappingCuration
MONDO:0007744	cholesterol-ester transfer protein deficiency	oboInOwl:hasDbXref	Orphanet:79506	OBSOLETE: Cholesterol-ester transfer protein deficiency	semapv:ManualMappingCuration
MONDO:0007745	Gilbert syndrome	oboInOwl:hasDbXref	Orphanet:357	NON RARE IN EUROPE: Gilbert syndrome	semapv:ManualMappingCuration
MONDO:0007747	isolated hyperchlorhidrosis	oboInOwl:hasDbXref	Orphanet:542657	Isolated hyperchlorhidrosis	semapv:ManualMappingCuration
MONDO:0007753	Frey syndrome	oboInOwl:hasDbXref	Orphanet:662240	Frey syndrome	semapv:ManualMappingCuration
MONDO:0007756	hyperkeratosis lenticularis perstans	oboInOwl:hasDbXref	Orphanet:409	Hyperkeratosis lenticularis perstans	semapv:ManualMappingCuration
MONDO:0007757	hyperkeratosis-hyperpigmentation syndrome	oboInOwl:hasDbXref	Orphanet:1336	Hyperkeratosis-hyperpigmentation syndrome	semapv:ManualMappingCuration
MONDO:0007758	epidermolytic palmoplantar keratoderma, 1	oboInOwl:hasDbXref	Orphanet:2199	Epidermolytic palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0007761	obsolete hyperlipoproteinemia type IV	oboInOwl:hasDbXref	Orphanet:413	NON RARE IN EUROPE: Hyperlipoproteinemia type 4	semapv:ManualMappingCuration
MONDO:0007762	hyperlipoproteinemia type V	oboInOwl:hasDbXref	Orphanet:530849	Familial apolipoprotein A5 deficiency	semapv:ManualMappingCuration
MONDO:0007762	hyperlipoproteinemia type V	oboInOwl:hasDbXref	Orphanet:70470	OBSOLETE: Hyperlipoproteinemia type 5	semapv:ManualMappingCuration
MONDO:0007764	autosomal dominant osteosclerosis, Worth type	oboInOwl:hasDbXref	Orphanet:2790	Endosteal hyperostosis, Worth type	semapv:ManualMappingCuration
MONDO:0007765	hyperostosis cranialis interna	oboInOwl:hasDbXref	Orphanet:443098	Hyperostosis cranialis interna	semapv:ManualMappingCuration
MONDO:0007766	Morgagni-Stewart-Morel syndrome	oboInOwl:hasDbXref	Orphanet:77296	Morgagni-Stewart-Morel syndrome	semapv:ManualMappingCuration
MONDO:0007768	hyperparathyroidism 2 with jaw tumors	oboInOwl:hasDbXref	Orphanet:99880	Hyperparathyroidism-jaw tumor syndrome	semapv:ManualMappingCuration
MONDO:0007772	pseudohypoaldosteronism type 2A	oboInOwl:hasDbXref	Orphanet:88938	Pseudohypoaldosteronism type 2A	semapv:ManualMappingCuration
MONDO:0007779	obsolete autosomal dominant Opitz G/BBB syndrome	oboInOwl:hasDbXref	Orphanet:306588	OBSOLETE: Autosomal dominant Opitz G/BBB syndrome	semapv:ManualMappingCuration
MONDO:0007784	selective pituitary resistance to thyroid hormone	oboInOwl:hasDbXref	Orphanet:165994	Pituitary resistance to thyroid hormone	semapv:ManualMappingCuration
MONDO:0007787	Ambras type hypertrichosis universalis congenita	oboInOwl:hasDbXref	Orphanet:1023	Congenital generalized hypertrichosis, Ambras type	semapv:ManualMappingCuration
MONDO:0007790	Charcot-Marie-Tooth disease type 3	oboInOwl:hasDbXref	Orphanet:64748	Dejerine-Sottas syndrome	semapv:ManualMappingCuration
MONDO:0007791	familial hypocalciuric hypercalcemia 1	oboInOwl:hasDbXref	Orphanet:93372	Familial hypocalciuric hypercalcemia type 1	semapv:ManualMappingCuration
MONDO:0007792	familial hypocalciuric hypercalcemia 2	oboInOwl:hasDbXref	Orphanet:101049	Familial hypocalciuric hypercalcemia type 2	semapv:ManualMappingCuration
MONDO:0007793	hypochondroplasia	oboInOwl:hasDbXref	Orphanet:429	Hypochondroplasia	semapv:ManualMappingCuration
MONDO:0007795	mullerian duct anomalies-limb anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2491	Müllerian duct anomalies-limb anomalies syndrome	semapv:ManualMappingCuration
MONDO:0007797	hypoparathyroidism-deafness-renal disease syndrome	oboInOwl:hasDbXref	Orphanet:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	semapv:ManualMappingCuration
MONDO:0007798	obsolete adult hypophosphatasia	oboInOwl:hasDbXref	Orphanet:247676	Adult hypophosphatasia	semapv:ManualMappingCuration
MONDO:0007800	chromosome 18p deletion syndrome	oboInOwl:hasDbXref	Orphanet:1598	Monosomy 18p syndrome	semapv:ManualMappingCuration
MONDO:0007800	chromosome 18p deletion syndrome	oboInOwl:hasDbXref	Orphanet:261974	Partial deletion of the short arm of chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0007803	multiple system atrophy	oboInOwl:hasDbXref	Orphanet:102	Multiple system atrophy	semapv:ManualMappingCuration
MONDO:0007804	Pallister-Hall syndrome	oboInOwl:hasDbXref	Orphanet:672	Pallister-Hall syndrome	semapv:ManualMappingCuration
MONDO:0007808	ichthyosis hystrix of Curth-Macklin	oboInOwl:hasDbXref	Orphanet:79503	Ichthyosis hystrix of Curth-Macklin	semapv:ManualMappingCuration
MONDO:0007809	ichthyosis histrix, Lambert type	oboInOwl:hasDbXref	Orphanet:79504	Ichthyosis hystrix gravior	semapv:ManualMappingCuration
MONDO:0007810	autosomal dominant ichthyosis vulgaris	oboInOwl:hasDbXref	Orphanet:462	NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris	semapv:ManualMappingCuration
MONDO:0007811	ichthyosis-cheek-eyebrow syndrome	oboInOwl:hasDbXref	Orphanet:2267	OBSOLETE: Ichthyosis-cheek-eyebrow syndrome	semapv:ManualMappingCuration
MONDO:0007813	superficial epidermolytic ichthyosis	oboInOwl:hasDbXref	Orphanet:455	Superficial epidermolytic ichthyosis	semapv:ManualMappingCuration
MONDO:0007818	hyper-IgE recurrent infection syndrome 1, autosomal dominant	oboInOwl:hasDbXref	Orphanet:2314	Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency	semapv:ManualMappingCuration
MONDO:0007819	solitary median maxillary central incisor syndrome	oboInOwl:hasDbXref	Orphanet:2286	OBSOLETE: Solitary median maxillary central incisor syndrome	semapv:ManualMappingCuration
MONDO:0007820	fused mandibular incisors	oboInOwl:hasDbXref	Orphanet:2287	Fused mandibular incisors	semapv:ManualMappingCuration
MONDO:0007827	inclusion body myositis	oboInOwl:hasDbXref	Orphanet:611	Inclusion body myositis	semapv:ManualMappingCuration
MONDO:0007836	IVIC syndrome	oboInOwl:hasDbXref	Orphanet:2307	IVIC syndrome	semapv:ManualMappingCuration
MONDO:0007837	Johnson neuroectodermal syndrome	oboInOwl:hasDbXref	Orphanet:2316	Johnson neuroectodermal syndrome	semapv:ManualMappingCuration
MONDO:0007838	Jacobsen syndrome	oboInOwl:hasDbXref	Orphanet:2308	Jacobsen syndrome	semapv:ManualMappingCuration
MONDO:0007839	Aase-Smith syndrome	oboInOwl:hasDbXref	Orphanet:916	Aase-Smith syndrome	semapv:ManualMappingCuration
MONDO:0007841	coxopodopatellar syndrome	oboInOwl:hasDbXref	Orphanet:1509	Coxopodopatellar syndrome	semapv:ManualMappingCuration
MONDO:0007842	joint laxity, familial	oboInOwl:hasDbXref	Orphanet:2295	Familial articular hypermobility syndrome	semapv:ManualMappingCuration
MONDO:0007846	KBG syndrome	oboInOwl:hasDbXref	Orphanet:2332	KBG syndrome	semapv:ManualMappingCuration
MONDO:0007848	autosomal dominant keratitis	oboInOwl:hasDbXref	Orphanet:2334	Autosomal dominant keratitis	semapv:ManualMappingCuration
MONDO:0007849	keratitis fugax hereditaria	oboInOwl:hasDbXref	Orphanet:647815	Keratitis fugax hereditaria	semapv:ManualMappingCuration
MONDO:0007852	palmoplantar keratoderma-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2202	Palmoplantar keratoderma-deafness syndrome	semapv:ManualMappingCuration
MONDO:0007853	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:538574	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0007854	keratolytic winter erythema	oboInOwl:hasDbXref	Orphanet:50943	Keratolytic winter erythema	semapv:ManualMappingCuration
MONDO:0007856	palmoplantar keratoderma-esophageal carcinoma syndrome	oboInOwl:hasDbXref	Orphanet:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	semapv:ManualMappingCuration
MONDO:0007857	keratosis palmaris et plantaris-clinodactyly syndrome	oboInOwl:hasDbXref	Orphanet:86919	Keratosis palmaris et plantaris-clinodactyly syndrome	semapv:ManualMappingCuration
MONDO:0007860	focal palmoplantar and gingival keratoderma	oboInOwl:hasDbXref	Orphanet:2200	Focal palmoplantar and gingival keratoderma	semapv:ManualMappingCuration
MONDO:0007861	isolated cloverleaf skull syndrome	oboInOwl:hasDbXref	Orphanet:2343	OBSOLETE: Isolated cloverleaf skull syndrome	semapv:ManualMappingCuration
MONDO:0007862	Waardenburg syndrome type 3	oboInOwl:hasDbXref	Orphanet:896	Waardenburg syndrome type 3	semapv:ManualMappingCuration
MONDO:0007863	Kleine-Levin syndrome	oboInOwl:hasDbXref	Orphanet:33543	Kleine-Levin syndrome	semapv:ManualMappingCuration
MONDO:0007864	angioosteohypertrophic syndrome	oboInOwl:hasDbXref	Orphanet:2346	Angioosteohypertrophic syndrome	semapv:ManualMappingCuration
MONDO:0007864	angioosteohypertrophic syndrome	oboInOwl:hasDbXref	Orphanet:90308	Klippel-Trénaunay syndrome	semapv:ManualMappingCuration
MONDO:0007866	Bart-Pumphrey syndrome	oboInOwl:hasDbXref	Orphanet:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	semapv:ManualMappingCuration
MONDO:0007871	familial congenital nasolacrimal duct obstruction	oboInOwl:hasDbXref	Orphanet:451612	Familial congenital nasolacrimal duct obstruction	semapv:ManualMappingCuration
MONDO:0007872	LADD syndrome	oboInOwl:hasDbXref	Orphanet:2363	Lacrimoauriculodentodigital syndrome	semapv:ManualMappingCuration
MONDO:0007874	trichorhinophalangeal syndrome type II	oboInOwl:hasDbXref	Orphanet:502	Trichorhinophalangeal syndrome type 2	semapv:ManualMappingCuration
MONDO:0007875	Larsen syndrome	oboInOwl:hasDbXref	Orphanet:503	Larsen syndrome	semapv:ManualMappingCuration
MONDO:0007876	laryngeal abductor paralysis	oboInOwl:hasDbXref	Orphanet:2808	Laryngeal abductor paralysis	semapv:ManualMappingCuration
MONDO:0007878	congenital laryngomalacia	oboInOwl:hasDbXref	Orphanet:2373	Congenital laryngomalacia	semapv:ManualMappingCuration
MONDO:0007879	larynx atresia	oboInOwl:hasDbXref	Orphanet:1202	Larynx atresia	semapv:ManualMappingCuration
MONDO:0007880	congenital laryngeal web	oboInOwl:hasDbXref	Orphanet:2374	Isolated congenital laryngeal web	semapv:ManualMappingCuration
MONDO:0007883	periodic fever, immunodeficiency, and thrombocytopenia syndrome	oboInOwl:hasDbXref	Orphanet:652522	Periodic fever-immunodeficiency-thrombocytopenia syndrome	semapv:ManualMappingCuration
MONDO:0007885	Legg-Calve-Perthes disease	oboInOwl:hasDbXref	Orphanet:2380	Legg-Calvé-Perthes disease	semapv:ManualMappingCuration
MONDO:0007888	hereditary leiomyomatosis and renal cell cancer	oboInOwl:hasDbXref	Orphanet:523	Hereditary leiomyomatosis and renal cell cancer	semapv:ManualMappingCuration
MONDO:0007891	familial generalized lentiginosis	oboInOwl:hasDbXref	Orphanet:231040	Familial generalized lentiginosis	semapv:ManualMappingCuration
MONDO:0007892	Lenz-Majewski hyperostotic dwarfism	oboInOwl:hasDbXref	Orphanet:2658	Lenz-Majewski hyperostotic dwarfism	semapv:ManualMappingCuration
MONDO:0007893	Noonan syndrome with multiple lentigines	oboInOwl:hasDbXref	Orphanet:500	Noonan syndrome with multiple lentigines	semapv:ManualMappingCuration
MONDO:0007894	Leri pleonosteosis	oboInOwl:hasDbXref	Orphanet:2900	Leri pleonosteosis	semapv:ManualMappingCuration
MONDO:0007895	platyspondylic dysplasia, Torrance type	oboInOwl:hasDbXref	Orphanet:85166	Platyspondylic dysplasia, Torrance type	semapv:ManualMappingCuration
MONDO:0007896	acute monocytic leukemia	oboInOwl:hasDbXref	Orphanet:514	Acute monoblastic/monocytic leukemia	semapv:ManualMappingCuration
MONDO:0007899	lichen sclerosus et atrophicus	oboInOwl:hasDbXref	Orphanet:33409	NON RARE IN EUROPE: Lichen sclerosus	semapv:ManualMappingCuration
MONDO:0007904	median nodule of the upper lip	oboInOwl:hasDbXref	Orphanet:2699	Median nodule of the upper lip	semapv:ManualMappingCuration
MONDO:0007906	familial partial lipodystrophy, Dunnigan type	oboInOwl:hasDbXref	Orphanet:2348	Familial partial lipodystrophy, Dunnigan type	semapv:ManualMappingCuration
MONDO:0007908	multiple symmetric lipomatosis	oboInOwl:hasDbXref	Orphanet:2398	Multiple symmetric lipomatosis	semapv:ManualMappingCuration
MONDO:0007909	familial multiple lipomatosis	oboInOwl:hasDbXref	Orphanet:199276	Familial multiple lipomatosis	semapv:ManualMappingCuration
MONDO:0007915	systemic lupus erythematosus	oboInOwl:hasDbXref	Orphanet:536	Systemic lupus erythematosus	semapv:ManualMappingCuration
MONDO:0007916	primary intestinal lymphangiectasia	oboInOwl:hasDbXref	Orphanet:90362	Primary intestinal lymphangiectasia	semapv:ManualMappingCuration
MONDO:0007917	lymphedema-cerebral arteriovenous anomaly syndrome	oboInOwl:hasDbXref	Orphanet:86914	Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome	semapv:ManualMappingCuration
MONDO:0007918	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	oboInOwl:hasDbXref	Orphanet:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	semapv:ManualMappingCuration
MONDO:0007919	lymphatic malformation 1	oboInOwl:hasDbXref	Orphanet:79452	Milroy disease	semapv:ManualMappingCuration
MONDO:0007920	lymphatic malformation 5	oboInOwl:hasDbXref	Orphanet:90186	Meige disease	semapv:ManualMappingCuration
MONDO:0007921	yellow nail syndrome	oboInOwl:hasDbXref	Orphanet:662	Lymphedema with yellow nails	semapv:ManualMappingCuration
MONDO:0007922	lymphedema-distichiasis syndrome	oboInOwl:hasDbXref	Orphanet:33001	Lymphedema-distichiasis syndrome	semapv:ManualMappingCuration
MONDO:0007924	Bannayan-Riley-Ruvalcaba syndrome	oboInOwl:hasDbXref	Orphanet:109	Bannayan-Riley-Ruvalcaba syndrome	semapv:ManualMappingCuration
MONDO:0007925	myelodysplastic syndrome associated with isolated del(5q)	oboInOwl:hasDbXref	Orphanet:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	semapv:ManualMappingCuration
MONDO:0007927	congenital macroglossia	oboInOwl:hasDbXref	Orphanet:2430	Congenital macroglossia	semapv:ManualMappingCuration
MONDO:0007931	vitelliform macular dystrophy 2	oboInOwl:hasDbXref	Orphanet:1243	Best vitelliform macular dystrophy	semapv:ManualMappingCuration
MONDO:0007934	benign concentric annular macular dystrophy	oboInOwl:hasDbXref	Orphanet:251287	Benign concentric annular macular dystrophy	semapv:ManualMappingCuration
MONDO:0007935	cystoid macular edema	oboInOwl:hasDbXref	Orphanet:75381	Cystoid macular dystrophy	semapv:ManualMappingCuration
MONDO:0007937	renal hypomagnesemia 2	oboInOwl:hasDbXref	Orphanet:34528	Autosomal dominant primary hypomagnesemia with hypocalciuria	semapv:ManualMappingCuration
MONDO:0007943	Nager acrofacial dysostosis	oboInOwl:hasDbXref	Orphanet:245	Nager syndrome	semapv:ManualMappingCuration
MONDO:0007946	jaw-winking syndrome	oboInOwl:hasDbXref	Orphanet:91412	Marcus-Gunn syndrome	semapv:ManualMappingCuration
MONDO:0007947	Marfan syndrome	oboInOwl:hasDbXref	Orphanet:284963	Marfan syndrome type 1	semapv:ManualMappingCuration
MONDO:0007947	Marfan syndrome	oboInOwl:hasDbXref	Orphanet:558	Marfan syndrome	semapv:ManualMappingCuration
MONDO:0007949	Marshall syndrome	oboInOwl:hasDbXref	Orphanet:560	Marshall syndrome	semapv:ManualMappingCuration
MONDO:0007950	mastocytosis	oboInOwl:hasDbXref	Orphanet:98292	Mastocytosis	semapv:ManualMappingCuration
MONDO:0007953	Binder syndrome	oboInOwl:hasDbXref	Orphanet:1248	Maxillonasal dysplasia	semapv:ManualMappingCuration
MONDO:0007956	Pai syndrome	oboInOwl:hasDbXref	Orphanet:1993	Pai syndrome	semapv:ManualMappingCuration
MONDO:0007958	familial medullary thyroid carcinoma	oboInOwl:hasDbXref	Orphanet:99361	Familial medullary thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0007959	medulloblastoma	oboInOwl:hasDbXref	Orphanet:616	Medulloblastoma	semapv:ManualMappingCuration
MONDO:0007967	melanoma and neural system tumor syndrome	oboInOwl:hasDbXref	Orphanet:252206	Melanoma and neural system tumor syndrome	semapv:ManualMappingCuration
MONDO:0007969	Melkersson-Rosenthal syndrome	oboInOwl:hasDbXref	Orphanet:2483	Melkersson-Rosenthal syndrome	semapv:ManualMappingCuration
MONDO:0007970	melorheostosis	oboInOwl:hasDbXref	Orphanet:2485	Melorheostosis	semapv:ManualMappingCuration
MONDO:0007971	delayed membranous cranial ossification	oboInOwl:hasDbXref	Orphanet:3034	Delayed membranous cranial ossification	semapv:ManualMappingCuration
MONDO:0007972	Meniere disease	oboInOwl:hasDbXref	Orphanet:45360	NON RARE IN EUROPE: Menière disease	semapv:ManualMappingCuration
MONDO:0007977	mesomelic dysplasia, Kantaputra type	oboInOwl:hasDbXref	Orphanet:1836	Mesomelic dysplasia, Kantaputra type	semapv:ManualMappingCuration
MONDO:0007979	metachondromatosis	oboInOwl:hasDbXref	Orphanet:2499	Metachondromatosis	semapv:ManualMappingCuration
MONDO:0007982	metaphyseal chondrodysplasia, Jansen type	oboInOwl:hasDbXref	Orphanet:33067	Metaphyseal chondrodysplasia, Jansen type	semapv:ManualMappingCuration
MONDO:0007983	Schmid metaphyseal chondrodysplasia	oboInOwl:hasDbXref	Orphanet:174	Metaphyseal chondrodysplasia, Schmid type	semapv:ManualMappingCuration
MONDO:0007984	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	oboInOwl:hasDbXref	Orphanet:2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	semapv:ManualMappingCuration
MONDO:0007986	metatropic dysplasia	oboInOwl:hasDbXref	Orphanet:2635	Metatropic dysplasia	semapv:ManualMappingCuration
MONDO:0007987	Kniest dysplasia	oboInOwl:hasDbXref	Orphanet:485	Kniest dysplasia	semapv:ManualMappingCuration
MONDO:0007988	autosomal dominant primary microcephaly	oboInOwl:hasDbXref	Orphanet:2514	Autosomal dominant primary microcephaly	semapv:ManualMappingCuration
MONDO:0007989	congenital microcoria	oboInOwl:hasDbXref	Orphanet:566	Congenital microcoria	semapv:ManualMappingCuration
MONDO:0007990	multiple benign circumferential skin creases on limbs	oboInOwl:hasDbXref	Orphanet:2505	Multiple benign circumferential skin creases on limbs	semapv:ManualMappingCuration
MONDO:0007991	microcephaly-deafness-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2533	Microcephaly-deafness-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0007992	microcornea-glaucoma-absent frontal sinuses syndrome	oboInOwl:hasDbXref	Orphanet:2536	Microcornea-glaucoma-absent frontal sinuses syndrome	semapv:ManualMappingCuration
MONDO:0007993	microgastria-limb reduction defect syndrome	oboInOwl:hasDbXref	Orphanet:2538	Microgastria-limb reduction defect syndrome	semapv:ManualMappingCuration
MONDO:0007998	microspherophakia-metaphyseal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:2551	Microspherophakia-metaphyseal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0008003	autosomal dominant progressive external ophthalmoplegia	oboInOwl:hasDbXref	Orphanet:254892	Autosomal dominant progressive external ophthalmoplegia	semapv:ManualMappingCuration
MONDO:0008004	familial mitral valve prolapse	oboInOwl:hasDbXref	Orphanet:741	Familial mitral valve prolapse	semapv:ManualMappingCuration
MONDO:0008005	cardiospondylocarpofacial syndrome	oboInOwl:hasDbXref	Orphanet:3238	Cardiospondylocarpofacial syndrome	semapv:ManualMappingCuration
MONDO:0008006	Mobius syndrome	oboInOwl:hasDbXref	Orphanet:570	Moebius syndrome	semapv:ManualMappingCuration
MONDO:0008007	tooth ankylosis	oboInOwl:hasDbXref	Orphanet:1077	Dental ankylosis	semapv:ManualMappingCuration
MONDO:0008008	MOMO syndrome	oboInOwl:hasDbXref	Orphanet:2563	MOMO syndrome	semapv:ManualMappingCuration
MONDO:0008009	monilethrix	oboInOwl:hasDbXref	Orphanet:573	Monilethrix	semapv:ManualMappingCuration
MONDO:0008013	chromosome 9p deletion syndrome	oboInOwl:hasDbXref	Orphanet:261112	Monosomy 9p syndrome	semapv:ManualMappingCuration
MONDO:0008016	trismus-pseudocamptodactyly syndrome	oboInOwl:hasDbXref	Orphanet:3377	Trismus-pseudocamptodactyly syndrome	semapv:ManualMappingCuration
MONDO:0008017	hereditary mucoepithelial dysplasia	oboInOwl:hasDbXref	Orphanet:1839	Hereditary mucoepithelial dysplasia	semapv:ManualMappingCuration
MONDO:0008018	Muir-Torre syndrome	oboInOwl:hasDbXref	Orphanet:587	Muir-Torre syndrome	semapv:ManualMappingCuration
MONDO:0008019	mullerian aplasia and hyperandrogenism	oboInOwl:hasDbXref	Orphanet:247768	Müllerian aplasia and hyperandrogenism	semapv:ManualMappingCuration
MONDO:0008023	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	oboInOwl:hasDbXref	Orphanet:2579	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	semapv:ManualMappingCuration
MONDO:0008026	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	oboInOwl:hasDbXref	Orphanet:209341	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0008029	Bethlem myopathy	oboInOwl:hasDbXref	Orphanet:610	Bethlem muscular dystrophy	semapv:ManualMappingCuration
MONDO:0008038	ataxia-pancytopenia syndrome	oboInOwl:hasDbXref	Orphanet:2585	Ataxia-pancytopenia syndrome	semapv:ManualMappingCuration
MONDO:0008039	tropical spastic paraparesis	oboInOwl:hasDbXref	Orphanet:289326	Tropical spastic paraparesis	semapv:ManualMappingCuration
MONDO:0008040	transient myeloproliferative syndrome	oboInOwl:hasDbXref	Orphanet:420611	Transient myeloproliferative syndrome	semapv:ManualMappingCuration
MONDO:0008043	myoclonus-cerebellar ataxia-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2589	Myoclonus-cerebellar ataxia-deafness syndrome	semapv:ManualMappingCuration
MONDO:0008045	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0008046	autosomal dominant myoglobinuria	oboInOwl:hasDbXref	Orphanet:99846	Autosomal dominant myoglobinuria	semapv:ManualMappingCuration
MONDO:0008047	episodic ataxia type 1	oboInOwl:hasDbXref	Orphanet:37612	Episodic ataxia type 1	semapv:ManualMappingCuration
MONDO:0008048	autosomal dominant centronuclear myopathy	oboInOwl:hasDbXref	Orphanet:169189	Autosomal dominant centronuclear myopathy	semapv:ManualMappingCuration
MONDO:0008050	MYH7-related skeletal myopathy	oboInOwl:hasDbXref	Orphanet:59135	Laing distal myopathy	semapv:ManualMappingCuration
MONDO:0008051	tubular aggregate myopathy	oboInOwl:hasDbXref	Orphanet:2593	Tubular aggregate myopathy	semapv:ManualMappingCuration
MONDO:0008054	juvenile dermatomyositis	oboInOwl:hasDbXref	Orphanet:93672	Juvenile dermatomyositis	semapv:ManualMappingCuration
MONDO:0008056	myotonic dystrophy type 1	oboInOwl:hasDbXref	Orphanet:273	Steinert myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0008058	cylindrical spirals myopathy	oboInOwl:hasDbXref	Orphanet:171886	Cylindrical spirals myopathy	semapv:ManualMappingCuration
MONDO:0008059	Naegeli-Franceschetti-Jadassohn syndrome	oboInOwl:hasDbXref	Orphanet:69087	Naegeli-Franceschetti-Jadassohn syndrome	semapv:ManualMappingCuration
MONDO:0008060	nonsyndromic congenital nail disorder 1	oboInOwl:hasDbXref	Orphanet:79153	Idiopathic trachyonychia	semapv:ManualMappingCuration
MONDO:0008061	nail-patella syndrome	oboInOwl:hasDbXref	Orphanet:2614	Nail-patella syndrome	semapv:ManualMappingCuration
MONDO:0008070	congenital myopathy 2a, typical, autosomal dominant	oboInOwl:hasDbXref	Orphanet:98904	Congenital myopathy with excess of thin filaments	semapv:ManualMappingCuration
MONDO:0008071	autosomal dominant progressive nephropathy with hypertension	oboInOwl:hasDbXref	Orphanet:88659	Autosomal dominant progressive nephropathy with hypertension	semapv:ManualMappingCuration
MONDO:0008073	familial juvenile hyperuricemic nephropathy type 1	oboInOwl:hasDbXref	Orphanet:209886	OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1	semapv:ManualMappingCuration
MONDO:0008073	familial juvenile hyperuricemic nephropathy type 1	oboInOwl:hasDbXref	Orphanet:88950	UMOD-related autosomal dominant tubulointerstitial kidney disease	semapv:ManualMappingCuration
MONDO:0008075	schwannomatosis	oboInOwl:hasDbXref	Orphanet:93921	Full schwannomatosis	semapv:ManualMappingCuration
MONDO:0008082	multiple endocrine neoplasia type 2B	oboInOwl:hasDbXref	Orphanet:247709	Multiple endocrine neoplasia type 2B	semapv:ManualMappingCuration
MONDO:0008083	ceroid lipofuscinosis, neuronal, 4 (Kufs type)	oboInOwl:hasDbXref	Orphanet:228343	CLN4 disease	semapv:ManualMappingCuration
MONDO:0008087	hereditary neuropathy with liability to pressure palsies	oboInOwl:hasDbXref	Orphanet:640	Hereditary neuropathy with liability to pressure palsies	semapv:ManualMappingCuration
MONDO:0008090	cyclic hematopoiesis	oboInOwl:hasDbXref	Orphanet:2686	Cyclic neutropenia	semapv:ManualMappingCuration
MONDO:0008092	hereditary neutrophilia	oboInOwl:hasDbXref	Orphanet:279943	Hereditary neutrophilia	semapv:ManualMappingCuration
MONDO:0008094	familial multiple nevi flammei	oboInOwl:hasDbXref	Orphanet:624	Familial multiple nevi flammei	semapv:ManualMappingCuration
MONDO:0008097	linear nevus sebaceous syndrome	oboInOwl:hasDbXref	Orphanet:2612	Linear nevus sebaceus syndrome	semapv:ManualMappingCuration
MONDO:0008098	mesomelic dwarfism, Nievergelt type	oboInOwl:hasDbXref	Orphanet:2633	Mesomelic dysplasia, Nievergelt type	semapv:ManualMappingCuration
MONDO:0008101	familial supernumerary nipples	oboInOwl:hasDbXref	Orphanet:2456	Familial supernumerary nipples	semapv:ManualMappingCuration
MONDO:0008108	oculocerebrocutaneous syndrome	oboInOwl:hasDbXref	Orphanet:1647	Oculocerebrocutaneous syndrome	semapv:ManualMappingCuration
MONDO:0008109	ocular cicatricial pemphigoid	oboInOwl:hasDbXref	Orphanet:99922	Ocular cicatricial pemphigoid	semapv:ManualMappingCuration
MONDO:0008111	oculodentodigital dysplasia	oboInOwl:hasDbXref	Orphanet:2710	Oculodentodigital dysplasia	semapv:ManualMappingCuration
MONDO:0008113	Schilbach-Rott syndrome	oboInOwl:hasDbXref	Orphanet:2353	Schilbach-Rott syndrome	semapv:ManualMappingCuration
MONDO:0008115	Feingold syndrome type 1	oboInOwl:hasDbXref	Orphanet:391641	Feingold syndrome type 1	semapv:ManualMappingCuration
MONDO:0008116	oculopharyngeal muscular dystrophy	oboInOwl:hasDbXref	Orphanet:270	Oculopharyngeal muscular dystrophy	semapv:ManualMappingCuration
MONDO:0008118	odontomatosis-aortae esophagus stenosis syndrome	oboInOwl:hasDbXref	Orphanet:2724	Odontomatosis-aortae esophagus stenosis syndrome	semapv:ManualMappingCuration
MONDO:0008119	spinocerebellar ataxia type 1	oboInOwl:hasDbXref	Orphanet:98755	Spinocerebellar ataxia type 1	semapv:ManualMappingCuration
MONDO:0008123	autosomal dominant omodysplasia	oboInOwl:hasDbXref	Orphanet:93328	Autosomal dominant omodysplasia	semapv:ManualMappingCuration
MONDO:0008127	ophthalmomandibulomelic dysplasia	oboInOwl:hasDbXref	Orphanet:2741	Ophthalmomandibulomelic dysplasia	semapv:ManualMappingCuration
MONDO:0008130	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	oboInOwl:hasDbXref	Orphanet:2743	Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	semapv:ManualMappingCuration
MONDO:0008133	optic atrophy 3	oboInOwl:hasDbXref	Orphanet:67036	Autosomal dominant optic atrophy and cataract	semapv:ManualMappingCuration
MONDO:0008134	autosomal dominant optic atrophy, classic form	oboInOwl:hasDbXref	Orphanet:98673	Autosomal dominant optic atrophy, classic form	semapv:ManualMappingCuration
MONDO:0008136	isolated optic nerve hypoplasia	oboInOwl:hasDbXref	Orphanet:137902	OBSOLETE: Isolated optic nerve hypoplasia/aplasia	semapv:ManualMappingCuration
MONDO:0008136	isolated optic nerve hypoplasia	oboInOwl:hasDbXref	Orphanet:637061	Isolated optic nerve hypoplasia	semapv:ManualMappingCuration
MONDO:0008137	orofaciodigital syndrome X	oboInOwl:hasDbXref	Orphanet:2756	OBSOLETE: Orofaciodigital syndrome type 10	semapv:ManualMappingCuration
MONDO:0008138	syndromic orbital border hypoplasia	oboInOwl:hasDbXref	Orphanet:98606	Syndromic orbital border hypoplasia	semapv:ManualMappingCuration
MONDO:0008139	OSLAM syndrome	oboInOwl:hasDbXref	Orphanet:2760	OSLAM syndrome	semapv:ManualMappingCuration
MONDO:0008142	Thiemann disease, familial form	oboInOwl:hasDbXref	Orphanet:3314	Thiemann disease, familial form	semapv:ManualMappingCuration
MONDO:0008145	Ollier disease	oboInOwl:hasDbXref	Orphanet:296	Ollier disease	semapv:ManualMappingCuration
MONDO:0008146	osteogenesis imperfecta type 1	oboInOwl:hasDbXref	Orphanet:216796	Osteogenesis imperfecta type 1	semapv:ManualMappingCuration
MONDO:0008147	osteogenesis imperfecta type 2	oboInOwl:hasDbXref	Orphanet:216804	Osteogenesis imperfecta type 2	semapv:ManualMappingCuration
MONDO:0008148	osteogenesis imperfecta type 4	oboInOwl:hasDbXref	Orphanet:216820	Osteogenesis imperfecta type 4	semapv:ManualMappingCuration
MONDO:0008150	osteoglophonic dwarfism	oboInOwl:hasDbXref	Orphanet:2645	Osteoglosphonic dysplasia	semapv:ManualMappingCuration
MONDO:0008151	gnathodiaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:53697	Gnathodiaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0008152	multicentric carpo-tarsal osteolysis with or without nephropathy	oboInOwl:hasDbXref	Orphanet:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	semapv:ManualMappingCuration
MONDO:0008153	progressive osseous heteroplasia	oboInOwl:hasDbXref	Orphanet:2762	Progressive osseous heteroplasia	semapv:ManualMappingCuration
MONDO:0008155	osteomesopyknosis	oboInOwl:hasDbXref	Orphanet:2777	Osteomesopyknosis	semapv:ManualMappingCuration
MONDO:0008156	autosomal dominant osteopetrosis 2	oboInOwl:hasDbXref	Orphanet:53	Albers-Schönberg osteopetrosis	semapv:ManualMappingCuration
MONDO:0008157	Buschke-Ollendorff syndrome	oboInOwl:hasDbXref	Orphanet:1306	NON RARE IN EUROPE: Buschke-Ollendorff syndrome	semapv:ManualMappingCuration
MONDO:0008158	dacryocystitis-osteopoikilosis syndrome	oboInOwl:hasDbXref	Orphanet:1562	OBSOLETE: Dacryocystitis-osteopoikilosis syndrome	semapv:ManualMappingCuration
MONDO:0008161	otodental syndrome	oboInOwl:hasDbXref	Orphanet:2791	Otodental syndrome	semapv:ManualMappingCuration
MONDO:0008163	otofaciocervical syndrome	oboInOwl:hasDbXref	Orphanet:2792	Otofaciocervical syndrome	semapv:ManualMappingCuration
MONDO:0008165	southeast Asian ovalocytosis	oboInOwl:hasDbXref	Orphanet:98868	Southeast Asian ovalocytosis	semapv:ManualMappingCuration
MONDO:0008168	ovarian fibroma	oboInOwl:hasDbXref	Orphanet:314473	Ovarian fibroma	semapv:ManualMappingCuration
MONDO:0008170	ovarian cancer	oboInOwl:hasDbXref	Orphanet:213500	Ovarian cancer	semapv:ManualMappingCuration
MONDO:0008175	pacman dysplasia	oboInOwl:hasDbXref	Orphanet:1952	Epiphyseal stippling-osteoclastic hyperplasia syndrome	semapv:ManualMappingCuration
MONDO:0008177	extramammary Paget disease	oboInOwl:hasDbXref	Orphanet:2800	Extramammary Paget disease	semapv:ManualMappingCuration
MONDO:0008179	paroxysmal extreme pain disorder	oboInOwl:hasDbXref	Orphanet:46348	Paroxysmal extreme pain disorder	semapv:ManualMappingCuration
MONDO:0008180	congenital velopharyngeal incompetence	oboInOwl:hasDbXref	Orphanet:2291	Congenital velopharyngeal incompetence	semapv:ManualMappingCuration
MONDO:0008182	nasopalpebral lipoma-coloboma syndrome	oboInOwl:hasDbXref	Orphanet:2399	Nasopalpebral lipoma-coloboma syndrome	semapv:ManualMappingCuration
MONDO:0008183	annular pancreas	oboInOwl:hasDbXref	Orphanet:675	Annular pancreas	semapv:ManualMappingCuration
MONDO:0008185	hereditary chronic pancreatitis	oboInOwl:hasDbXref	Orphanet:676	Hereditary chronic pancreatitis	semapv:ManualMappingCuration
MONDO:0008195	paramyotonia congenita of Von Eulenburg	oboInOwl:hasDbXref	Orphanet:684	Paramyotonia congenita of Von Eulenburg	semapv:ManualMappingCuration
MONDO:0008196	parastremmatic dwarfism	oboInOwl:hasDbXref	Orphanet:2646	Parastremmatic dysplasia	semapv:ManualMappingCuration
MONDO:0008198	parietal foramina with cleidocranial dysplasia	oboInOwl:hasDbXref	Orphanet:251290	Parietal foramina with clavicular hypoplasia	semapv:ManualMappingCuration
MONDO:0008199	late-onset Parkinson disease	oboInOwl:hasDbXref	Orphanet:411602	Hereditary late-onset Parkinson disease	semapv:ManualMappingCuration
MONDO:0008201	Perry syndrome	oboInOwl:hasDbXref	Orphanet:178509	Perry syndrome	semapv:ManualMappingCuration
MONDO:0008205	patella aplasia/hypoplasia	oboInOwl:hasDbXref	Orphanet:86789	Isolated patella aplasia/hypoplasia	semapv:ManualMappingCuration
MONDO:0008206	benign paroxysmal tonic upgaze of childhood with ataxia	oboInOwl:hasDbXref	Orphanet:1179	Benign paroxysmal tonic upgaze of childhood with ataxia	semapv:ManualMappingCuration
MONDO:0008207	chondromalacia patellae	oboInOwl:hasDbXref	Orphanet:1428	OBSOLETE: Familial chondromalacia patellae	semapv:ManualMappingCuration
MONDO:0008209	Char syndrome	oboInOwl:hasDbXref	Orphanet:46627	Char syndrome	semapv:ManualMappingCuration
MONDO:0008211	pseudoleprechaunism syndrome, Patterson type	oboInOwl:hasDbXref	Orphanet:2976	Pseudoleprechaunism syndrome, Patterson type	semapv:ManualMappingCuration
MONDO:0008215	adult-onset autosomal dominant demyelinating leukodystrophy	oboInOwl:hasDbXref	Orphanet:99027	Adult-onset autosomal dominant leukodystrophy	semapv:ManualMappingCuration
MONDO:0008217	pelvis-shoulder dysplasia	oboInOwl:hasDbXref	Orphanet:2839	Pelvis-shoulder dysplasia	semapv:ManualMappingCuration
MONDO:0008218	Hailey-Hailey disease	oboInOwl:hasDbXref	Orphanet:2841	Hailey-Hailey disease	semapv:ManualMappingCuration
MONDO:0008219	pemphigus vulgaris	oboInOwl:hasDbXref	Orphanet:704	Pemphigus vulgaris	semapv:ManualMappingCuration
MONDO:0008221	prolidase deficiency	oboInOwl:hasDbXref	Orphanet:742	Prolidase deficiency	semapv:ManualMappingCuration
MONDO:0008222	Andersen-Tawil syndrome	oboInOwl:hasDbXref	Orphanet:37553	Andersen-Tawil syndrome	semapv:ManualMappingCuration
MONDO:0008223	hypokalemic periodic paralysis	oboInOwl:hasDbXref	Orphanet:681	Hypokalemic periodic paralysis	semapv:ManualMappingCuration
MONDO:0008224	hyperkalemic periodic paralysis	oboInOwl:hasDbXref	Orphanet:682	Hyperkalemic periodic paralysis	semapv:ManualMappingCuration
MONDO:0008225	normokalemic periodic paralysis	oboInOwl:hasDbXref	Orphanet:680	Normokalemic periodic paralysis	semapv:ManualMappingCuration
MONDO:0008227	peripheral dysostosis	oboInOwl:hasDbXref	Orphanet:1795	OBSOLETE: Peripheral dysostosis	semapv:ManualMappingCuration
MONDO:0008228	pernicious anemia	oboInOwl:hasDbXref	Orphanet:120	NON RARE IN EUROPE: Pernicious anemia	semapv:ManualMappingCuration
MONDO:0008231	Peyronie disease	oboInOwl:hasDbXref	Orphanet:2870	NON RARE IN EUROPE: Peyronie syndrome	semapv:ManualMappingCuration
MONDO:0008234	multiple endocrine neoplasia type 2A	oboInOwl:hasDbXref	Orphanet:247698	Multiple endocrine neoplasia type 2A	semapv:ManualMappingCuration
MONDO:0008237	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	oboInOwl:hasDbXref	Orphanet:2878	OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	semapv:ManualMappingCuration
MONDO:0008244	piebaldism	oboInOwl:hasDbXref	Orphanet:2884	Piebaldism	semapv:ManualMappingCuration
MONDO:0008245	piebald trait-neurologic defects syndrome	oboInOwl:hasDbXref	Orphanet:2885	Piebald trait-neurologic defects syndrome	semapv:ManualMappingCuration
MONDO:0008246	pigmented paravenous retinochoroidal atrophy	oboInOwl:hasDbXref	Orphanet:251295	Pigmented paravenous retinochoroidal atrophy	semapv:ManualMappingCuration
MONDO:0008247	Robin sequence-oligodactyly syndrome	oboInOwl:hasDbXref	Orphanet:3104	Robin sequence-oligodactyly syndrome	semapv:ManualMappingCuration
MONDO:0008250	isolated growth hormone deficiency type II	oboInOwl:hasDbXref	Orphanet:231679	Isolated growth hormone deficiency type II	semapv:ManualMappingCuration
MONDO:0008251	familial pityriasis rubra pilaris	oboInOwl:hasDbXref	Orphanet:2897	Pityriasis rubra pilaris	semapv:ManualMappingCuration
MONDO:0008259	familial spontaneous pneumothorax	oboInOwl:hasDbXref	Orphanet:2903	Familial spontaneous pneumothorax	semapv:ManualMappingCuration
MONDO:0008260	Kindler syndrome	oboInOwl:hasDbXref	Orphanet:2908	Kindler epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0008261	hereditary sclerosing poikiloderma, Weary type	oboInOwl:hasDbXref	Orphanet:221039	Hereditary sclerosing poikiloderma, Weary type	semapv:ManualMappingCuration
MONDO:0008262	Poland syndrome	oboInOwl:hasDbXref	Orphanet:2911	Poland syndrome	semapv:ManualMappingCuration
MONDO:0008264	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	oboInOwl:hasDbXref	Orphanet:34149	Autosomal dominant tubulointerstitial kidney disease	semapv:ManualMappingCuration
MONDO:0008267	orofaciodigital syndrome V	oboInOwl:hasDbXref	Orphanet:2919	Orofaciodigital syndrome type 5	semapv:ManualMappingCuration
MONDO:0008268	polydactyly-myopia syndrome	oboInOwl:hasDbXref	Orphanet:2917	Polydactyly-myopia syndrome	semapv:ManualMappingCuration
MONDO:0008269	polydactyly of a biphalangeal thumb	oboInOwl:hasDbXref	Orphanet:93339	Polydactyly of a biphalangeal thumb and/or hallux	semapv:ManualMappingCuration
MONDO:0008270	polydactyly of a triphalangeal thumb	oboInOwl:hasDbXref	Orphanet:93336	Polydactyly of a triphalangeal thumb	semapv:ManualMappingCuration
MONDO:0008271	polydactyly of an index finger	oboInOwl:hasDbXref	Orphanet:93337	Polydactyly of an index finger	semapv:ManualMappingCuration
MONDO:0008272	polysyndactyly 4	oboInOwl:hasDbXref	Orphanet:93338	Polysyndactyly	semapv:ManualMappingCuration
MONDO:0008273	actinic prurigo	oboInOwl:hasDbXref	Orphanet:330061	Actinic prurigo	semapv:ManualMappingCuration
MONDO:0008274	polyostotic fibrous dysplasia	oboInOwl:hasDbXref	Orphanet:93276	Polyostotic fibrous dysplasia	semapv:ManualMappingCuration
MONDO:0008275	familial expansile osteolysis	oboInOwl:hasDbXref	Orphanet:85195	Familial expansile osteolysis	semapv:ManualMappingCuration
MONDO:0008276	generalized juvenile polyposis/juvenile polyposis coli	oboInOwl:hasDbXref	Orphanet:329971	Generalized juvenile polyposis/juvenile polyposis coli	semapv:ManualMappingCuration
MONDO:0008280	Peutz-Jeghers syndrome	oboInOwl:hasDbXref	Orphanet:2869	Peutz-Jeghers syndrome	semapv:ManualMappingCuration
MONDO:0008283	Cronkhite-Canada syndrome	oboInOwl:hasDbXref	Orphanet:2930	Cronkhite-Canada syndrome	semapv:ManualMappingCuration
MONDO:0008286	crossed polysyndactyly	oboInOwl:hasDbXref	Orphanet:2935	Crossed polysyndactyly	semapv:ManualMappingCuration
MONDO:0008287	Greig cephalopolysyndactyly syndrome	oboInOwl:hasDbXref	Orphanet:380	Greig cephalopolysyndactyly syndrome	semapv:ManualMappingCuration
MONDO:0008289	brain small vessel disease 1 with or without ocular anomalies	oboInOwl:hasDbXref	Orphanet:36383	COL4A1/2-related familial vascular leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0008291	porokeratosis plantaris palmaris et disseminata	oboInOwl:hasDbXref	Orphanet:737	Porokeratosis plantaris palmaris et disseminata	semapv:ManualMappingCuration
MONDO:0008292	punctate palmoplantar keratoderma type 2	oboInOwl:hasDbXref	Orphanet:79502	Punctate palmoplantar keratoderma type 2	semapv:ManualMappingCuration
MONDO:0008294	acute intermittent porphyria	oboInOwl:hasDbXref	Orphanet:79276	Acute intermittent porphyria	semapv:ManualMappingCuration
MONDO:0008295	sporadic porphyria cutanea tarda	oboInOwl:hasDbXref	Orphanet:443057	Sporadic porphyria cutanea tarda	semapv:ManualMappingCuration
MONDO:0008296	familial porphyria cutanea tarda	oboInOwl:hasDbXref	Orphanet:443062	Familial porphyria cutanea tarda	semapv:ManualMappingCuration
MONDO:0008297	variegate porphyria	oboInOwl:hasDbXref	Orphanet:79473	Variegate porphyria	semapv:ManualMappingCuration
MONDO:0008298	postaxial tetramelic oligodactyly	oboInOwl:hasDbXref	Orphanet:2730	Postaxial tetramelic oligodactyly	semapv:ManualMappingCuration
MONDO:0008300	Prader-Willi syndrome	oboInOwl:hasDbXref	Orphanet:739	Prader-Willi syndrome	semapv:ManualMappingCuration
MONDO:0008301	Guttmacher syndrome	oboInOwl:hasDbXref	Orphanet:2957	Guttmacher syndrome	semapv:ManualMappingCuration
MONDO:0008303	familial male-limited precocious puberty	oboInOwl:hasDbXref	Orphanet:3000	Familial peripheral male-limited precocious puberty	semapv:ManualMappingCuration
MONDO:0008305	Currarino triad	oboInOwl:hasDbXref	Orphanet:1552	Currarino syndrome	semapv:ManualMappingCuration
MONDO:0008306	ABri amyloidosis	oboInOwl:hasDbXref	Orphanet:97345	ABri amyloidosis	semapv:ManualMappingCuration
MONDO:0008310	Hutchinson-Gilford progeria syndrome	oboInOwl:hasDbXref	Orphanet:740	Hutchinson-Gilford progeria syndrome	semapv:ManualMappingCuration
MONDO:0008311	progeria-short stature-pigmented nevi syndrome	oboInOwl:hasDbXref	Orphanet:2959	Progeria-short stature-pigmented nevi syndrome	semapv:ManualMappingCuration
MONDO:0008312	autosomal dominant prognathism	oboInOwl:hasDbXref	Orphanet:2964	Autosomal dominant prognathism	semapv:ManualMappingCuration
MONDO:0008318	Proteus syndrome	oboInOwl:hasDbXref	Orphanet:744	Proteus syndrome	semapv:ManualMappingCuration
MONDO:0008322	pseudoachondroplasia	oboInOwl:hasDbXref	Orphanet:750	Pseudoachondroplasia	semapv:ManualMappingCuration
MONDO:0008323	Liddle syndrome	oboInOwl:hasDbXref	Orphanet:526	Liddle syndrome	semapv:ManualMappingCuration
MONDO:0008327	exfoliation syndrome	oboInOwl:hasDbXref	Orphanet:529819	NON RARE IN EUROPE: Exfoliation syndrome	semapv:ManualMappingCuration
MONDO:0008329	autosomal dominant pseudohypoaldosteronism type 1	oboInOwl:hasDbXref	Orphanet:171871	Renal pseudohypoaldosteronism type 1	semapv:ManualMappingCuration
MONDO:0008331	obsolete pseudopapilledema	oboInOwl:hasDbXref	Orphanet:519339	Pseudopapilledema	semapv:ManualMappingCuration
MONDO:0008332	platelet-type von Willebrand disease	oboInOwl:hasDbXref	Orphanet:52530	Pseudo-von Willebrand disease	semapv:ManualMappingCuration
MONDO:0008335	short stature-craniofacial anomalies-genital hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:2994	Short stature-craniofacial anomalies-genital hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0008337	familial pterygium of the conjunctiva	oboInOwl:hasDbXref	Orphanet:2989	Familial pterygium of the conjunctiva	semapv:ManualMappingCuration
MONDO:0008338	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	oboInOwl:hasDbXref	Orphanet:65743	Autosomal dominant multiple pterygium syndrome	semapv:ManualMappingCuration
MONDO:0008339	antecubital pterygium syndrome	oboInOwl:hasDbXref	Orphanet:2987	Antecubital pterygium syndrome	semapv:ManualMappingCuration
MONDO:0008340	ptosis, hereditary congenital, 1	oboInOwl:hasDbXref	Orphanet:91411	Congenital ptosis	semapv:ManualMappingCuration
MONDO:0008341	ptosis-strabismus-ectopic pupils syndrome	oboInOwl:hasDbXref	Orphanet:2999	Ptosis-strabismus-ectopic pupils syndrome	semapv:ManualMappingCuration
MONDO:0008343	pulmonary atresia with ventricular septal defect	oboInOwl:hasDbXref	Orphanet:1207	Pulmonary atresia with ventricular septal defect	semapv:ManualMappingCuration
MONDO:0008346	pulmonary hemosiderosis	oboInOwl:hasDbXref	Orphanet:99931	Idiopathic pulmonary hemosiderosis	semapv:ManualMappingCuration
MONDO:0008347	obsolete idiopathic and/or familial pulmonary arterial hypertension	oboInOwl:hasDbXref	Orphanet:422	Idiopathic/heritable pulmonary arterial hypertension	semapv:ManualMappingCuration
MONDO:0008348	pulmonary nodular lymphoid hyperplasia	oboInOwl:hasDbXref	Orphanet:60026	Pulmonary nodular lymphoid hyperplasia	semapv:ManualMappingCuration
MONDO:0008353	pruritic urticarial papules and plaques of pregnancy	oboInOwl:hasDbXref	Orphanet:64745	Pruritic urticarial papules and plaques of pregnancy	semapv:ManualMappingCuration
MONDO:0008357	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	oboInOwl:hasDbXref	Orphanet:2252	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	semapv:ManualMappingCuration
MONDO:0008358	radial ray hypoplasia-choanal atresia syndrome	oboInOwl:hasDbXref	Orphanet:3026	Radial ray hypoplasia-choanal atresia syndrome	semapv:ManualMappingCuration
MONDO:0008359	radio-renal syndrome	oboInOwl:hasDbXref	Orphanet:3015	Radio-renal syndrome	semapv:ManualMappingCuration
MONDO:0008365	recombinant 8 syndrome	oboInOwl:hasDbXref	Orphanet:96167	Recombinant 8 syndrome	semapv:ManualMappingCuration
MONDO:0008368	autosomal dominant distal renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:93608	Autosomal dominant distal renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0008369	proximal renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:47159	Proximal renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0008371	Dowling-Degos disease	oboInOwl:hasDbXref	Orphanet:79145	Dowling-Degos disease	semapv:ManualMappingCuration
MONDO:0008373	retinal arterial tortuosity	oboInOwl:hasDbXref	Orphanet:75326	Familial isolated retinal arteriolar tortuosity	semapv:ManualMappingCuration
MONDO:0008380	retinoblastoma	oboInOwl:hasDbXref	Orphanet:790	Retinoblastoma	semapv:ManualMappingCuration
MONDO:0008383	rheumatoid arthritis	oboInOwl:hasDbXref	Orphanet:284130	NON RARE IN EUROPE: Rheumatoid arthritis	semapv:ManualMappingCuration
MONDO:0008387	ring dermoid of cornea	oboInOwl:hasDbXref	Orphanet:91481	Ring dermoid of cornea	semapv:ManualMappingCuration
MONDO:0008388	ringed hair disease	oboInOwl:hasDbXref	Orphanet:169	Ringed hair disease	semapv:ManualMappingCuration
MONDO:0008389	autosomal dominant Robinow syndrome	oboInOwl:hasDbXref	Orphanet:3107	Autosomal dominant Robinow syndrome	semapv:ManualMappingCuration
MONDO:0008390	Rombo syndrome	oboInOwl:hasDbXref	Orphanet:3110	Rombo syndrome	semapv:ManualMappingCuration
MONDO:0008391	Robinow-Sorauf syndrome	oboInOwl:hasDbXref	Orphanet:3106	Robinow-Sorauf syndrome	semapv:ManualMappingCuration
MONDO:0008392	Roussy-Levy syndrome	oboInOwl:hasDbXref	Orphanet:3115	Roussy-Lévy syndrome	semapv:ManualMappingCuration
MONDO:0008393	Rubinstein-Taybi syndrome due to CREBBP mutations	oboInOwl:hasDbXref	Orphanet:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	semapv:ManualMappingCuration
MONDO:0008394	Silver-Russell syndrome	oboInOwl:hasDbXref	Orphanet:813	Silver-Russell syndrome	semapv:ManualMappingCuration
MONDO:0008395	Ruvalcaba syndrome	oboInOwl:hasDbXref	Orphanet:3121	Ruvalcaba syndrome	semapv:ManualMappingCuration
MONDO:0008396	oculodental syndrome, Rutherfurd type	oboInOwl:hasDbXref	Orphanet:2709	Oculodental syndrome, Rutherfurd type	semapv:ManualMappingCuration
MONDO:0008397	aplasia of lacrimal and salivary glands	oboInOwl:hasDbXref	Orphanet:86815	Aplasia of lacrimal and salivary glands	semapv:ManualMappingCuration
MONDO:0008401	pleomorphic adenoma	oboInOwl:hasDbXref	Orphanet:454821	OBSOLETE: Pleomorphic salivary gland adenoma	semapv:ManualMappingCuration
MONDO:0008402	cleft palate-large ears-small head syndrome	oboInOwl:hasDbXref	Orphanet:2013	Cleft palate-large ears-small head syndrome	semapv:ManualMappingCuration
MONDO:0008403	scalp defects-postaxial polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:1003	Scalp defects-postaxial polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0008404	scalp-ear-nipple syndrome	oboInOwl:hasDbXref	Orphanet:2036	Scalp-ear-nipple syndrome	semapv:ManualMappingCuration
MONDO:0008406	obsolete autosomal recessive Emery-Dreifuss muscular dystrophy	oboInOwl:hasDbXref	Orphanet:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	semapv:ManualMappingCuration
MONDO:0008407	neurogenic scapuloperoneal syndrome, Kaeser type	oboInOwl:hasDbXref	Orphanet:85146	Neurogenic scapuloperoneal syndrome, Kaeser type	semapv:ManualMappingCuration
MONDO:0008408	scapuloperoneal spinal muscular atrophy, autosomal dominant	oboInOwl:hasDbXref	Orphanet:431255	Scapuloperoneal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0008409	congenital myopathy 7A, myosin storage, autosomal dominant	oboInOwl:hasDbXref	Orphanet:437572	OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy	semapv:ManualMappingCuration
MONDO:0008409	congenital myopathy 7A, myosin storage, autosomal dominant	oboInOwl:hasDbXref	Orphanet:636965	Autosomal dominant myosin storage myopathy	semapv:ManualMappingCuration
MONDO:0008410	Scheuermann disease	oboInOwl:hasDbXref	Orphanet:3135	NON RARE IN EUROPE: Scheuermann's disease	semapv:ManualMappingCuration
MONDO:0008411	ulnar-mammary syndrome	oboInOwl:hasDbXref	Orphanet:3138	Ulnar-mammary syndrome	semapv:ManualMappingCuration
MONDO:0008416	palmoplantar keratoderma-sclerodactyly syndrome	oboInOwl:hasDbXref	Orphanet:384	Huriez syndrome	semapv:ManualMappingCuration
MONDO:0008421	flat face-microstomia-ear anomaly syndrome	oboInOwl:hasDbXref	Orphanet:1968	Flat face-microstomia-ear anomaly syndrome	semapv:ManualMappingCuration
MONDO:0008425	omphalocele syndrome, Shprintzen-Goldberg type	oboInOwl:hasDbXref	Orphanet:3164	Omphalocele syndrome, Shprintzen-Goldberg type	semapv:ManualMappingCuration
MONDO:0008426	Shprintzen-Goldberg syndrome	oboInOwl:hasDbXref	Orphanet:2462	Shprintzen-Goldberg syndrome	semapv:ManualMappingCuration
MONDO:0008428	septooptic dysplasia	oboInOwl:hasDbXref	Orphanet:3157	Septo-optic dysplasia spectrum	semapv:ManualMappingCuration
MONDO:0008429	Singleton-Merten dysplasia	oboInOwl:hasDbXref	Orphanet:85191	Singleton-Merten dysplasia	semapv:ManualMappingCuration
MONDO:0008433	small cell lung carcinoma	oboInOwl:hasDbXref	Orphanet:70573	Small cell lung cancer	semapv:ManualMappingCuration
MONDO:0008434	Smith-Magenis syndrome	oboInOwl:hasDbXref	Orphanet:819	Smith-Magenis syndrome	semapv:ManualMappingCuration
MONDO:0008436	Sneddon syndrome	oboInOwl:hasDbXref	Orphanet:820	Sneddon syndrome	semapv:ManualMappingCuration
MONDO:0008437	hereditary spastic paraplegia 3A	oboInOwl:hasDbXref	Orphanet:100984	Autosomal dominant spastic paraplegia type 3	semapv:ManualMappingCuration
MONDO:0008438	hereditary spastic paraplegia 4	oboInOwl:hasDbXref	Orphanet:100985	Autosomal dominant spastic paraplegia type 4	semapv:ManualMappingCuration
MONDO:0008439	spastic paraplegia-epilepsy-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2816	Spastic paraplegia-epilepsy-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008440	spastic paraplegia-nephritis-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2820	Spastic paraplegia-nephritis-deafness syndrome	semapv:ManualMappingCuration
MONDO:0008442	spastic paraplegia-neuropathy-poikiloderma syndrome	oboInOwl:hasDbXref	Orphanet:2821	Spastic paraplegia-neuropathy-poikiloderma syndrome	semapv:ManualMappingCuration
MONDO:0008443	spastic paraplegia-precocious puberty syndrome	oboInOwl:hasDbXref	Orphanet:2826	Spastic paraplegia-precocious puberty syndrome	semapv:ManualMappingCuration
MONDO:0008445	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	oboInOwl:hasDbXref	Orphanet:3038	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	semapv:ManualMappingCuration
MONDO:0008451	neuronopathy, distal hereditary motor, autosomal dominant 1	oboInOwl:hasDbXref	Orphanet:139518	Distal hereditary motor neuropathy type 1	semapv:ManualMappingCuration
MONDO:0008453	adult-onset proximal spinal muscular atrophy, autosomal dominant	oboInOwl:hasDbXref	Orphanet:209335	Autosomal dominant adult-onset proximal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0008457	spinocerebellar ataxia type 6	oboInOwl:hasDbXref	Orphanet:98758	Spinocerebellar ataxia type 6	semapv:ManualMappingCuration
MONDO:0008458	spinocerebellar ataxia type 2	oboInOwl:hasDbXref	Orphanet:98756	Spinocerebellar ataxia type 2	semapv:ManualMappingCuration
MONDO:0008460	splenogonadal fusion-limb defects-micrognathia syndrome	oboInOwl:hasDbXref	Orphanet:2063	Splenogonadal fusion-limb defects-micrognathia syndrome	semapv:ManualMappingCuration
MONDO:0008465	Patterson-Stevenson-Fontaine syndrome	oboInOwl:hasDbXref	Orphanet:2439	Patterson-Stevenson-Fontaine syndrome	semapv:ManualMappingCuration
MONDO:0008466	Karsch-Neugebauer syndrome	oboInOwl:hasDbXref	Orphanet:2329	Karsch-Neugebauer syndrome	semapv:ManualMappingCuration
MONDO:0008467	Czeizel-Losonci syndrome	oboInOwl:hasDbXref	Orphanet:2437	Czeizel-Losonci syndrome	semapv:ManualMappingCuration
MONDO:0008469	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	oboInOwl:hasDbXref	Orphanet:168443	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	semapv:ManualMappingCuration
MONDO:0008470	spondyloepiphyseal dysplasia with punctate corneal dystrophy	oboInOwl:hasDbXref	Orphanet:163673	Spondyloepiphyseal dysplasia, Byers type	semapv:ManualMappingCuration
MONDO:0008471	spondyloepiphyseal dysplasia congenita	oboInOwl:hasDbXref	Orphanet:94068	Spondyloepiphyseal dysplasia congenita	semapv:ManualMappingCuration
MONDO:0008472	spondyloepiphyseal dysplasia, MacDermot type	oboInOwl:hasDbXref	Orphanet:163668	Spondyloepiphyseal dysplasia, MacDermot type	semapv:ManualMappingCuration
MONDO:0008473	spondyloepimetaphyseal dysplasia, Maroteaux type	oboInOwl:hasDbXref	Orphanet:263482	Spondyloepimetaphyseal dysplasia, Maroteaux type	semapv:ManualMappingCuration
MONDO:0008476	spondyloepimetaphyseal dysplasia, Strudwick type	oboInOwl:hasDbXref	Orphanet:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	semapv:ManualMappingCuration
MONDO:0008477	spondylometaphyseal dysplasia, Kozlowski type	oboInOwl:hasDbXref	Orphanet:93314	Spondylometaphyseal dysplasia, Kozlowski type	semapv:ManualMappingCuration
MONDO:0008478	spondylometaphyseal dysplasia, Schmidt type	oboInOwl:hasDbXref	Orphanet:93316	Spondylometaphyseal dysplasia, Schmidt type	semapv:ManualMappingCuration
MONDO:0008479	spondylometaphyseal dysplasia, 'corner fracture' type	oboInOwl:hasDbXref	Orphanet:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	semapv:ManualMappingCuration
MONDO:0008482	Sprengel deformity	oboInOwl:hasDbXref	Orphanet:3181	Sprengel deformity	semapv:ManualMappingCuration
MONDO:0008484	stapes ankylosis with broad thumbs and toes	oboInOwl:hasDbXref	Orphanet:140917	Stapes ankylosis with broad thumbs and toes	semapv:ManualMappingCuration
MONDO:0008485	sebocystomatosis	oboInOwl:hasDbXref	Orphanet:841	Sebocystomatosis	semapv:ManualMappingCuration
MONDO:0008486	steatocystoma multiplex-natal teeth syndrome	oboInOwl:hasDbXref	Orphanet:3184	Steatocystoma multiplex-natal teeth syndrome	semapv:ManualMappingCuration
MONDO:0008487	polycystic ovary syndrome	oboInOwl:hasDbXref	Orphanet:3185	NON RARE IN EUROPE: Polycystic ovary syndrome	semapv:ManualMappingCuration
MONDO:0008488	holoprosencephaly-radial heart renal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:3186	Holoprosencephaly-radial heart renal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0008490	otospondylomegaepiphyseal dysplasia, autosomal dominant	oboInOwl:hasDbXref	Orphanet:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0008490	otospondylomegaepiphyseal dysplasia, autosomal dominant	oboInOwl:hasDbXref	Orphanet:3450	Weissenbacher-Zweymuller syndrome	semapv:ManualMappingCuration
MONDO:0008491	stiff-person syndrome	oboInOwl:hasDbXref	Orphanet:3198	Stiff person spectrum disorder	semapv:ManualMappingCuration
MONDO:0008492	stiff skin syndrome	oboInOwl:hasDbXref	Orphanet:2833	Stiff skin syndrome	semapv:ManualMappingCuration
MONDO:0008493	overhydrated hereditary stomatocytosis	oboInOwl:hasDbXref	Orphanet:3203	Overhydrated hereditary stomatocytosis	semapv:ManualMappingCuration
MONDO:0008494	cryohydrocytosis	oboInOwl:hasDbXref	Orphanet:398088	Hereditary cryohydrocytosis with normal stomatin	semapv:ManualMappingCuration
MONDO:0008495	platelet storage pool deficiency	oboInOwl:hasDbXref	Orphanet:734	Alpha delta granule deficiency	semapv:ManualMappingCuration
MONDO:0008497	Stormorken syndrome	oboInOwl:hasDbXref	Orphanet:3204	Stormorken-Sjaastad-Langslet syndrome	semapv:ManualMappingCuration
MONDO:0008499	short stature-wormian bones-dextrocardia syndrome	oboInOwl:hasDbXref	Orphanet:2863	Short stature-wormian bones-dextrocardia syndrome	semapv:ManualMappingCuration
MONDO:0008501	Sturge-Weber syndrome	oboInOwl:hasDbXref	Orphanet:3205	Sturge-Weber syndrome	semapv:ManualMappingCuration
MONDO:0008503	Worster-Drought syndrome	oboInOwl:hasDbXref	Orphanet:3465	Worster-Drought syndrome	semapv:ManualMappingCuration
MONDO:0008504	supravalvular aortic stenosis	oboInOwl:hasDbXref	Orphanet:3193	Supravalvular aortic stenosis	semapv:ManualMappingCuration
MONDO:0008509	distal symphalangism	oboInOwl:hasDbXref	Orphanet:3248	Isolated distal symphalangism	semapv:ManualMappingCuration
MONDO:0008510	symphalangism with multiple anomalies of hands and feet	oboInOwl:hasDbXref	Orphanet:3246	Symphalangism with multiple anomalies of hands and feet	semapv:ManualMappingCuration
MONDO:0008511	proximal symphalangism	oboInOwl:hasDbXref	Orphanet:3250	Proximal symphalangism	semapv:ManualMappingCuration
MONDO:0008512	syndactyly type 1	oboInOwl:hasDbXref	Orphanet:93402	Syndactyly type 1	semapv:ManualMappingCuration
MONDO:0008513	synpolydactyly type 1	oboInOwl:hasDbXref	Orphanet:295195	Synpolydactyly type 1	semapv:ManualMappingCuration
MONDO:0008514	syndactyly type 3	oboInOwl:hasDbXref	Orphanet:93404	Syndactyly type 3	semapv:ManualMappingCuration
MONDO:0008515	syndactyly type 4	oboInOwl:hasDbXref	Orphanet:93405	Syndactyly type 4	semapv:ManualMappingCuration
MONDO:0008516	syndactyly type 5	oboInOwl:hasDbXref	Orphanet:93406	Syndactyly type 5	semapv:ManualMappingCuration
MONDO:0008517	syndactyly-polydactyly-ear lobe syndrome	oboInOwl:hasDbXref	Orphanet:3259	Syndactyly-polydactyly-ear lobe syndrome	semapv:ManualMappingCuration
MONDO:0008520	brachydactyly-elbow wrist dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:1275	Brachydactyly-elbow wrist dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0008521	tarsal-carpal coalition syndrome	oboInOwl:hasDbXref	Orphanet:1412	Tarsal-carpal coalition syndrome	semapv:ManualMappingCuration
MONDO:0008523	Blau syndrome	oboInOwl:hasDbXref	Orphanet:90340	Blau syndrome	semapv:ManualMappingCuration
MONDO:0008523	Blau syndrome	oboInOwl:hasDbXref	Orphanet:90341	Early-onset sarcoidosis	semapv:ManualMappingCuration
MONDO:0008534	generalized essential telangiectasia	oboInOwl:hasDbXref	Orphanet:280774	Generalized essential telangiectasia	semapv:ManualMappingCuration
MONDO:0008537	telecanthus	oboInOwl:hasDbXref	Orphanet:98575	Syndromic telecanthus	semapv:ManualMappingCuration
MONDO:0008538	temporal arteritis	oboInOwl:hasDbXref	Orphanet:397	Giant cell arteritis	semapv:ManualMappingCuration
MONDO:0008540	extensor tendons of finger anomalies	oboInOwl:hasDbXref	Orphanet:3294	Extensor tendons of finger anomalies	semapv:ManualMappingCuration
MONDO:0008542	tetralogy of fallot	oboInOwl:hasDbXref	Orphanet:3303	Tetralogy of Fallot	semapv:ManualMappingCuration
MONDO:0008544	tetramelic monodactyly	oboInOwl:hasDbXref	Orphanet:2564	Tetramelic monodactyly	semapv:ManualMappingCuration
MONDO:0008546	thanatophoric dysplasia type 1	oboInOwl:hasDbXref	Orphanet:1860	Thanatophoric dysplasia type 1	semapv:ManualMappingCuration
MONDO:0008547	thanatophoric dysplasia type 2	oboInOwl:hasDbXref	Orphanet:93274	Thanatophoric dysplasia type 2	semapv:ManualMappingCuration
MONDO:0008551	thoracolaryngopelvic dysplasia	oboInOwl:hasDbXref	Orphanet:3317	Thoracolaryngopelvic dysplasia	semapv:ManualMappingCuration
MONDO:0008557	Paris-Trousseau thrombocytopenia	oboInOwl:hasDbXref	Orphanet:851	Paris-Trousseau thrombocytopenia	semapv:ManualMappingCuration
MONDO:0008558	autoimmune thrombocytopenic purpura	oboInOwl:hasDbXref	Orphanet:3002	Immune thrombocytopenia	semapv:ManualMappingCuration
MONDO:0008562	thumb deformity-alopecia-pigmentation anomaly syndrome	oboInOwl:hasDbXref	Orphanet:2251	Thumb deformity-alopecia-pigmentation anomaly syndrome	semapv:ManualMappingCuration
MONDO:0008562	thumb deformity-alopecia-pigmentation anomaly syndrome	oboInOwl:hasDbXref	Orphanet:79132	OBSOLETE: Sparse hair-short stature-skin anomalies syndrome	semapv:ManualMappingCuration
MONDO:0008563	thumb stiffness-brachydactyly-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1078	Thumb stiffness-brachydactyly-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008565	familial thyroglossal duct cyst	oboInOwl:hasDbXref	Orphanet:93953	Familial thyroglossal duct cyst	semapv:ManualMappingCuration
MONDO:0008572	tibia, hypoplasia or aplasia of, with polydactyly	oboInOwl:hasDbXref	Orphanet:3332	Hypoplastic tibiae-postaxial polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0008572	tibia, hypoplasia or aplasia of, with polydactyly	oboInOwl:hasDbXref	Orphanet:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	semapv:ManualMappingCuration
MONDO:0008582	tooth and nail syndrome	oboInOwl:hasDbXref	Orphanet:2228	Hypodontia-dysplasia of nails syndrome	semapv:ManualMappingCuration
MONDO:0008585	HELLP syndrome	oboInOwl:hasDbXref	Orphanet:244242	HELLP syndrome	semapv:ManualMappingCuration
MONDO:0008586	esophageal atresia/tracheoesophageal fistula	oboInOwl:hasDbXref	Orphanet:1199	Esophageal atresia	semapv:ManualMappingCuration
MONDO:0008587	tracheobronchopathia osteochondroplastica	oboInOwl:hasDbXref	Orphanet:3348	Tracheobronchopathia osteochondroplastica	semapv:ManualMappingCuration
MONDO:0008588	hereditary geniospasm	oboInOwl:hasDbXref	Orphanet:53372	Hereditary geniospasm	semapv:ManualMappingCuration
MONDO:0008591	tremor-nystagmus-duodenal ulcer syndrome	oboInOwl:hasDbXref	Orphanet:3350	Tremor-nystagmus-duodenal ulcer syndrome	semapv:ManualMappingCuration
MONDO:0008592	tricho-dento-osseous syndrome	oboInOwl:hasDbXref	Orphanet:3352	Tricho-dento-osseous syndrome	semapv:ManualMappingCuration
MONDO:0008594	familial multiple discoid fibromas	oboInOwl:hasDbXref	Orphanet:538756	Familial multiple discoid fibromas	semapv:ManualMappingCuration
MONDO:0008598	trichodysplasia-xeroderma syndrome	oboInOwl:hasDbXref	Orphanet:3361	Trichodysplasia-xeroderma syndrome	semapv:ManualMappingCuration
MONDO:0008599	trigeminal neuralgia	oboInOwl:hasDbXref	Orphanet:221091	Trigeminal neuralgia	semapv:ManualMappingCuration
MONDO:0008606	Say-field-Coldwell syndrome	oboInOwl:hasDbXref	Orphanet:3133	OBSOLETE: Say-Field-Coldwell syndrome	semapv:ManualMappingCuration
MONDO:0008607	triphalangeal thumbs-brachyectrodactyly syndrome	oboInOwl:hasDbXref	Orphanet:2947	Triphalangeal thumbs-brachyectrodactyly syndrome	semapv:ManualMappingCuration
MONDO:0008608	Down syndrome	oboInOwl:hasDbXref	Orphanet:870	Down syndrome	semapv:ManualMappingCuration
MONDO:0008610	blue color blindness	oboInOwl:hasDbXref	Orphanet:88629	Tritanopia	semapv:ManualMappingCuration
MONDO:0008611	humerus trochlea aplasia	oboInOwl:hasDbXref	Orphanet:3383	Humerus trochlea aplasia	semapv:ManualMappingCuration
MONDO:0008618	mesomelic dwarfism, Reinhardt-Pfeiffer type	oboInOwl:hasDbXref	Orphanet:2634	Mesomelic dwarfism, Reinhardt-Pfeiffer type	semapv:ManualMappingCuration
MONDO:0008619	ulna metaphyseal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:1837	Metaphyseal chondrodysplasia, Rosenberg type	semapv:ManualMappingCuration
MONDO:0008620	upper limb mesomelic dysplasia	oboInOwl:hasDbXref	Orphanet:2497	Upper limb mesomelic dysplasia, type Fryns	semapv:ManualMappingCuration
MONDO:0008621	uncombable hair syndrome	oboInOwl:hasDbXref	Orphanet:1410	Uncombable hair syndrome	semapv:ManualMappingCuration
MONDO:0008622	tricho-retino-dento-digital syndrome	oboInOwl:hasDbXref	Orphanet:1264	Tricho-retino-dento-digital syndrome	semapv:ManualMappingCuration
MONDO:0008624	Upington disease	oboInOwl:hasDbXref	Orphanet:3408	Upington disease	semapv:ManualMappingCuration
MONDO:0008633	Muckle-Wells syndrome	oboInOwl:hasDbXref	Orphanet:575	Muckle-Wells syndrome	semapv:ManualMappingCuration
MONDO:0008636	double uterus-hemivagina-renal agenesis syndrome	oboInOwl:hasDbXref	Orphanet:3411	Double uterus-hemivagina-renal agenesis syndrome	semapv:ManualMappingCuration
MONDO:0008637	bifid uvula	oboInOwl:hasDbXref	Orphanet:99771	Bifid uvula	semapv:ManualMappingCuration
MONDO:0008641	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	oboInOwl:hasDbXref	Orphanet:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	semapv:ManualMappingCuration
MONDO:0008642	VACTERL/vater association	oboInOwl:hasDbXref	Orphanet:887	VACTERL/VATER association	semapv:ManualMappingCuration
MONDO:0008645	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	oboInOwl:hasDbXref	Orphanet:3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome	semapv:ManualMappingCuration
MONDO:0008650	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	oboInOwl:hasDbXref	Orphanet:2064	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	semapv:ManualMappingCuration
MONDO:0008652	congenital vertical talus	oboInOwl:hasDbXref	Orphanet:178382	Congenital vertical talus	semapv:ManualMappingCuration
MONDO:0008659	transcobalamin I deficiency	oboInOwl:hasDbXref	Orphanet:2967	Transcobalamin I deficiency	semapv:ManualMappingCuration
MONDO:0008660	autosomal dominant hypophosphatemic rickets	oboInOwl:hasDbXref	Orphanet:89937	Autosomal dominant hypophosphatemic rickets	semapv:ManualMappingCuration
MONDO:0008661	vitiligo	oboInOwl:hasDbXref	Orphanet:247871	OBSOLETE: Vitiligo-associated autoimmune disease	semapv:ManualMappingCuration
MONDO:0008662	autosomal dominant vitreoretinochoroidopathy	oboInOwl:hasDbXref	Orphanet:3086	Autosomal dominant vitreoretinochoroidopathy	semapv:ManualMappingCuration
MONDO:0008663	snowflake vitreoretinal degeneration	oboInOwl:hasDbXref	Orphanet:91496	Snowflake vitreoretinal degeneration	semapv:ManualMappingCuration
MONDO:0008665	ptosis-vocal cord paralysis syndrome	oboInOwl:hasDbXref	Orphanet:2997	Ptosis-vocal cord paralysis syndrome	semapv:ManualMappingCuration
MONDO:0008667	von Hippel-Lindau disease	oboInOwl:hasDbXref	Orphanet:892	Von Hippel-Lindau disease	semapv:ManualMappingCuration
MONDO:0008668	von Willebrand disease 1	oboInOwl:hasDbXref	Orphanet:166078	Von Willebrand disease type 1	semapv:ManualMappingCuration
MONDO:0008670	Waardenburg syndrome type 1	oboInOwl:hasDbXref	Orphanet:894	Waardenburg syndrome type 1	semapv:ManualMappingCuration
MONDO:0008672	Watson syndrome	oboInOwl:hasDbXref	Orphanet:3444	Watson syndrome	semapv:ManualMappingCuration
MONDO:0008673	acrofacial dysostosis, Weyers type	oboInOwl:hasDbXref	Orphanet:952	Acrofacial dysostosis, Weyers type	semapv:ManualMappingCuration
MONDO:0008675	Freeman-Sheldon syndrome	oboInOwl:hasDbXref	Orphanet:2053	Freeman-Sheldon syndrome	semapv:ManualMappingCuration
MONDO:0008678	Williams syndrome	oboInOwl:hasDbXref	Orphanet:904	Williams syndrome	semapv:ManualMappingCuration
MONDO:0008681	WAGR syndrome	oboInOwl:hasDbXref	Orphanet:893	WAGR syndrome	semapv:ManualMappingCuration
MONDO:0008682	Denys-Drash syndrome	oboInOwl:hasDbXref	Orphanet:220	Denys-Drash syndrome	semapv:ManualMappingCuration
MONDO:0008684	Wolf-Hirschhorn syndrome	oboInOwl:hasDbXref	Orphanet:280	Wolf-Hirschhorn syndrome	semapv:ManualMappingCuration
MONDO:0008685	Wolff-Parkinson-White syndrome	oboInOwl:hasDbXref	Orphanet:907	NON RARE IN EUROPE: Wolff-Parkinson-White syndrome	semapv:ManualMappingCuration
MONDO:0008686	isolated familial wooly hair disorder	oboInOwl:hasDbXref	Orphanet:170	Woolly hair	semapv:ManualMappingCuration
MONDO:0008688	WT limb-blood syndrome	oboInOwl:hasDbXref	Orphanet:3466	WT limb-blood syndrome	semapv:ManualMappingCuration
MONDO:0008692	abetalipoproteinemia	oboInOwl:hasDbXref	Orphanet:14	Abetalipoproteinemia	semapv:ManualMappingCuration
MONDO:0008693	ablepharon macrostomia syndrome	oboInOwl:hasDbXref	Orphanet:920	Ablepharon macrostomia syndrome	semapv:ManualMappingCuration
MONDO:0008694	pseudoprogeria syndrome	oboInOwl:hasDbXref	Orphanet:2985	Pseudoprogeria syndrome	semapv:ManualMappingCuration
MONDO:0008695	chorea-acanthocytosis	oboInOwl:hasDbXref	Orphanet:2388	Choreoacanthocytosis	semapv:ManualMappingCuration
MONDO:0008696	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	oboInOwl:hasDbXref	Orphanet:90301	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	semapv:ManualMappingCuration
MONDO:0008699	achalasia microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:929	Achalasia-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0008700	acheiropody	oboInOwl:hasDbXref	Orphanet:931	Isolated acheiropodia	semapv:ManualMappingCuration
MONDO:0008701	achondrogenesis type IA	oboInOwl:hasDbXref	Orphanet:93299	Achondrogenesis type 1A	semapv:ManualMappingCuration
MONDO:0008702	achondrogenesis type II	oboInOwl:hasDbXref	Orphanet:93296	Achondrogenesis type 2	semapv:ManualMappingCuration
MONDO:0008703	acromesomelic dysplasia 2A	oboInOwl:hasDbXref	Orphanet:2098	Acromesomelic dysplasia, Grebe type	semapv:ManualMappingCuration
MONDO:0008704	short-limb skeletal dysplasia with severe combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:935	Short-limb skeletal dysplasia with severe combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0008705	lysosomal acid phosphatase deficiency	oboInOwl:hasDbXref	Orphanet:35121	Lysosomal acid phosphatase deficiency	semapv:ManualMappingCuration
MONDO:0008706	Ackerman syndrome	oboInOwl:hasDbXref	Orphanet:2561	Pyramidal molars-abnormal upper lip syndrome	semapv:ManualMappingCuration
MONDO:0008707	acro-renal-mandibular syndrome	oboInOwl:hasDbXref	Orphanet:958	Acro-renal-mandibular syndrome	semapv:ManualMappingCuration
MONDO:0008708	acrocallosal syndrome	oboInOwl:hasDbXref	Orphanet:36	Acrocallosal syndrome	semapv:ManualMappingCuration
MONDO:0008709	acrocephalopolydactyly	oboInOwl:hasDbXref	Orphanet:221054	Acrocephalopolydactyly	semapv:ManualMappingCuration
MONDO:0008711	Goodman syndrome	oboInOwl:hasDbXref	Orphanet:65798	Goodman syndrome	semapv:ManualMappingCuration
MONDO:0008712	acrocraniofacial dysostosis	oboInOwl:hasDbXref	Orphanet:949	Acrocraniofacial dysostosis	semapv:ManualMappingCuration
MONDO:0008713	acrodermatitis enteropathica	oboInOwl:hasDbXref	Orphanet:37	Acrodermatitis enteropathica	semapv:ManualMappingCuration
MONDO:0008714	acrofacial dysostosis Rodriguez type	oboInOwl:hasDbXref	Orphanet:1788	Acrofacial dysostosis, Rodríguez type	semapv:ManualMappingCuration
MONDO:0008715	acrofrontofacionasal dysostosis	oboInOwl:hasDbXref	Orphanet:1784	Acrofrontofacionasal dysostosis	semapv:ManualMappingCuration
MONDO:0008716	acrogeria	oboInOwl:hasDbXref	Orphanet:2500	Acrogeria	semapv:ManualMappingCuration
MONDO:0008717	acromesomelic dysplasia 2C, Hunter-Thompson type	oboInOwl:hasDbXref	Orphanet:968	Acromesomelic dysplasia, Hunter-Thompson type	semapv:ManualMappingCuration
MONDO:0008718	Morvan syndrome	oboInOwl:hasDbXref	Orphanet:83467	Morvan syndrome	semapv:ManualMappingCuration
MONDO:0008720	congenital isolated adrenocorticotropic hormone deficiency	oboInOwl:hasDbXref	Orphanet:199296	Congenital isolated ACTH deficiency	semapv:ManualMappingCuration
MONDO:0008721	medium chain acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:42	Medium chain acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0008722	short chain acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:26792	Short chain acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0008723	very long chain acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:26793	Very long chain acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0008724	adducted thumbs-arthrogryposis syndrome, Christian type	oboInOwl:hasDbXref	Orphanet:2952	Adducted thumbs-arthrogryposis syndrome, Christian type	semapv:ManualMappingCuration
MONDO:0008725	congenital lipoid adrenal hyperplasia due to STAR deficency	oboInOwl:hasDbXref	Orphanet:90790	Congenital lipoid adrenal hyperplasia due to STAR deficency	semapv:ManualMappingCuration
MONDO:0008726	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	oboInOwl:hasDbXref	Orphanet:63269	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	semapv:ManualMappingCuration
MONDO:0008727	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0008728	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	oboInOwl:hasDbXref	Orphanet:90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	semapv:ManualMappingCuration
MONDO:0008729	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	oboInOwl:hasDbXref	Orphanet:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	semapv:ManualMappingCuration
MONDO:0008730	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	oboInOwl:hasDbXref	Orphanet:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	semapv:ManualMappingCuration
MONDO:0008731	familial adrenal hypoplasia with absent pituitary luteinizing hormone	oboInOwl:hasDbXref	Orphanet:95700	Familial adrenal hypoplasia with absent pituitary luteinizing hormone	semapv:ManualMappingCuration
MONDO:0008733	familial glucocorticoid deficiency	oboInOwl:hasDbXref	Orphanet:361	Familial glucocorticoid deficiency	semapv:ManualMappingCuration
MONDO:0008737	congenital afibrinogenemia	oboInOwl:hasDbXref	Orphanet:98880	Familial afibrinogenemia	semapv:ManualMappingCuration
MONDO:0008740	agnathia-otocephaly complex	oboInOwl:hasDbXref	Orphanet:990	Agnathia-holoprosencephaly-situs inversus syndrome	semapv:ManualMappingCuration
MONDO:0008741	PAGOD syndrome	oboInOwl:hasDbXref	Orphanet:991	PAGOD syndrome	semapv:ManualMappingCuration
MONDO:0008742	autosomal dominant severe congenital neutropenia	oboInOwl:hasDbXref	Orphanet:486	Autosomal dominant severe congenital neutropenia	semapv:ManualMappingCuration
MONDO:0008743	Stimmler syndrome	oboInOwl:hasDbXref	Orphanet:3199	Stimmler syndrome	semapv:ManualMappingCuration
MONDO:0008744	alar cartilages hypoplasia-coloboma-telecanthus syndrome	oboInOwl:hasDbXref	Orphanet:2007	Alar cartilages hypoplasia-coloboma-telecanthus syndrome	semapv:ManualMappingCuration
MONDO:0008745	oculocutaneous albinism type 1A	oboInOwl:hasDbXref	Orphanet:79431	Oculocutaneous albinism type 1A	semapv:ManualMappingCuration
MONDO:0008746	oculocutaneous albinism type 2	oboInOwl:hasDbXref	Orphanet:79432	Oculocutaneous albinism type 2	semapv:ManualMappingCuration
MONDO:0008747	oculocutaneous albinism type 3	oboInOwl:hasDbXref	Orphanet:79433	Oculocutaneous albinism type 3	semapv:ManualMappingCuration
MONDO:0008749	pseudohypoparathyroidism type 2	oboInOwl:hasDbXref	Orphanet:94090	Pseudohypoparathyroidism type 2	semapv:ManualMappingCuration
MONDO:0008750	microcephaly-albinism-digital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2513	Microcephaly-albinism-digital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0008752	Alexander disease	oboInOwl:hasDbXref	Orphanet:58	Alexander disease	semapv:ManualMappingCuration
MONDO:0008753	alkaptonuria	oboInOwl:hasDbXref	Orphanet:56	Alkaptonuria	semapv:ManualMappingCuration
MONDO:0008754	alopecia - contractures - dwarfism - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1005	Alopecia-contractures-dwarfism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008755	Moynahan syndrome	oboInOwl:hasDbXref	Orphanet:2574	Moynahan syndrome	semapv:ManualMappingCuration
MONDO:0008756	alopecia - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2850	Alopecia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008757	alopecia universalis congenita	oboInOwl:hasDbXref	Orphanet:701	Alopecia universalis	semapv:ManualMappingCuration
MONDO:0008758	mitochondrial DNA depletion syndrome 4a	oboInOwl:hasDbXref	Orphanet:726	Alpers-Huttenlocher syndrome	semapv:ManualMappingCuration
MONDO:0008759	oxoglutaricaciduria	oboInOwl:hasDbXref	Orphanet:31	Oxoglutaric aciduria	semapv:ManualMappingCuration
MONDO:0008760	beta-ketothiolase deficiency	oboInOwl:hasDbXref	Orphanet:134	Beta-ketothiolase deficiency	semapv:ManualMappingCuration
MONDO:0008762	autosomal recessive Alport syndrome	oboInOwl:hasDbXref	Orphanet:88919	Autosomal recessive Alport syndrome	semapv:ManualMappingCuration
MONDO:0008763	Alstrom syndrome	oboInOwl:hasDbXref	Orphanet:64	Alström syndrome	semapv:ManualMappingCuration
MONDO:0008766	amaurosis-hypertrichosis syndrome	oboInOwl:hasDbXref	Orphanet:1021	Amaurosis-hypertrichosis syndrome	semapv:ManualMappingCuration
MONDO:0008767	neuronal ceroid lipofuscinosis 3	oboInOwl:hasDbXref	Orphanet:228346	CLN3 disease	semapv:ManualMappingCuration
MONDO:0008768	ceroid lipofuscinosis, neuronal, 6B (Kufs type)	oboInOwl:hasDbXref	Orphanet:228340	OBSOLETE: CLN4A disease	semapv:ManualMappingCuration
MONDO:0008769	neuronal ceroid lipofuscinosis 2	oboInOwl:hasDbXref	Orphanet:228349	CLN2 disease	semapv:ManualMappingCuration
MONDO:0008771	amelogenesis imperfecta type 1G	oboInOwl:hasDbXref	Orphanet:1031	Enamel-renal syndrome	semapv:ManualMappingCuration
MONDO:0008771	amelogenesis imperfecta type 1G	oboInOwl:hasDbXref	Orphanet:171836	Amelogenesis imperfecta-gingival hyperplasia syndrome	semapv:ManualMappingCuration
MONDO:0008774	2-aminoadipic 2-oxoadipic aciduria	oboInOwl:hasDbXref	Orphanet:79154	2-aminoadipic 2-oxoadipic aciduria	semapv:ManualMappingCuration
MONDO:0008777	gelatinous drop-like corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98957	Gelatinous drop-like corneal dystrophy	semapv:ManualMappingCuration
MONDO:0008783	Tangier disease	oboInOwl:hasDbXref	Orphanet:31150	Tangier disease	semapv:ManualMappingCuration
MONDO:0008787	microcytic anemia with liver iron overload	oboInOwl:hasDbXref	Orphanet:83642	Microcytic anemia with liver iron overload	semapv:ManualMappingCuration
MONDO:0008788	IRIDA syndrome	oboInOwl:hasDbXref	Orphanet:209981	IRIDA syndrome	semapv:ManualMappingCuration
MONDO:0008791	anencephaly 1	oboInOwl:hasDbXref	Orphanet:1048	Isolated anencephaly/exencephaly	semapv:ManualMappingCuration
MONDO:0008792	familial angiolipomatosis	oboInOwl:hasDbXref	Orphanet:199279	Familial angiolipomatosis	semapv:ManualMappingCuration
MONDO:0008795	aniridia-cerebellar ataxia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008796	aniridia-renal agenesis-psychomotor retardation syndrome	oboInOwl:hasDbXref	Orphanet:1064	Aniridia-renal agenesis-psychomotor retardation syndrome	semapv:ManualMappingCuration
MONDO:0008797	anodontia	oboInOwl:hasDbXref	Orphanet:99797	Anodontia	semapv:ManualMappingCuration
MONDO:0008798	nonsyndromic congenital nail disorder 4	oboInOwl:hasDbXref	Orphanet:94150	Anonychia congenita totalis	semapv:ManualMappingCuration
MONDO:0008799	anophthalmia/microphthalmia-esophageal atresia syndrome	oboInOwl:hasDbXref	Orphanet:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	semapv:ManualMappingCuration
MONDO:0008800	microphthalmia with limb anomalies	oboInOwl:hasDbXref	Orphanet:1106	Microphthalmia with limb anomalies	semapv:ManualMappingCuration
MONDO:0008803	Antley-Bixler syndrome	oboInOwl:hasDbXref	Orphanet:83	Antley-Bixler syndrome	semapv:ManualMappingCuration
MONDO:0008806	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	oboInOwl:hasDbXref	Orphanet:1112	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	semapv:ManualMappingCuration
MONDO:0008808	aplasia cutis congenita-intestinal lymphangiectasia syndrome	oboInOwl:hasDbXref	Orphanet:1116	Aplasia cutis congenita-intestinal lymphangiectasia syndrome	semapv:ManualMappingCuration
MONDO:0008809	polyneuropathy-hand defect syndrome	oboInOwl:hasDbXref	Orphanet:2926	Digital extensor muscle aplasia-polyneuropathy	semapv:ManualMappingCuration
MONDO:0008810	familial apolipoprotein C-II deficiency	oboInOwl:hasDbXref	Orphanet:309020	Familial apolipoprotein C-II deficiency	semapv:ManualMappingCuration
MONDO:0008811	XK aprosencephaly	oboInOwl:hasDbXref	Orphanet:3469	XK aprosencephaly syndrome	semapv:ManualMappingCuration
MONDO:0008812	AREDYLD syndrome	oboInOwl:hasDbXref	Orphanet:1133	AREDYLD syndrome	semapv:ManualMappingCuration
MONDO:0008813	arachnoid cyst	oboInOwl:hasDbXref	Orphanet:2356	Arachnoid cyst	semapv:ManualMappingCuration
MONDO:0008814	arginase deficiency	oboInOwl:hasDbXref	Orphanet:90	Argininemia	semapv:ManualMappingCuration
MONDO:0008815	argininosuccinic aciduria	oboInOwl:hasDbXref	Orphanet:23	Argininosuccinic aciduria	semapv:ManualMappingCuration
MONDO:0008816	Chiari malformation type II	oboInOwl:hasDbXref	Orphanet:1136	OBSOLETE: Arnold-Chiari malformation type II	semapv:ManualMappingCuration
MONDO:0008818	arterial tortuosity syndrome	oboInOwl:hasDbXref	Orphanet:3342	Arterial tortuosity syndrome	semapv:ManualMappingCuration
MONDO:0008823	arthrogryposis multiplex congenita 2, neurogenic type	oboInOwl:hasDbXref	Orphanet:1143	Neurogenic arthrogryposis multiplex congenita	semapv:ManualMappingCuration
MONDO:0008825	arthrogryposis multiplex congenita-whistling face syndrome	oboInOwl:hasDbXref	Orphanet:1150	Arthrogryposis multiplex congenita-whistling face syndrome	semapv:ManualMappingCuration
MONDO:0008826	arthrogryposis-hyperkeratosis syndrome, lethal form	oboInOwl:hasDbXref	Orphanet:1485	Arthrogryposis-hyperkeratosis syndrome, lethal form	semapv:ManualMappingCuration
MONDO:0008827	progressive pseudorheumatoid arthropathy of childhood	oboInOwl:hasDbXref	Orphanet:1159	Progressive pseudorheumatoid dysplasia	semapv:ManualMappingCuration
MONDO:0008828	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	oboInOwl:hasDbXref	Orphanet:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	semapv:ManualMappingCuration
MONDO:0008829	chylous ascites	oboInOwl:hasDbXref	Orphanet:1160	Chylous ascites	semapv:ManualMappingCuration
MONDO:0008830	aspartylglucosaminuria	oboInOwl:hasDbXref	Orphanet:93	Aspartylglucosaminuria	semapv:ManualMappingCuration
MONDO:0008832	right atrial isomerism	oboInOwl:hasDbXref	Orphanet:97548	Right sided atrial isomerism	semapv:ManualMappingCuration
MONDO:0008838	ataxia - deafness - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1188	Ataxia-deafness-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008840	ataxia telangiectasia	oboInOwl:hasDbXref	Orphanet:100	Ataxia-telangiectasia	semapv:ManualMappingCuration
MONDO:0008842	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	oboInOwl:hasDbXref	Orphanet:1168	Ataxia-oculomotor apraxia type 1	semapv:ManualMappingCuration
MONDO:0008843	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	oboInOwl:hasDbXref	Orphanet:1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	semapv:ManualMappingCuration
MONDO:0008846	atransferrinemia	oboInOwl:hasDbXref	Orphanet:1195	Congenital atransferrinemia	semapv:ManualMappingCuration
MONDO:0008847	atrichia with papular lesions	oboInOwl:hasDbXref	Orphanet:86819	Atrichia with papular lesions	semapv:ManualMappingCuration
MONDO:0008849	atrophoderma vermiculata	oboInOwl:hasDbXref	Orphanet:79100	Atrophoderma vermiculata	semapv:ManualMappingCuration
MONDO:0008850	Cooper-Jabs syndrome	oboInOwl:hasDbXref	Orphanet:1488	Cooper-Jabs syndrome	semapv:ManualMappingCuration
MONDO:0008853	Barber-Say syndrome	oboInOwl:hasDbXref	Orphanet:1231	Barber-Say syndrome	semapv:ManualMappingCuration
MONDO:0008855	MHC class II deficiency	oboInOwl:hasDbXref	Orphanet:572	Immunodeficiency by defective expression of MHC class II	semapv:ManualMappingCuration
MONDO:0008857	Beemer-Ertbruggen syndrome	oboInOwl:hasDbXref	Orphanet:1237	Beemer-Ertbruggen syndrome	semapv:ManualMappingCuration
MONDO:0008858	Behr syndrome	oboInOwl:hasDbXref	Orphanet:1239	Behr syndrome	semapv:ManualMappingCuration
MONDO:0008863	sitosterolemia	oboInOwl:hasDbXref	Orphanet:101022	Mediterranean macrothrombocytopenia	semapv:ManualMappingCuration
MONDO:0008863	sitosterolemia	oboInOwl:hasDbXref	Orphanet:2882	Sitosterolemia	semapv:ManualMappingCuration
MONDO:0008864	Biemond syndrome type 2	oboInOwl:hasDbXref	Orphanet:141333	Biemond syndrome type 2	semapv:ManualMappingCuration
MONDO:0008865	Bietti crystalline corneoretinal dystrophy	oboInOwl:hasDbXref	Orphanet:41751	Bietti crystalline dystrophy	semapv:ManualMappingCuration
MONDO:0008867	biliary atresia	oboInOwl:hasDbXref	Orphanet:30391	Isolated biliary atresia	semapv:ManualMappingCuration
MONDO:0008870	bird headed-dwarfism, Montreal type	oboInOwl:hasDbXref	Orphanet:2617	Microcephalic primordial dwarfism, Montreal type	semapv:ManualMappingCuration
MONDO:0008872	microcephalic osteodysplastic primordial dwarfism type II	oboInOwl:hasDbXref	Orphanet:2637	Microcephalic osteodysplastic primordial dwarfism type II	semapv:ManualMappingCuration
MONDO:0008874	Bangstad syndrome	oboInOwl:hasDbXref	Orphanet:1227	Bangstad syndrome	semapv:ManualMappingCuration
MONDO:0008875	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	oboInOwl:hasDbXref	Orphanet:2057	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	semapv:ManualMappingCuration
MONDO:0008876	Bloom syndrome	oboInOwl:hasDbXref	Orphanet:125	Bloom syndrome	semapv:ManualMappingCuration
MONDO:0008877	blue diaper syndrome	oboInOwl:hasDbXref	Orphanet:94086	Blue diaper syndrome	semapv:ManualMappingCuration
MONDO:0008878	bone dysplasia, lethal Holmgren type	oboInOwl:hasDbXref	Orphanet:1842	Bone dysplasia, lethal Holmgren type	semapv:ManualMappingCuration
MONDO:0008879	Bowen-Conradi syndrome	oboInOwl:hasDbXref	Orphanet:1270	Bowen-Conradi syndrome	semapv:ManualMappingCuration
MONDO:0008880	Bowen syndrome of multiple malformations	oboInOwl:hasDbXref	Orphanet:1271	Bowen syndrome	semapv:ManualMappingCuration
MONDO:0008881	kyphomelic dysplasia	oboInOwl:hasDbXref	Orphanet:1801	Kyphomelic dysplasia	semapv:ManualMappingCuration
MONDO:0008882	congenital bowing of long bones	oboInOwl:hasDbXref	Orphanet:2292	OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome	semapv:ManualMappingCuration
MONDO:0008884	oculoosteocutaneous syndrome	oboInOwl:hasDbXref	Orphanet:2713	Oculoosteocutaneous syndrome	semapv:ManualMappingCuration
MONDO:0008885	Elsahy-Waters syndrome	oboInOwl:hasDbXref	Orphanet:1299	Branchioskeletogenital syndrome	semapv:ManualMappingCuration
MONDO:0008885	Elsahy-Waters syndrome	oboInOwl:hasDbXref	Orphanet:157788	Hypospadias-hypertelorism-coloboma and deafness syndrome	semapv:ManualMappingCuration
MONDO:0008886	Sabinas brittle hair syndrome	oboInOwl:hasDbXref	Orphanet:3123	Brittle hair syndrome, Sabinas type	semapv:ManualMappingCuration
MONDO:0008888	Williams-Campbell syndrome	oboInOwl:hasDbXref	Orphanet:411501	Williams-Campbell syndrome	semapv:ManualMappingCuration
MONDO:0008889	thromboangiitis obliterans	oboInOwl:hasDbXref	Orphanet:36258	Buerger disease	semapv:ManualMappingCuration
MONDO:0008891	riboflavin transporter deficiency	oboInOwl:hasDbXref	Orphanet:97229	Riboflavin transporter deficiency	semapv:ManualMappingCuration
MONDO:0008892	progressive familial intrahepatic cholestasis type 1	oboInOwl:hasDbXref	Orphanet:79306	Progressive familial intrahepatic cholestasis type 1	semapv:ManualMappingCuration
MONDO:0008893	C syndrome	oboInOwl:hasDbXref	Orphanet:1308	C syndrome	semapv:ManualMappingCuration
MONDO:0008894	cataract-hypertrichosis-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1375	Cataract-hypertrichosis-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008895	hereditary arterial and articular multiple calcification syndrome	oboInOwl:hasDbXref	Orphanet:289601	Hereditary arterial and articular multiple calcification syndrome	semapv:ManualMappingCuration
MONDO:0008896	campomelia, Cumming type	oboInOwl:hasDbXref	Orphanet:1318	Campomelia, Cumming type	semapv:ManualMappingCuration
MONDO:0008898	camptodactyly syndrome, Guadalajara type 1	oboInOwl:hasDbXref	Orphanet:1327	Camptodactyly syndrome, Guadalajara type 1	semapv:ManualMappingCuration
MONDO:0008899	camptodactyly syndrome, Guadalajara type 2	oboInOwl:hasDbXref	Orphanet:1326	Camptodactyly syndrome, Guadalajara type 2	semapv:ManualMappingCuration
MONDO:0008900	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	oboInOwl:hasDbXref	Orphanet:1321	Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0008901	Tel Hashomer camptodactyly syndrome	oboInOwl:hasDbXref	Orphanet:3292	Tel Hashomer camptodactyly syndrome	semapv:ManualMappingCuration
MONDO:0008905	predisposition to invasive fungal disease due to CARD9 deficiency	oboInOwl:hasDbXref	Orphanet:457088	Predisposition to invasive fungal disease due to CARD9 deficiency	semapv:ManualMappingCuration
MONDO:0008907	PMM2-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79318	PMM2-CDG	semapv:ManualMappingCuration
MONDO:0008908	MGAT2-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79329	MGAT2-CDG	semapv:ManualMappingCuration
MONDO:0008915	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0008917	heart defects-limb shortening syndrome	oboInOwl:hasDbXref	Orphanet:1354	Heart defects-limb shortening syndrome	semapv:ManualMappingCuration
MONDO:0008918	carnitine-acylcarnitine translocase deficiency	oboInOwl:hasDbXref	Orphanet:159	Carnitine-acylcarnitine translocase deficiency	semapv:ManualMappingCuration
MONDO:0008919	systemic primary carnitine deficiency disease	oboInOwl:hasDbXref	Orphanet:158	Systemic primary carnitine deficiency	semapv:ManualMappingCuration
MONDO:0008921	carnosinemia	oboInOwl:hasDbXref	Orphanet:1361	Carnosinase deficiency	semapv:ManualMappingCuration
MONDO:0008922	Sengers syndrome	oboInOwl:hasDbXref	Orphanet:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	semapv:ManualMappingCuration
MONDO:0008923	autosomal recessive palmoplantar keratoderma and congenital alopecia	oboInOwl:hasDbXref	Orphanet:1366	Autosomal recessive palmoplantar keratoderma and congenital alopecia	semapv:ManualMappingCuration
MONDO:0008924	congenital cataract-ichthyosis syndrome	oboInOwl:hasDbXref	Orphanet:1376	OBSOLETE: Congenital cataract-ichthyosis syndrome	semapv:ManualMappingCuration
MONDO:0008925	cataract 46 juvenile-onset	oboInOwl:hasDbXref	Orphanet:98987	OBSOLETE: Cataract, Hutterite type	semapv:ManualMappingCuration
MONDO:0008926	COFS syndrome	oboInOwl:hasDbXref	Orphanet:1466	COFS syndrome	semapv:ManualMappingCuration
MONDO:0008927	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	oboInOwl:hasDbXref	Orphanet:435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	semapv:ManualMappingCuration
MONDO:0008928	cataract-ataxia-deafness syndrome	oboInOwl:hasDbXref	Orphanet:1368	Cataract-ataxia-deafness syndrome	semapv:ManualMappingCuration
MONDO:0008931	Cenani-Lenz syndactyly syndrome	oboInOwl:hasDbXref	Orphanet:3258	Cenani-Lenz syndrome	semapv:ManualMappingCuration
MONDO:0008934	cerebellar ataxia-ectodermal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:1174	Cerebellar ataxia-ectodermal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0008935	cerebellar ataxia-hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:1173	Cerebellar ataxia-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0008938	early-onset cerebellar ataxia with retained tendon reflexes	oboInOwl:hasDbXref	Orphanet:1177	Early-onset cerebellar ataxia with retained tendon reflexes	semapv:ManualMappingCuration
MONDO:0008939	isolated cerebellar hypoplasia/agenesis	oboInOwl:hasDbXref	Orphanet:1398	Isolated cerebellar agenesis	semapv:ManualMappingCuration
MONDO:0008941	hepatic fibrosis-renal cysts-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2031	Hepatic fibrosis-renal cysts-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008943	autosomal recessive spinocerebellar ataxia 2	oboInOwl:hasDbXref	Orphanet:1170	Autosomal recessive cerebelloparenchymal disorder type 3	semapv:ManualMappingCuration
MONDO:0008947	bilateral striopallidodentate calcinosis	oboInOwl:hasDbXref	Orphanet:1980	Bilateral striopallidodentate calcinosis	semapv:ManualMappingCuration
MONDO:0008948	cerebrotendinous xanthomatosis	oboInOwl:hasDbXref	Orphanet:909	Cerebrotendinous xanthomatosis	semapv:ManualMappingCuration
MONDO:0008959	CHAND syndrome	oboInOwl:hasDbXref	Orphanet:1401	CHAND syndrome	semapv:ManualMappingCuration
MONDO:0008960	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:90103	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0008961	Charcot-Marie-Tooth disease type 4A	oboInOwl:hasDbXref	Orphanet:99948	Charcot-Marie-Tooth disease type 4A	semapv:ManualMappingCuration
MONDO:0008962	Griscelli syndrome type 1	oboInOwl:hasDbXref	Orphanet:79476	Griscelli syndrome type 1	semapv:ManualMappingCuration
MONDO:0008963	Chediak-Higashi syndrome	oboInOwl:hasDbXref	Orphanet:167	Chédiak-Higashi syndrome	semapv:ManualMappingCuration
MONDO:0008964	congenital secretory chloride diarrhea 1	oboInOwl:hasDbXref	Orphanet:53689	Congenital chloride diarrhea	semapv:ManualMappingCuration
MONDO:0008965	CHARGE syndrome	oboInOwl:hasDbXref	Orphanet:138	CHARGE syndrome	semapv:ManualMappingCuration
MONDO:0008966	Aagenaes syndrome	oboInOwl:hasDbXref	Orphanet:1414	Cholestasis-lymphedema syndrome	semapv:ManualMappingCuration
MONDO:0008967	congenital bile acid synthesis defect 4	oboInOwl:hasDbXref	Orphanet:79095	Congenital bile acid synthesis defect type 4	semapv:ManualMappingCuration
MONDO:0008970	chondrodysplasia Blomstrand type	oboInOwl:hasDbXref	Orphanet:50945	Blomstrand lethal chondrodysplasia	semapv:ManualMappingCuration
MONDO:0008972	rhizomelic chondrodysplasia punctata type 1	oboInOwl:hasDbXref	Orphanet:309789	Rhizomelic chondrodysplasia punctata type 1	semapv:ManualMappingCuration
MONDO:0008973	chondrodysplasia punctata, Toriello type	oboInOwl:hasDbXref	Orphanet:79347	Chondrodysplasia punctata, Toriello type	semapv:ManualMappingCuration
MONDO:0008974	Greenberg dysplasia	oboInOwl:hasDbXref	Orphanet:1426	Greenberg dysplasia	semapv:ManualMappingCuration
MONDO:0008975	otospondylomegaepiphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:1427	Autosomal recessive otospondylomegaepiphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0008977	chondrosarcoma	oboInOwl:hasDbXref	Orphanet:55880	Chondrosarcoma	semapv:ManualMappingCuration
MONDO:0008978	chordoma	oboInOwl:hasDbXref	Orphanet:178	Chordoma	semapv:ManualMappingCuration
MONDO:0008980	ataxia-hypogonadism-choroidal dystrophy syndrome	oboInOwl:hasDbXref	Orphanet:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	semapv:ManualMappingCuration
MONDO:0008981	infantile choroidocerebral calcification syndrome	oboInOwl:hasDbXref	Orphanet:1313	Infantile choroidocerebral calcification syndrome	semapv:ManualMappingCuration
MONDO:0008982	central areolar choroidal dystrophy	oboInOwl:hasDbXref	Orphanet:75377	Central areolar choroidal dystrophy	semapv:ManualMappingCuration
MONDO:0008988	citrullinemia type I	oboInOwl:hasDbXref	Orphanet:247525	Citrullinemia type I	semapv:ManualMappingCuration
MONDO:0008990	cleft larynx, posterior	oboInOwl:hasDbXref	Orphanet:2005	OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0008991	Verloove Vanhorick-Brubakk syndrome	oboInOwl:hasDbXref	Orphanet:3429	Verloove Vanhorick-Brubakk syndrome	semapv:ManualMappingCuration
MONDO:0008992	Juberg-Hayward syndrome	oboInOwl:hasDbXref	Orphanet:2319	Juberg-Hayward syndrome	semapv:ManualMappingCuration
MONDO:0008993	cleft palate-stapes fixation-oligodontia syndrome	oboInOwl:hasDbXref	Orphanet:2010	Cleft palate-stapes fixation-oligodontia syndrome	semapv:ManualMappingCuration
MONDO:0008995	Yunis-Varon syndrome	oboInOwl:hasDbXref	Orphanet:3472	Yunis-Varon syndrome	semapv:ManualMappingCuration
MONDO:0008998	Cockayne syndrome type 3	oboInOwl:hasDbXref	Orphanet:90324	Cockayne syndrome type 3	semapv:ManualMappingCuration
MONDO:0008999	Cohen syndrome	oboInOwl:hasDbXref	Orphanet:193	Cohen syndrome	semapv:ManualMappingCuration
MONDO:0009000	familial reactive perforating collagenosis	oboInOwl:hasDbXref	Orphanet:79147	Familial reactive perforating collagenosis	semapv:ManualMappingCuration
MONDO:0009001	macular coloboma-cleft palate-hallux valgus syndrome	oboInOwl:hasDbXref	Orphanet:91494	Macular coloboma-cleft palate-hallux valgus syndrome	semapv:ManualMappingCuration
MONDO:0009007	Jalili syndrome	oboInOwl:hasDbXref	Orphanet:1873	Jalili syndrome	semapv:ManualMappingCuration
MONDO:0009008	heart defect - tongue hamartoma - polysyndactyly syndrome	oboInOwl:hasDbXref	Orphanet:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	semapv:ManualMappingCuration
MONDO:0009009	hypoplasminogenemia	oboInOwl:hasDbXref	Orphanet:722	Hypoplasminogenemia	semapv:ManualMappingCuration
MONDO:0009009	hypoplasminogenemia	oboInOwl:hasDbXref	Orphanet:97231	Ligneous conjunctivitis	semapv:ManualMappingCuration
MONDO:0009010	aortic arch interruption	oboInOwl:hasDbXref	Orphanet:2299	Aortic arch interruption	semapv:ManualMappingCuration
MONDO:0009012	multiple pterygium-malignant hyperthermia syndrome	oboInOwl:hasDbXref	Orphanet:2215	Multiple pterygium-malignant hyperthermia syndrome	semapv:ManualMappingCuration
MONDO:0009015	corneal dystrophy-perceptive deafness syndrome	oboInOwl:hasDbXref	Orphanet:1490	Corneal dystrophy-perceptive deafness syndrome	semapv:ManualMappingCuration
MONDO:0009018	central cloudy dystrophy of François	oboInOwl:hasDbXref	Orphanet:98972	Central cloudy dystrophy of François	semapv:ManualMappingCuration
MONDO:0009019	congenital hereditary endothelial dystrophy of cornea	oboInOwl:hasDbXref	Orphanet:293603	Congenital hereditary endothelial dystrophy type II	semapv:ManualMappingCuration
MONDO:0009020	macular corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98969	Macular corneal dystrophy	semapv:ManualMappingCuration
MONDO:0009021	Toriello-Carey syndrome	oboInOwl:hasDbXref	Orphanet:3338	Toriello-Carey syndrome	semapv:ManualMappingCuration
MONDO:0009022	corpus callosum, agenesis of	oboInOwl:hasDbXref	Orphanet:200	Isolated corpus callosum agenesis	semapv:ManualMappingCuration
MONDO:0009024	cortical blindness-intellectual disability-polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:1389	Cortical blindness-intellectual disability-polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009025	apparent mineralocorticoid excess	oboInOwl:hasDbXref	Orphanet:320	Apparent mineralocorticoid excess	semapv:ManualMappingCuration
MONDO:0009026	Costello syndrome	oboInOwl:hasDbXref	Orphanet:3071	Costello syndrome	semapv:ManualMappingCuration
MONDO:0009028	Crane-Heise syndrome	oboInOwl:hasDbXref	Orphanet:1512	Crane-Heise syndrome	semapv:ManualMappingCuration
MONDO:0009031	craniodiaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:1513	Craniodiaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0009032	cranioectodermal dysplasia	oboInOwl:hasDbXref	Orphanet:1515	Cranioectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0009033	temtamy syndrome	oboInOwl:hasDbXref	Orphanet:1777	Temtamy syndrome	semapv:ManualMappingCuration
MONDO:0009034	craniofacial dyssynostosis	oboInOwl:hasDbXref	Orphanet:1516	Non-syndromic bilambdoid and sagittal craniosynostosis	semapv:ManualMappingCuration
MONDO:0009036	cardiocranial syndrome, Pfeiffer type	oboInOwl:hasDbXref	Orphanet:2872	Cardiocranial syndrome, Pfeiffer type	semapv:ManualMappingCuration
MONDO:0009038	craniosynostosis-fibular aplasia syndrome	oboInOwl:hasDbXref	Orphanet:1533	OBSOLETE: Craniosynostosis-fibular aplasia syndrome	semapv:ManualMappingCuration
MONDO:0009039	Baller-Gerold syndrome	oboInOwl:hasDbXref	Orphanet:1225	Baller-Gerold syndrome	semapv:ManualMappingCuration
MONDO:0009042	craniotelencephalic dysplasia	oboInOwl:hasDbXref	Orphanet:1528	Craniotelencephalic dysplasia	semapv:ManualMappingCuration
MONDO:0009043	generalized resistance to thyroid hormone	oboInOwl:hasDbXref	Orphanet:3221	Generalized resistance to thyroid hormone	semapv:ManualMappingCuration
MONDO:0009044	Crigler-Najjar syndrome	oboInOwl:hasDbXref	Orphanet:205	Crigler-Najjar syndrome	semapv:ManualMappingCuration
MONDO:0009045	cataract-nephropathy-encephalopathy syndrome	oboInOwl:hasDbXref	Orphanet:1380	Cataract-nephropathy-encephalopathy syndrome	semapv:ManualMappingCuration
MONDO:0009046	Fraser syndrome	oboInOwl:hasDbXref	Orphanet:2052	Fraser syndrome	semapv:ManualMappingCuration
MONDO:0009049	Cushing syndrome due to macronodular adrenal hyperplasia	oboInOwl:hasDbXref	Orphanet:189427	Cushing syndrome due to bilateral macronodular adrenocortical disease	semapv:ManualMappingCuration
MONDO:0009050	Cushing disease due to pituitary adenoma	oboInOwl:hasDbXref	Orphanet:96253	Cushing disease	semapv:ManualMappingCuration
MONDO:0009051	cutaneous photosensitivity-lethal colitis syndrome	oboInOwl:hasDbXref	Orphanet:2881	Cutaneous photosensitivity-lethal colitis syndrome	semapv:ManualMappingCuration
MONDO:0009053	ALDH18A1-related de Barsy syndrome	oboInOwl:hasDbXref	Orphanet:35664	ALDH18A1-related De Barsy syndrome	semapv:ManualMappingCuration
MONDO:0009054	autosomal recessive cutis laxa type 2, classic type	oboInOwl:hasDbXref	Orphanet:357074	Autosomal recessive cutis laxa type 2, classic type	semapv:ManualMappingCuration
MONDO:0009055	cutis marmorata telangiectatica congenita	oboInOwl:hasDbXref	Orphanet:1556	Cutis marmorata telangiectatica congenita	semapv:ManualMappingCuration
MONDO:0009056	cutis verticis gyrata and intellectual disability	oboInOwl:hasDbXref	Orphanet:1557	Cutis verticis gyrata-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0009058	cystathioninuria	oboInOwl:hasDbXref	Orphanet:212	Cystathioninuria	semapv:ManualMappingCuration
MONDO:0009061	cystic fibrosis	oboInOwl:hasDbXref	Orphanet:586	Cystic fibrosis	semapv:ManualMappingCuration
MONDO:0009062	cystic fibrosis-gastritis-megaloblastic anemia syndrome	oboInOwl:hasDbXref	Orphanet:2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome	semapv:ManualMappingCuration
MONDO:0009063	ventriculomegaly-cystic kidney disease	oboInOwl:hasDbXref	Orphanet:443988	Ventriculomegaly-cystic kidney disease	semapv:ManualMappingCuration
MONDO:0009064	ocular cystinosis	oboInOwl:hasDbXref	Orphanet:411641	Ocular cystinosis	semapv:ManualMappingCuration
MONDO:0009066	juvenile nephropathic cystinosis	oboInOwl:hasDbXref	Orphanet:411634	Juvenile nephropathic cystinosis	semapv:ManualMappingCuration
MONDO:0009067	cystinuria	oboInOwl:hasDbXref	Orphanet:214	Cystinuria	semapv:ManualMappingCuration
MONDO:0009069	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	oboInOwl:hasDbXref	Orphanet:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	semapv:ManualMappingCuration
MONDO:0009070	D-glyceric aciduria	oboInOwl:hasDbXref	Orphanet:941	D-glyceric aciduria	semapv:ManualMappingCuration
MONDO:0009071	hereditary renal hypouricemia	oboInOwl:hasDbXref	Orphanet:94088	Hereditary renal hypouricemia	semapv:ManualMappingCuration
MONDO:0009072	Dandy-Walker syndrome	oboInOwl:hasDbXref	Orphanet:217	Isolated Dandy-Walker malformation	semapv:ManualMappingCuration
MONDO:0009074	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	oboInOwl:hasDbXref	Orphanet:1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	semapv:ManualMappingCuration
MONDO:0009075	Dandy-Walker malformation-postaxial polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:1566	Dandy-Walker malformation-postaxial polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009079	DOORS syndrome	oboInOwl:hasDbXref	Orphanet:79500	DOORS syndrome	semapv:ManualMappingCuration
MONDO:0009080	split hand-foot malformation 1 with sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:71271	Split hand-split foot-deafness syndrome	semapv:ManualMappingCuration
MONDO:0009082	high myopia-sensorineural deafness syndrome	oboInOwl:hasDbXref	Orphanet:363396	High myopia-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0009083	conductive deafness-malformed external ear syndrome	oboInOwl:hasDbXref	Orphanet:3216	Conductive deafness-malformed external ear syndrome	semapv:ManualMappingCuration
MONDO:0009084	conductive deafness-ptosis-skeletal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:3236	Conductive deafness-ptosis-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009085	deafness-vitiligo-achalasia syndrome	oboInOwl:hasDbXref	Orphanet:3239	Deafness-vitiligo-achalasia syndrome	semapv:ManualMappingCuration
MONDO:0009086	deafness-small bowel diverticulosis-neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:3217	Deafness-small bowel diverticulosis-neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0009089	deafness-oligodontia syndrome	oboInOwl:hasDbXref	Orphanet:3230	Deafness-oligodontia syndrome	semapv:ManualMappingCuration
MONDO:0009091	non-acquired combined pituitary hormone deficiency with spine abnormalities	oboInOwl:hasDbXref	Orphanet:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0009092	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	oboInOwl:hasDbXref	Orphanet:2770	Nasu-Hakola disease	semapv:ManualMappingCuration
MONDO:0009093	dermatoleukodystrophy	oboInOwl:hasDbXref	Orphanet:1659	Dermatoleukodystrophy	semapv:ManualMappingCuration
MONDO:0009094	dermochondrocorneal dystrophy	oboInOwl:hasDbXref	Orphanet:79149	Dermochondrocorneal dystrophy	semapv:ManualMappingCuration
MONDO:0009095	dermatoosteolysis, Kirghizian type	oboInOwl:hasDbXref	Orphanet:1657	Dermatoosteolysis, Kirghizian type	semapv:ManualMappingCuration
MONDO:0009097	persistent hyperplastic primary vitreous, autosomal recessive	oboInOwl:hasDbXref	Orphanet:300337	OBSOLETE: Congenital blindness due to retinal non-attachment	semapv:ManualMappingCuration
MONDO:0009099	nephrogenic diabetes insipidus-intracranial calcification syndrome	oboInOwl:hasDbXref	Orphanet:3145	Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0009104	Donnai-Barrow syndrome	oboInOwl:hasDbXref	Orphanet:2143	Donnai-Barrow syndrome	semapv:ManualMappingCuration
MONDO:0009105	trichohepatoenteric syndrome	oboInOwl:hasDbXref	Orphanet:84064	Syndromic diarrhea	semapv:ManualMappingCuration
MONDO:0009106	diastematomyelia	oboInOwl:hasDbXref	Orphanet:1671	Split cord malformation type I	semapv:ManualMappingCuration
MONDO:0009107	diastrophic dysplasia	oboInOwl:hasDbXref	Orphanet:628	Diastrophic dysplasia	semapv:ManualMappingCuration
MONDO:0009108	hyperdibasic aminoaciduria type 1	oboInOwl:hasDbXref	Orphanet:1032	OBSOLETE: Hyperdibasic aminoaciduria type 1	semapv:ManualMappingCuration
MONDO:0009109	lysinuric protein intolerance	oboInOwl:hasDbXref	Orphanet:470	Lysinuric protein intolerance	semapv:ManualMappingCuration
MONDO:0009110	dicarboxylic aminoaciduria	oboInOwl:hasDbXref	Orphanet:2195	Dicarboxylic aminoaciduria	semapv:ManualMappingCuration
MONDO:0009111	dihydropyrimidinuria	oboInOwl:hasDbXref	Orphanet:38874	Dihydropyrimidinuria	semapv:ManualMappingCuration
MONDO:0009112	rhizomelic chondrodysplasia punctata type 2	oboInOwl:hasDbXref	Orphanet:309796	Rhizomelic chondrodysplasia punctata type 2	semapv:ManualMappingCuration
MONDO:0009113	hemolytic anemia due to diphosphoglycerate mutase deficiency	oboInOwl:hasDbXref	Orphanet:714	Hemolytic anemia due to diphosphoglycerate mutase deficiency	semapv:ManualMappingCuration
MONDO:0009114	congenital sucrase-isomaltase deficiency	oboInOwl:hasDbXref	Orphanet:35122	Congenital sucrase-isomaltase deficiency	semapv:ManualMappingCuration
MONDO:0009115	congenital lactase deficiency	oboInOwl:hasDbXref	Orphanet:53690	Congenital lactase deficiency	semapv:ManualMappingCuration
MONDO:0009120	diverticulosis of bowel, hernia, and retinal detachment	oboInOwl:hasDbXref	Orphanet:2464	Marfanoid syndrome, De Silva type	semapv:ManualMappingCuration
MONDO:0009121	von Voss-Cherstvoy syndrome	oboInOwl:hasDbXref	Orphanet:3439	Von Voss-Cherstvoy syndrome	semapv:ManualMappingCuration
MONDO:0009123	orthostatic hypotension 1	oboInOwl:hasDbXref	Orphanet:230	Dopamine beta-hydroxylase deficiency	semapv:ManualMappingCuration
MONDO:0009124	Dubowitz syndrome	oboInOwl:hasDbXref	Orphanet:235	Dubowitz syndrome	semapv:ManualMappingCuration
MONDO:0009126	duodenal atresia	oboInOwl:hasDbXref	Orphanet:1203	Duodenal atresia	semapv:ManualMappingCuration
MONDO:0009128	dwarfism, intellectual disability, and eye abnormality	oboInOwl:hasDbXref	Orphanet:2650	OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome	semapv:ManualMappingCuration
MONDO:0009130	Dyggve-Melchior-Clausen disease	oboInOwl:hasDbXref	Orphanet:239	Dyggve-Melchior-Clausen disease	semapv:ManualMappingCuration
MONDO:0009131	Riley-Day syndrome	oboInOwl:hasDbXref	Orphanet:1764	Familial dysautonomia	semapv:ManualMappingCuration
MONDO:0009133	cerebellar ataxia, intellectual disability, and dysequilibrium	oboInOwl:hasDbXref	Orphanet:1766	Dysequilibrium syndrome	semapv:ManualMappingCuration
MONDO:0009134	congenital dyserythropoietic anemia type 2	oboInOwl:hasDbXref	Orphanet:98873	Congenital dyserythropoietic anemia type II	semapv:ManualMappingCuration
MONDO:0009138	dysosteosclerosis	oboInOwl:hasDbXref	Orphanet:1782	Dysosteosclerosis	semapv:ManualMappingCuration
MONDO:0009139	dyssegmental dysplasia, Rolland-Desbuquois type	oboInOwl:hasDbXref	Orphanet:156731	Dyssegmental dysplasia, Rolland-Desbuquois type	semapv:ManualMappingCuration
MONDO:0009140	Silverman-Handmaker type dyssegmental dysplasia	oboInOwl:hasDbXref	Orphanet:1865	Dyssegmental dysplasia, Silverman-Handmaker type	semapv:ManualMappingCuration
MONDO:0009141	torsion dystonia 2	oboInOwl:hasDbXref	Orphanet:99657	Primary dystonia, DYT2 type	semapv:ManualMappingCuration
MONDO:0009144	Ebstein anomaly	oboInOwl:hasDbXref	Orphanet:1880	Ebstein malformation of the tricuspid valve	semapv:ManualMappingCuration
MONDO:0009145	SchC6pf-Schulz-Passarge syndrome	oboInOwl:hasDbXref	Orphanet:50944	Schöpf-Schulz-Passarge syndrome	semapv:ManualMappingCuration
MONDO:0009146	ectodermal dysplasia-sensorineural deafness syndrome	oboInOwl:hasDbXref	Orphanet:1883	Ectodermal dysplasia-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0009148	Rosselli-Gulienetti syndrome	oboInOwl:hasDbXref	Orphanet:90339	OBSOLETE: Rosselli-Gulienetti syndrome	semapv:ManualMappingCuration
MONDO:0009149	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	oboInOwl:hasDbXref	Orphanet:1812	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	semapv:ManualMappingCuration
MONDO:0009150	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	oboInOwl:hasDbXref	Orphanet:1882	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	semapv:ManualMappingCuration
MONDO:0009151	cleft lip/palate-ectodermal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:320317	OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0009151	cleft lip/palate-ectodermal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:3253	Cleft lip/palate-ectodermal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0009155	EEM syndrome	oboInOwl:hasDbXref	Orphanet:1897	EEM syndrome	semapv:ManualMappingCuration
MONDO:0009156	ectrodactyly-polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:1892	Ectrodactyly-polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009158	Ehlers-Danlos syndrome, fibronectinemic type	oboInOwl:hasDbXref	Orphanet:75501	OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type	semapv:ManualMappingCuration
MONDO:0009159	Ehlers-Danlos syndrome, cardiac valvular type	oboInOwl:hasDbXref	Orphanet:230851	Cardiac-valvular Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0009161	Ehlers-Danlos syndrome, dermatosparaxis type	oboInOwl:hasDbXref	Orphanet:1901	Dermatosparaxis Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0009162	Ellis-van Creveld syndrome	oboInOwl:hasDbXref	Orphanet:289	Ellis Van Creveld syndrome	semapv:ManualMappingCuration
MONDO:0009166	pontocerebellar hypoplasia type 4	oboInOwl:hasDbXref	Orphanet:166063	Pontocerebellar hypoplasia type 4	semapv:ManualMappingCuration
MONDO:0009167	Bonnemann-Meinecke-Reich syndrome	oboInOwl:hasDbXref	Orphanet:1261	Bonnemann-Meinecke-Reich syndrome	semapv:ManualMappingCuration
MONDO:0009168	Fowler syndrome	oboInOwl:hasDbXref	Orphanet:221126	Fowler vasculopathy	semapv:ManualMappingCuration
MONDO:0009169	endocardial fibroelastosis	oboInOwl:hasDbXref	Orphanet:2022	Endocardial fibroelastosis	semapv:ManualMappingCuration
MONDO:0009173	congenital enteropathy due to enteropeptidase deficiency	oboInOwl:hasDbXref	Orphanet:168601	Congenital enteropathy due to enteropeptidase deficiency	semapv:ManualMappingCuration
MONDO:0009174	protein-losing enteropathy	oboInOwl:hasDbXref	Orphanet:566175	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	semapv:ManualMappingCuration
MONDO:0009175	eosinophilic fasciitis	oboInOwl:hasDbXref	Orphanet:3165	Eosinophilic fasciitis	semapv:ManualMappingCuration
MONDO:0009176	epidermodysplasia verruciformis	oboInOwl:hasDbXref	Orphanet:302	Inherited epidermodysplasia verruciformis	semapv:ManualMappingCuration
MONDO:0009177	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:231556	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0009179	recessive dystrophic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	semapv:ManualMappingCuration
MONDO:0009180	junctional epidermolysis bullosa, non-Herlitz type	oboInOwl:hasDbXref	Orphanet:89840	OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type	semapv:ManualMappingCuration
MONDO:0009181	epidermolysis bullosa simplex 5B, with muscular dystrophy	oboInOwl:hasDbXref	Orphanet:257	Epidermolysis bullosa simplex with muscular dystrophy	semapv:ManualMappingCuration
MONDO:0009182	junctional epidermolysis bullosa Herlitz type	oboInOwl:hasDbXref	Orphanet:79404	Severe generalized junctional epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0009183	junctional epidermolysis bullosa with pyloric atresia	oboInOwl:hasDbXref	Orphanet:79403	Junctional epidermolysis bullosa with pyloric atresia	semapv:ManualMappingCuration
MONDO:0009185	amelocerebrohypohidrotic syndrome	oboInOwl:hasDbXref	Orphanet:1946	Amelocerebrohypohidrotic syndrome	semapv:ManualMappingCuration
MONDO:0009187	celiac disease-epilepsy-cerebral calcification syndrome	oboInOwl:hasDbXref	Orphanet:1459	Celiac disease-epilepsy-cerebral calcification syndrome	semapv:ManualMappingCuration
MONDO:0009188	epilepsy-telangiectasia syndrome	oboInOwl:hasDbXref	Orphanet:1951	Epilepsy-telangiectasia syndrome	semapv:ManualMappingCuration
MONDO:0009189	multiple epiphyseal dysplasia type 4	oboInOwl:hasDbXref	Orphanet:93307	Multiple epiphyseal dysplasia type 4	semapv:ManualMappingCuration
MONDO:0009191	Lowry-Wood syndrome	oboInOwl:hasDbXref	Orphanet:1824	Lowry-Wood syndrome	semapv:ManualMappingCuration
MONDO:0009192	Wolcott-Rallison syndrome	oboInOwl:hasDbXref	Orphanet:1667	Wolcott-Rallison syndrome	semapv:ManualMappingCuration
MONDO:0009194	immunodeficiency 32B	oboInOwl:hasDbXref	Orphanet:2566	Chronic Epstein-Barr virus infection syndrome	semapv:ManualMappingCuration
MONDO:0009196	ermine phenotype	oboInOwl:hasDbXref	Orphanet:999	Ermine phenotype	semapv:ManualMappingCuration
MONDO:0009197	transient erythroblastopenia of childhood	oboInOwl:hasDbXref	Orphanet:98871	Transient erythroblastopenia of childhood	semapv:ManualMappingCuration
MONDO:0009198	congenital lethal erythroderma	oboInOwl:hasDbXref	Orphanet:1954	Congenital lethal erythroderma	semapv:ManualMappingCuration
MONDO:0009200	eyebrow duplication-syndactyly syndrome	oboInOwl:hasDbXref	Orphanet:3172	Eyebrow duplication-syndactyly syndrome	semapv:ManualMappingCuration
MONDO:0009202	Thakker-Donnai syndrome	oboInOwl:hasDbXref	Orphanet:1780	Thakker-Donnai syndrome	semapv:ManualMappingCuration
MONDO:0009203	focal facial dermal dysplasia type III	oboInOwl:hasDbXref	Orphanet:1807	Focal facial dermal dysplasia type III	semapv:ManualMappingCuration
MONDO:0009204	lethal faciocardiomelic dysplasia	oboInOwl:hasDbXref	Orphanet:1972	Lethal faciocardiomelic dysplasia	semapv:ManualMappingCuration
MONDO:0009205	faciocardiorenal syndrome	oboInOwl:hasDbXref	Orphanet:1973	Faciocardiorenal syndrome	semapv:ManualMappingCuration
MONDO:0009209	autosomal recessive faciodigitogenital syndrome	oboInOwl:hasDbXref	Orphanet:1974	Autosomal recessive faciodigitogenital syndrome	semapv:ManualMappingCuration
MONDO:0009210	congenital factor V deficiency	oboInOwl:hasDbXref	Orphanet:326	Congenital factor V deficiency	semapv:ManualMappingCuration
MONDO:0009211	congenital factor VII deficiency	oboInOwl:hasDbXref	Orphanet:327	Congenital factor VII deficiency	semapv:ManualMappingCuration
MONDO:0009212	congenital factor X deficiency	oboInOwl:hasDbXref	Orphanet:328	Congenital factor X deficiency	semapv:ManualMappingCuration
MONDO:0009216	glycogen storage disease due to GLUT2 deficiency	oboInOwl:hasDbXref	Orphanet:2088	Fanconi-Bickel syndrome	semapv:ManualMappingCuration
MONDO:0009218	Farber lipogranulomatosis	oboInOwl:hasDbXref	Orphanet:333	Farber disease	semapv:ManualMappingCuration
MONDO:0009221	femur-fibula-ulna complex	oboInOwl:hasDbXref	Orphanet:2019	Femur-fibula-ulna complex	semapv:ManualMappingCuration
MONDO:0009222	Gollop-Wolfgang complex	oboInOwl:hasDbXref	Orphanet:1986	Gollop-Wolfgang complex	semapv:ManualMappingCuration
MONDO:0009223	hypogonadotropic hypogonadism 23 with or without anosmia	oboInOwl:hasDbXref	Orphanet:325448	Leydig cell hypoplasia due to LHB deficiency	semapv:ManualMappingCuration
MONDO:0009224	fetal iodine syndrome	oboInOwl:hasDbXref	Orphanet:1910	Fetal iodine syndrome	semapv:ManualMappingCuration
MONDO:0009228	gingival fibromatosis-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:2025	Gingival fibromatosis-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0009229	hyaline fibromatosis syndrome	oboInOwl:hasDbXref	Orphanet:498474	Hyaline fibromatosis syndrome	semapv:ManualMappingCuration
MONDO:0009231	acromesomelic dysplasia 2B	oboInOwl:hasDbXref	Orphanet:2639	Fibular aplasia-complex brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009232	Fuhrmann syndrome	oboInOwl:hasDbXref	Orphanet:2854	Fuhrmann syndrome	semapv:ManualMappingCuration
MONDO:0009233	Fibulo-ulnar hypoplasia-renal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2256	Fibulo-ulnar hypoplasia-renal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009234	congenital high-molecular-weight kininogen deficiency	oboInOwl:hasDbXref	Orphanet:483	Congenital high-molecular-weight kininogen deficiency	semapv:ManualMappingCuration
MONDO:0009235	familial benign flecked retina	oboInOwl:hasDbXref	Orphanet:363989	Familial benign flecked retina	semapv:ManualMappingCuration
MONDO:0009236	Kandori fleck retina	oboInOwl:hasDbXref	Orphanet:99179	Kandori fleck retina	semapv:ManualMappingCuration
MONDO:0009238	hereditary folate malabsorption	oboInOwl:hasDbXref	Orphanet:90045	Hereditary folate malabsorption	semapv:ManualMappingCuration
MONDO:0009239	hypogonadotropic hypogonadism 24 without anosmia	oboInOwl:hasDbXref	Orphanet:52901	Isolated follicle stimulating hormone deficiency	semapv:ManualMappingCuration
MONDO:0009240	formiminoglutamic aciduria	oboInOwl:hasDbXref	Orphanet:51208	Formiminoglutamic aciduria	semapv:ManualMappingCuration
MONDO:0009241	fountain syndrome	oboInOwl:hasDbXref	Orphanet:3219	Fountain syndrome	semapv:ManualMappingCuration
MONDO:0009242	brittle cornea syndrome	oboInOwl:hasDbXref	Orphanet:90354	Brittle cornea syndrome	semapv:ManualMappingCuration
MONDO:0009243	Fraser-like syndrome	oboInOwl:hasDbXref	Orphanet:2051	Fraser-like syndrome	semapv:ManualMappingCuration
MONDO:0009247	frontofacionasal dysplasia	oboInOwl:hasDbXref	Orphanet:1791	Frontofacionasal dysplasia	semapv:ManualMappingCuration
MONDO:0009249	hereditary fructose intolerance	oboInOwl:hasDbXref	Orphanet:469	Hereditary fructose intolerance	semapv:ManualMappingCuration
MONDO:0009251	fructose-1,6-bisphosphatase deficiency	oboInOwl:hasDbXref	Orphanet:348	Fructose-1,6-bisphosphatase deficiency	semapv:ManualMappingCuration
MONDO:0009252	essential fructosuria	oboInOwl:hasDbXref	Orphanet:2056	Essential fructosuria	semapv:ManualMappingCuration
MONDO:0009253	Fryns syndrome	oboInOwl:hasDbXref	Orphanet:2059	Fryns syndrome	semapv:ManualMappingCuration
MONDO:0009254	fucosidosis	oboInOwl:hasDbXref	Orphanet:349	Fucosidosis	semapv:ManualMappingCuration
MONDO:0009255	galactokinase deficiency	oboInOwl:hasDbXref	Orphanet:79237	Galactokinase deficiency	semapv:ManualMappingCuration
MONDO:0009257	galactose epimerase deficiency	oboInOwl:hasDbXref	Orphanet:79238	Galactose epimerase deficiency	semapv:ManualMappingCuration
MONDO:0009258	classic galactosemia	oboInOwl:hasDbXref	Orphanet:79239	Classic galactosemia	semapv:ManualMappingCuration
MONDO:0009259	gamma-glutamylcysteine synthetase deficiency	oboInOwl:hasDbXref	Orphanet:33574	Glutamate-cysteine ligase deficiency	semapv:ManualMappingCuration
MONDO:0009260	GM1 gangliosidosis type 1	oboInOwl:hasDbXref	Orphanet:79255	GM1 gangliosidosis type 1	semapv:ManualMappingCuration
MONDO:0009261	GM1 gangliosidosis type 2	oboInOwl:hasDbXref	Orphanet:79256	GM1 gangliosidosis type 2	semapv:ManualMappingCuration
MONDO:0009262	GM1 gangliosidosis type 3	oboInOwl:hasDbXref	Orphanet:79257	GM1 gangliosidosis type 3	semapv:ManualMappingCuration
MONDO:0009263	GAPO syndrome	oboInOwl:hasDbXref	Orphanet:2067	GAPO syndrome	semapv:ManualMappingCuration
MONDO:0009264	gastroschisis	oboInOwl:hasDbXref	Orphanet:2368	Gastroschisis	semapv:ManualMappingCuration
MONDO:0009265	Gaucher disease type I	oboInOwl:hasDbXref	Orphanet:77259	Gaucher disease type 1	semapv:ManualMappingCuration
MONDO:0009266	Gaucher disease type II	oboInOwl:hasDbXref	Orphanet:77260	Gaucher disease type 2	semapv:ManualMappingCuration
MONDO:0009267	Gaucher disease type III	oboInOwl:hasDbXref	Orphanet:77261	Gaucher disease type 3	semapv:ManualMappingCuration
MONDO:0009268	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	oboInOwl:hasDbXref	Orphanet:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	semapv:ManualMappingCuration
MONDO:0009270	genito-palato-cardiac syndrome	oboInOwl:hasDbXref	Orphanet:2075	Genitopalatocardiac syndrome	semapv:ManualMappingCuration
MONDO:0009271	geroderma osteodysplastica	oboInOwl:hasDbXref	Orphanet:2078	Geroderma osteodysplastica	semapv:ManualMappingCuration
MONDO:0009272	German syndrome	oboInOwl:hasDbXref	Orphanet:2077	German syndrome	semapv:ManualMappingCuration
MONDO:0009274	ghosal hematodiaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:1802	Ghosal hematodiaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0009275	neonatal hemochromatosis	oboInOwl:hasDbXref	Orphanet:446	Neonatal hemochromatosis	semapv:ManualMappingCuration
MONDO:0009276	Bernard-Soulier syndrome	oboInOwl:hasDbXref	Orphanet:274	Bernard-Soulier syndrome	semapv:ManualMappingCuration
MONDO:0009277	glaucoma 3A	oboInOwl:hasDbXref	Orphanet:98976	Congenital glaucoma	semapv:ManualMappingCuration
MONDO:0009279	triple-A syndrome	oboInOwl:hasDbXref	Orphanet:869	Triple A syndrome	semapv:ManualMappingCuration
MONDO:0009281	glutaryl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:25	Glutaryl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0009282	multiple acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:26791	Multiple acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0009283	glutaric acidemia type 3	oboInOwl:hasDbXref	Orphanet:35706	Glutaric acidemia type 3	semapv:ManualMappingCuration
MONDO:0009284	glutathione synthetase deficiency without 5-oxoprolinuria	oboInOwl:hasDbXref	Orphanet:289849	Glutathione synthetase deficiency without 5-oxoprolinuria	semapv:ManualMappingCuration
MONDO:0009285	gamma-glutamyl transpeptidase deficiency	oboInOwl:hasDbXref	Orphanet:33573	Gamma-glutamyl transpeptidase deficiency	semapv:ManualMappingCuration
MONDO:0009287	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	oboInOwl:hasDbXref	Orphanet:79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	semapv:ManualMappingCuration
MONDO:0009288	glycogen storage disease Ib	oboInOwl:hasDbXref	Orphanet:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	semapv:ManualMappingCuration
MONDO:0009290	glycogen storage disease II	oboInOwl:hasDbXref	Orphanet:365	Glycogen storage disease due to acid maltase deficiency	semapv:ManualMappingCuration
MONDO:0009291	glycogen storage disease III	oboInOwl:hasDbXref	Orphanet:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	semapv:ManualMappingCuration
MONDO:0009292	glycogen storage disease due to glycogen branching enzyme deficiency	oboInOwl:hasDbXref	Orphanet:367	Glycogen storage disease due to glycogen branching enzyme deficiency	semapv:ManualMappingCuration
MONDO:0009293	glycogen storage disease V	oboInOwl:hasDbXref	Orphanet:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	semapv:ManualMappingCuration
MONDO:0009294	glycogen storage disease VI	oboInOwl:hasDbXref	Orphanet:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	semapv:ManualMappingCuration
MONDO:0009295	glycogen storage disease VII	oboInOwl:hasDbXref	Orphanet:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	semapv:ManualMappingCuration
MONDO:0009297	familial renal glucosuria	oboInOwl:hasDbXref	Orphanet:69076	Familial renal glucosuria	semapv:ManualMappingCuration
MONDO:0009299	46 XX gonadal dysgenesis	oboInOwl:hasDbXref	Orphanet:243	46,XX gonadal dysgenesis	semapv:ManualMappingCuration
MONDO:0009300	Perrault syndrome 1	oboInOwl:hasDbXref	Orphanet:642945	Perrault syndrome type 1	semapv:ManualMappingCuration
MONDO:0009302	XY type gonadal dysgenesis-associated anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1770	XY type gonadal dysgenesis-associated anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009303	anti-glomerular basement membrane disease	oboInOwl:hasDbXref	Orphanet:375	Anti-glomerular basement membrane disease	semapv:ManualMappingCuration
MONDO:0009306	combined immunodeficiency with skin granulomas	oboInOwl:hasDbXref	Orphanet:157949	Combined immunodeficiency with granulomatosis	semapv:ManualMappingCuration
MONDO:0009312	lipodystrophy due to peptidic growth factors deficiency	oboInOwl:hasDbXref	Orphanet:1979	Lipodystrophy due to peptidic growth factors deficiency	semapv:ManualMappingCuration
MONDO:0009313	Grubben-de Cock-Borghgraef syndrome	oboInOwl:hasDbXref	Orphanet:2101	Grubben-de Cock-Borghgraef syndrome	semapv:ManualMappingCuration
MONDO:0009315	congenital factor XII deficiency	oboInOwl:hasDbXref	Orphanet:330	Congenital factor XII deficiency	semapv:ManualMappingCuration
MONDO:0009317	obsolete nonphotosensitive trichothiodystrophy	oboInOwl:hasDbXref	Orphanet:1245	BIDS syndrome	semapv:ManualMappingCuration
MONDO:0009318	Hallermann-Streiff syndrome	oboInOwl:hasDbXref	Orphanet:2108	Hallermann-Streiff syndrome	semapv:ManualMappingCuration
MONDO:0009319	pantothenate kinase-associated neurodegeneration	oboInOwl:hasDbXref	Orphanet:157850	Pantothenate kinase-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0009320	Hall-Riggs syndrome	oboInOwl:hasDbXref	Orphanet:2107	Hall-Riggs syndrome	semapv:ManualMappingCuration
MONDO:0009321	hallux varus-preaxial polysyndactyly syndrome	oboInOwl:hasDbXref	Orphanet:2110	Hallux varus-preaxial polysyndactyly syndrome	semapv:ManualMappingCuration
MONDO:0009324	Hartnup disease	oboInOwl:hasDbXref	Orphanet:2116	Hartnup disease	semapv:ManualMappingCuration
MONDO:0009326	congenital heart block	oboInOwl:hasDbXref	Orphanet:60041	Congenital heart block	semapv:ManualMappingCuration
MONDO:0009329	pulmonary venoocclusive disease 2	oboInOwl:hasDbXref	Orphanet:199241	Pulmonary capillary hemangiomatosis	semapv:ManualMappingCuration
MONDO:0009331	isolated hemihyperplasia	oboInOwl:hasDbXref	Orphanet:2128	Isolated hemihyperplasia	semapv:ManualMappingCuration
MONDO:0009333	mullerian derivatives-lymphangiectasia-polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:1655	Müllerian derivatives-lymphangiectasia-polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009338	hepatic veno-occlusive disease-immunodeficiency syndrome	oboInOwl:hasDbXref	Orphanet:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	semapv:ManualMappingCuration
MONDO:0009339	congenital bile acid synthesis defect 2	oboInOwl:hasDbXref	Orphanet:79303	Congenital bile acid synthesis defect type 2	semapv:ManualMappingCuration
MONDO:0009340	non-spherocytic hemolytic anemia due to hexokinase deficiency	oboInOwl:hasDbXref	Orphanet:90031	Non-spherocytic hemolytic anemia due to hexokinase deficiency	semapv:ManualMappingCuration
MONDO:0009341	Mowat-Wilson syndrome	oboInOwl:hasDbXref	Orphanet:2152	Mowat-Wilson syndrome	semapv:ManualMappingCuration
MONDO:0009342	Hirschsprung disease-hearing loss-polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:2155	Hirschsprung disease-deafness-polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009344	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:2153	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0009345	histidinemia	oboInOwl:hasDbXref	Orphanet:2157	Histidinemia	semapv:ManualMappingCuration
MONDO:0009346	histidinuria due to a renal tubular defect	oboInOwl:hasDbXref	Orphanet:2158	Histidinuria-renal tubular defect syndrome	semapv:ManualMappingCuration
MONDO:0009348	classic Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:391	Classic Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0009350	Holzgreve-Wagner-Rehder syndrome	oboInOwl:hasDbXref	Orphanet:2167	Holzgreve syndrome	semapv:ManualMappingCuration
MONDO:0009351	homocarnosinosis	oboInOwl:hasDbXref	Orphanet:2168	Homocarnosinosis	semapv:ManualMappingCuration
MONDO:0009352	classic homocystinuria	oboInOwl:hasDbXref	Orphanet:394	Homocystinuria due to cystathionine beta-synthase deficiency	semapv:ManualMappingCuration
MONDO:0009353	homocystinuria due to methylene tetrahydrofolate reductase deficiency	oboInOwl:hasDbXref	Orphanet:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	semapv:ManualMappingCuration
MONDO:0009354	methylcobalamin deficiency type cblE	oboInOwl:hasDbXref	Orphanet:2169	Methylcobalamin deficiency type cblE	semapv:ManualMappingCuration
MONDO:0009359	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	oboInOwl:hasDbXref	Orphanet:500135	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	semapv:ManualMappingCuration
MONDO:0009362	growth delay-hydrocephaly-lung hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:3035	Growth delay-hydrocephaly-lung hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0009363	hydrocephaly-tall stature-joint laxity syndrome	oboInOwl:hasDbXref	Orphanet:2181	Hydrocephaly-tall stature-joint laxity syndrome	semapv:ManualMappingCuration
MONDO:0009366	normal pressure hydrocephalus	oboInOwl:hasDbXref	Orphanet:314928	NON RARE IN EUROPE: Normal pressure hydrocephalus	semapv:ManualMappingCuration
MONDO:0009367	McKusick-Kaufman syndrome	oboInOwl:hasDbXref	Orphanet:2473	McKusick-Kaufman syndrome	semapv:ManualMappingCuration
MONDO:0009369	non-immune hydrops fetalis	oboInOwl:hasDbXref	Orphanet:363999	Non-immune hydrops fetalis	semapv:ManualMappingCuration
MONDO:0009370	L-2-hydroxyglutaric aciduria	oboInOwl:hasDbXref	Orphanet:79314	L-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration
MONDO:0009371	3-hydroxyisobutyric aciduria	oboInOwl:hasDbXref	Orphanet:939	3-hydroxyisobutyric aciduria	semapv:ManualMappingCuration
MONDO:0009372	encephalopathy due to hydroxykynureninuria	oboInOwl:hasDbXref	Orphanet:79155	Hydroxykynureninuria	semapv:ManualMappingCuration
MONDO:0009373	seizures-intellectual disability due to hydroxylysinuria syndrome	oboInOwl:hasDbXref	Orphanet:79156	Seizures-intellectual disability due to hydroxylysinuria syndrome	semapv:ManualMappingCuration
MONDO:0009376	carbamoyl phosphate synthetase I deficiency disease	oboInOwl:hasDbXref	Orphanet:147	Carbamoyl-phosphate synthetase 1 deficiency	semapv:ManualMappingCuration
MONDO:0009377	hyperammonemia due to N-acetylglutamate synthase deficiency	oboInOwl:hasDbXref	Orphanet:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	semapv:ManualMappingCuration
MONDO:0009378	hyper-beta-alaninemia	oboInOwl:hasDbXref	Orphanet:309147	Hyper-beta-alaninemia	semapv:ManualMappingCuration
MONDO:0009379	Rotor syndrome	oboInOwl:hasDbXref	Orphanet:3111	Rotor syndrome	semapv:ManualMappingCuration
MONDO:0009380	Dubin-Johnson syndrome	oboInOwl:hasDbXref	Orphanet:234	Dubin-Johnson syndrome	semapv:ManualMappingCuration
MONDO:0009383	transient familial neonatal hyperbilirubinemia	oboInOwl:hasDbXref	Orphanet:2312	Transient familial neonatal hyperbilirubinemia	semapv:ManualMappingCuration
MONDO:0009387	familial lipoprotein lipase deficiency	oboInOwl:hasDbXref	Orphanet:309015	Familial lipoprotein lipase deficiency	semapv:ManualMappingCuration
MONDO:0009388	hyperlysinemia	oboInOwl:hasDbXref	Orphanet:2203	Hyperlysinemia	semapv:ManualMappingCuration
MONDO:0009393	ornithine translocase deficiency	oboInOwl:hasDbXref	Orphanet:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	semapv:ManualMappingCuration
MONDO:0009394	juvenile Paget disease	oboInOwl:hasDbXref	Orphanet:2801	Juvenile Paget disease	semapv:ManualMappingCuration
MONDO:0009395	hyperostosis corticalis generalisata	oboInOwl:hasDbXref	Orphanet:3416	Hyperostosis corticalis generalisata	semapv:ManualMappingCuration
MONDO:0009397	neonatal severe primary hyperparathyroidism	oboInOwl:hasDbXref	Orphanet:417	Neonatal severe primary hyperparathyroidism	semapv:ManualMappingCuration
MONDO:0009400	hyperprolinemia type 1	oboInOwl:hasDbXref	Orphanet:419	Hyperprolinemia type 1	semapv:ManualMappingCuration
MONDO:0009401	hyperprolinemia type 2	oboInOwl:hasDbXref	Orphanet:79101	Hyperprolinemia type 2	semapv:ManualMappingCuration
MONDO:0009402	acrofrontofacionasal dysostosis 2	oboInOwl:hasDbXref	Orphanet:2211	Hypertelorism-hypospadias-polysyndactyly syndrome	semapv:ManualMappingCuration
MONDO:0009404	hypertelorism, microtia, facial clefting syndrome	oboInOwl:hasDbXref	Orphanet:2213	Hypertelorism-microtia-facial clefting syndrome	semapv:ManualMappingCuration
MONDO:0009405	cervical hypertrichosis-peripheral neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:2218	Cervical hypertrichosis-peripheral neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0009406	hypertrichotic osteochondrodysplasia Cantu type	oboInOwl:hasDbXref	Orphanet:1517	Cantú syndrome	semapv:ManualMappingCuration
MONDO:0009411	autoimmune polyendocrine syndrome type 1	oboInOwl:hasDbXref	Orphanet:3453	Autoimmune polyendocrinopathy type 1	semapv:ManualMappingCuration
MONDO:0009414	glycogen storage disorder due to hepatic glycogen synthase deficiency	oboInOwl:hasDbXref	Orphanet:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	semapv:ManualMappingCuration
MONDO:0009416	hypoinsulinemic hypoglycemia and body hemihypertrophy	oboInOwl:hasDbXref	Orphanet:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	semapv:ManualMappingCuration
MONDO:0009417	hypergonadotropic hypogonadism-cataract syndrome	oboInOwl:hasDbXref	Orphanet:2410	Hypergonadotropic hypogonadism-cataract syndrome	semapv:ManualMappingCuration
MONDO:0009419	Woodhouse-Sakati syndrome	oboInOwl:hasDbXref	Orphanet:3464	Woodhouse-Sakati syndrome	semapv:ManualMappingCuration
MONDO:0009420	primary hypergonadotropic hypogonadism-partial alopecia syndrome	oboInOwl:hasDbXref	Orphanet:2232	Primary hypergonadotropic hypogonadism-partial alopecia syndrome	semapv:ManualMappingCuration
MONDO:0009424	Bartter disease type 2	oboInOwl:hasDbXref	Orphanet:620220	Bartter syndrome type 2	semapv:ManualMappingCuration
MONDO:0009425	hypomandibular faciocranial dysostosis	oboInOwl:hasDbXref	Orphanet:1790	Hypomandibular faciocranial dysostosis	semapv:ManualMappingCuration
MONDO:0009426	hypoparathyroidism-retardation-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:2323	Sanjad-Sakati syndrome	semapv:ManualMappingCuration
MONDO:0009427	obsolete infantile hypophosphatasia	oboInOwl:hasDbXref	Orphanet:247651	Infantile hypophosphatasia	semapv:ManualMappingCuration
MONDO:0009428	obsolete childhood hypophosphatasia	oboInOwl:hasDbXref	Orphanet:247667	Childhood-onset hypophosphatasia	semapv:ManualMappingCuration
MONDO:0009431	hereditary hypophosphatemic rickets with hypercalciuria	oboInOwl:hasDbXref	Orphanet:157215	Hereditary hypophosphatemic rickets with hypercalciuria	semapv:ManualMappingCuration
MONDO:0009435	hypospadias-intellectual disability, Goldblatt type syndrome	oboInOwl:hasDbXref	Orphanet:2261	Hypospadias-intellectual disability, Goldblatt type syndrome	semapv:ManualMappingCuration
MONDO:0009436	congenital hypothalamic hamartoma syndrome	oboInOwl:hasDbXref	Orphanet:2113	Congenital hypothalamic hamartoma syndrome	semapv:ManualMappingCuration
MONDO:0009437	Bamforth-Lazarus syndrome	oboInOwl:hasDbXref	Orphanet:1226	Bamforth-Lazarus syndrome	semapv:ManualMappingCuration
MONDO:0009443	autosomal recessive congenital ichthyosis 4B	oboInOwl:hasDbXref	Orphanet:457	Harlequin ichthyosis	semapv:ManualMappingCuration
MONDO:0009444	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2269	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0009445	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	oboInOwl:hasDbXref	Orphanet:2274	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	semapv:ManualMappingCuration
MONDO:0009446	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	oboInOwl:hasDbXref	Orphanet:2278	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	semapv:ManualMappingCuration
MONDO:0009448	iminoglycinuria	oboInOwl:hasDbXref	Orphanet:42062	Iminoglycinuria	semapv:ManualMappingCuration
MONDO:0009451	Nezelof syndrome	oboInOwl:hasDbXref	Orphanet:83471	T-cell immunodeficiency with thymic aplasia	semapv:ManualMappingCuration
MONDO:0009452	Vici syndrome	oboInOwl:hasDbXref	Orphanet:1493	Vici syndrome	semapv:ManualMappingCuration
MONDO:0009458	Schimke immuno-osseous dysplasia	oboInOwl:hasDbXref	Orphanet:1830	Schimke immuno-osseous dysplasia	semapv:ManualMappingCuration
MONDO:0009459	channelopathy-associated congenital insensitivity to pain, autosomal recessive	oboInOwl:hasDbXref	Orphanet:88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy	semapv:ManualMappingCuration
MONDO:0009461	spermatogenic failure 5	oboInOwl:hasDbXref	Orphanet:137893	Male infertility due to large-headed multiflagellar polyploid spermatozoa	semapv:ManualMappingCuration
MONDO:0009465	multiple intestinal atresia	oboInOwl:hasDbXref	Orphanet:2300	Multiple intestinal atresia	semapv:ManualMappingCuration
MONDO:0009467	natal teeth-intestinal pseudoobstruction-patent ductus syndrome	oboInOwl:hasDbXref	Orphanet:1654	OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome	semapv:ManualMappingCuration
MONDO:0009468	pseudotumor cerebri	oboInOwl:hasDbXref	Orphanet:238624	Idiopathic intracranial hypertension	semapv:ManualMappingCuration
MONDO:0009469	benign recurrent intrahepatic cholestasis type 1	oboInOwl:hasDbXref	Orphanet:99960	Benign recurrent intrahepatic cholestasis type 1	semapv:ManualMappingCuration
MONDO:0009473	isotretinoin-like syndrome	oboInOwl:hasDbXref	Orphanet:2306	Isotretinoin-like syndrome	semapv:ManualMappingCuration
MONDO:0009475	isovaleric acidemia	oboInOwl:hasDbXref	Orphanet:33	Isovaleric acidemia	semapv:ManualMappingCuration
MONDO:0009476	atresia of small intestine	oboInOwl:hasDbXref	Orphanet:1201	Small bowel atresia	semapv:ManualMappingCuration
MONDO:0009477	Stromme syndrome	oboInOwl:hasDbXref	Orphanet:444069	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0009477	Stromme syndrome	oboInOwl:hasDbXref	Orphanet:506307	Stromme syndrome	semapv:ManualMappingCuration
MONDO:0009478	combined immunodeficiency due to DOCK8 deficiency	oboInOwl:hasDbXref	Orphanet:217390	Combined immunodeficiency due to DOCK8 deficiency	semapv:ManualMappingCuration
MONDO:0009479	Johanson-Blizzard syndrome	oboInOwl:hasDbXref	Orphanet:2315	Johanson-Blizzard syndrome	semapv:ManualMappingCuration
MONDO:0009480	Joubert syndrome with oculorenal defect	oboInOwl:hasDbXref	Orphanet:2318	Joubert syndrome with oculorenal defect	semapv:ManualMappingCuration
MONDO:0009483	Kapur-Toriello syndrome	oboInOwl:hasDbXref	Orphanet:2328	Kapur-Toriello syndrome	semapv:ManualMappingCuration
MONDO:0009484	primary ciliary dyskinesia 1	oboInOwl:hasDbXref	Orphanet:98861	Primary ciliary dyskinesia, Kartagener type	semapv:ManualMappingCuration
MONDO:0009485	oculocerebrofacial syndrome, Kaufman type	oboInOwl:hasDbXref	Orphanet:2707	Oculocerebrofacial syndrome, Kaufman type	semapv:ManualMappingCuration
MONDO:0009486	autosomal recessive Kenny-Caffey syndrome	oboInOwl:hasDbXref	Orphanet:93324	Autosomal recessive Kenny-Caffey syndrome	semapv:ManualMappingCuration
MONDO:0009489	hereditary palmoplantar keratoderma, Gamborg-Nielsen type	oboInOwl:hasDbXref	Orphanet:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	semapv:ManualMappingCuration
MONDO:0009490	Papillon-Lefevre disease	oboInOwl:hasDbXref	Orphanet:678	Papillon-Lefèvre syndrome	semapv:ManualMappingCuration
MONDO:0009491	Haim-Munk syndrome	oboInOwl:hasDbXref	Orphanet:2342	Haim-Munk syndrome	semapv:ManualMappingCuration
MONDO:0009492	succinyl-CoA:3-ketoacid CoA transferase deficiency	oboInOwl:hasDbXref	Orphanet:832	Succinyl-CoA:3-oxoacid CoA transferase deficiency	semapv:ManualMappingCuration
MONDO:0009493	Richards-Rundle syndrome	oboInOwl:hasDbXref	Orphanet:1399	Richards-Rundle syndrome	semapv:ManualMappingCuration
MONDO:0009495	Keutel syndrome	oboInOwl:hasDbXref	Orphanet:85202	Keutel syndrome	semapv:ManualMappingCuration
MONDO:0009498	lethal Kniest-like dysplasia	oboInOwl:hasDbXref	Orphanet:2347	Lethal Kniest-like dysplasia	semapv:ManualMappingCuration
MONDO:0009499	Krabbe disease	oboInOwl:hasDbXref	Orphanet:487	Krabbe disease	semapv:ManualMappingCuration
MONDO:0009501	metabolic myopathy due to lactate transporter defect	oboInOwl:hasDbXref	Orphanet:171690	Metabolic myopathy due to lactate transporter defect	semapv:ManualMappingCuration
MONDO:0009502	pyruvate dehydrogenase E2 deficiency	oboInOwl:hasDbXref	Orphanet:79244	Pyruvate dehydrogenase E2 deficiency	semapv:ManualMappingCuration
MONDO:0009503	pyruvate dehydrogenase E3-binding protein deficiency	oboInOwl:hasDbXref	Orphanet:255182	Pyruvate dehydrogenase E3-binding protein deficiency	semapv:ManualMappingCuration
MONDO:0009504	mitochondrial DNA depletion syndrome 9	oboInOwl:hasDbXref	Orphanet:17	Fatal infantile lactic acidosis with methylmalonic aciduria	semapv:ManualMappingCuration
MONDO:0009506	specific granule deficiency	oboInOwl:hasDbXref	Orphanet:169142	Recurrent infections due to specific granule deficiency	semapv:ManualMappingCuration
MONDO:0009507	Lambert syndrome	oboInOwl:hasDbXref	Orphanet:1296	Lambert syndrome	semapv:ManualMappingCuration
MONDO:0009509	Landau-Kleffner syndrome	oboInOwl:hasDbXref	Orphanet:98818	Landau-Kleffner syndrome	semapv:ManualMappingCuration
MONDO:0009511	Larsen-like syndrome, B3GAT3 type	oboInOwl:hasDbXref	Orphanet:284139	Larsen-like syndrome, B3GAT3 type	semapv:ManualMappingCuration
MONDO:0009512	lethal Larsen-like syndrome	oboInOwl:hasDbXref	Orphanet:2371	Lethal Larsen-like syndrome	semapv:ManualMappingCuration
MONDO:0009513	laryngo-onycho-cutaneous syndrome	oboInOwl:hasDbXref	Orphanet:2407	Laryngo-onycho-cutaneous syndrome	semapv:ManualMappingCuration
MONDO:0009514	Laurence-Moon syndrome	oboInOwl:hasDbXref	Orphanet:2377	Laurence-Moon syndrome	semapv:ManualMappingCuration
MONDO:0009515	Norum disease	oboInOwl:hasDbXref	Orphanet:79293	Familial LCAT deficiency	semapv:ManualMappingCuration
MONDO:0009516	absence deformity of leg-cataract syndrome	oboInOwl:hasDbXref	Orphanet:2310	Absence deformity of leg-cataract syndrome	semapv:ManualMappingCuration
MONDO:0009517	Donohue syndrome	oboInOwl:hasDbXref	Orphanet:508	Leprechaunism	semapv:ManualMappingCuration
MONDO:0009519	letterer-Siwe disease	oboInOwl:hasDbXref	Orphanet:99870	OBSOLETE: Letterer-Siwe disease	semapv:ManualMappingCuration
MONDO:0009520	3-hydroxy-3-methylglutaric aciduria	oboInOwl:hasDbXref	Orphanet:20	3-hydroxy-3-methylglutaric aciduria	semapv:ManualMappingCuration
MONDO:0009522	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	oboInOwl:hasDbXref	Orphanet:1816	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	semapv:ManualMappingCuration
MONDO:0009523	Lichtenstein syndrome	oboInOwl:hasDbXref	Orphanet:2390	Lichtenstein syndrome	semapv:ManualMappingCuration
MONDO:0009524	intellectual disability-spasticity-ectrodactyly syndrome	oboInOwl:hasDbXref	Orphanet:1891	Intellectual disability-spasticity-ectrodactyly syndrome	semapv:ManualMappingCuration
MONDO:0009525	split hand-foot malformation 3	oboInOwl:hasDbXref	Orphanet:1307	Distal limb deficiencies-micrognathia syndrome	semapv:ManualMappingCuration
MONDO:0009526	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome	oboInOwl:hasDbXref	Orphanet:480773	OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome	semapv:ManualMappingCuration
MONDO:0009527	lipase deficiency, combined	oboInOwl:hasDbXref	Orphanet:535453	Familial lipase maturation factor 1 deficiency	semapv:ManualMappingCuration
MONDO:0009528	chylomicron retention disease	oboInOwl:hasDbXref	Orphanet:71	Chylomicron retention disease	semapv:ManualMappingCuration
MONDO:0009529	pyruvate dehydrogenase E3 deficiency	oboInOwl:hasDbXref	Orphanet:2394	Pyruvate dehydrogenase E3 deficiency	semapv:ManualMappingCuration
MONDO:0009530	lipoid proteinosis	oboInOwl:hasDbXref	Orphanet:530	Lipoid proteinosis	semapv:ManualMappingCuration
MONDO:0009532	Miller-Dieker lissencephaly syndrome	oboInOwl:hasDbXref	Orphanet:531	Miller-Dieker syndrome	semapv:ManualMappingCuration
MONDO:0009533	Dahlberg-Borer-Newcomer syndrome	oboInOwl:hasDbXref	Orphanet:1563	Dahlberg-Borer-Newcomer syndrome	semapv:ManualMappingCuration
MONDO:0009537	lymphoid interstitial pneumonia	oboInOwl:hasDbXref	Orphanet:79128	Lymphoid interstitial pneumonia	semapv:ManualMappingCuration
MONDO:0009543	prominent glabella-microcephaly-hypogenitalism syndrome	oboInOwl:hasDbXref	Orphanet:2083	Prominent glabella-microcephaly-hypogenitalism syndrome	semapv:ManualMappingCuration
MONDO:0009547	macrosomia-microphthalmia-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:2432	Macrosomia-microphthalmia-cleft palate syndrome	semapv:ManualMappingCuration
MONDO:0009548	renal hypomagnesemia 5 with ocular involvement	oboInOwl:hasDbXref	Orphanet:2196	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	semapv:ManualMappingCuration
MONDO:0009549	severe early-childhood-onset retinal dystrophy	oboInOwl:hasDbXref	Orphanet:364055	Severe early-childhood-onset retinal dystrophy	semapv:ManualMappingCuration
MONDO:0009550	renal hypomagnesemia 3	oboInOwl:hasDbXref	Orphanet:31043	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	semapv:ManualMappingCuration
MONDO:0009552	mal de Meleda	oboInOwl:hasDbXref	Orphanet:87503	Mal de Meleda	semapv:ManualMappingCuration
MONDO:0009554	3MC syndrome 3	oboInOwl:hasDbXref	Orphanet:2453	Malpuech syndrome	semapv:ManualMappingCuration
MONDO:0009556	malonic aciduria	oboInOwl:hasDbXref	Orphanet:943	Malonic aciduria	semapv:ManualMappingCuration
MONDO:0009557	mandibuloacral dysplasia with type A lipodystrophy	oboInOwl:hasDbXref	Orphanet:90153	Mandibuloacral dysplasia with type A lipodystrophy	semapv:ManualMappingCuration
MONDO:0009560	oculotrichoanal syndrome	oboInOwl:hasDbXref	Orphanet:2717	Oculotrichoanal syndrome	semapv:ManualMappingCuration
MONDO:0009561	alpha-mannosidosis	oboInOwl:hasDbXref	Orphanet:61	Alpha-mannosidosis	semapv:ManualMappingCuration
MONDO:0009562	beta-mannosidosis	oboInOwl:hasDbXref	Orphanet:118	Beta-mannosidosis	semapv:ManualMappingCuration
MONDO:0009563	maple syrup urine disease	oboInOwl:hasDbXref	Orphanet:511	Maple syrup urine disease	semapv:ManualMappingCuration
MONDO:0009564	Marden-Walker syndrome	oboInOwl:hasDbXref	Orphanet:2461	Marden-Walker syndrome	semapv:ManualMappingCuration
MONDO:0009565	microcephaly-glomerulonephritis-marfanoid habitus syndrome	oboInOwl:hasDbXref	Orphanet:2172	Microcephaly-glomerulonephritis-marfanoid habitus syndrome	semapv:ManualMappingCuration
MONDO:0009566	marfanoid habitus-autosomal recessive intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0009567	Marinesco-Sjogren syndrome	oboInOwl:hasDbXref	Orphanet:559	Marinesco-Sjögren syndrome	semapv:ManualMappingCuration
MONDO:0009568	mast syndrome	oboInOwl:hasDbXref	Orphanet:101001	Autosomal recessive spastic paraplegia type 21	semapv:ManualMappingCuration
MONDO:0009569	Hennekam-Beemer syndrome	oboInOwl:hasDbXref	Orphanet:2135	Cutaneous mastocytosis-deafness-microtia syndrome	semapv:ManualMappingCuration
MONDO:0009570	McDonough syndrome	oboInOwl:hasDbXref	Orphanet:2471	McDonough syndrome	semapv:ManualMappingCuration
MONDO:0009575	thiamine-responsive megaloblastic anemia syndrome	oboInOwl:hasDbXref	Orphanet:49827	Thiamine-responsive megaloblastic anemia syndrome	semapv:ManualMappingCuration
MONDO:0009577	megalocornea-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2479	Megalocornea-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0009578	neurocutaneous melanocytosis	oboInOwl:hasDbXref	Orphanet:2481	Neurocutaneous melanocytosis	semapv:ManualMappingCuration
MONDO:0009579	Frank-Ter Haar syndrome	oboInOwl:hasDbXref	Orphanet:137834	Frank-Ter Haar syndrome	semapv:ManualMappingCuration
MONDO:0009581	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	oboInOwl:hasDbXref	Orphanet:3044	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	semapv:ManualMappingCuration
MONDO:0009582	Mietens syndrome	oboInOwl:hasDbXref	Orphanet:2557	Mietens syndrome	semapv:ManualMappingCuration
MONDO:0009583	blepharophimosis - intellectual disability syndrome, Ohdo type	oboInOwl:hasDbXref	Orphanet:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	semapv:ManualMappingCuration
MONDO:0009584	intellectual disability, Buenos-Aires type	oboInOwl:hasDbXref	Orphanet:3079	Intellectual disability, Buenos-Aires type	semapv:ManualMappingCuration
MONDO:0009585	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	oboInOwl:hasDbXref	Orphanet:1035	Beta-mercaptolactate cysteine disulfiduria	semapv:ManualMappingCuration
MONDO:0009588	Langer mesomelic dysplasia	oboInOwl:hasDbXref	Orphanet:2632	Langer mesomelic dysplasia	semapv:ManualMappingCuration
MONDO:0009589	mesomelic dwarfism-cleft palate-camptodactyly syndrome	oboInOwl:hasDbXref	Orphanet:2631	Mesomelic dwarfism-cleft palate-camptodactyly syndrome	semapv:ManualMappingCuration
MONDO:0009591	metachromatic leukodystrophy, juvenile form	oboInOwl:hasDbXref	Orphanet:309263	Metachromatic leukodystrophy, juvenile form	semapv:ManualMappingCuration
MONDO:0009592	metaphyseal acroscyphodysplasia	oboInOwl:hasDbXref	Orphanet:1240	Metaphyseal acroscyphodysplasia	semapv:ManualMappingCuration
MONDO:0009593	spondylometaphyseal dysplasia, Sedaghatian type	oboInOwl:hasDbXref	Orphanet:93317	Spondylometaphyseal dysplasia, Sedaghatian type	semapv:ManualMappingCuration
MONDO:0009594	metaphyseal chondrodysplasia, Kaitila type	oboInOwl:hasDbXref	Orphanet:166038	Metaphyseal chondrodysplasia, Kaitila type	semapv:ManualMappingCuration
MONDO:0009595	cartilage-hair hypoplasia	oboInOwl:hasDbXref	Orphanet:175	Cartilage-hair hypoplasia	semapv:ManualMappingCuration
MONDO:0009597	metaphyseal chondrodysplasia, Spahr type	oboInOwl:hasDbXref	Orphanet:2501	Metaphyseal chondrodysplasia, Spahr type	semapv:ManualMappingCuration
MONDO:0009598	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0009599	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	oboInOwl:hasDbXref	Orphanet:2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	semapv:ManualMappingCuration
MONDO:0009601	metaphyseal dysplasia without hypotrichosis	oboInOwl:hasDbXref	Orphanet:1838	Metaphyseal dysplasia without hypotrichosis	semapv:ManualMappingCuration
MONDO:0009603	3-hydroxyisobutyryl-CoA hydrolase deficiency	oboInOwl:hasDbXref	Orphanet:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	semapv:ManualMappingCuration
MONDO:0009607	methionine adenosyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:168598	Methionine adenosyltransferase I/III deficiency	semapv:ManualMappingCuration
MONDO:0009609	methylcobalamin deficiency type cblG	oboInOwl:hasDbXref	Orphanet:2170	Methylcobalamin deficiency type cblG	semapv:ManualMappingCuration
MONDO:0009610	3-methylglutaconic aciduria type 1	oboInOwl:hasDbXref	Orphanet:67046	3-methylglutaconic aciduria type 1	semapv:ManualMappingCuration
MONDO:0009611	3-methylglutaconic aciduria type 4	oboInOwl:hasDbXref	Orphanet:67048	3-methylglutaconic aciduria type 4	semapv:ManualMappingCuration
MONDO:0009612	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	oboInOwl:hasDbXref	Orphanet:27	Vitamin B12-unresponsive methylmalonic acidemia	semapv:ManualMappingCuration
MONDO:0009613	methylmalonic aciduria, cblA type	oboInOwl:hasDbXref	Orphanet:79310	Vitamin B12-responsive methylmalonic acidemia type cblA	semapv:ManualMappingCuration
MONDO:0009614	methylmalonic aciduria, cblB type	oboInOwl:hasDbXref	Orphanet:79311	Vitamin B12-responsive methylmalonic acidemia type cblB	semapv:ManualMappingCuration
MONDO:0009615	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	oboInOwl:hasDbXref	Orphanet:308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	semapv:ManualMappingCuration
MONDO:0009616	microcephalic primordial dwarfism, Toriello type	oboInOwl:hasDbXref	Orphanet:2643	Microcephalic primordial dwarfism, Toriello type	semapv:ManualMappingCuration
MONDO:0009617	microcephaly 1, primary, autosomal recessive	oboInOwl:hasDbXref	Orphanet:52183	Premature chromosome condensation with microcephaly and intellectual disability	semapv:ManualMappingCuration
MONDO:0009618	microcephaly-cardiomyopathy syndrome	oboInOwl:hasDbXref	Orphanet:2515	Microcephaly-cardiomyopathy syndrome	semapv:ManualMappingCuration
MONDO:0009619	microcephaly-micromelia syndrome	oboInOwl:hasDbXref	Orphanet:572768	Microcephaly-micromelia syndrome	semapv:ManualMappingCuration
MONDO:0009620	Say-Barber-Miller syndrome	oboInOwl:hasDbXref	Orphanet:3132	Say-Barber-Miller syndrome	semapv:ManualMappingCuration
MONDO:0009621	microcephaly-cervical spine fusion anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2522	Microcephaly-cervical spine fusion anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009622	Jawad syndrome	oboInOwl:hasDbXref	Orphanet:313795	Jawad syndrome	semapv:ManualMappingCuration
MONDO:0009623	Nijmegen breakage syndrome	oboInOwl:hasDbXref	Orphanet:647	Nijmegen breakage syndrome	semapv:ManualMappingCuration
MONDO:0009624	microcephaly and chorioretinopathy 1	oboInOwl:hasDbXref	Orphanet:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0009626	pseudo-TORCH syndrome	oboInOwl:hasDbXref	Orphanet:1229	Congenital intrauterine infection-like syndrome	semapv:ManualMappingCuration
MONDO:0009627	Galloway-Mowat syndrome	oboInOwl:hasDbXref	Orphanet:2065	Galloway-Mowat syndrome	semapv:ManualMappingCuration
MONDO:0009635	microvillus inclusion disease	oboInOwl:hasDbXref	Orphanet:2290	Microvillus inclusion disease	semapv:ManualMappingCuration
MONDO:0009636	mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	oboInOwl:hasDbXref	Orphanet:279934	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	semapv:ManualMappingCuration
MONDO:0009637	inborn mitochondrial myopathy	oboInOwl:hasDbXref	Orphanet:206966	Mitochondrial myopathy	semapv:ManualMappingCuration
MONDO:0009642	orofaciodigital syndrome type II	oboInOwl:hasDbXref	Orphanet:2751	Orofaciodigital syndrome type 2	semapv:ManualMappingCuration
MONDO:0009643	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	oboInOwl:hasDbXref	Orphanet:308386	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	semapv:ManualMappingCuration
MONDO:0009644	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	oboInOwl:hasDbXref	Orphanet:308393	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	semapv:ManualMappingCuration
MONDO:0009648	peripheral motor neuropathy-dysautonomia syndrome	oboInOwl:hasDbXref	Orphanet:2400	Peripheral motor neuropathy-dysautonomia syndrome	semapv:ManualMappingCuration
MONDO:0009650	mucolipidosis type II	oboInOwl:hasDbXref	Orphanet:576	Mucolipidosis type II	semapv:ManualMappingCuration
MONDO:0009652	GNPTG-mucolipidosis	oboInOwl:hasDbXref	Orphanet:423470	Mucolipidosis type III gamma	semapv:ManualMappingCuration
MONDO:0009653	mucolipidosis type IV	oboInOwl:hasDbXref	Orphanet:578	Mucolipidosis type IV	semapv:ManualMappingCuration
MONDO:0009655	mucopolysaccharidosis type 3A	oboInOwl:hasDbXref	Orphanet:79269	Sanfilippo syndrome type A	semapv:ManualMappingCuration
MONDO:0009656	mucopolysaccharidosis type 3B	oboInOwl:hasDbXref	Orphanet:79270	Sanfilippo syndrome type B	semapv:ManualMappingCuration
MONDO:0009657	mucopolysaccharidosis type 3C	oboInOwl:hasDbXref	Orphanet:79271	Sanfilippo syndrome type C	semapv:ManualMappingCuration
MONDO:0009658	mucopolysaccharidosis type 3D	oboInOwl:hasDbXref	Orphanet:79272	Sanfilippo syndrome type D	semapv:ManualMappingCuration
MONDO:0009659	mucopolysaccharidosis type 4A	oboInOwl:hasDbXref	Orphanet:309297	Mucopolysaccharidosis type 4A	semapv:ManualMappingCuration
MONDO:0009660	mucopolysaccharidosis type 4B	oboInOwl:hasDbXref	Orphanet:309310	Mucopolysaccharidosis type 4B	semapv:ManualMappingCuration
MONDO:0009661	mucopolysaccharidosis type 6	oboInOwl:hasDbXref	Orphanet:583	Mucopolysaccharidosis type 6	semapv:ManualMappingCuration
MONDO:0009662	mucopolysaccharidosis type 7	oboInOwl:hasDbXref	Orphanet:584	Mucopolysaccharidosis type 7	semapv:ManualMappingCuration
MONDO:0009664	mulibrey nanism	oboInOwl:hasDbXref	Orphanet:2576	Mulibrey nanism	semapv:ManualMappingCuration
MONDO:0009665	biotinidase deficiency	oboInOwl:hasDbXref	Orphanet:79241	Biotinidase deficiency	semapv:ManualMappingCuration
MONDO:0009666	holocarboxylase synthetase deficiency	oboInOwl:hasDbXref	Orphanet:79242	Holocarboxylase synthetase deficiency	semapv:ManualMappingCuration
MONDO:0009668	lethal multiple pterygium syndrome	oboInOwl:hasDbXref	Orphanet:33108	Lethal multiple pterygium syndrome	semapv:ManualMappingCuration
MONDO:0009669	spinal muscular atrophy, type 1	oboInOwl:hasDbXref	Orphanet:83330	Proximal spinal muscular atrophy type 1	semapv:ManualMappingCuration
MONDO:0009670	lethal congenital contracture syndrome 1	oboInOwl:hasDbXref	Orphanet:1486	Lethal congenital contracture syndrome type 1	semapv:ManualMappingCuration
MONDO:0009671	intellectual disability-myopathy-short stature-endocrine defect syndrome	oboInOwl:hasDbXref	Orphanet:3068	Intellectual disability-myopathy-short stature-endocrine defect syndrome	semapv:ManualMappingCuration
MONDO:0009672	spinal muscular atrophy, type III	oboInOwl:hasDbXref	Orphanet:83419	Proximal spinal muscular atrophy type 3	semapv:ManualMappingCuration
MONDO:0009673	spinal muscular atrophy, type II	oboInOwl:hasDbXref	Orphanet:83418	Proximal spinal muscular atrophy type 2	semapv:ManualMappingCuration
MONDO:0009675	autosomal recessive limb-girdle muscular dystrophy type 2A	oboInOwl:hasDbXref	Orphanet:267	Calpain-3-related limb-girdle muscular dystrophy R1	semapv:ManualMappingCuration
MONDO:0009676	autosomal recessive limb-girdle muscular dystrophy type 2B	oboInOwl:hasDbXref	Orphanet:268	Dysferlin-related limb-girdle muscular dystrophy R2	semapv:ManualMappingCuration
MONDO:0009677	autosomal recessive limb-girdle muscular dystrophy type 2C	oboInOwl:hasDbXref	Orphanet:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	semapv:ManualMappingCuration
MONDO:0009678	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	oboInOwl:hasDbXref	Orphanet:272	Congenital muscular dystrophy, Fukuyama type	semapv:ManualMappingCuration
MONDO:0009679	arthrogryposis due to muscular dystrophy	oboInOwl:hasDbXref	Orphanet:1155	OBSOLETE: Arthrogryposis due to muscular dystrophy	semapv:ManualMappingCuration
MONDO:0009680	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0009683	autosomal recessive limb-girdle muscular dystrophy type 2H	oboInOwl:hasDbXref	Orphanet:1878	TRIM32-related limb-girdle muscular dystrophy R8	semapv:ManualMappingCuration
MONDO:0009685	Miyoshi myopathy	oboInOwl:hasDbXref	Orphanet:45448	Miyoshi myopathy	semapv:ManualMappingCuration
MONDO:0009688	myasthenia gravis	oboInOwl:hasDbXref	Orphanet:589	Myasthenia gravis	semapv:ManualMappingCuration
MONDO:0009691	mycosis fungoides	oboInOwl:hasDbXref	Orphanet:2584	Classic mycosis fungoides	semapv:ManualMappingCuration
MONDO:0009692	primary myelofibrosis	oboInOwl:hasDbXref	Orphanet:824	Primary myelofibrosis	semapv:ManualMappingCuration
MONDO:0009693	plasma cell myeloma	oboInOwl:hasDbXref	Orphanet:29073	Multiple myeloma	semapv:ManualMappingCuration
MONDO:0009694	myeloperoxidase deficiency	oboInOwl:hasDbXref	Orphanet:2587	Myeloperoxidase deficiency	semapv:ManualMappingCuration
MONDO:0009696	juvenile myoclonic epilepsy	oboInOwl:hasDbXref	Orphanet:307	Juvenile myoclonic epilepsy	semapv:ManualMappingCuration
MONDO:0009697	Lafora disease	oboInOwl:hasDbXref	Orphanet:501	Lafora disease	semapv:ManualMappingCuration
MONDO:0009698	Unverricht-Lundborg syndrome	oboInOwl:hasDbXref	Orphanet:308	Progressive myoclonic epilepsy type 1	semapv:ManualMappingCuration
MONDO:0009699	action myoclonus-renal failure syndrome	oboInOwl:hasDbXref	Orphanet:163696	Action myoclonus-renal failure syndrome	semapv:ManualMappingCuration
MONDO:0009704	carnitine palmitoyl transferase II deficiency, myopathic form	oboInOwl:hasDbXref	Orphanet:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	semapv:ManualMappingCuration
MONDO:0009705	carnitine palmitoyl transferase 1A deficiency	oboInOwl:hasDbXref	Orphanet:156	Carnitine palmitoyl transferase 1A deficiency	semapv:ManualMappingCuration
MONDO:0009706	hereditary myopathy with lactic acidosis due to ISCU deficiency	oboInOwl:hasDbXref	Orphanet:43115	Hereditary myopathy with lactic acidosis due to ISCU deficiency	semapv:ManualMappingCuration
MONDO:0009708	myopathy, myosin storage, autosomal recessive	oboInOwl:hasDbXref	Orphanet:636970	Autosomal recessive myosin storage myopathy	semapv:ManualMappingCuration
MONDO:0009710	Thomsen and Becker disease	oboInOwl:hasDbXref	Orphanet:614	Thomsen and Becker disease	semapv:ManualMappingCuration
MONDO:0009711	congenital fiber-type disproportion myopathy	oboInOwl:hasDbXref	Orphanet:2020	Congenital fiber-type disproportion myopathy	semapv:ManualMappingCuration
MONDO:0009712	congenital multicore myopathy with external ophthalmoplegia	oboInOwl:hasDbXref	Orphanet:98905	Congenital multicore myopathy with external ophthalmoplegia	semapv:ManualMappingCuration
MONDO:0009714	myosclerosis	oboInOwl:hasDbXref	Orphanet:289380	Myosclerosis	semapv:ManualMappingCuration
MONDO:0009716	Richieri Costa-da Silva syndrome	oboInOwl:hasDbXref	Orphanet:3101	Richieri Costa-da Silva syndrome	semapv:ManualMappingCuration
MONDO:0009717	Schwartz-Jampel syndrome	oboInOwl:hasDbXref	Orphanet:800	Schwartz-Jampel syndrome	semapv:ManualMappingCuration
MONDO:0009719	familial atrial myxoma	oboInOwl:hasDbXref	Orphanet:615	Familial atrial myxoma	semapv:ManualMappingCuration
MONDO:0009720	Keipert syndrome	oboInOwl:hasDbXref	Orphanet:2662	Keipert syndrome	semapv:ManualMappingCuration
MONDO:0009721	Nathalie syndrome	oboInOwl:hasDbXref	Orphanet:2663	Nathalie syndrome	semapv:ManualMappingCuration
MONDO:0009722	Bailey-Bloch congenital myopathy	oboInOwl:hasDbXref	Orphanet:168572	Native American myopathy	semapv:ManualMappingCuration
MONDO:0009723	Leigh syndrome	oboInOwl:hasDbXref	Orphanet:506	Leigh syndrome	semapv:ManualMappingCuration
MONDO:0009724	nail-patella-like renal disease	oboInOwl:hasDbXref	Orphanet:2613	Nail-patella-like renal disease	semapv:ManualMappingCuration
MONDO:0009726	proteosome-associated autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:2615	Nakajo-Nishimura syndrome	semapv:ManualMappingCuration
MONDO:0009726	proteosome-associated autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:324977	Proteasome-associated autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0009726	proteosome-associated autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:324999	JMP syndrome	semapv:ManualMappingCuration
MONDO:0009726	proteosome-associated autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:325004	CANDLE syndrome	semapv:ManualMappingCuration
MONDO:0009727	atelosteogenesis type II	oboInOwl:hasDbXref	Orphanet:56304	Atelosteogenesis type II	semapv:ManualMappingCuration
MONDO:0009728	nephronophthisis 1	oboInOwl:hasDbXref	Orphanet:93592	Juvenile nephronophthisis	semapv:ManualMappingCuration
MONDO:0009729	nephropathy - deafness - hyperparathyroidism syndrome	oboInOwl:hasDbXref	Orphanet:2668	Nephropathy-deafness-hyperparathyroidism syndrome	semapv:ManualMappingCuration
MONDO:0009731	nephrosis-deafness-urinary tract-digital malformations syndrome	oboInOwl:hasDbXref	Orphanet:2669	Nephrosis-deafness-urinary tract-digital malformations syndrome	semapv:ManualMappingCuration
MONDO:0009732	congenital nephrotic syndrome, Finnish type	oboInOwl:hasDbXref	Orphanet:839	Congenital nephrotic syndrome, Finnish type	semapv:ManualMappingCuration
MONDO:0009735	Netherton syndrome	oboInOwl:hasDbXref	Orphanet:634	Netherton syndrome	semapv:ManualMappingCuration
MONDO:0009736	Neu-Laxova syndrome 1	oboInOwl:hasDbXref	Orphanet:583607	Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0009737	galactosialidosis	oboInOwl:hasDbXref	Orphanet:351	Galactosialidosis	semapv:ManualMappingCuration
MONDO:0009738	sialidosis type 2	oboInOwl:hasDbXref	Orphanet:87876	Sialidosis type 2	semapv:ManualMappingCuration
MONDO:0009740	neurofaciodigitorenal syndrome	oboInOwl:hasDbXref	Orphanet:2673	Neurofaciodigitorenal syndrome	semapv:ManualMappingCuration
MONDO:0009742	neuroectodermal melanolysosomal disease	oboInOwl:hasDbXref	Orphanet:33445	Neuroectodermal melanolysosomal disease	semapv:ManualMappingCuration
MONDO:0009744	neuronal ceroid lipofuscinosis 1	oboInOwl:hasDbXref	Orphanet:228329	CLN1 disease	semapv:ManualMappingCuration
MONDO:0009745	neuronal ceroid lipofuscinosis 5	oboInOwl:hasDbXref	Orphanet:228360	CLN5 disease	semapv:ManualMappingCuration
MONDO:0009746	hereditary sensory and autonomic neuropathy type 4	oboInOwl:hasDbXref	Orphanet:642	Hereditary sensory and autonomic neuropathy type 4	semapv:ManualMappingCuration
MONDO:0009747	mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	oboInOwl:hasDbXref	Orphanet:255229	Navajo neurohepatopathy	semapv:ManualMappingCuration
MONDO:0009748	hereditary sensory and autonomic neuropathy with spastic paraplegia	oboInOwl:hasDbXref	Orphanet:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	semapv:ManualMappingCuration
MONDO:0009749	giant axonal neuropathy 1	oboInOwl:hasDbXref	Orphanet:643	Giant axonal neuropathy	semapv:ManualMappingCuration
MONDO:0009755	neutrophil actin dysfunction	oboInOwl:hasDbXref	Orphanet:625	NON RARE IN EUROPE: Atypical mole	semapv:ManualMappingCuration
MONDO:0009756	Niemann-Pick disease type A	oboInOwl:hasDbXref	Orphanet:77292	Infantile neurovisceral acid sphingomyelinase deficiency	semapv:ManualMappingCuration
MONDO:0009760	Norman-Roberts syndrome	oboInOwl:hasDbXref	Orphanet:89844	Lissencephaly syndrome, Norman-Roberts type	semapv:ManualMappingCuration
MONDO:0009761	cystic hygroma	oboInOwl:hasDbXref	Orphanet:79486	Cystic hygroma	semapv:ManualMappingCuration
MONDO:0009764	ocular motor apraxia, Cogan type	oboInOwl:hasDbXref	Orphanet:1125	Ocular motor apraxia, Cogan type	semapv:ManualMappingCuration
MONDO:0009766	oculocerebral hypopigmentation syndrome of Preus	oboInOwl:hasDbXref	Orphanet:2720	Oculocerebral hypopigmentation syndrome, Preus type	semapv:ManualMappingCuration
MONDO:0009767	oculocerebral hypopigmentation syndrome, Cross type	oboInOwl:hasDbXref	Orphanet:2719	Oculocerebral hypopigmentation syndrome, Cross type	semapv:ManualMappingCuration
MONDO:0009769	oculo-palato-cerebral syndrome	oboInOwl:hasDbXref	Orphanet:2714	Oculo-palato-cerebral syndrome	semapv:ManualMappingCuration
MONDO:0009770	3MC syndrome 1	oboInOwl:hasDbXref	Orphanet:2506	Michels syndrome	semapv:ManualMappingCuration
MONDO:0009771	oculotrichodysplasia	oboInOwl:hasDbXref	Orphanet:2718	Oculotrichodysplasia	semapv:ManualMappingCuration
MONDO:0009772	oculorenocerebellar syndrome	oboInOwl:hasDbXref	Orphanet:2715	Severe oculo-renal-cerebellar syndrome	semapv:ManualMappingCuration
MONDO:0009773	odonto-onycho-dermal dysplasia	oboInOwl:hasDbXref	Orphanet:2721	Odonto-onycho-dermal dysplasia	semapv:ManualMappingCuration
MONDO:0009774	cloacal exstrophy	oboInOwl:hasDbXref	Orphanet:93929	Cloacal exstrophy	semapv:ManualMappingCuration
MONDO:0009777	Oliver syndrome	oboInOwl:hasDbXref	Orphanet:2920	Oliver syndrome	semapv:ManualMappingCuration
MONDO:0009779	autosomal recessive omodysplasia	oboInOwl:hasDbXref	Orphanet:93329	Autosomal recessive omodysplasia	semapv:ManualMappingCuration
MONDO:0009780	lethal omphalocele-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:2736	Lethal omphalocele-cleft palate syndrome	semapv:ManualMappingCuration
MONDO:0009781	Onychotrichodysplasia and neutropenia	oboInOwl:hasDbXref	Orphanet:2739	Onycho-tricho-dysplasia-neutropenia syndrome	semapv:ManualMappingCuration
MONDO:0009785	opsismodysplasia	oboInOwl:hasDbXref	Orphanet:2746	Opsismodysplasia	semapv:ManualMappingCuration
MONDO:0009786	optic atrophy 6	oboInOwl:hasDbXref	Orphanet:99012	OBSOLETE: Autosomal recessive optic atrophy, OPA6 type	semapv:ManualMappingCuration
MONDO:0009787	3-methylglutaconic aciduria type 3	oboInOwl:hasDbXref	Orphanet:67047	3-methylglutaconic aciduria type 3	semapv:ManualMappingCuration
MONDO:0009792	ichthyosis-oral and digital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2272	Ichthyosis-oral and digital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009793	orofaciodigital syndrome III	oboInOwl:hasDbXref	Orphanet:2752	Orofaciodigital syndrome type 3	semapv:ManualMappingCuration
MONDO:0009794	orofaciodigital syndrome IV	oboInOwl:hasDbXref	Orphanet:2753	Orofaciodigital syndrome type 4	semapv:ManualMappingCuration
MONDO:0009795	orofaciodigital syndrome IX	oboInOwl:hasDbXref	Orphanet:141007	Orofaciodigital syndrome type 9	semapv:ManualMappingCuration
MONDO:0009796	ornithine aminotransferase deficiency	oboInOwl:hasDbXref	Orphanet:414	Gyrate atrophy of choroid and retina	semapv:ManualMappingCuration
MONDO:0009797	orotic aciduria	oboInOwl:hasDbXref	Orphanet:30	Hereditary orotic aciduria	semapv:ManualMappingCuration
MONDO:0009798	Primrose syndrome	oboInOwl:hasDbXref	Orphanet:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	semapv:ManualMappingCuration
MONDO:0009801	familial osteodysplasia, Anderson type	oboInOwl:hasDbXref	Orphanet:2769	Familial osteodysplasia, Anderson type	semapv:ManualMappingCuration
MONDO:0009803	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	oboInOwl:hasDbXref	Orphanet:2772	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	semapv:ManualMappingCuration
MONDO:0009804	osteogenesis imperfecta type 3	oboInOwl:hasDbXref	Orphanet:216812	Osteogenesis imperfecta type 3	semapv:ManualMappingCuration
MONDO:0009810	autosomal recessive distal osteolysis syndrome	oboInOwl:hasDbXref	Orphanet:2776	Autosomal recessive distal osteolysis syndrome	semapv:ManualMappingCuration
MONDO:0009813	chronic recurrent multifocal osteomyelitis	oboInOwl:hasDbXref	Orphanet:324964	Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis	semapv:ManualMappingCuration
MONDO:0009814	osteopenia-intellectual disability-sparse hair syndrome	oboInOwl:hasDbXref	Orphanet:2324	Osteopenia-intellectual disability-sparse hair syndrome	semapv:ManualMappingCuration
MONDO:0009818	autosomal recessive osteopetrosis 3	oboInOwl:hasDbXref	Orphanet:2785	Osteopetrosis with renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0009820	osteoporosis-pseudoglioma syndrome	oboInOwl:hasDbXref	Orphanet:2788	Osteoporosis-pseudoglioma syndrome	semapv:ManualMappingCuration
MONDO:0009821	lethal osteosclerotic bone dysplasia	oboInOwl:hasDbXref	Orphanet:1832	Osteosclerotic bone dysplasia	semapv:ManualMappingCuration
MONDO:0009822	otoonychoperoneal syndrome	oboInOwl:hasDbXref	Orphanet:2793	Otoonychoperoneal syndrome	semapv:ManualMappingCuration
MONDO:0009823	primary hyperoxaluria type 1	oboInOwl:hasDbXref	Orphanet:93598	Primary hyperoxaluria type 1	semapv:ManualMappingCuration
MONDO:0009824	primary hyperoxaluria type 2	oboInOwl:hasDbXref	Orphanet:93599	Primary hyperoxaluria type 2	semapv:ManualMappingCuration
MONDO:0009825	5-oxoprolinase deficiency	oboInOwl:hasDbXref	Orphanet:33572	5-oxoprolinase deficiency	semapv:ManualMappingCuration
MONDO:0009830	parkinsonian-pyramidal syndrome	oboInOwl:hasDbXref	Orphanet:171695	Parkinsonian-pyramidal syndrome	semapv:ManualMappingCuration
MONDO:0009832	pancreatic agenesis	oboInOwl:hasDbXref	Orphanet:2805	Partial pancreatic agenesis	semapv:ManualMappingCuration
MONDO:0009833	Shwachman-Diamond syndrome	oboInOwl:hasDbXref	Orphanet:811	Shwachman-Diamond syndrome	semapv:ManualMappingCuration
MONDO:0009835	subacute sclerosing panencephalitis	oboInOwl:hasDbXref	Orphanet:2806	Subacute sclerosing leukoencephalitis	semapv:ManualMappingCuration
MONDO:0009837	choroid plexus papilloma	oboInOwl:hasDbXref	Orphanet:2807	Papilloma of choroid plexus	semapv:ManualMappingCuration
MONDO:0009838	Parana hard-skin syndrome	oboInOwl:hasDbXref	Orphanet:2812	Parana hard skin syndrome	semapv:ManualMappingCuration
MONDO:0009839	progressive supranuclear palsy-parkinsonism syndrome	oboInOwl:hasDbXref	Orphanet:240085	Progressive supranuclear palsy-predominant parkinsonism syndrome	semapv:ManualMappingCuration
MONDO:0009840	Partington-Anderson syndrome	oboInOwl:hasDbXref	Orphanet:2829	Partington-Anderson syndrome	semapv:ManualMappingCuration
MONDO:0009841	PEHO syndrome	oboInOwl:hasDbXref	Orphanet:2836	PEHO syndrome	semapv:ManualMappingCuration
MONDO:0009843	hypomyelinating leukodystrophy 3	oboInOwl:hasDbXref	Orphanet:280293	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	semapv:ManualMappingCuration
MONDO:0009844	pellagra-like syndrome	oboInOwl:hasDbXref	Orphanet:2837	Pellagra-like skin rash-neurological manifestations syndrome	semapv:ManualMappingCuration
MONDO:0009845	pelviscapular dysplasia	oboInOwl:hasDbXref	Orphanet:93333	Pelviscapular dysplasia	semapv:ManualMappingCuration
MONDO:0009846	pentosuria	oboInOwl:hasDbXref	Orphanet:2843	Pentosuria	semapv:ManualMappingCuration
MONDO:0009848	dissecting cellulitis of the scalp	oboInOwl:hasDbXref	Orphanet:345	Dissecting cellulitis of the scalp	semapv:ManualMappingCuration
MONDO:0009849	hyperimmunoglobulinemia D with periodic fever	oboInOwl:hasDbXref	Orphanet:343	Hyperimmunoglobulinemia D with periodic fever	semapv:ManualMappingCuration
MONDO:0009852	hereditary intrinsic factor deficiency	oboInOwl:hasDbXref	Orphanet:332	Congenital intrinsic factor deficiency	semapv:ManualMappingCuration
MONDO:0009853	Imerslund-Grasbeck syndrome	oboInOwl:hasDbXref	Orphanet:35858	Imerslund-Gräsbeck syndrome	semapv:ManualMappingCuration
MONDO:0009855	d-bifunctional protein deficiency	oboInOwl:hasDbXref	Orphanet:300	Bifunctional enzyme deficiency	semapv:ManualMappingCuration
MONDO:0009856	Peters plus syndrome	oboInOwl:hasDbXref	Orphanet:709	Peters plus syndrome	semapv:ManualMappingCuration
MONDO:0009857	persistent Mullerian duct syndrome	oboInOwl:hasDbXref	Orphanet:2856	Persistent Müllerian duct syndrome	semapv:ManualMappingCuration
MONDO:0009858	Pfeiffer-Palm-Teller syndrome	oboInOwl:hasDbXref	Orphanet:2871	Pfeiffer-Palm-Teller syndrome	semapv:ManualMappingCuration
MONDO:0009859	PHAVER syndrome	oboInOwl:hasDbXref	Orphanet:2876	PHAVER syndrome	semapv:ManualMappingCuration
MONDO:0009861	phenylketonuria	oboInOwl:hasDbXref	Orphanet:716	Phenylketonuria	semapv:ManualMappingCuration
MONDO:0009862	dihydropteridine reductase deficiency	oboInOwl:hasDbXref	Orphanet:226	Dihydropteridine reductase deficiency	semapv:ManualMappingCuration
MONDO:0009863	BH4-deficient hyperphenylalaninemia A	oboInOwl:hasDbXref	Orphanet:13	6-pyruvoyl-tetrahydropterin synthase deficiency	semapv:ManualMappingCuration
MONDO:0009864	phosphoenolpyruvate carboxykinase deficiency, mitochondrial	oboInOwl:hasDbXref	Orphanet:79317	OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency	semapv:ManualMappingCuration
MONDO:0009865	glycogen storage disease due to phosphoglycerate mutase deficiency	oboInOwl:hasDbXref	Orphanet:97234	Glycogen storage disease due to phosphoglycerate mutase deficiency	semapv:ManualMappingCuration
MONDO:0009866	phosphoenolpyruvate carboxykinase deficiency, cytosolic	oboInOwl:hasDbXref	Orphanet:79316	OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency	semapv:ManualMappingCuration
MONDO:0009867	lethal congenital glycogen storage disease of heart	oboInOwl:hasDbXref	Orphanet:439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	semapv:ManualMappingCuration
MONDO:0009868	glycogen storage disease IXb	oboInOwl:hasDbXref	Orphanet:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	semapv:ManualMappingCuration
MONDO:0009869	isolated Pierre-Robin syndrome	oboInOwl:hasDbXref	Orphanet:718	Isolated Pierre Robin sequence	semapv:ManualMappingCuration
MONDO:0009870	pili torti	oboInOwl:hasDbXref	Orphanet:2889	Pili torti	semapv:ManualMappingCuration
MONDO:0009871	pili torti-developmental delay-neurological abnormalities syndrome	oboInOwl:hasDbXref	Orphanet:2891	Pili torti-developmental delay-neurological abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0009872	Bjornstad syndrome	oboInOwl:hasDbXref	Orphanet:123	Björnstad syndrome	semapv:ManualMappingCuration
MONDO:0009873	pilodental dysplasia-refractive errors syndrome	oboInOwl:hasDbXref	Orphanet:2892	Pilodental dysplasia-refractive errors syndrome	semapv:ManualMappingCuration
MONDO:0009874	Rabson-Mendenhall syndrome	oboInOwl:hasDbXref	Orphanet:769	Rabson-Mendenhall syndrome	semapv:ManualMappingCuration
MONDO:0009876	isolated growth hormone deficiency type IA	oboInOwl:hasDbXref	Orphanet:231662	Isolated growth hormone deficiency type IA	semapv:ManualMappingCuration
MONDO:0009877	Laron syndrome	oboInOwl:hasDbXref	Orphanet:633	Laron syndrome	semapv:ManualMappingCuration
MONDO:0009879	short stature due to growth hormone qualitative anomaly	oboInOwl:hasDbXref	Orphanet:629	Short stature due to growth hormone qualitative anomaly	semapv:ManualMappingCuration
MONDO:0009880	short stature-pituitary and cerebellar defects-small sella turcica syndrome	oboInOwl:hasDbXref	Orphanet:85442	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	semapv:ManualMappingCuration
MONDO:0009883	alpha-2-plasmin inhibitor deficiency	oboInOwl:hasDbXref	Orphanet:79	Congenital alpha2-antiplasmin deficiency	semapv:ManualMappingCuration
MONDO:0009885	Scott syndrome	oboInOwl:hasDbXref	Orphanet:806	Scott syndrome	semapv:ManualMappingCuration
MONDO:0009887	desquamative interstitial pneumonia	oboInOwl:hasDbXref	Orphanet:98852	Desquamative interstitial pneumonia	semapv:ManualMappingCuration
MONDO:0009889	autosomal recessive polycystic kidney disease	oboInOwl:hasDbXref	Orphanet:731	Autosomal recessive polycystic kidney disease	semapv:ManualMappingCuration
MONDO:0009891	acquired polycythemia vera	oboInOwl:hasDbXref	Orphanet:729	Polycythemia vera	semapv:ManualMappingCuration
MONDO:0009892	Chuvash polycythemia	oboInOwl:hasDbXref	Orphanet:238557	Chuvash erythrocytosis	semapv:ManualMappingCuration
MONDO:0009895	postaxial polydactyly-dental and vertebral anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2916	Postaxial polydactyly-dental and vertebral anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009897	adult polyglucosan body disease	oboInOwl:hasDbXref	Orphanet:206583	Adult polyglucosan body disease	semapv:ManualMappingCuration
MONDO:0009900	polysyndactyly-cardiac malformation syndrome	oboInOwl:hasDbXref	Orphanet:2934	Polysyndactyly-cardiac malformation syndrome	semapv:ManualMappingCuration
MONDO:0009901	Bartsocas-Papas syndrome 1	oboInOwl:hasDbXref	Orphanet:1234	Bartsocas-Papas syndrome	semapv:ManualMappingCuration
MONDO:0009902	cutaneous porphyria	oboInOwl:hasDbXref	Orphanet:79277	Congenital erythropoietic porphyria	semapv:ManualMappingCuration
MONDO:0009903	postaxial acrofacial dysostosis	oboInOwl:hasDbXref	Orphanet:246	Postaxial acrofacial dysostosis	semapv:ManualMappingCuration
MONDO:0009904	Gitelman syndrome	oboInOwl:hasDbXref	Orphanet:358	Gitelman syndrome	semapv:ManualMappingCuration
MONDO:0009905	urban-Rogers-Meyer syndrome	oboInOwl:hasDbXref	Orphanet:3409	Urban-Rogers-Meyer syndrome	semapv:ManualMappingCuration
MONDO:0009908	pterin-4 alpha-carbinolamine dehydratase 1 deficiency	oboInOwl:hasDbXref	Orphanet:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	semapv:ManualMappingCuration
MONDO:0009910	Wiedemann-Rautenstrauch syndrome	oboInOwl:hasDbXref	Orphanet:3455	Wiedemann-Rautenstrauch syndrome	semapv:ManualMappingCuration
MONDO:0009914	pseudodiastrophic dysplasia	oboInOwl:hasDbXref	Orphanet:85174	Pseudodiastrophic dysplasia	semapv:ManualMappingCuration
MONDO:0009915	46,XX disorder of sex development-skeletal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2975	46,XX difference of sex development-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0009916	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	oboInOwl:hasDbXref	Orphanet:752	46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	semapv:ManualMappingCuration
MONDO:0009917	pseudohypoaldosteronism, type IB1, autosomal recessive	oboInOwl:hasDbXref	Orphanet:171876	Generalized pseudohypoaldosteronism type 1	semapv:ManualMappingCuration
MONDO:0009919	peroxisomal acyl-CoA oxidase deficiency	oboInOwl:hasDbXref	Orphanet:2971	Peroxisomal acyl-CoA oxidase deficiency	semapv:ManualMappingCuration
MONDO:0009920	Acrootoocular syndrome	oboInOwl:hasDbXref	Orphanet:2980	Acrootoocular syndrome	semapv:ManualMappingCuration
MONDO:0009921	holoprosencephaly-postaxial polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:2166	Holoprosencephaly-postaxial polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0009923	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	oboInOwl:hasDbXref	Orphanet:753	46,XY difference of sex development due to 5-alpha-reductase 2 deficiency	semapv:ManualMappingCuration
MONDO:0009924	vitamin D-dependent rickets, type 1	oboInOwl:hasDbXref	Orphanet:289157	Hypocalcemic vitamin D-dependent rickets	semapv:ManualMappingCuration
MONDO:0009925	autosomal recessive inherited pseudoxanthoma elasticum	oboInOwl:hasDbXref	Orphanet:758	Pseudoxanthoma elasticum	semapv:ManualMappingCuration
MONDO:0009926	autosomal recessive multiple pterygium syndrome	oboInOwl:hasDbXref	Orphanet:2990	Autosomal recessive multiple pterygium syndrome	semapv:ManualMappingCuration
MONDO:0009927	3MC syndrome 2	oboInOwl:hasDbXref	Orphanet:2998	Carnevale syndrome	semapv:ManualMappingCuration
MONDO:0009928	pulmonary alveolar microlithiasis	oboInOwl:hasDbXref	Orphanet:60025	Pulmonary alveolar microlithiasis	semapv:ManualMappingCuration
MONDO:0009929	surfactant metabolism dysfunction, pulmonary, 1	oboInOwl:hasDbXref	Orphanet:217563	Neonatal acute respiratory distress syndrome	semapv:ManualMappingCuration
MONDO:0009930	obsolete pulmonary arteriovenous malformation	oboInOwl:hasDbXref	Orphanet:2038	Pulmonary arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0009931	pulmonary atresia-intact ventricular septum syndrome	oboInOwl:hasDbXref	Orphanet:1208	Pulmonary atresia-intact ventricular septum syndrome	semapv:ManualMappingCuration
MONDO:0009933	congenital pulmonary lymphangiectasia	oboInOwl:hasDbXref	Orphanet:2414	Congenital pulmonary lymphangiectasia	semapv:ManualMappingCuration
MONDO:0009934	alveolar capillary dysplasia with misalignment of pulmonary veins	oboInOwl:hasDbXref	Orphanet:210122	Congenital alveolar capillary dysplasia	semapv:ManualMappingCuration
MONDO:0009936	familial primary pulmonary hypoplasia	oboInOwl:hasDbXref	Orphanet:2257	Primary pulmonary hypoplasia	semapv:ManualMappingCuration
MONDO:0009937	pulmonary venoocclusive disease	oboInOwl:hasDbXref	Orphanet:31837	Pulmonary venoocclusive disease	semapv:ManualMappingCuration
MONDO:0009940	pycnodysostosis	oboInOwl:hasDbXref	Orphanet:763	Pycnodysostosis	semapv:ManualMappingCuration
MONDO:0009942	pyknoachondrogenesis	oboInOwl:hasDbXref	Orphanet:3003	Pyknoachondrogenesis	semapv:ManualMappingCuration
MONDO:0009943	Pyle disease	oboInOwl:hasDbXref	Orphanet:3005	Pyle disease	semapv:ManualMappingCuration
MONDO:0009945	pyridoxine-dependent epilepsy	oboInOwl:hasDbXref	Orphanet:3006	Pyridoxine-dependent epilepsy	semapv:ManualMappingCuration
MONDO:0009946	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	oboInOwl:hasDbXref	Orphanet:35120	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	semapv:ManualMappingCuration
MONDO:0009947	glutathione synthetase deficiency with 5-oxoprolinuria	oboInOwl:hasDbXref	Orphanet:289846	Glutathione synthetase deficiency with 5-oxoprolinuria	semapv:ManualMappingCuration
MONDO:0009948	pyropoikilocytosis, hereditary	oboInOwl:hasDbXref	Orphanet:98867	Hereditary pyropoikilocytosis	semapv:ManualMappingCuration
MONDO:0009949	pyruvate carboxylase deficiency disease	oboInOwl:hasDbXref	Orphanet:3008	Pyruvate carboxylase deficiency	semapv:ManualMappingCuration
MONDO:0009950	pyruvate kinase deficiency of red cells	oboInOwl:hasDbXref	Orphanet:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	semapv:ManualMappingCuration
MONDO:0009952	radioulnar synostosis-developmental delay-hypotonia syndrome	oboInOwl:hasDbXref	Orphanet:3270	Radioulnar synostosis-developmental delay-hypotonia syndrome	semapv:ManualMappingCuration
MONDO:0009953	leukocyte adhesion deficiency type II	oboInOwl:hasDbXref	Orphanet:99843	Leukocyte adhesion deficiency type II	semapv:ManualMappingCuration
MONDO:0009954	Ramon syndrome	oboInOwl:hasDbXref	Orphanet:3019	Ramon syndrome	semapv:ManualMappingCuration
MONDO:0009955	rapadilino syndrome	oboInOwl:hasDbXref	Orphanet:3021	RAPADILINO syndrome	semapv:ManualMappingCuration
MONDO:0009958	adult Refsum disease	oboInOwl:hasDbXref	Orphanet:773	Refsum disease	semapv:ManualMappingCuration
MONDO:0009963	Ulbright-Hodes syndrome	oboInOwl:hasDbXref	Orphanet:3404	Ulbright-Hodes syndrome	semapv:ManualMappingCuration
MONDO:0009964	short-rib thoracic dysplasia 9 with or without polydactyly	oboInOwl:hasDbXref	Orphanet:140969	Saldino-Mainzer syndrome	semapv:ManualMappingCuration
MONDO:0009965	Perlman syndrome	oboInOwl:hasDbXref	Orphanet:2849	Perlman syndrome	semapv:ManualMappingCuration
MONDO:0009966	NPHP3-related Meckel-like syndrome	oboInOwl:hasDbXref	Orphanet:3032	NPHP3-related Meckel-like syndrome	semapv:ManualMappingCuration
MONDO:0009968	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:93611	Autosomal recessive distal renal tubular acidosis with deafness	semapv:ManualMappingCuration
MONDO:0009969	renal-genital-middle ear anomalies	oboInOwl:hasDbXref	Orphanet:1092	Renal-genital-middle ear anomalies	semapv:ManualMappingCuration
MONDO:0009970	renal tubular dysgenesis of genetic origin	oboInOwl:hasDbXref	Orphanet:97369	Renal tubular dysgenesis of genetic origin	semapv:ManualMappingCuration
MONDO:0009971	respiratory distress syndrome in premature infants	oboInOwl:hasDbXref	Orphanet:70587	Infant acute respiratory distress syndrome	semapv:ManualMappingCuration
MONDO:0009973	reticular dysgenesis	oboInOwl:hasDbXref	Orphanet:33355	Reticular dysgenesis	semapv:ManualMappingCuration
MONDO:0009975	reticulum cell sarcoma	oboInOwl:hasDbXref	Orphanet:86900	Interdigitating dendritic cell sarcoma	semapv:ManualMappingCuration
MONDO:0009978	retinal degeneration-nanophthalmos-glaucoma syndrome	oboInOwl:hasDbXref	Orphanet:1574	Retinal degeneration-nanophthalmos-glaucoma syndrome	semapv:ManualMappingCuration
MONDO:0009979	reticular dystrophy of the retinal pigment epithelium	oboInOwl:hasDbXref	Orphanet:99002	Reticular dystrophy of the retinal pigment epithelium	semapv:ManualMappingCuration
MONDO:0009983	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome	oboInOwl:hasDbXref	Orphanet:3085	Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0009985	retinohepatoendocrinologic syndrome	oboInOwl:hasDbXref	Orphanet:3087	Retinohepatoendocrinologic syndrome	semapv:ManualMappingCuration
MONDO:0009986	retinopathy, pigmentary, and intellectual disability	oboInOwl:hasDbXref	Orphanet:3084	Mirhosseini-Holmes-Walton syndrome	semapv:ManualMappingCuration
MONDO:0009990	Revesz syndrome	oboInOwl:hasDbXref	Orphanet:3088	Revesz syndrome	semapv:ManualMappingCuration
MONDO:0009993	embryonal rhabdomyosarcoma	oboInOwl:hasDbXref	Orphanet:99757	Embryonal rhabdomyosarcoma	semapv:ManualMappingCuration
MONDO:0009994	alveolar rhabdomyosarcoma	oboInOwl:hasDbXref	Orphanet:99756	Alveolar rhabdomyosarcoma	semapv:ManualMappingCuration
MONDO:0009996	rhizomelic syndrome, Urbach type	oboInOwl:hasDbXref	Orphanet:3098	Rhizomelic syndrome, Urbach type	semapv:ManualMappingCuration
MONDO:0009998	Richieri Costa-Pereira syndrome	oboInOwl:hasDbXref	Orphanet:3102	Richieri Costa-Pereira syndrome	semapv:ManualMappingCuration
MONDO:0009999	autosomal recessive Robinow syndrome	oboInOwl:hasDbXref	Orphanet:1507	Autosomal recessive Robinow syndrome	semapv:ManualMappingCuration
MONDO:0010001	ectodermal dysplasia-blindness syndrome	oboInOwl:hasDbXref	Orphanet:1806	Ectodermal dysplasia-blindness syndrome	semapv:ManualMappingCuration
MONDO:0010002	Rothmund-Thomson syndrome	oboInOwl:hasDbXref	Orphanet:2909	Rothmund-Thomson syndrome	semapv:ManualMappingCuration
MONDO:0010004	EEC syndrome	oboInOwl:hasDbXref	Orphanet:1896	EEC syndrome	semapv:ManualMappingCuration
MONDO:0010005	saccharopinuria	oboInOwl:hasDbXref	Orphanet:3124	Saccharopinuria	semapv:ManualMappingCuration
MONDO:0010006	Sandhoff disease	oboInOwl:hasDbXref	Orphanet:796	Sandhoff disease	semapv:ManualMappingCuration
MONDO:0010007	microbrachycephaly-ptosis-cleft lip syndrome	oboInOwl:hasDbXref	Orphanet:2511	Microbrachycephaly-ptosis-cleft lip syndrome	semapv:ManualMappingCuration
MONDO:0010008	sarcosinemia	oboInOwl:hasDbXref	Orphanet:3129	Sarcosinemia	semapv:ManualMappingCuration
MONDO:0010010	Schinzel-Giedion syndrome	oboInOwl:hasDbXref	Orphanet:798	Schinzel-Giedion syndrome	semapv:ManualMappingCuration
MONDO:0010011	schizencephaly	oboInOwl:hasDbXref	Orphanet:799	Schizencephaly	semapv:ManualMappingCuration
MONDO:0010012	autoimmune polyendocrinopathy type 2	oboInOwl:hasDbXref	Orphanet:3143	Autoimmune polyendocrinopathy type 2	semapv:ManualMappingCuration
MONDO:0010013	schneckenbecken dysplasia	oboInOwl:hasDbXref	Orphanet:3144	Schneckenbecken dysplasia	semapv:ManualMappingCuration
MONDO:0010014	craniometadiaphyseal dysplasia, wormian bone type	oboInOwl:hasDbXref	Orphanet:85184	Craniometadiaphyseal dysplasia, wormian bone type	semapv:ManualMappingCuration
MONDO:0010015	anterior segment dysgenesis 7	oboInOwl:hasDbXref	Orphanet:289499	Congenital cataract microcornea with corneal opacity	semapv:ManualMappingCuration
MONDO:0010017	sea-blue histiocyte syndrome	oboInOwl:hasDbXref	Orphanet:158029	Sea-blue histiocytosis	semapv:ManualMappingCuration
MONDO:0010023	combined immunodeficiency due to ZAP70 deficiency	oboInOwl:hasDbXref	Orphanet:911	Combined immunodeficiency due to ZAP70 deficiency	semapv:ManualMappingCuration
MONDO:0010024	Beemer-Langer syndrome	oboInOwl:hasDbXref	Orphanet:93268	Short rib-polydactyly syndrome, Beemer-Langer type	semapv:ManualMappingCuration
MONDO:0010026	SHORT syndrome	oboInOwl:hasDbXref	Orphanet:3163	SHORT syndrome	semapv:ManualMappingCuration
MONDO:0010027	free sialic acid storage disease, infantile form	oboInOwl:hasDbXref	Orphanet:309324	Free sialic acid storage disease, infantile form	semapv:ManualMappingCuration
MONDO:0010028	sialuria	oboInOwl:hasDbXref	Orphanet:3166	Sialuria	semapv:ManualMappingCuration
MONDO:0010029	situs inversus	oboInOwl:hasDbXref	Orphanet:101063	Situs inversus totalis	semapv:ManualMappingCuration
MONDO:0010030	Sjogren syndrome	oboInOwl:hasDbXref	Orphanet:289390	Primary Sjögren syndrome	semapv:ManualMappingCuration
MONDO:0010030	Sjogren syndrome	oboInOwl:hasDbXref	Orphanet:378	NON RARE IN EUROPE: Sjögren syndrome	semapv:ManualMappingCuration
MONDO:0010031	Sjogren-Larsson syndrome	oboInOwl:hasDbXref	Orphanet:816	Sjögren-Larsson syndrome	semapv:ManualMappingCuration
MONDO:0010033	generalized peeling skin syndrome	oboInOwl:hasDbXref	Orphanet:263543	Generalized peeling skin syndrome	semapv:ManualMappingCuration
MONDO:0010035	Smith-Lemli-Opitz syndrome	oboInOwl:hasDbXref	Orphanet:818	Smith-Lemli-Opitz syndrome	semapv:ManualMappingCuration
MONDO:0010038	growth delay due to insulin-like growth factor I resistance	oboInOwl:hasDbXref	Orphanet:73273	Growth delay due to insulin-like growth factor I resistance	semapv:ManualMappingCuration
MONDO:0010039	congenital heart defect-round face-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:1355	Congenital heart defect-round face-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0010041	Charlevoix-Saguenay spastic ataxia	oboInOwl:hasDbXref	Orphanet:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	semapv:ManualMappingCuration
MONDO:0010043	hereditary spastic paraplegia 17	oboInOwl:hasDbXref	Orphanet:100998	Autosomal dominant spastic paraplegia type 17	semapv:ManualMappingCuration
MONDO:0010044	hereditary spastic paraplegia 15	oboInOwl:hasDbXref	Orphanet:100996	Autosomal recessive spastic paraplegia type 15	semapv:ManualMappingCuration
MONDO:0010045	obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome	oboInOwl:hasDbXref	Orphanet:2823	OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome	semapv:ManualMappingCuration
MONDO:0010046	hereditary spastic paraplegia 23	oboInOwl:hasDbXref	Orphanet:101003	Autosomal recessive spastic paraplegia type 23	semapv:ManualMappingCuration
MONDO:0010047	hereditary spastic paraplegia 5A	oboInOwl:hasDbXref	Orphanet:100986	Autosomal recessive spastic paraplegia type 5A	semapv:ManualMappingCuration
MONDO:0010049	spastic paraplegia-glaucoma-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2818	Spastic paraplegia-glaucoma-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010051	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:3011	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010056	spinal muscular atrophy, type IV	oboInOwl:hasDbXref	Orphanet:83420	Proximal spinal muscular atrophy type 4	semapv:ManualMappingCuration
MONDO:0010060	mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	oboInOwl:hasDbXref	Orphanet:1186	Infantile-onset spinocerebellar ataxia	semapv:ManualMappingCuration
MONDO:0010061	autosomal recessive cerebellar ataxia-blindness-deafness syndrome	oboInOwl:hasDbXref	Orphanet:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	semapv:ManualMappingCuration
MONDO:0010062	spinocerebellar ataxia-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:1185	Spinocerebellar ataxia-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0010063	corneal-cerebellar syndrome	oboInOwl:hasDbXref	Orphanet:3177	Spinocerebellar degeneration-corneal dystrophy syndrome	semapv:ManualMappingCuration
MONDO:0010064	spastic ataxia-corneal dystrophy syndrome	oboInOwl:hasDbXref	Orphanet:2572	Spastic ataxia-corneal dystrophy syndrome	semapv:ManualMappingCuration
MONDO:0010066	familial isolated congenital asplenia	oboInOwl:hasDbXref	Orphanet:101351	Familial isolated congenital asplenia	semapv:ManualMappingCuration
MONDO:0010068	spondyloepimetaphyseal dysplasia, sponastrime type	oboInOwl:hasDbXref	Orphanet:93357	SPONASTRIME dysplasia	semapv:ManualMappingCuration
MONDO:0010069	spondylocostal dysostosis-anal and genitourinary malformations syndrome	oboInOwl:hasDbXref	Orphanet:94095	OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome	semapv:ManualMappingCuration
MONDO:0010070	brachyolmia type 1, Hobaek type	oboInOwl:hasDbXref	Orphanet:93301	Brachyolmia type 1, Hobaek type	semapv:ManualMappingCuration
MONDO:0010073	spondyloepiphyseal dysplasia tarda, Kohn type	oboInOwl:hasDbXref	Orphanet:163665	Spondyloepiphyseal dysplasia tarda, Kohn type	semapv:ManualMappingCuration
MONDO:0010074	brachyolmia type 1, toledo type	oboInOwl:hasDbXref	Orphanet:93303	Brachyolmia type 1, Toledo type	semapv:ManualMappingCuration
MONDO:0010075	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	oboInOwl:hasDbXref	Orphanet:642099	Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type	semapv:ManualMappingCuration
MONDO:0010076	spondyloepimetaphyseal dysplasia, Irapa type	oboInOwl:hasDbXref	Orphanet:93351	Spondyloepimetaphyseal dysplasia, Irapa type	semapv:ManualMappingCuration
MONDO:0010077	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	oboInOwl:hasDbXref	Orphanet:93358	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	semapv:ManualMappingCuration
MONDO:0010078	spondyloperipheral dysplasia	oboInOwl:hasDbXref	Orphanet:1856	Spondyloperipheral dysplasia-short ulna syndrome	semapv:ManualMappingCuration
MONDO:0010079	Canavan disease	oboInOwl:hasDbXref	Orphanet:141	Canavan disease	semapv:ManualMappingCuration
MONDO:0010080	familial infantile bilateral striatal necrosis	oboInOwl:hasDbXref	Orphanet:225154	Familial infantile bilateral striatal necrosis	semapv:ManualMappingCuration
MONDO:0010082	subaortic stenosis-short stature syndrome	oboInOwl:hasDbXref	Orphanet:3191	Subaortic stenosis-short stature syndrome	semapv:ManualMappingCuration
MONDO:0010083	succinic semialdehyde dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:22	Succinic semialdehyde dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0010085	Schilder disease	oboInOwl:hasDbXref	Orphanet:59298	Schilder disease	semapv:ManualMappingCuration
MONDO:0010087	Sugarman brachydactyly	oboInOwl:hasDbXref	Orphanet:498602	Sugarman brachydactyly	semapv:ManualMappingCuration
MONDO:0010088	mucosulfatidosis	oboInOwl:hasDbXref	Orphanet:585	Multiple sulfatase deficiency	semapv:ManualMappingCuration
MONDO:0010089	isolated sulfite oxidase deficiency	oboInOwl:hasDbXref	Orphanet:99731	Isolated sulfite oxidase deficiency	semapv:ManualMappingCuration
MONDO:0010090	Summitt syndrome	oboInOwl:hasDbXref	Orphanet:3210	Summitt syndrome	semapv:ManualMappingCuration
MONDO:0010091	Cold-induced sweating syndrome 1	oboInOwl:hasDbXref	Orphanet:1545	Crisponi syndrome	semapv:ManualMappingCuration
MONDO:0010092	Filippi syndrome	oboInOwl:hasDbXref	Orphanet:3255	Filippi syndrome	semapv:ManualMappingCuration
MONDO:0010093	syndesmodysplasic dwarfism	oboInOwl:hasDbXref	Orphanet:2654	Syndesmodysplasic dwarfism	semapv:ManualMappingCuration
MONDO:0010094	spondylocarpotarsal synostosis syndrome	oboInOwl:hasDbXref	Orphanet:3275	Spondylocarpotarsal synostosis	semapv:ManualMappingCuration
MONDO:0010095	ataxia-tapetoretinal degeneration syndrome	oboInOwl:hasDbXref	Orphanet:1178	Ataxia-tapetoretinal degeneration syndrome	semapv:ManualMappingCuration
MONDO:0010098	taurodontism	oboInOwl:hasDbXref	Orphanet:3289	NON RARE IN EUROPE: Taurodontism	semapv:ManualMappingCuration
MONDO:0010099	Tay-Sachs disease AB variant	oboInOwl:hasDbXref	Orphanet:309246	GM2 gangliosidosis, AB variant	semapv:ManualMappingCuration
MONDO:0010100	Tay-Sachs disease	oboInOwl:hasDbXref	Orphanet:845	Tay-Sachs disease	semapv:ManualMappingCuration
MONDO:0010101	Teebi-Shaltout syndrome	oboInOwl:hasDbXref	Orphanet:3291	Teebi-Shaltout syndrome	semapv:ManualMappingCuration
MONDO:0010102	taurodontia-absent teeth-sparse hair syndrome	oboInOwl:hasDbXref	Orphanet:2731	Taurodontia-absent teeth-sparse hair syndrome	semapv:ManualMappingCuration
MONDO:0010104	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	oboInOwl:hasDbXref	Orphanet:2972	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	semapv:ManualMappingCuration
MONDO:0010108	testicular germ cell tumor	oboInOwl:hasDbXref	Orphanet:363504	Germ cell tumor of testis	semapv:ManualMappingCuration
MONDO:0010110	tetraamelia-multiple malformations syndrome	oboInOwl:hasDbXref	Orphanet:3301	Tetraamelia-multiple malformations syndrome	semapv:ManualMappingCuration
MONDO:0010111	odontotrichomelic syndrome	oboInOwl:hasDbXref	Orphanet:2723	Odontotrichomelic syndrome	semapv:ManualMappingCuration
MONDO:0010112	thalamic degeneration, symmetric infantile	oboInOwl:hasDbXref	Orphanet:3311	OBSOLETE: Infantile symmetrical thalamic degeneration	semapv:ManualMappingCuration
MONDO:0010114	thanatophoric dysplasia, Glasgow variant	oboInOwl:hasDbXref	Orphanet:93275	Thanatophoric dysplasia, Glasgow variant	semapv:ManualMappingCuration
MONDO:0010115	thoracic dysplasia-hydrocephalus syndrome	oboInOwl:hasDbXref	Orphanet:1861	Thoracic dysplasia-hydrocephalus syndrome	semapv:ManualMappingCuration
MONDO:0010116	thoracomelic dysplasia	oboInOwl:hasDbXref	Orphanet:1803	Thoracomelic dysplasia	semapv:ManualMappingCuration
MONDO:0010121	thrombocytopenia-absent radius syndrome	oboInOwl:hasDbXref	Orphanet:3320	Thrombocytopenia-absent radius syndrome	semapv:ManualMappingCuration
MONDO:0010122	congenital thrombotic thrombocytopenic purpura	oboInOwl:hasDbXref	Orphanet:93583	Congenital thrombotic thrombocytopenic purpura	semapv:ManualMappingCuration
MONDO:0010123	obsolete absent thumb-short stature-immunodeficiency syndrome	oboInOwl:hasDbXref	Orphanet:2951	Absent thumb-short stature-immunodeficiency syndrome	semapv:ManualMappingCuration
MONDO:0010125	upper limb defect-eye and ear abnormalities syndrome	oboInOwl:hasDbXref	Orphanet:2489	Upper limb defect-eye and ear abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0010128	thyrocerebrorenal syndrome	oboInOwl:hasDbXref	Orphanet:3327	Thyrocerebrorenal syndrome	semapv:ManualMappingCuration
MONDO:0010129	thymic-renal-anal-lung dysplasia	oboInOwl:hasDbXref	Orphanet:3326	Thymic-renal-anal-lung dysplasia	semapv:ManualMappingCuration
MONDO:0010130	dihydropyrimidine dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:1675	Dihydropyrimidine dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0010132	familial thyroid dyshormonogenesis	oboInOwl:hasDbXref	Orphanet:95716	Familial thyroid dyshormonogenesis	semapv:ManualMappingCuration
MONDO:0010134	Pendred syndrome	oboInOwl:hasDbXref	Orphanet:705	Pendred syndrome	semapv:ManualMappingCuration
MONDO:0010139	isolated thyroid-stimulating hormone deficiency	oboInOwl:hasDbXref	Orphanet:90674	Isolated thyroid-stimulating hormone deficiency	semapv:ManualMappingCuration
MONDO:0010140	isolated thyrotropin-releasing hormone deficiency	oboInOwl:hasDbXref	Orphanet:238670	Isolated thyrotropin-releasing hormone deficiency	semapv:ManualMappingCuration
MONDO:0010142	hypothyroidism due to TSH receptor mutations	oboInOwl:hasDbXref	Orphanet:90673	Hypothyroidism due to TSH receptor mutations	semapv:ManualMappingCuration
MONDO:0010144	tibial hemimelia	oboInOwl:hasDbXref	Orphanet:93322	Isolated tibial hemimelia	semapv:ManualMappingCuration
MONDO:0010146	Kerion celsi	oboInOwl:hasDbXref	Orphanet:499	Kerion celsi	semapv:ManualMappingCuration
MONDO:0010148	Mounier-Kuhn syndrome	oboInOwl:hasDbXref	Orphanet:3347	Mounier-Kühn syndrome	semapv:ManualMappingCuration
MONDO:0010149	transcobalamin II deficiency	oboInOwl:hasDbXref	Orphanet:859	Transcobalamin deficiency	semapv:ManualMappingCuration
MONDO:0010150	head and neck squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:67037	OBSOLETE: Squamous cell carcinoma of head and neck	semapv:ManualMappingCuration
MONDO:0010152	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	oboInOwl:hasDbXref	Orphanet:3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	semapv:ManualMappingCuration
MONDO:0010153	trichoodontoonychial dysplasia	oboInOwl:hasDbXref	Orphanet:3355	Trichoodontoonychial dysplasia	semapv:ManualMappingCuration
MONDO:0010154	trigonocephaly-bifid nose-acral anomalies syndrome	oboInOwl:hasDbXref	Orphanet:3368	Trigonocephaly-bifid nose-acral anomalies syndrome	semapv:ManualMappingCuration
MONDO:0010155	Dorfman-Chanarin disease	oboInOwl:hasDbXref	Orphanet:98907	Neutral lipid storage disease with ichthyosis	semapv:ManualMappingCuration
MONDO:0010156	Troyer syndrome	oboInOwl:hasDbXref	Orphanet:101000	Autosomal recessive spastic paraplegia type 20	semapv:ManualMappingCuration
MONDO:0010160	tyrosinemia type II	oboInOwl:hasDbXref	Orphanet:28378	Tyrosinemia type 2	semapv:ManualMappingCuration
MONDO:0010161	tyrosinemia type I	oboInOwl:hasDbXref	Orphanet:882	Tyrosinemia type 1	semapv:ManualMappingCuration
MONDO:0010162	tyrosinemia type III	oboInOwl:hasDbXref	Orphanet:69723	Tyrosinemia type 3	semapv:ManualMappingCuration
MONDO:0010164	phocomelia, Schinzel type	oboInOwl:hasDbXref	Orphanet:2879	Phocomelia, Schinzel type	semapv:ManualMappingCuration
MONDO:0010165	ulna hypoplasia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2249	Ulna hypoplasia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010167	urocanic aciduria	oboInOwl:hasDbXref	Orphanet:210128	Urocanic aciduria	semapv:ManualMappingCuration
MONDO:0010168	Usher syndrome type 1	oboInOwl:hasDbXref	Orphanet:231169	Usher syndrome type 1	semapv:ManualMappingCuration
MONDO:0010172	VACTERL with hydrocephalus	oboInOwl:hasDbXref	Orphanet:3412	VACTERL with hydrocephalus	semapv:ManualMappingCuration
MONDO:0010173	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	oboInOwl:hasDbXref	Orphanet:247775	Mayer-Rokitansky-Küster-Hauser syndrome type 1	semapv:ManualMappingCuration
MONDO:0010176	orofaciodigital syndrome type 6	oboInOwl:hasDbXref	Orphanet:2754	Orofaciodigital syndrome type 6	semapv:ManualMappingCuration
MONDO:0010177	vascular hyalinosis	oboInOwl:hasDbXref	Orphanet:3018	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	semapv:ManualMappingCuration
MONDO:0010179	isolated right ventricular hypoplasia	oboInOwl:hasDbXref	Orphanet:439	Isolated right ventricular hypoplasia	semapv:ManualMappingCuration
MONDO:0010180	autosomal recessive spondylocostal dysostosis	oboInOwl:hasDbXref	Orphanet:2311	Autosomal recessive spondylocostal dysostosis	semapv:ManualMappingCuration
MONDO:0010181	oculogastrointestinal muscular dystrophy	oboInOwl:hasDbXref	Orphanet:1876	Oculogastrointestinal muscular dystrophy	semapv:ManualMappingCuration
MONDO:0010183	methylmalonic aciduria and homocystinuria type cblF	oboInOwl:hasDbXref	Orphanet:79284	Methylmalonic acidemia with homocystinuria type cblF	semapv:ManualMappingCuration
MONDO:0010184	methylmalonic aciduria and homocystinuria type cblC	oboInOwl:hasDbXref	Orphanet:79282	Methylmalonic acidemia with homocystinuria, type cblC	semapv:ManualMappingCuration
MONDO:0010185	methylmalonic aciduria and homocystinuria type cblD	oboInOwl:hasDbXref	Orphanet:79283	Methylmalonic acidemia with homocystinuria, type cblD	semapv:ManualMappingCuration
MONDO:0010188	familial isolated deficiency of vitamin E	oboInOwl:hasDbXref	Orphanet:96	Ataxia with vitamin E deficiency	semapv:ManualMappingCuration
MONDO:0010191	von Willebrand disease 3	oboInOwl:hasDbXref	Orphanet:166096	Von Willebrand disease type 3	semapv:ManualMappingCuration
MONDO:0010193	Weaver syndrome	oboInOwl:hasDbXref	Orphanet:3447	Weaver syndrome	semapv:ManualMappingCuration
MONDO:0010196	Werner syndrome	oboInOwl:hasDbXref	Orphanet:902	Werner syndrome	semapv:ManualMappingCuration
MONDO:0010199	white forelock with malformations	oboInOwl:hasDbXref	Orphanet:2475	White forelock with malformations	semapv:ManualMappingCuration
MONDO:0010200	Wilson disease	oboInOwl:hasDbXref	Orphanet:905	Wilson disease	semapv:ManualMappingCuration
MONDO:0010203	intellectual disability, Wolff type	oboInOwl:hasDbXref	Orphanet:3080	Intellectual disability, Wolff type	semapv:ManualMappingCuration
MONDO:0010207	wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	oboInOwl:hasDbXref	Orphanet:1409	Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	semapv:ManualMappingCuration
MONDO:0010208	wrinkly skin syndrome	oboInOwl:hasDbXref	Orphanet:2834	Wrinkly skin syndrome	semapv:ManualMappingCuration
MONDO:0010209	xanthinuria type I	oboInOwl:hasDbXref	Orphanet:93601	Xanthinuria type I	semapv:ManualMappingCuration
MONDO:0010210	xeroderma pigmentosum group A	oboInOwl:hasDbXref	Orphanet:276249	OBSOLETE: Xeroderma pigmentosum complementation group A	semapv:ManualMappingCuration
MONDO:0010211	xeroderma pigmentosum group C	oboInOwl:hasDbXref	Orphanet:276255	OBSOLETE: Xeroderma pigmentosum complementation group C	semapv:ManualMappingCuration
MONDO:0010212	xeroderma pigmentosum group D	oboInOwl:hasDbXref	Orphanet:276258	OBSOLETE: Xeroderma pigmentosum complementation group D	semapv:ManualMappingCuration
MONDO:0010213	xeroderma pigmentosum group E	oboInOwl:hasDbXref	Orphanet:276261	OBSOLETE: Xeroderma pigmentosum complementation group E	semapv:ManualMappingCuration
MONDO:0010214	xeroderma pigmentosum variant type	oboInOwl:hasDbXref	Orphanet:90342	Xeroderma pigmentosum variant	semapv:ManualMappingCuration
MONDO:0010215	xeroderma pigmentosum group F	oboInOwl:hasDbXref	Orphanet:276264	OBSOLETE: Xeroderma pigmentosum complementation group F	semapv:ManualMappingCuration
MONDO:0010216	xeroderma pigmentosum group G	oboInOwl:hasDbXref	Orphanet:276267	OBSOLETE: Xeroderma pigmentosum complementation group G	semapv:ManualMappingCuration
MONDO:0010217	de Sanctis-Cacchione syndrome	oboInOwl:hasDbXref	Orphanet:1569	De Sanctis-Cacchione syndrome	semapv:ManualMappingCuration
MONDO:0010220	Young syndrome	oboInOwl:hasDbXref	Orphanet:3471	Young syndrome	semapv:ManualMappingCuration
MONDO:0010221	CHIME syndrome	oboInOwl:hasDbXref	Orphanet:3474	CHIME syndrome	semapv:ManualMappingCuration
MONDO:0010222	X-linked Opitz G/BBB syndrome	oboInOwl:hasDbXref	Orphanet:306597	OBSOLETE: X-linked Opitz G/BBB syndrome	semapv:ManualMappingCuration
MONDO:0010224	corpus callosum agenesis-abnormal genitalia syndrome	oboInOwl:hasDbXref	Orphanet:2508	Corpus callosum agenesis-abnormal genitalia syndrome	semapv:ManualMappingCuration
MONDO:0010225	Dent disease type 1	oboInOwl:hasDbXref	Orphanet:93622	Dent disease type 1	semapv:ManualMappingCuration
MONDO:0010235	X-linked intellectual disability-psychosis-macroorchidism syndrome	oboInOwl:hasDbXref	Orphanet:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	semapv:ManualMappingCuration
MONDO:0010237	X-linked intellectual disability-plagiocephaly syndrome	oboInOwl:hasDbXref	Orphanet:2898	X-linked intellectual disability-plagiocephaly syndrome	semapv:ManualMappingCuration
MONDO:0010239	lissencephaly type 1 due to doublecortin gene mutation	oboInOwl:hasDbXref	Orphanet:2148	Lissencephaly type 1 due to doublecortin gene mutation	semapv:ManualMappingCuration
MONDO:0010243	X-linked immunoneurologic disorder	oboInOwl:hasDbXref	Orphanet:2571	X-linked immunoneurologic disorder	semapv:ManualMappingCuration
MONDO:0010246	developmental and epileptic encephalopathy, 9	oboInOwl:hasDbXref	Orphanet:101039	Female restricted epilepsy with intellectual disability	semapv:ManualMappingCuration
MONDO:0010247	X-linked cerebral adrenoleukodystrophy	oboInOwl:hasDbXref	Orphanet:139396	X-linked cerebral adrenoleukodystrophy	semapv:ManualMappingCuration
MONDO:0010248	X-linked spondyloepimetaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:93349	X-linked spondyloepimetaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0010250	intellectual disability, X-linked 49	oboInOwl:hasDbXref	Orphanet:485350	CLCN4-related X-linked intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010258	MEHMO syndrome	oboInOwl:hasDbXref	Orphanet:85282	MEHMO syndrome	semapv:ManualMappingCuration
MONDO:0010261	microphthalmia, syndromic 2	oboInOwl:hasDbXref	Orphanet:2712	Oculofaciocardiodental syndrome	semapv:ManualMappingCuration
MONDO:0010263	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	oboInOwl:hasDbXref	Orphanet:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	semapv:ManualMappingCuration
MONDO:0010264	X-linked adrenal hypoplasia congenita	oboInOwl:hasDbXref	Orphanet:95702	X-linked adrenal hypoplasia congenita	semapv:ManualMappingCuration
MONDO:0010265	Simpson-Golabi-Behmel syndrome type 2	oboInOwl:hasDbXref	Orphanet:79022	Simpson-Golabi-Behmel syndrome type 2	semapv:ManualMappingCuration
MONDO:0010268	X-linked lissencephaly with abnormal genitalia	oboInOwl:hasDbXref	Orphanet:452	X-linked lissencephaly with abnormal genitalia	semapv:ManualMappingCuration
MONDO:0010269	Coats disease	oboInOwl:hasDbXref	Orphanet:190	Coats disease	semapv:ManualMappingCuration
MONDO:0010270	syndromic X-linked intellectual disability 7	oboInOwl:hasDbXref	Orphanet:85274	Syndromic X-linked intellectual disability 7	semapv:ManualMappingCuration
MONDO:0010271	X-linked myotubular myopathy-abnormal genitalia syndrome	oboInOwl:hasDbXref	Orphanet:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	semapv:ManualMappingCuration
MONDO:0010275	spondyloepimetaphyseal dysplasia, Bieganski type	oboInOwl:hasDbXref	Orphanet:168448	Spondyloepimetaphyseal dysplasia, Bieganski type	semapv:ManualMappingCuration
MONDO:0010275	spondyloepimetaphyseal dysplasia, Bieganski type	oboInOwl:hasDbXref	Orphanet:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0010277	syndromic X-linked intellectual disability Shashi type	oboInOwl:hasDbXref	Orphanet:85286	X-linked intellectual disability, Shashi type	semapv:ManualMappingCuration
MONDO:0010278	Christianson syndrome	oboInOwl:hasDbXref	Orphanet:85278	Christianson syndrome	semapv:ManualMappingCuration
MONDO:0010279	terminal osseous dysplasia-pigmentary defects syndrome	oboInOwl:hasDbXref	Orphanet:88630	Terminal osseous dysplasia-pigmentary defects syndrome	semapv:ManualMappingCuration
MONDO:0010281	Danon disease	oboInOwl:hasDbXref	Orphanet:34587	Danon disease	semapv:ManualMappingCuration
MONDO:0010283	syndromic X-linked intellectual disability Lubs type	oboInOwl:hasDbXref	Orphanet:1762	Proximal Xq28 duplication syndrome	semapv:ManualMappingCuration
MONDO:0010284	Armfield syndrome	oboInOwl:hasDbXref	Orphanet:85276	X-linked intellectual disability, Armfield type	semapv:ManualMappingCuration
MONDO:0010285	syndromic X-linked intellectual disability Abidi type	oboInOwl:hasDbXref	Orphanet:85273	X-linked intellectual disability, Abidi type	semapv:ManualMappingCuration
MONDO:0010286	syndromic X-linked intellectual disability Siderius type	oboInOwl:hasDbXref	Orphanet:85287	X-linked intellectual disability, Siderius type	semapv:ManualMappingCuration
MONDO:0010287	hereditary spastic paraplegia 16	oboInOwl:hasDbXref	Orphanet:100997	X-linked spastic paraplegia type 16	semapv:ManualMappingCuration
MONDO:0010288	adrenomyodystrophy	oboInOwl:hasDbXref	Orphanet:977	Adrenomyodystrophy	semapv:ManualMappingCuration
MONDO:0010293	ectodermal dysplasia and immune deficiency	oboInOwl:hasDbXref	Orphanet:98813	Hypohidrotic ectodermal dysplasia with immunodeficiency	semapv:ManualMappingCuration
MONDO:0010294	X-linked severe congenital neutropenia	oboInOwl:hasDbXref	Orphanet:86788	X-linked severe congenital neutropenia	semapv:ManualMappingCuration
MONDO:0010295	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	oboInOwl:hasDbXref	Orphanet:69088	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	semapv:ManualMappingCuration
MONDO:0010298	Lesch-Nyhan syndrome	oboInOwl:hasDbXref	Orphanet:510	Lesch-Nyhan syndrome	semapv:ManualMappingCuration
MONDO:0010299	hypoxanthine guanine phosphoribosyltransferase partial deficiency	oboInOwl:hasDbXref	Orphanet:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	semapv:ManualMappingCuration
MONDO:0010302	Ito hypomelanosis	oboInOwl:hasDbXref	Orphanet:435	OBSOLETE: Ito hypomelanosis	semapv:ManualMappingCuration
MONDO:0010305	creatine transporter deficiency	oboInOwl:hasDbXref	Orphanet:52503	X-linked creatine transporter deficiency	semapv:ManualMappingCuration
MONDO:0010306	X-linked intellectual disability, Cabezas type	oboInOwl:hasDbXref	Orphanet:85293	X-linked intellectual disability, Cabezas type	semapv:ManualMappingCuration
MONDO:0010310	osteopathia striata with cranial sclerosis	oboInOwl:hasDbXref	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome	semapv:ManualMappingCuration
MONDO:0010311	Becker muscular dystrophy	oboInOwl:hasDbXref	Orphanet:98895	Becker muscular dystrophy	semapv:ManualMappingCuration
MONDO:0010315	T-B+ severe combined immunodeficiency due to gamma chain deficiency	oboInOwl:hasDbXref	Orphanet:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	semapv:ManualMappingCuration
MONDO:0010319	syndromic X-linked intellectual disability Hedera type	oboInOwl:hasDbXref	Orphanet:93952	X-linked intellectual disability, Hedera type	semapv:ManualMappingCuration
MONDO:0010323	Atkin-Flaitz syndrome	oboInOwl:hasDbXref	Orphanet:1193	Atkin-Flaitz syndrome	semapv:ManualMappingCuration
MONDO:0010325	X-linked intellectual disability, Stocco dos Santos type	oboInOwl:hasDbXref	Orphanet:85288	X-linked intellectual disability, Stocco Dos Santos type	semapv:ManualMappingCuration
MONDO:0010327	HSD10 mitochondrial disease	oboInOwl:hasDbXref	Orphanet:391417	HSD10 disease	semapv:ManualMappingCuration
MONDO:0010328	alpha-thalassemia-myelodysplastic syndrome	oboInOwl:hasDbXref	Orphanet:231401	Alpha-thalassemia-myelodysplastic syndrome	semapv:ManualMappingCuration
MONDO:0010330	obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0010332	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:85280	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0010333	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	oboInOwl:hasDbXref	Orphanet:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	semapv:ManualMappingCuration
MONDO:0010334	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	oboInOwl:hasDbXref	Orphanet:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	semapv:ManualMappingCuration
MONDO:0010336	orofaciodigital syndrome VIII	oboInOwl:hasDbXref	Orphanet:2755	Orofaciodigital syndrome type 8	semapv:ManualMappingCuration
MONDO:0010337	X-linked intellectual disability-cerebellar hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0010338	X-linked distal spinal muscular atrophy type 3	oboInOwl:hasDbXref	Orphanet:139557	X-linked distal spinal muscular atrophy type 3	semapv:ManualMappingCuration
MONDO:0010339	epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	oboInOwl:hasDbXref	Orphanet:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	semapv:ManualMappingCuration
MONDO:0010353	deafness-intellectual disability, Martin-Probst type syndrome	oboInOwl:hasDbXref	Orphanet:85321	Deafness-intellectual disability syndrome, Martin-Probst type	semapv:ManualMappingCuration
MONDO:0010354	Allan-Herndon-Dudley syndrome	oboInOwl:hasDbXref	Orphanet:59	Allan-Herndon-Dudley syndrome	semapv:ManualMappingCuration
MONDO:0010355	syndromic X-linked intellectual disability Claes-Jensen type	oboInOwl:hasDbXref	Orphanet:85279	KDM5C-related syndromic X-linked intellectual disability	semapv:ManualMappingCuration
MONDO:0010356	nephrogenic syndrome of inappropriate antidiuresis	oboInOwl:hasDbXref	Orphanet:93606	Nephrogenic syndrome of inappropriate antidiuresis	semapv:ManualMappingCuration
MONDO:0010359	Dent disease type 2	oboInOwl:hasDbXref	Orphanet:93623	Dent disease type 2	semapv:ManualMappingCuration
MONDO:0010362	glycogen storage disease IXd	oboInOwl:hasDbXref	Orphanet:715	Glycogen storage disease due to muscle phosphorylase kinase deficiency	semapv:ManualMappingCuration
MONDO:0010364	X-linked intellectual disability-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:85332	X-linked intellectual disability-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0010367	SHOX-related short stature	oboInOwl:hasDbXref	Orphanet:314795	SHOX-related short stature	semapv:ManualMappingCuration
MONDO:0010371	Aland island eye disease	oboInOwl:hasDbXref	Orphanet:178333	Åland Islands eye disease	semapv:ManualMappingCuration
MONDO:0010375	developmental and epileptic encephalopathy, 8	oboInOwl:hasDbXref	Orphanet:163985	Hyperekplexia-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0010378	X-linked hereditary sensory and autonomic neuropathy with hearing loss	oboInOwl:hasDbXref	Orphanet:139583	X-linked hereditary sensory and autonomic neuropathy with deafness	semapv:ManualMappingCuration
MONDO:0010379	Brunner syndrome	oboInOwl:hasDbXref	Orphanet:3057	Monoamine oxidase A deficiency	semapv:ManualMappingCuration
MONDO:0010382	fragile X-associated tremor/ataxia syndrome	oboInOwl:hasDbXref	Orphanet:93256	Fragile X-associated tremor/ataxia syndrome	semapv:ManualMappingCuration
MONDO:0010383	fragile X syndrome	oboInOwl:hasDbXref	Orphanet:908	Fragile X syndrome	semapv:ManualMappingCuration
MONDO:0010385	X-linked lymphoproliferative disease due to XIAP deficiency	oboInOwl:hasDbXref	Orphanet:538934	X-linked lymphoproliferative disease due to XIAP deficiency	semapv:ManualMappingCuration
MONDO:0010386	immunodeficiency 33	oboInOwl:hasDbXref	Orphanet:319612	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	semapv:ManualMappingCuration
MONDO:0010389	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	oboInOwl:hasDbXref	Orphanet:319623	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	semapv:ManualMappingCuration
MONDO:0010390	ocular albinism with late-onset sensorineural deafness	oboInOwl:hasDbXref	Orphanet:1000	Ocular albinism with late-onset sensorineural deafness	semapv:ManualMappingCuration
MONDO:0010392	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	oboInOwl:hasDbXref	Orphanet:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	semapv:ManualMappingCuration
MONDO:0010395	phosphoribosylpyrophosphate synthetase superactivity	oboInOwl:hasDbXref	Orphanet:3222	Phosphoribosylpyrophosphate synthetase superactivity	semapv:ManualMappingCuration
MONDO:0010396	developmental and epileptic encephalopathy, 2	oboInOwl:hasDbXref	Orphanet:505652	CDKL5-deficiency disorder	semapv:ManualMappingCuration
MONDO:0010397	severe neonatal-onset encephalopathy with microcephaly	oboInOwl:hasDbXref	Orphanet:209370	Severe neonatal-onset encephalopathy with microcephaly	semapv:ManualMappingCuration
MONDO:0010399	chromosome Xp21 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261476	Xp21 deletion syndrome	semapv:ManualMappingCuration
MONDO:0010400	X-linked scapuloperoneal muscular dystrophy	oboInOwl:hasDbXref	Orphanet:431272	X-linked scapuloperoneal muscular dystrophy	semapv:ManualMappingCuration
MONDO:0010401	X-linked myopathy with postural muscle atrophy	oboInOwl:hasDbXref	Orphanet:178461	X-linked myopathy with postural muscle atrophy	semapv:ManualMappingCuration
MONDO:0010403	albinism-hearing loss syndrome	oboInOwl:hasDbXref	Orphanet:998	Albinism-deafness syndrome	semapv:ManualMappingCuration
MONDO:0010404	X-linked non progressive cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:314978	X-linked non progressive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0010407	intellectual disability, X-linked syndromic, Turner type	oboInOwl:hasDbXref	Orphanet:3056	X-linked intellectual disability, Brooks type	semapv:ManualMappingCuration
MONDO:0010407	intellectual disability, X-linked syndromic, Turner type	oboInOwl:hasDbXref	Orphanet:85328	X-linked intellectual disability, Turner type	semapv:ManualMappingCuration
MONDO:0010408	syndactyly-telecanthus-anogenital and renal malformations syndrome	oboInOwl:hasDbXref	Orphanet:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	semapv:ManualMappingCuration
MONDO:0010409	syndromic X-linked intellectual disability Shrimpton type	oboInOwl:hasDbXref	Orphanet:85324	X-linked intellectual disability, Shrimpton type	semapv:ManualMappingCuration
MONDO:0010412	X-linked intellectual disability-craniofacioskeletal syndrome	oboInOwl:hasDbXref	Orphanet:163979	X-linked intellectual disability-craniofacioskeletal syndrome	semapv:ManualMappingCuration
MONDO:0010417	syndromic X-linked intellectual disability Najm type	oboInOwl:hasDbXref	Orphanet:163937	X-linked intellectual disability, Najm type	semapv:ManualMappingCuration
MONDO:0010418	hereditary spastic paraplegia 34	oboInOwl:hasDbXref	Orphanet:171607	X-linked spastic paraplegia type 34	semapv:ManualMappingCuration
MONDO:0010420	X-linked erythropoietic protoporphyria	oboInOwl:hasDbXref	Orphanet:443197	X-linked erythropoietic protoporphyria	semapv:ManualMappingCuration
MONDO:0010421	Bruton-type agammaglobulinemia	oboInOwl:hasDbXref	Orphanet:47	X-linked agammaglobulinemia	semapv:ManualMappingCuration
MONDO:0010425	Lisch epithelial corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98955	Lisch epithelial corneal dystrophy	semapv:ManualMappingCuration
MONDO:0010426	X-linked endothelial corneal dystrophy	oboInOwl:hasDbXref	Orphanet:293621	X-linked endothelial corneal dystrophy	semapv:ManualMappingCuration
MONDO:0010428	chromosome Xp11.23-p11.22 duplication syndrome	oboInOwl:hasDbXref	Orphanet:217377	Microduplication Xp11.22p11.23 syndrome	semapv:ManualMappingCuration
MONDO:0010434	synovial sarcoma	oboInOwl:hasDbXref	Orphanet:3273	Synovial sarcoma	semapv:ManualMappingCuration
MONDO:0010437	severe X-linked mitochondrial encephalomyopathy	oboInOwl:hasDbXref	Orphanet:238329	Severe X-linked mitochondrial encephalomyopathy	semapv:ManualMappingCuration
MONDO:0010441	CK syndrome	oboInOwl:hasDbXref	Orphanet:251383	CK syndrome	semapv:ManualMappingCuration
MONDO:0010444	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	oboInOwl:hasDbXref	Orphanet:363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	semapv:ManualMappingCuration
MONDO:0010446	X-linked cone dysfunction syndrome with myopia	oboInOwl:hasDbXref	Orphanet:90001	X-linked cone dysfunction syndrome with myopia	semapv:ManualMappingCuration
MONDO:0010448	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0010455	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	oboInOwl:hasDbXref	Orphanet:317476	XMEN	semapv:ManualMappingCuration
MONDO:0010457	Ogden syndrome	oboInOwl:hasDbXref	Orphanet:276432	Ogden syndrome	semapv:ManualMappingCuration
MONDO:0010460	syndromic X-linked intellectual disability 17	oboInOwl:hasDbXref	Orphanet:289483	Intellectual disability-alacrima-achalasia syndrome	semapv:ManualMappingCuration
MONDO:0010461	syndromic X-linked intellectual disability Nascimento type	oboInOwl:hasDbXref	Orphanet:163956	X-linked intellectual disability, Nascimento type	semapv:ManualMappingCuration
MONDO:0010463	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	oboInOwl:hasDbXref	Orphanet:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	semapv:ManualMappingCuration
MONDO:0010464	X-linked cerebral-cerebellar-coloboma syndrome syndrome	oboInOwl:hasDbXref	Orphanet:163961	X-linked cerebral-cerebellar-coloboma syndrome	semapv:ManualMappingCuration
MONDO:0010466	multiple congenital anomalies-hypotonia-seizures syndrome 2	oboInOwl:hasDbXref	Orphanet:300496	Multiple congenital anomalies-hypotonia-seizures syndrome type 2	semapv:ManualMappingCuration
MONDO:0010467	Xq27.3q28 duplication syndrome	oboInOwl:hasDbXref	Orphanet:261483	Xq27.3q28 duplication syndrome	semapv:ManualMappingCuration
MONDO:0010472	developmental and epileptic encephalopathy, 36	oboInOwl:hasDbXref	Orphanet:324422	ALG13-CDG	semapv:ManualMappingCuration
MONDO:0010473	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	oboInOwl:hasDbXref	Orphanet:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	semapv:ManualMappingCuration
MONDO:0010475	X-linked central congenital hypothyroidism with late-onset testicular enlargement	oboInOwl:hasDbXref	Orphanet:329235	X-linked central congenital hypothyroidism with late-onset testicular enlargement	semapv:ManualMappingCuration
MONDO:0010476	neurodegeneration with brain iron accumulation 5	oboInOwl:hasDbXref	Orphanet:329284	Beta-propeller protein-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0010477	blepharophimosis - intellectual disability syndrome, MKB type	oboInOwl:hasDbXref	Orphanet:293707	Blepharophimosis-intellectual disability syndrome, MKB type	semapv:ManualMappingCuration
MONDO:0010478	SLC35A2-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:356961	SLC35A2-CDG	semapv:ManualMappingCuration
MONDO:0010479	Charcot-Marie-Tooth disease X-linked dominant 6	oboInOwl:hasDbXref	Orphanet:352675	X-linked Charcot-Marie-Tooth disease type 6	semapv:ManualMappingCuration
MONDO:0010480	anemia, nonspherocytic hemolytic, due to G6PD deficiency	oboInOwl:hasDbXref	Orphanet:466026	Class I glucose-6-phosphate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0010482	X-linked parkinsonism-spasticity syndrome	oboInOwl:hasDbXref	Orphanet:363654	X-linked parkinsonism-spasticity syndrome	semapv:ManualMappingCuration
MONDO:0010483	X-linked intellectual disability, Cantagrel type	oboInOwl:hasDbXref	Orphanet:85277	X-linked intellectual disability, Cantagrel type	semapv:ManualMappingCuration
MONDO:0010485	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	oboInOwl:hasDbXref	Orphanet:431140	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	semapv:ManualMappingCuration
MONDO:0010490	SSR4-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:370927	SSR4-CDG	semapv:ManualMappingCuration
MONDO:0010491	X-linked acrogigantism due to Xq26 microduplication	oboInOwl:hasDbXref	Orphanet:448372	OBSOLETE: X-linked acrogigantism due to Xq26 microduplication	semapv:ManualMappingCuration
MONDO:0010496	X-linked intellectual disability-short stature-overweight syndrome	oboInOwl:hasDbXref	Orphanet:457240	X-linked intellectual disability-short stature-overweight syndrome	semapv:ManualMappingCuration
MONDO:0010498	MEND syndrome	oboInOwl:hasDbXref	Orphanet:401973	MEND syndrome	semapv:ManualMappingCuration
MONDO:0010501	syndromic X-linked intellectual disability 34	oboInOwl:hasDbXref	Orphanet:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	semapv:ManualMappingCuration
MONDO:0010503	Bartter disease type 5	oboInOwl:hasDbXref	Orphanet:570371	Bartter syndrome type 5	semapv:ManualMappingCuration
MONDO:0010505	intellectual disability-balding-patella luxation-acromicria syndrome	oboInOwl:hasDbXref	Orphanet:3041	Intellectual disability-balding-patella luxation-acromicria syndrome	semapv:ManualMappingCuration
MONDO:0010507	Xq25 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:521258	Xq25 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0010512	intellectual disability, X-linked, syndromic, Bain type	oboInOwl:hasDbXref	Orphanet:662198	Neurodevelopmental delay-intellectual disability-skeletal defects syndrome	semapv:ManualMappingCuration
MONDO:0010514	combined immunodeficiency due to moesin deficiency	oboInOwl:hasDbXref	Orphanet:504530	Combined immunodeficiency due to Moesin deficiency	semapv:ManualMappingCuration
MONDO:0010518	Wiskott-Aldrich syndrome	oboInOwl:hasDbXref	Orphanet:906	Wiskott-Aldrich syndrome	semapv:ManualMappingCuration
MONDO:0010519	alpha thalassemia-X-linked intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:847	X-linked alpha-thalassemia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010520	X-linked Alport syndrome	oboInOwl:hasDbXref	Orphanet:88917	X-linked Alport syndrome	semapv:ManualMappingCuration
MONDO:0010523	X-linked reticulate pigmentary disorder	oboInOwl:hasDbXref	Orphanet:85453	X-linked reticulate pigmentary disorder	semapv:ManualMappingCuration
MONDO:0010524	X-linked sideroblastic anemia with ataxia	oboInOwl:hasDbXref	Orphanet:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	semapv:ManualMappingCuration
MONDO:0010526	Fabry disease	oboInOwl:hasDbXref	Orphanet:324	Fabry disease	semapv:ManualMappingCuration
MONDO:0010529	X-linked spinocerebellar ataxia type 3	oboInOwl:hasDbXref	Orphanet:85297	X-linked spinocerebellar ataxia type 3	semapv:ManualMappingCuration
MONDO:0010531	contractures-ectodermal dysplasia-cleft lip/palate syndrome	oboInOwl:hasDbXref	Orphanet:1484	Contractures-ectodermal dysplasia-cleft lip/palate syndrome	semapv:ManualMappingCuration
MONDO:0010532	infantile-onset X-linked spinal muscular atrophy	oboInOwl:hasDbXref	Orphanet:1145	Infantile-onset X-linked spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0010533	Arts syndrome	oboInOwl:hasDbXref	Orphanet:1187	Lethal ataxia with deafness and optic atrophy	semapv:ManualMappingCuration
MONDO:0010534	X-linked spinocerebellar ataxia type 4	oboInOwl:hasDbXref	Orphanet:85292	X-linked spinocerebellar ataxia type 4	semapv:ManualMappingCuration
MONDO:0010535	Bazex-Dupre-Christol syndrome	oboInOwl:hasDbXref	Orphanet:113	Bazex-Dupré-Christol syndrome	semapv:ManualMappingCuration
MONDO:0010535	Bazex-Dupre-Christol syndrome	oboInOwl:hasDbXref	Orphanet:166113	Bazex syndrome	semapv:ManualMappingCuration
MONDO:0010537	Borjeson-Forssman-Lehmann syndrome	oboInOwl:hasDbXref	Orphanet:127	Borjeson-Forssman-Lehmann syndrome	semapv:ManualMappingCuration
MONDO:0010538	Mononen-Karnes-Senac syndrome	oboInOwl:hasDbXref	Orphanet:2565	Mononen-Karnes-Senac syndrome	semapv:ManualMappingCuration
MONDO:0010539	X-linked mandibulofacial dysostosis	oboInOwl:hasDbXref	Orphanet:1131	X-linked mandibulofacial dysostosis	semapv:ManualMappingCuration
MONDO:0010540	bullous dystrophy, macular type	oboInOwl:hasDbXref	Orphanet:1867	Hereditary bullous dystrophy, macular type	semapv:ManualMappingCuration
MONDO:0010541	X-linked calvarial hyperostosis	oboInOwl:hasDbXref	Orphanet:391327	X-linked calvarial hyperostosis	semapv:ManualMappingCuration
MONDO:0010543	Barth syndrome	oboInOwl:hasDbXref	Orphanet:111	Barth syndrome	semapv:ManualMappingCuration
MONDO:0010545	Nance-Horan syndrome	oboInOwl:hasDbXref	Orphanet:627	Nance-Horan syndrome	semapv:ManualMappingCuration
MONDO:0010547	X-linked progressive cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:1175	X-linked progressive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0010549	Charcot-Marie-Tooth disease X-linked dominant 1	oboInOwl:hasDbXref	Orphanet:101075	X-linked Charcot-Marie-Tooth disease type 1	semapv:ManualMappingCuration
MONDO:0010550	Charcot-Marie-Tooth disease X-linked recessive 2	oboInOwl:hasDbXref	Orphanet:101076	X-linked Charcot-Marie-Tooth disease type 2	semapv:ManualMappingCuration
MONDO:0010551	Charcot-Marie-Tooth disease X-linked recessive 3	oboInOwl:hasDbXref	Orphanet:101077	X-linked Charcot-Marie-Tooth disease type 3	semapv:ManualMappingCuration
MONDO:0010554	Abruzzo-Erickson syndrome	oboInOwl:hasDbXref	Orphanet:921	Abruzzo-Erickson syndrome	semapv:ManualMappingCuration
MONDO:0010555	X-linked chondrodysplasia punctata 1	oboInOwl:hasDbXref	Orphanet:79345	Brachytelephalangic chondrodysplasia punctata	semapv:ManualMappingCuration
MONDO:0010557	choroideremia	oboInOwl:hasDbXref	Orphanet:180	Choroideremia	semapv:ManualMappingCuration
MONDO:0010558	choroideremia-deafness-obesity syndrome	oboInOwl:hasDbXref	Orphanet:1435	Xq21 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0010559	MASA syndrome	oboInOwl:hasDbXref	Orphanet:2466	MASA syndrome	semapv:ManualMappingCuration
MONDO:0010560	cleft palate with or without ankyloglossia, X-linked	oboInOwl:hasDbXref	Orphanet:324601	X-linked cleft palate and ankyloglossia	semapv:ManualMappingCuration
MONDO:0010561	Coffin-Lowry syndrome	oboInOwl:hasDbXref	Orphanet:192	Coffin-Lowry syndrome	semapv:ManualMappingCuration
MONDO:0010562	colonic atresia	oboInOwl:hasDbXref	Orphanet:1198	Colonic atresia	semapv:ManualMappingCuration
MONDO:0010563	blue cone monochromacy	oboInOwl:hasDbXref	Orphanet:16	Blue cone monochromatism	semapv:ManualMappingCuration
MONDO:0010564	red-green color blindness	oboInOwl:hasDbXref	Orphanet:319698	NON RARE IN EUROPE: Partial color blindness, deutan type	semapv:ManualMappingCuration
MONDO:0010565	red color blindness	oboInOwl:hasDbXref	Orphanet:319691	NON RARE IN EUROPE: Partial color blindness, protan type	semapv:ManualMappingCuration
MONDO:0010568	Aicardi syndrome	oboInOwl:hasDbXref	Orphanet:50	Aicardi syndrome	semapv:ManualMappingCuration
MONDO:0010569	X-linked complicated corpus callosum dysgenesis	oboInOwl:hasDbXref	Orphanet:1497	X-linked complicated corpus callosum dysgenesis	semapv:ManualMappingCuration
MONDO:0010570	craniofrontonasal syndrome	oboInOwl:hasDbXref	Orphanet:1520	Craniofrontonasal dysplasia	semapv:ManualMappingCuration
MONDO:0010571	otopalatodigital syndrome type 2	oboInOwl:hasDbXref	Orphanet:90652	Otopalatodigital syndrome type 2	semapv:ManualMappingCuration
MONDO:0010572	occipital horn syndrome	oboInOwl:hasDbXref	Orphanet:198	Occipital horn syndrome	semapv:ManualMappingCuration
MONDO:0010573	cutis verticis gyrata, thyroid aplasia, and intellectual disability	oboInOwl:hasDbXref	Orphanet:79482	Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010574	syndromic X-linked intellectual disability 5	oboInOwl:hasDbXref	Orphanet:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	semapv:ManualMappingCuration
MONDO:0010574	syndromic X-linked intellectual disability 5	oboInOwl:hasDbXref	Orphanet:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	semapv:ManualMappingCuration
MONDO:0010575	deafness-hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:90646	Deafness-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0010576	X-linked mixed hearing loss with perilymphatic gusher	oboInOwl:hasDbXref	Orphanet:383	X-linked mixed deafness with perilymphatic gusher	semapv:ManualMappingCuration
MONDO:0010578	deafness dystonia syndrome	oboInOwl:hasDbXref	Orphanet:52368	Mohr-Tranebjaerg syndrome	semapv:ManualMappingCuration
MONDO:0010579	X-linked corneal dermoid	oboInOwl:hasDbXref	Orphanet:1661	X-linked corneal dermoid	semapv:ManualMappingCuration
MONDO:0010580	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	oboInOwl:hasDbXref	Orphanet:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	semapv:ManualMappingCuration
MONDO:0010585	X-linked hypohidrotic ectodermal dysplasia	oboInOwl:hasDbXref	Orphanet:181	X-linked hypohidrotic ectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0010586	X-linked Ehlers-Danlos syndrome	oboInOwl:hasDbXref	Orphanet:75497	X-linked Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0010590	FG syndrome 1	oboInOwl:hasDbXref	Orphanet:93932	FG syndrome type 1	semapv:ManualMappingCuration
MONDO:0010591	fingerprint body myopathy	oboInOwl:hasDbXref	Orphanet:97232	Fingerprint body myopathy	semapv:ManualMappingCuration
MONDO:0010592	focal dermal hypoplasia	oboInOwl:hasDbXref	Orphanet:2092	Focal dermal hypoplasia	semapv:ManualMappingCuration
MONDO:0010602	hemophilia A	oboInOwl:hasDbXref	Orphanet:98878	Hemophilia A	semapv:ManualMappingCuration
MONDO:0010604	hemophilia B	oboInOwl:hasDbXref	Orphanet:98879	Hemophilia B	semapv:ManualMappingCuration
MONDO:0010610	holoprosencephaly-hypokinesia-congenital contractures syndrome	oboInOwl:hasDbXref	Orphanet:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	semapv:ManualMappingCuration
MONDO:0010611	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	oboInOwl:hasDbXref	Orphanet:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	semapv:ManualMappingCuration
MONDO:0010612	hydrocephaly-cerebellar agenesis syndrome	oboInOwl:hasDbXref	Orphanet:1397	Hydrocephaly-cerebellar agenesis syndrome	semapv:ManualMappingCuration
MONDO:0010613	inborn glycerol kinase deficiency	oboInOwl:hasDbXref	Orphanet:308993	Glycerol kinase deficiency	semapv:ManualMappingCuration
MONDO:0010614	X-linked congenital generalized hypertrichosis	oboInOwl:hasDbXref	Orphanet:79495	X-linked congenital generalized hypertrichosis	semapv:ManualMappingCuration
MONDO:0010615	isolated growth hormone deficiency type III	oboInOwl:hasDbXref	Orphanet:231692	Isolated growth hormone deficiency type III	semapv:ManualMappingCuration
MONDO:0010617	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2234	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0010618	familial isolated hypoparathyroidism due to agenesis of parathyroid gland	oboInOwl:hasDbXref	Orphanet:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	semapv:ManualMappingCuration
MONDO:0010619	X-linked dominant hypophosphatemic rickets	oboInOwl:hasDbXref	Orphanet:89936	X-linked hypophosphatemia	semapv:ManualMappingCuration
MONDO:0010621	CHILD syndrome	oboInOwl:hasDbXref	Orphanet:139	CHILD syndrome	semapv:ManualMappingCuration
MONDO:0010622	recessive X-linked ichthyosis	oboInOwl:hasDbXref	Orphanet:461	Recessive X-linked ichthyosis	semapv:ManualMappingCuration
MONDO:0010623	ichthyosis and male hypogonadism	oboInOwl:hasDbXref	Orphanet:431	Ichthyosis-male hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0010626	hyper-IgM syndrome type 1	oboInOwl:hasDbXref	Orphanet:101088	X-linked hyper-IgM syndrome	semapv:ManualMappingCuration
MONDO:0010627	X-linked lymphoproliferative syndrome	oboInOwl:hasDbXref	Orphanet:2442	X-linked lymphoproliferative disease	semapv:ManualMappingCuration
MONDO:0010631	incontinentia pigmenti	oboInOwl:hasDbXref	Orphanet:464	Incontinentia pigmenti	semapv:ManualMappingCuration
MONDO:0010638	keratosis follicularis-dwarfism-cerebral atrophy syndrome	oboInOwl:hasDbXref	Orphanet:2339	Keratosis follicularis-dwarfism-cerebral atrophy syndrome	semapv:ManualMappingCuration
MONDO:0010639	laryngeal abductor paralysis-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2375	Laryngeal abductor paralysis-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010641	X-linked diffuse leiomyomatosis-Alport syndrome	oboInOwl:hasDbXref	Orphanet:1018	X-linked Alport syndrome-diffuse leiomyomatosis	semapv:ManualMappingCuration
MONDO:0010645	oculocerebrorenal syndrome	oboInOwl:hasDbXref	Orphanet:534	Oculocerebrorenal syndrome of Lowe	semapv:ManualMappingCuration
MONDO:0010649	isolated congenital megalocornea	oboInOwl:hasDbXref	Orphanet:91489	Isolated congenital megalocornea	semapv:ManualMappingCuration
MONDO:0010650	Melnick-Needles syndrome	oboInOwl:hasDbXref	Orphanet:2484	Melnick-Needles syndrome	semapv:ManualMappingCuration
MONDO:0010651	Menkes disease	oboInOwl:hasDbXref	Orphanet:565	Menkes disease	semapv:ManualMappingCuration
MONDO:0010652	X-linked intellectual disability-seizures-psoriasis syndrome	oboInOwl:hasDbXref	Orphanet:3052	X-linked intellectual disability-seizures-psoriasis syndrome	semapv:ManualMappingCuration
MONDO:0010653	Renpenning syndrome	oboInOwl:hasDbXref	Orphanet:3242	Renpenning syndrome	semapv:ManualMappingCuration
MONDO:0010654	Partington syndrome	oboInOwl:hasDbXref	Orphanet:94083	Partington syndrome	semapv:ManualMappingCuration
MONDO:0010655	X-linked intellectual disability with marfanoid habitus	oboInOwl:hasDbXref	Orphanet:776	Lujan-Fryns syndrome	semapv:ManualMappingCuration
MONDO:0010656	intellectual disability, X-linked 1	oboInOwl:hasDbXref	Orphanet:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	semapv:ManualMappingCuration
MONDO:0010657	methylmalonic acidemia with homocystinuria, type cblX	oboInOwl:hasDbXref	Orphanet:369962	Methylmalonic acidemia with homocystinuria, type cblX	semapv:ManualMappingCuration
MONDO:0010658	syndromic X-linked intellectual disability 12	oboInOwl:hasDbXref	Orphanet:85290	X-linked intellectual disability, Wilson type	semapv:ManualMappingCuration
MONDO:0010659	FRAXE intellectual disability	oboInOwl:hasDbXref	Orphanet:100973	FRAXE intellectual disability	semapv:ManualMappingCuration
MONDO:0010661	severe X-linked intellectual disability, Gustavson type	oboInOwl:hasDbXref	Orphanet:3078	Severe X-linked intellectual disability, Gustavson type	semapv:ManualMappingCuration
MONDO:0010662	paraplegia-intellectual disability-hyperkeratosis syndrome	oboInOwl:hasDbXref	Orphanet:2824	Paraplegia-intellectual disability-hyperkeratosis syndrome	semapv:ManualMappingCuration
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	oboInOwl:hasDbXref	Orphanet:73220	X-linked intellectual disability-hypotonic face syndrome	semapv:ManualMappingCuration
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	oboInOwl:hasDbXref	Orphanet:93970	Holmes-Gang syndrome	semapv:ManualMappingCuration
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	oboInOwl:hasDbXref	Orphanet:93971	Chudley-Lowry-Hoar syndrome	semapv:ManualMappingCuration
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	oboInOwl:hasDbXref	Orphanet:93972	Juberg-Marsidi syndrome	semapv:ManualMappingCuration
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	oboInOwl:hasDbXref	Orphanet:93973	Carpenter-Waziri syndrome	semapv:ManualMappingCuration
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	oboInOwl:hasDbXref	Orphanet:93974	Smith-Fineman-Myers syndrome	semapv:ManualMappingCuration
MONDO:0010664	syndromic X-linked intellectual disability Snyder type	oboInOwl:hasDbXref	Orphanet:3063	X-linked intellectual disability, Snyder type	semapv:ManualMappingCuration
MONDO:0010665	Wilson-Turner syndrome	oboInOwl:hasDbXref	Orphanet:3459	Wilson-Turner syndrome	semapv:ManualMappingCuration
MONDO:0010667	Prieto syndrome	oboInOwl:hasDbXref	Orphanet:2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	semapv:ManualMappingCuration
MONDO:0010668	skeletal dysplasia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1436	X-linked skeletal dysplasia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010669	syndactyly type 8	oboInOwl:hasDbXref	Orphanet:2498	Syndactyly type 8	semapv:ManualMappingCuration
MONDO:0010670	X-linked intellectual disability-spastic quadriparesis syndrome	oboInOwl:hasDbXref	Orphanet:163982	X-linked intellectual disability-spastic quadriparesis syndrome	semapv:ManualMappingCuration
MONDO:0010671	microphthalmia, syndromic 1	oboInOwl:hasDbXref	Orphanet:85275	Microphthalmia-ankyloblepharon-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010672	linear skin defects with multiple congenital anomalies	oboInOwl:hasDbXref	Orphanet:2556	Microphthalmia with linear skin defects syndrome	semapv:ManualMappingCuration
MONDO:0010674	mucopolysaccharidosis type 2	oboInOwl:hasDbXref	Orphanet:580	Mucopolysaccharidosis type 2	semapv:ManualMappingCuration
MONDO:0010674	mucopolysaccharidosis type 2	oboInOwl:hasDbXref	Orphanet:79388	Mucopolysaccharidosis with skin involvement	semapv:ManualMappingCuration
MONDO:0010679	Duchenne muscular dystrophy	oboInOwl:hasDbXref	Orphanet:98896	Duchenne muscular dystrophy	semapv:ManualMappingCuration
MONDO:0010680	X-linked Emery-Dreifuss muscular dystrophy	oboInOwl:hasDbXref	Orphanet:98863	X-linked Emery-Dreifuss muscular dystrophy	semapv:ManualMappingCuration
MONDO:0010683	X-linked myotubular myopathy	oboInOwl:hasDbXref	Orphanet:596	X-linked centronuclear myopathy	semapv:ManualMappingCuration
MONDO:0010684	X-linked myopathy with excessive autophagy	oboInOwl:hasDbXref	Orphanet:25980	X-linked myopathy with excessive autophagy	semapv:ManualMappingCuration
MONDO:0010686	N syndrome	oboInOwl:hasDbXref	Orphanet:2608	N syndrome	semapv:ManualMappingCuration
MONDO:0010689	Charcot-Marie-Tooth disease X-linked recessive 4	oboInOwl:hasDbXref	Orphanet:101078	X-linked Charcot-Marie-Tooth disease type 4	semapv:ManualMappingCuration
MONDO:0010691	Norrie disease	oboInOwl:hasDbXref	Orphanet:649	Norrie disease	semapv:ManualMappingCuration
MONDO:0010698	optic atrophy 2	oboInOwl:hasDbXref	Orphanet:98890	Early-onset X-linked optic atrophy	semapv:ManualMappingCuration
MONDO:0010699	Charcot-Marie-Tooth disease X-linked recessive 5	oboInOwl:hasDbXref	Orphanet:99014	X-linked Charcot-Marie-Tooth disease type 5	semapv:ManualMappingCuration
MONDO:0010702	orofaciodigital syndrome I	oboInOwl:hasDbXref	Orphanet:2750	Orofaciodigital syndrome type 1	semapv:ManualMappingCuration
MONDO:0010703	ornithine carbamoyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:664	Ornithine transcarbamylase deficiency	semapv:ManualMappingCuration
MONDO:0010704	otopalatodigital syndrome type 1	oboInOwl:hasDbXref	Orphanet:90650	Otopalatodigital syndrome type 1	semapv:ManualMappingCuration
MONDO:0010706	premature ovarian failure 1	oboInOwl:hasDbXref	Orphanet:642691	Fragile X-associated primary ovarian insufficiency	semapv:ManualMappingCuration
MONDO:0010708	Pallister-W syndrome	oboInOwl:hasDbXref	Orphanet:2804	W syndrome	semapv:ManualMappingCuration
MONDO:0010709	early-onset parkinsonism-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2379	Early-onset parkinsonism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010710	Pierre Robin syndrome-faciodigital anomaly syndrome	oboInOwl:hasDbXref	Orphanet:2888	Pierre Robin syndrome-faciodigital anomaly syndrome	semapv:ManualMappingCuration
MONDO:0010711	TARP syndrome	oboInOwl:hasDbXref	Orphanet:2886	TARP syndrome	semapv:ManualMappingCuration
MONDO:0010713	properdin deficiency, X-linked	oboInOwl:hasDbXref	Orphanet:2966	Properdin deficiency	semapv:ManualMappingCuration
MONDO:0010714	Pelizeaus-Merzbacher spectrum disorder	oboInOwl:hasDbXref	Orphanet:702	Pelizaeus-Merzbacher disease	semapv:ManualMappingCuration
MONDO:0010716	X-linked lethal multiple pterygium syndrome	oboInOwl:hasDbXref	Orphanet:79447	X-linked lethal multiple pterygium syndrome	semapv:ManualMappingCuration
MONDO:0010717	pyruvate dehydrogenase E1-alpha deficiency	oboInOwl:hasDbXref	Orphanet:79243	Pyruvate dehydrogenase E1-alpha deficiency	semapv:ManualMappingCuration
MONDO:0010718	absent radius-anogenital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:3016	Absent radius-anogenital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0010720	partial androgen insensitivity syndrome	oboInOwl:hasDbXref	Orphanet:90797	Partial androgen insensitivity syndrome	semapv:ManualMappingCuration
MONDO:0010722	X-linked retinal dysplasia	oboInOwl:hasDbXref	Orphanet:1852	X-linked retinal dysplasia	semapv:ManualMappingCuration
MONDO:0010725	X-linked retinoschisis	oboInOwl:hasDbXref	Orphanet:792	X-linked retinoschisis	semapv:ManualMappingCuration
MONDO:0010726	Rett syndrome	oboInOwl:hasDbXref	Orphanet:778	Rett syndrome	semapv:ManualMappingCuration
MONDO:0010728	SCARF syndrome	oboInOwl:hasDbXref	Orphanet:3134	SCARF syndrome	semapv:ManualMappingCuration
MONDO:0010729	X-linked intellectual disability, Schimke type	oboInOwl:hasDbXref	Orphanet:85285	X-linked intellectual disability, Schimke type	semapv:ManualMappingCuration
MONDO:0010731	Simpson-Golabi-Behmel syndrome	oboInOwl:hasDbXref	Orphanet:373	Simpson-Golabi-Behmel syndrome	semapv:ManualMappingCuration
MONDO:0010732	spastic paraparesis-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2815	Spastic paraparesis-deafness syndrome	semapv:ManualMappingCuration
MONDO:0010733	hereditary spastic paraplegia 2	oboInOwl:hasDbXref	Orphanet:99015	Spastic paraplegia type 2	semapv:ManualMappingCuration
MONDO:0010735	Kennedy disease	oboInOwl:hasDbXref	Orphanet:481	Kennedy disease	semapv:ManualMappingCuration
MONDO:0010738	spondylometaphyseal dysplasia, Golden type	oboInOwl:hasDbXref	Orphanet:168544	Spondylometaphyseal dysplasia, Golden type	semapv:ManualMappingCuration
MONDO:0010742	pentalogy of Cantrell	oboInOwl:hasDbXref	Orphanet:1335	Pentalogy of Cantrell	semapv:ManualMappingCuration
MONDO:0010743	thrombocytopenia 1	oboInOwl:hasDbXref	Orphanet:852	X-linked thrombocytopenia with normal platelets	semapv:ManualMappingCuration
MONDO:0010745	beta-thalassemia-X-linked thrombocytopenia syndrome	oboInOwl:hasDbXref	Orphanet:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	semapv:ManualMappingCuration
MONDO:0010747	X-linked dystonia-parkinsonism	oboInOwl:hasDbXref	Orphanet:53351	X-linked dystonia-parkinsonism	semapv:ManualMappingCuration
MONDO:0010748	torticollis-keloids-cryptorchidism-renal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:3341	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0010749	trigonocephaly-short stature-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:3369	Trigonocephaly-short stature-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0010750	ulnar hypoplasia-split foot syndrome	oboInOwl:hasDbXref	Orphanet:1122	Ulnar hypoplasia-split foot syndrome	semapv:ManualMappingCuration
MONDO:0010753	cardiac valvular dysplasia, X-linked	oboInOwl:hasDbXref	Orphanet:1864	OBSOLETE: Congenital valvular dysplasia	semapv:ManualMappingCuration
MONDO:0010753	cardiac valvular dysplasia, X-linked	oboInOwl:hasDbXref	Orphanet:555877	FLNA-related X-linked myxomatous valvular dysplasia	semapv:ManualMappingCuration
MONDO:0010754	van den Bosch syndrome	oboInOwl:hasDbXref	Orphanet:3417	Van den Bosch syndrome	semapv:ManualMappingCuration
MONDO:0010758	Wieacker-Wolff syndrome	oboInOwl:hasDbXref	Orphanet:3454	Wieacker-Wolff syndrome	semapv:ManualMappingCuration
MONDO:0010758	Wieacker-Wolff syndrome	oboInOwl:hasDbXref	Orphanet:85283	X-linked intellectual disability, Miles-Carpenter type	semapv:ManualMappingCuration
MONDO:0010759	Wildervanck syndrome	oboInOwl:hasDbXref	Orphanet:3456	Wildervanck syndrome	semapv:ManualMappingCuration
MONDO:0010765	46,XY complete gonadal dysgenesis	oboInOwl:hasDbXref	Orphanet:242	46,XY complete gonadal dysgenesis	semapv:ManualMappingCuration
MONDO:0010771	histiocytoid cardiomyopathy	oboInOwl:hasDbXref	Orphanet:137675	Histiocytoid cardiomyopathy	semapv:ManualMappingCuration
MONDO:0010773	mitochondrial myopathy with diabetes	oboInOwl:hasDbXref	Orphanet:2596	Myopathy and diabetes mellitus	semapv:ManualMappingCuration
MONDO:0010779	mitochondrial non-syndromic sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:90641	Rare mitochondrial non-syndromic sensorineural deafness	semapv:ManualMappingCuration
MONDO:0010780	mitochondrial myopathy with reversible cytochrome C oxidase deficiency	oboInOwl:hasDbXref	Orphanet:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	semapv:ManualMappingCuration
MONDO:0010785	maternally-inherited diabetes and deafness	oboInOwl:hasDbXref	Orphanet:225	NON RARE IN EUROPE: Maternally-inherited diabetes and deafness	semapv:ManualMappingCuration
MONDO:0010786	chronic diarrhea with villous atrophy	oboInOwl:hasDbXref	Orphanet:1670	Chronic diarrhea with villous atrophy	semapv:ManualMappingCuration
MONDO:0010787	Kearns-Sayre syndrome	oboInOwl:hasDbXref	Orphanet:480	Kearns-Sayre syndrome	semapv:ManualMappingCuration
MONDO:0010788	Leber hereditary optic neuropathy	oboInOwl:hasDbXref	Orphanet:104	Leber hereditary optic neuropathy	semapv:ManualMappingCuration
MONDO:0010789	MELAS syndrome	oboInOwl:hasDbXref	Orphanet:550	MELAS	semapv:ManualMappingCuration
MONDO:0010790	MERRF syndrome	oboInOwl:hasDbXref	Orphanet:551	MERRF	semapv:ManualMappingCuration
MONDO:0010792	lethal infantile mitochondrial myopathy	oboInOwl:hasDbXref	Orphanet:254857	Lethal infantile mitochondrial myopathy	semapv:ManualMappingCuration
MONDO:0010794	NARP syndrome	oboInOwl:hasDbXref	Orphanet:644	NARP syndrome	semapv:ManualMappingCuration
MONDO:0010797	Pearson syndrome	oboInOwl:hasDbXref	Orphanet:699	Pearson syndrome	semapv:ManualMappingCuration
MONDO:0010798	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	oboInOwl:hasDbXref	Orphanet:3390	Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	semapv:ManualMappingCuration
MONDO:0010799	deafness, aminoglycoside-induced	oboInOwl:hasDbXref	Orphanet:168609	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure	semapv:ManualMappingCuration
MONDO:0010801	spondylocamptodactyly syndrome	oboInOwl:hasDbXref	Orphanet:3180	Spondylocamptodactyly syndrome	semapv:ManualMappingCuration
MONDO:0010802	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	oboInOwl:hasDbXref	Orphanet:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	semapv:ManualMappingCuration
MONDO:0010803	Eiken syndrome	oboInOwl:hasDbXref	Orphanet:79106	Eiken syndrome	semapv:ManualMappingCuration
MONDO:0010805	bladder exstrophy	oboInOwl:hasDbXref	Orphanet:93930	Bladder exstrophy	semapv:ManualMappingCuration
MONDO:0010808	fatal familial insomnia	oboInOwl:hasDbXref	Orphanet:466	Fatal familial insomnia	semapv:ManualMappingCuration
MONDO:0010813	pancreatic beta cell agenesis with neonatal diabetes mellitus	oboInOwl:hasDbXref	Orphanet:28455	OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus	semapv:ManualMappingCuration
MONDO:0010814	chondrodysplasia-pseudohermaphroditism syndrome	oboInOwl:hasDbXref	Orphanet:1422	Chondrodysplasia-difference of sex development syndrome	semapv:ManualMappingCuration
MONDO:0010816	Qazi Markouizos syndrome	oboInOwl:hasDbXref	Orphanet:3010	Qazi-Markouizos syndrome	semapv:ManualMappingCuration
MONDO:0010821	familial developmental dysphasia	oboInOwl:hasDbXref	Orphanet:1799	Familial developmental dysphasia	semapv:ManualMappingCuration
MONDO:0010823	rhizomelic chondrodysplasia punctata type 3	oboInOwl:hasDbXref	Orphanet:309803	Rhizomelic chondrodysplasia punctata type 3	semapv:ManualMappingCuration
MONDO:0010824	disorder of sex development-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2983	Difference of sex development-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0010825	atrioventricular defect-blepharophimosis-radial and anal defect syndrome	oboInOwl:hasDbXref	Orphanet:1352	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome	semapv:ManualMappingCuration
MONDO:0010826	childhood absence epilepsy	oboInOwl:hasDbXref	Orphanet:64280	Childhood absence epilepsy	semapv:ManualMappingCuration
MONDO:0010829	CARASIL syndrome	oboInOwl:hasDbXref	Orphanet:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0010830	neuronal ceroid lipofuscinosis 8	oboInOwl:hasDbXref	Orphanet:228354	CLN8 disease	semapv:ManualMappingCuration
MONDO:0010831	familial caudal dysgenesis	oboInOwl:hasDbXref	Orphanet:1768	Familial caudal dysgenesis	semapv:ManualMappingCuration
MONDO:0010835	pterygium colli-intellectual disability-digital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2988	Pterygium colli-intellectual disability-digital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0010839	neuronopathy, distal hereditary motor, autosomal dominant 8	oboInOwl:hasDbXref	Orphanet:1216	Autosomal dominant congenital benign spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0010840	pachygyria-intellectual disability-epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:2798	Pachygyria-intellectual disability-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0010842	multiple cutaneous and mucosal venous malformations	oboInOwl:hasDbXref	Orphanet:2451	Mucocutaneous venous malformations	semapv:ManualMappingCuration
MONDO:0010847	spinocerebellar ataxia type 4	oboInOwl:hasDbXref	Orphanet:98765	Spinocerebellar ataxia type 4	semapv:ManualMappingCuration
MONDO:0010848	spinocerebellar ataxia type 5	oboInOwl:hasDbXref	Orphanet:98766	Spinocerebellar ataxia type 5	semapv:ManualMappingCuration
MONDO:0010849	palmoplantar keratoderma, Bothnian type	oboInOwl:hasDbXref	Orphanet:2337	Diffuse palmoplantar keratoderma, Bothnian type	semapv:ManualMappingCuration
MONDO:0010850	Tessier number 4 facial cleft	oboInOwl:hasDbXref	Orphanet:141258	Tessier number 4 facial cleft	semapv:ManualMappingCuration
MONDO:0010851	Lowry-MacLean syndrome	oboInOwl:hasDbXref	Orphanet:2409	Lowry-MacLean syndrome	semapv:ManualMappingCuration
MONDO:0010854	Toriello-Lacassie-Droste syndrome	oboInOwl:hasDbXref	Orphanet:3339	Oculoectodermal syndrome	semapv:ManualMappingCuration
MONDO:0010855	short tarsus-absence of lower eyelashes syndrome	oboInOwl:hasDbXref	Orphanet:2832	Short tarsus-absence of lower eyelashes syndrome	semapv:ManualMappingCuration
MONDO:0010856	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	oboInOwl:hasDbXref	Orphanet:88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	semapv:ManualMappingCuration
MONDO:0010857	semantic dementia	oboInOwl:hasDbXref	Orphanet:100069	Semantic dementia	semapv:ManualMappingCuration
MONDO:0010858	macrocephaly-spastic paraplegia-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:2429	Macrocephaly-spastic paraplegia-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0010865	pseudoaminopterin syndrome	oboInOwl:hasDbXref	Orphanet:221120	Pseudoaminopterin syndrome	semapv:ManualMappingCuration
MONDO:0010866	infantile osteopetrosis with neuroaxonal dysplasia	oboInOwl:hasDbXref	Orphanet:85179	Infantile osteopetrosis with neuroaxonal dysplasia	semapv:ManualMappingCuration
MONDO:0010867	PARC syndrome	oboInOwl:hasDbXref	Orphanet:2825	PARC syndrome	semapv:ManualMappingCuration
MONDO:0010870	tibial muscular dystrophy	oboInOwl:hasDbXref	Orphanet:609	Tibial muscular dystrophy	semapv:ManualMappingCuration
MONDO:0010871	succinic acidemia	oboInOwl:hasDbXref	Orphanet:936	Succinic acidemia	semapv:ManualMappingCuration
MONDO:0010876	recessive aplasia cutis congenita of limbs	oboInOwl:hasDbXref	Orphanet:1115	OBSOLETE: Recessive aplasia cutis congenita of limbs	semapv:ManualMappingCuration
MONDO:0010877	Charcot-Marie-Tooth disease type 5	oboInOwl:hasDbXref	Orphanet:64751	Hereditary motor and sensory neuropathy type 5	semapv:ManualMappingCuration
MONDO:0010878	hereditary spastic paraplegia 6	oboInOwl:hasDbXref	Orphanet:100988	Autosomal dominant spastic paraplegia type 6	semapv:ManualMappingCuration
MONDO:0010879	CODAS syndrome	oboInOwl:hasDbXref	Orphanet:1458	CODAS syndrome	semapv:ManualMappingCuration
MONDO:0010881	mesomelia-synostoses syndrome	oboInOwl:hasDbXref	Orphanet:2496	Mesomelia-synostoses syndrome	semapv:ManualMappingCuration
MONDO:0010882	aphalangy-syndactyly-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:1113	Aphalangy-syndactyly-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0010883	pectus excavatum-macrocephaly-dysplastic nails syndrome	oboInOwl:hasDbXref	Orphanet:2835	Pectus excavatum-macrocephaly-dysplastic nails syndrome	semapv:ManualMappingCuration
MONDO:0010886	2q37 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:1001	2q37 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0010887	isolated anterior cervical hypertrichosis	oboInOwl:hasDbXref	Orphanet:3387	Isolated anterior cervical hypertrichosis	semapv:ManualMappingCuration
MONDO:0010889	arterial dissection-lentiginosis syndrome	oboInOwl:hasDbXref	Orphanet:1682	Arterial dissection-lentiginosis syndrome	semapv:ManualMappingCuration
MONDO:0010890	acrocardiofacial syndrome	oboInOwl:hasDbXref	Orphanet:2008	Acrocardiofacial syndrome	semapv:ManualMappingCuration
MONDO:0010891	lethal hemolytic anemia-genital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1046	Lethal hemolytic anemia-genital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0010895	ABCD syndrome	oboInOwl:hasDbXref	Orphanet:918	ABCD syndrome	semapv:ManualMappingCuration
MONDO:0010896	pigment dispersion syndrome	oboInOwl:hasDbXref	Orphanet:26823	NON RARE IN EUROPE: Pigment-dispersion syndrome	semapv:ManualMappingCuration
MONDO:0010898	autosomal dominant epilepsy with auditory features	oboInOwl:hasDbXref	Orphanet:101046	Autosomal dominant epilepsy with auditory features	semapv:ManualMappingCuration
MONDO:0010901	HEC syndrome	oboInOwl:hasDbXref	Orphanet:2119	HEC syndrome	semapv:ManualMappingCuration
MONDO:0010902	spondyloepiphyseal dysplasia, Reardon type	oboInOwl:hasDbXref	Orphanet:163662	Spondyloepiphyseal dysplasia, Reardon type	semapv:ManualMappingCuration
MONDO:0010907	familial hypertryptophanemia	oboInOwl:hasDbXref	Orphanet:2224	Hypertryptophanemia	semapv:ManualMappingCuration
MONDO:0010908	loose anagen syndrome	oboInOwl:hasDbXref	Orphanet:168	Loose anagen syndrome	semapv:ManualMappingCuration
MONDO:0010911	prolactin-producing pituitary gland adenoma	oboInOwl:hasDbXref	Orphanet:2965	Prolactinoma	semapv:ManualMappingCuration
MONDO:0010913	Caroli disease	oboInOwl:hasDbXref	Orphanet:53035	Caroli disease	semapv:ManualMappingCuration
MONDO:0010914	carnitine palmitoyl transferase II deficiency, severe infantile form	oboInOwl:hasDbXref	Orphanet:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	semapv:ManualMappingCuration
MONDO:0010920	microtia	oboInOwl:hasDbXref	Orphanet:83463	Microtia	semapv:ManualMappingCuration
MONDO:0010921	nasal dermoid cyst	oboInOwl:hasDbXref	Orphanet:141103	Nasal dermoid cyst	semapv:ManualMappingCuration
MONDO:0010922	Satoyoshi syndrome	oboInOwl:hasDbXref	Orphanet:3130	Satoyoshi syndrome	semapv:ManualMappingCuration
MONDO:0010923	proximal myopathy with focal depletion of mitochondria	oboInOwl:hasDbXref	Orphanet:521305	Proximal myopathy with focal depletion of mitochondria	semapv:ManualMappingCuration
MONDO:0010924	D-2-hydroxyglutaric aciduria	oboInOwl:hasDbXref	Orphanet:79315	D-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration
MONDO:0010925	velo-facial-skeletal syndrome	oboInOwl:hasDbXref	Orphanet:3424	Velo-facial-skeletal syndrome	semapv:ManualMappingCuration
MONDO:0010926	familial hypocalciuric hypercalcemia 3	oboInOwl:hasDbXref	Orphanet:101050	Familial hypocalciuric hypercalcemia type 3	semapv:ManualMappingCuration
MONDO:0010930	anophthalmia plus syndrome	oboInOwl:hasDbXref	Orphanet:1104	Anophthalmia plus syndrome	semapv:ManualMappingCuration
MONDO:0010932	progressive bifocal chorioretinal atrophy	oboInOwl:hasDbXref	Orphanet:75373	Progressive bifocal chorioretinal atrophy	semapv:ManualMappingCuration
MONDO:0010938	T-B+ severe combined immunodeficiency due to JAK3 deficiency	oboInOwl:hasDbXref	Orphanet:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	semapv:ManualMappingCuration
MONDO:0010939	low phospholipid associated cholelithiasis	oboInOwl:hasDbXref	Orphanet:69663	Low phospholipid-associated cholelithiasis	semapv:ManualMappingCuration
MONDO:0010947	Budd-Chiari syndrome	oboInOwl:hasDbXref	Orphanet:131	Budd-Chiari syndrome	semapv:ManualMappingCuration
MONDO:0010949	Charcot-Marie-Tooth disease type 2B	oboInOwl:hasDbXref	Orphanet:99936	Autosomal dominant Charcot-Marie-Tooth disease type 2B	semapv:ManualMappingCuration
MONDO:0010952	hereditary hyperferritinemia with congenital cataracts	oboInOwl:hasDbXref	Orphanet:163	Hereditary hyperferritinemia-cataract syndrome	semapv:ManualMappingCuration
MONDO:0010959	van den Ende-Gupta syndrome	oboInOwl:hasDbXref	Orphanet:2460	Van den Ende-Gupta syndrome	semapv:ManualMappingCuration
MONDO:0010961	obesity due to prohormone convertase I deficiency	oboInOwl:hasDbXref	Orphanet:71528	Obesity due to prohormone convertase I deficiency	semapv:ManualMappingCuration
MONDO:0010962	diffuse nonepidermolytic palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:496	Thost-Unna palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0010962	diffuse nonepidermolytic palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:530838	KRT1-related diffuse nonepidermolytic keratoderma	semapv:ManualMappingCuration
MONDO:0010966	achondrogenesis type IB	oboInOwl:hasDbXref	Orphanet:93298	Achondrogenesis type 1B	semapv:ManualMappingCuration
MONDO:0010971	infundibulopelvic stenosis-multicystic kidney syndrome	oboInOwl:hasDbXref	Orphanet:1849	OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome	semapv:ManualMappingCuration
MONDO:0010972	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	oboInOwl:hasDbXref	Orphanet:2180	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	semapv:ManualMappingCuration
MONDO:0010976	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	oboInOwl:hasDbXref	Orphanet:89838	Autosomal recessive generalized epidermolysis bullosa simplex	semapv:ManualMappingCuration
MONDO:0010977	Brody myopathy	oboInOwl:hasDbXref	Orphanet:53347	Brody myopathy	semapv:ManualMappingCuration
MONDO:0010979	Timothy syndrome	oboInOwl:hasDbXref	Orphanet:65283	Timothy syndrome	semapv:ManualMappingCuration
MONDO:0010980	midline malformations, multiple, with limb abnormalities and hypopituitarism	oboInOwl:hasDbXref	Orphanet:1678	Dincsoy-Salih-Patel syndrome	semapv:ManualMappingCuration
MONDO:0010981	absent tibia-polydactyly-arachnoid cyst syndrome	oboInOwl:hasDbXref	Orphanet:3328	Absent tibia-polydactyly-arachnoid cyst syndrome	semapv:ManualMappingCuration
MONDO:0010983	dystonia 9	oboInOwl:hasDbXref	Orphanet:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	semapv:ManualMappingCuration
MONDO:0010988	aplasia cutis-myopia syndrome	oboInOwl:hasDbXref	Orphanet:1117	Aplasia cutis-myopia syndrome	semapv:ManualMappingCuration
MONDO:0010989	Mayer-Rokitansky-Küster-Hauser syndrome type 2	oboInOwl:hasDbXref	Orphanet:2578	Mayer-Rokitansky-Küster-Hauser syndrome type 2	semapv:ManualMappingCuration
MONDO:0010992	Ayme-Gripp syndrome	oboInOwl:hasDbXref	Orphanet:477668	OBSOLETE: AymÚ-Gripp syndrome	semapv:ManualMappingCuration
MONDO:0010993	Harrod syndrome	oboInOwl:hasDbXref	Orphanet:2115	Harrod syndrome	semapv:ManualMappingCuration
MONDO:0010994	obsolete micromelic dwarfism, Fryns type	oboInOwl:hasDbXref	Orphanet:2641	OBSOLETE: Micromelic dwarfism, Fryns type	semapv:ManualMappingCuration
MONDO:0010995	Charcot-Marie-Tooth disease type 1C	oboInOwl:hasDbXref	Orphanet:101083	Charcot-Marie-Tooth disease type 1C	semapv:ManualMappingCuration
MONDO:0010997	supranuclear palsy, progressive, 1	oboInOwl:hasDbXref	Orphanet:240071	Classic progressive supranuclear palsy syndrome	semapv:ManualMappingCuration
MONDO:0010998	ALG3-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79321	ALG3-CDG	semapv:ManualMappingCuration
MONDO:0010999	fallot complex-intellectual disability-growth delay syndrome	oboInOwl:hasDbXref	Orphanet:3304	Fallot complex-intellectual disability-growth delay syndrome	semapv:ManualMappingCuration
MONDO:0011004	lissencephaly type 3-metacarpal bone dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:86822	Lissencephaly type 3-metacarpal bone dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0011006	hereditary spastic paraplegia 9A	oboInOwl:hasDbXref	Orphanet:447753	Autosomal dominant spastic paraplegia type 9A	semapv:ManualMappingCuration
MONDO:0011007	diaphragmatic defect-limb deficiency-skull defect syndrome	oboInOwl:hasDbXref	Orphanet:2141	Diaphragmatic defect-limb deficiency-skull defect syndrome	semapv:ManualMappingCuration
MONDO:0011008	cleft lip/palate-intestinal malrotation-cardiopathy syndrome	oboInOwl:hasDbXref	Orphanet:2001	Cleft lip/palate-intestinal malrotation-cardiopathy syndrome	semapv:ManualMappingCuration
MONDO:0011010	Matthew-Wood syndrome	oboInOwl:hasDbXref	Orphanet:2470	Matthew-Wood syndrome	semapv:ManualMappingCuration
MONDO:0011011	skeletal dysplasia-epilepsy-short stature syndrome	oboInOwl:hasDbXref	Orphanet:1858	Skeletal dysplasia-epilepsy-short stature syndrome	semapv:ManualMappingCuration
MONDO:0011012	African iron overload	oboInOwl:hasDbXref	Orphanet:139507	Dietary iron overload disease	semapv:ManualMappingCuration
MONDO:0011014	pleuropulmonary blastoma	oboInOwl:hasDbXref	Orphanet:64742	Pleuropulmonary blastoma	semapv:ManualMappingCuration
MONDO:0011017	Naxos disease	oboInOwl:hasDbXref	Orphanet:34217	Naxos disease	semapv:ManualMappingCuration
MONDO:0011018	brachyolmia-amelogenesis imperfecta syndrome	oboInOwl:hasDbXref	Orphanet:2899	Brachyolmia-amelogenesis imperfecta syndrome	semapv:ManualMappingCuration
MONDO:0011019	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:1014	Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0011020	osteoporosis-oculocutaneous hypopigmentation syndrome	oboInOwl:hasDbXref	Orphanet:2786	Osteoporosis-oculocutaneous hypopigmentation syndrome	semapv:ManualMappingCuration
MONDO:0011022	Potocki-Shaffer syndrome	oboInOwl:hasDbXref	Orphanet:52022	Potocki-Shaffer syndrome	semapv:ManualMappingCuration
MONDO:0011023	hereditary mixed polyposis syndrome	oboInOwl:hasDbXref	Orphanet:157794	Hereditary mixed polyposis syndrome	semapv:ManualMappingCuration
MONDO:0011025	Cayman type cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:94122	Cerebellar ataxia, Cayman type	semapv:ManualMappingCuration
MONDO:0011028	autosomal recessive limb-girdle muscular dystrophy type 2F	oboInOwl:hasDbXref	Orphanet:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	semapv:ManualMappingCuration
MONDO:0011034	odontomicronychial dysplasia	oboInOwl:hasDbXref	Orphanet:1811	Odontomicronychial dysplasia	semapv:ManualMappingCuration
MONDO:0011035	neurofibromatosis-Noonan syndrome	oboInOwl:hasDbXref	Orphanet:638	Neurofibromatosis-Noonan syndrome	semapv:ManualMappingCuration
MONDO:0011036	porencephaly-cerebellar hypoplasia-internal malformations syndrome	oboInOwl:hasDbXref	Orphanet:2941	Porencephaly-cerebellar hypoplasia-internal malformations syndrome	semapv:ManualMappingCuration
MONDO:0011038	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	oboInOwl:hasDbXref	Orphanet:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	semapv:ManualMappingCuration
MONDO:0011041	ectodermal dysplasia with natal teeth, Turnpenny type	oboInOwl:hasDbXref	Orphanet:69083	Ectodermal dysplasia with natal teeth, Turnpenny type	semapv:ManualMappingCuration
MONDO:0011042	Martinez-Frias syndrome	oboInOwl:hasDbXref	Orphanet:137862	Martínez-Frías syndrome	semapv:ManualMappingCuration
MONDO:0011045	MMEP syndrome	oboInOwl:hasDbXref	Orphanet:3434	MMEP syndrome	semapv:ManualMappingCuration
MONDO:0011046	short stature, Brussels type	oboInOwl:hasDbXref	Orphanet:2867	Short stature, Brussels type	semapv:ManualMappingCuration
MONDO:0011047	deafness-epiphyseal dysplasia-short stature syndrome	oboInOwl:hasDbXref	Orphanet:3218	Deafness-epiphyseal dysplasia-short stature syndrome	semapv:ManualMappingCuration
MONDO:0011048	epilepsy-microcephaly-skeletal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:1948	Epilepsy-microcephaly-skeletal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0011049	Fine-Lubinsky syndrome	oboInOwl:hasDbXref	Orphanet:1272	Aymé-Gripp syndrome	semapv:ManualMappingCuration
MONDO:0011050	microcephaly-cardiac defect-lung malsegmentation syndrome	oboInOwl:hasDbXref	Orphanet:2516	Microcephaly-cardiac defect-lung malsegmentation syndrome	semapv:ManualMappingCuration
MONDO:0011051	lethal short-limb skeletal dysplasia, Al Gazali type	oboInOwl:hasDbXref	Orphanet:646136	Dysplastic cortical hyperostosis, Al-Gazali type	semapv:ManualMappingCuration
MONDO:0011053	intellectual disability-sparse hair-brachydactyly syndrome	oboInOwl:hasDbXref	Orphanet:3051	Nicolaides-Baraitser syndrome	semapv:ManualMappingCuration
MONDO:0011054	autosomal recessive amelia	oboInOwl:hasDbXref	Orphanet:1027	Autosomal recessive amelia	semapv:ManualMappingCuration
MONDO:0011055	distal monosomy 10p	oboInOwl:hasDbXref	Orphanet:1580	Distal deletion 10p syndrome	semapv:ManualMappingCuration
MONDO:0011059	holoprosencephaly-craniosynostosis syndrome	oboInOwl:hasDbXref	Orphanet:2163	Holoprosencephaly-craniosynostosis syndrome	semapv:ManualMappingCuration
MONDO:0011060	early-onset non-syndromic cataract	oboInOwl:hasDbXref	Orphanet:91492	Early onset non-syndromic cataract	semapv:ManualMappingCuration
MONDO:0011062	aprosencephaly cerebellar dysgenesis	oboInOwl:hasDbXref	Orphanet:1126	Aprosencephaly cerebellar dysgenesis	semapv:ManualMappingCuration
MONDO:0011063	hidrotic ectodermal dysplasia, Christianson-Fourie type	oboInOwl:hasDbXref	Orphanet:1808	Hidrotic ectodermal dysplasia, Christianson-Fourie type	semapv:ManualMappingCuration
MONDO:0011064	lethal chondrodysplasia, Seller type	oboInOwl:hasDbXref	Orphanet:1421	OBSOLETE: Lethal chondrodysplasia, Seller type	semapv:ManualMappingCuration
MONDO:0011065	Hunter-McAlpine craniosynostosis	oboInOwl:hasDbXref	Orphanet:97340	Hunter-McAlpine syndrome	semapv:ManualMappingCuration
MONDO:0011066	Charcot-Marie-Tooth disease type 4B1	oboInOwl:hasDbXref	Orphanet:99955	Charcot-Marie-Tooth disease type 4B1	semapv:ManualMappingCuration
MONDO:0011071	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	oboInOwl:hasDbXref	Orphanet:71290	Familial platelet disorder with associated myeloid malignancy	semapv:ManualMappingCuration
MONDO:0011073	diabetes mellitus, transient neonatal, 1	oboInOwl:hasDbXref	Orphanet:99886	Transient neonatal diabetes mellitus	semapv:ManualMappingCuration
MONDO:0011076	myofibrillar myopathy 1	oboInOwl:hasDbXref	Orphanet:363543	Autosomal recessive limb-girdle muscular dystrophy type 2R	semapv:ManualMappingCuration
MONDO:0011076	myofibrillar myopathy 1	oboInOwl:hasDbXref	Orphanet:98909	Desminopathy	semapv:ManualMappingCuration
MONDO:0011078	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	oboInOwl:hasDbXref	Orphanet:2321	Jung syndrome	semapv:ManualMappingCuration
MONDO:0011079	rhizomelic dysplasia, Patterson-Lowry type	oboInOwl:hasDbXref	Orphanet:2831	Rhizomelic dysplasia, Patterson-Lowry type	semapv:ManualMappingCuration
MONDO:0011080	progressive deafness with stapes fixation	oboInOwl:hasDbXref	Orphanet:3235	Progressive deafness with stapes fixation	semapv:ManualMappingCuration
MONDO:0011081	dislocation of the hip-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:2412	Dislocation of the hip-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0011082	oculoauriculofrontonasal syndrome	oboInOwl:hasDbXref	Orphanet:398156	Oculoauriculofrontonasal syndrome	semapv:ManualMappingCuration
MONDO:0011083	trichodental syndrome	oboInOwl:hasDbXref	Orphanet:3351	Trichodental syndrome	semapv:ManualMappingCuration
MONDO:0011085	Charcot-Marie-Tooth disease type 4D	oboInOwl:hasDbXref	Orphanet:99950	Charcot-Marie-Tooth disease type 4D	semapv:ManualMappingCuration
MONDO:0011086	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	oboInOwl:hasDbXref	Orphanet:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	semapv:ManualMappingCuration
MONDO:0011090	isolated hereditary congenital facial paralysis	oboInOwl:hasDbXref	Orphanet:306527	Isolated hereditary congenital facial paralysis	semapv:ManualMappingCuration
MONDO:0011091	Charcot-Marie-Tooth disease type 2D	oboInOwl:hasDbXref	Orphanet:99938	Autosomal dominant Charcot-Marie-Tooth disease type 2D	semapv:ManualMappingCuration
MONDO:0011093	mucopolysaccharidosis type 9	oboInOwl:hasDbXref	Orphanet:67041	Hyaluronidase deficiency	semapv:ManualMappingCuration
MONDO:0011096	autosomal agammaglobulinemia	oboInOwl:hasDbXref	Orphanet:33110	Autosomal agammaglobulinemia	semapv:ManualMappingCuration
MONDO:0011099	human HOXA1 syndromes	oboInOwl:hasDbXref	Orphanet:69739	Athabaskan brainstem dysgenesis syndrome	semapv:ManualMappingCuration
MONDO:0011106	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	oboInOwl:hasDbXref	Orphanet:412022	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	semapv:ManualMappingCuration
MONDO:0011107	congenital hypotrichosis with juvenile macular dystrophy	oboInOwl:hasDbXref	Orphanet:1573	Hypotrichosis with juvenile macular degeneration	semapv:ManualMappingCuration
MONDO:0011109	multiple epiphyseal dysplasia, Lowry type	oboInOwl:hasDbXref	Orphanet:166016	Multiple epiphyseal dysplasia, Lowry type	semapv:ManualMappingCuration
MONDO:0011110	dyssegmental dysplasia-glaucoma syndrome	oboInOwl:hasDbXref	Orphanet:1804	Dyssegmental dysplasia-glaucoma syndrome	semapv:ManualMappingCuration
MONDO:0011113	Charcot-Marie-Tooth disease type 4C	oboInOwl:hasDbXref	Orphanet:99949	Charcot-Marie-Tooth disease type 4C	semapv:ManualMappingCuration
MONDO:0011114	familial multiple trichoepithelioma	oboInOwl:hasDbXref	Orphanet:867	Familial multiple trichoepithelioma	semapv:ManualMappingCuration
MONDO:0011116	lung agenesis-heart defect-thumb anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1120	Lung agenesis-heart defect-thumb anomalies syndrome	semapv:ManualMappingCuration
MONDO:0011118	bilineal acute myeloid leukemia	oboInOwl:hasDbXref	Orphanet:98836	Bilineal acute leukemia	semapv:ManualMappingCuration
MONDO:0011119	iridogoniodysgenesis	oboInOwl:hasDbXref	Orphanet:98634	Anterior segment developmental anomaly without extraocular manifestations	semapv:ManualMappingCuration
MONDO:0011122	obesity disorder	oboInOwl:hasDbXref	Orphanet:521399	NON RARE IN EUROPE: Non rare obesity	semapv:ManualMappingCuration
MONDO:0011124	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	oboInOwl:hasDbXref	Orphanet:168451	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	semapv:ManualMappingCuration
MONDO:0011125	trichothiodystrophy 1, photosensitive	oboInOwl:hasDbXref	Orphanet:670	PIBIDS syndrome	semapv:ManualMappingCuration
MONDO:0011128	Sheldon-hall syndrome	oboInOwl:hasDbXref	Orphanet:1147	Sheldon-Hall syndrome	semapv:ManualMappingCuration
MONDO:0011131	tricho-oculo-dermo-vertebral syndrome	oboInOwl:hasDbXref	Orphanet:3354	OBSOLETE: Tricho-oculo-dermo-vertebral syndrome	semapv:ManualMappingCuration
MONDO:0011132	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	oboInOwl:hasDbXref	Orphanet:169095	Severe combined immunodeficiency due to FOXN1 deficiency	semapv:ManualMappingCuration
MONDO:0011133	deaf blind hypopigmentation syndrome, Yemenite type	oboInOwl:hasDbXref	Orphanet:3214	Deaf blind hypopigmentation syndrome, Yemenite type	semapv:ManualMappingCuration
MONDO:0011134	Curry-Jones syndrome	oboInOwl:hasDbXref	Orphanet:1553	Curry-Jones syndrome	semapv:ManualMappingCuration
MONDO:0011136	Quebec platelet disorder	oboInOwl:hasDbXref	Orphanet:220436	Quebec platelet disorder	semapv:ManualMappingCuration
MONDO:0011142	Ehlers-Danlos syndrome, musculocontractural type	oboInOwl:hasDbXref	Orphanet:2953	Musculocontractural Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0011144	ceroid lipofuscinosis, neuronal, 6A	oboInOwl:hasDbXref	Orphanet:228363	CLN6 disease	semapv:ManualMappingCuration
MONDO:0011145	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:363741	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0011146	tetrasomy 12p	oboInOwl:hasDbXref	Orphanet:884	Tetrasomy 12p syndrome	semapv:ManualMappingCuration
MONDO:0011147	chromosome 18q deletion syndrome	oboInOwl:hasDbXref	Orphanet:1600	Monosomy 18q syndrome	semapv:ManualMappingCuration
MONDO:0011147	chromosome 18q deletion syndrome	oboInOwl:hasDbXref	Orphanet:262146	Partial deletion of the long arm of chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0011150	acroosteolysis-keloid-like lesions-premature aging syndrome	oboInOwl:hasDbXref	Orphanet:363665	Acroosteolysis-keloid-like lesions-premature aging syndrome	semapv:ManualMappingCuration
MONDO:0011152	PHGDH deficiency	oboInOwl:hasDbXref	Orphanet:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	semapv:ManualMappingCuration
MONDO:0011154	acrofacial dysostosis, Palagonia type	oboInOwl:hasDbXref	Orphanet:1787	Acrofacial dysostosis, Palagonia type	semapv:ManualMappingCuration
MONDO:0011156	progressive familial intrahepatic cholestasis type 2	oboInOwl:hasDbXref	Orphanet:79304	Progressive familial intrahepatic cholestasis type 2	semapv:ManualMappingCuration
MONDO:0011157	Gomez-Lopez-Hernandez syndrome	oboInOwl:hasDbXref	Orphanet:1532	Gómez-López-Hernández syndrome	semapv:ManualMappingCuration
MONDO:0011166	lymphedema-atrial septal defects-facial changes syndrome	oboInOwl:hasDbXref	Orphanet:86915	Lymphedema-atrial septal defects-facial changes syndrome	semapv:ManualMappingCuration
MONDO:0011169	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	oboInOwl:hasDbXref	Orphanet:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	semapv:ManualMappingCuration
MONDO:0011170	autosomal recessive limb-girdle muscular dystrophy type 2G	oboInOwl:hasDbXref	Orphanet:34514	Telethonin-related limb-girdle muscular dystrophy R7	semapv:ManualMappingCuration
MONDO:0011171	odonto-tricho-ungual-digito-palmar syndrome	oboInOwl:hasDbXref	Orphanet:69082	Odonto-tricho-ungual-digito-palmar syndrome	semapv:ManualMappingCuration
MONDO:0011174	hyperzincemia with functional zinc depletion	oboInOwl:hasDbXref	Orphanet:251523	Hyperzincemia and hypercalprotectinemia	semapv:ManualMappingCuration
MONDO:0011176	intestinal hypomagnesemia 1	oboInOwl:hasDbXref	Orphanet:30924	Primary hypomagnesemia with secondary hypocalcemia	semapv:ManualMappingCuration
MONDO:0011178	infantile convulsions and choreoathetosis	oboInOwl:hasDbXref	Orphanet:31709	Infantile convulsions and choreoathetosis	semapv:ManualMappingCuration
MONDO:0011182	trimethylaminuria	oboInOwl:hasDbXref	Orphanet:35056	NON RARE IN EUROPE: Trimethylaminuria	semapv:ManualMappingCuration
MONDO:0011184	childhood apraxia of speech	oboInOwl:hasDbXref	Orphanet:209908	Isolated childhood apraxia of speech	semapv:ManualMappingCuration
MONDO:0011185	Thiel-Behnke corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98960	Thiel-Behnke corneal dystrophy	semapv:ManualMappingCuration
MONDO:0011190	nephronophthisis 2	oboInOwl:hasDbXref	Orphanet:93591	Infantile nephronophthisis	semapv:ManualMappingCuration
MONDO:0011191	capillary infantile hemangioma	oboInOwl:hasDbXref	Orphanet:464293	NON RARE IN EUROPE: Infantile capillary hemangioma	semapv:ManualMappingCuration
MONDO:0011191	capillary infantile hemangioma	oboInOwl:hasDbXref	Orphanet:91415	OBSOLETE: Familial capillary hemangioma	semapv:ManualMappingCuration
MONDO:0011197	hereditary thermosensitive neuropathy	oboInOwl:hasDbXref	Orphanet:84093	Hereditary thermosensitive neuropathy	semapv:ManualMappingCuration
MONDO:0011198	spondyloepimetaphyseal dysplasia, Missouri type	oboInOwl:hasDbXref	Orphanet:93356	Spondyloepimetaphyseal dysplasia, Missouri type	semapv:ManualMappingCuration
MONDO:0011200	torsion dystonia 7	oboInOwl:hasDbXref	Orphanet:93963	OBSOLETE: Autosomal dominant focal dystonia, DYT7 type	semapv:ManualMappingCuration
MONDO:0011202	RHYNS syndrome	oboInOwl:hasDbXref	Orphanet:140976	RHYNS syndrome	semapv:ManualMappingCuration
MONDO:0011208	malignant atrophic papulosis	oboInOwl:hasDbXref	Orphanet:679	Malignant atrophic papulosis	semapv:ManualMappingCuration
MONDO:0011211	axial spondylometaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:168549	Axial spondylometaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0011213	Pierpont syndrome	oboInOwl:hasDbXref	Orphanet:487825	Pierpont syndrome	semapv:ManualMappingCuration
MONDO:0011214	progressive familial intrahepatic cholestasis type 3	oboInOwl:hasDbXref	Orphanet:79305	Progressive familial intrahepatic cholestasis type 3	semapv:ManualMappingCuration
MONDO:0011215	osteocraniostenosis	oboInOwl:hasDbXref	Orphanet:2763	Osteocraniostenosis	semapv:ManualMappingCuration
MONDO:0011217	desmosterolosis	oboInOwl:hasDbXref	Orphanet:35107	Desmosterolosis	semapv:ManualMappingCuration
MONDO:0011218	autosomal recessive congenital ichthyosis 11	oboInOwl:hasDbXref	Orphanet:91132	Ichthyosis-hypotrichosis syndrome	semapv:ManualMappingCuration
MONDO:0011219	Fried's tooth and nail syndrome	oboInOwl:hasDbXref	Orphanet:99672	Fried's tooth and nail syndrome	semapv:ManualMappingCuration
MONDO:0011223	amyotrophic lateral sclerosis type 4	oboInOwl:hasDbXref	Orphanet:357043	Amyotrophic lateral sclerosis type 4	semapv:ManualMappingCuration
MONDO:0011224	monomelic amyotrophy	oboInOwl:hasDbXref	Orphanet:65684	Monomelic amyotrophy	semapv:ManualMappingCuration
MONDO:0011225	severe combined immunodeficiency due to DCLRE1C deficiency	oboInOwl:hasDbXref	Orphanet:275	Severe combined immunodeficiency due to DCLRE1C deficiency	semapv:ManualMappingCuration
MONDO:0011227	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:397623	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0011229	ethylmalonic encephalopathy	oboInOwl:hasDbXref	Orphanet:51188	Ethylmalonic encephalopathy	semapv:ManualMappingCuration
MONDO:0011235	pelvic dysplasia-arthrogryposis of lower limbs syndrome	oboInOwl:hasDbXref	Orphanet:2840	Pelvic dysplasia-arthrogryposis of lower limbs syndrome	semapv:ManualMappingCuration
MONDO:0011236	hyperinsulinism due to glucokinase deficiency	oboInOwl:hasDbXref	Orphanet:79299	Congenital glucokinase-related hyperinsulinism	semapv:ManualMappingCuration
MONDO:0011239	colobomatous macrophthalmia-microcornea syndrome	oboInOwl:hasDbXref	Orphanet:468672	Colobomatous macrophthalmia-microcornea syndrome	semapv:ManualMappingCuration
MONDO:0011240	megalencephaly-capillary malformation-polymicrogyria syndrome	oboInOwl:hasDbXref	Orphanet:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	semapv:ManualMappingCuration
MONDO:0011243	grange syndrome	oboInOwl:hasDbXref	Orphanet:79094	Grange syndrome	semapv:ManualMappingCuration
MONDO:0011244	Marshall-Smith syndrome	oboInOwl:hasDbXref	Orphanet:561	Marshall-Smith syndrome	semapv:ManualMappingCuration
MONDO:0011246	megaconial type congenital muscular dystrophy	oboInOwl:hasDbXref	Orphanet:280671	Megaconial congenital muscular dystrophy	semapv:ManualMappingCuration
MONDO:0011248	distal monosomy 13q	oboInOwl:hasDbXref	Orphanet:1590	Distal deletion 13q syndrome	semapv:ManualMappingCuration
MONDO:0011252	spondyloepimetaphyseal dysplasia, Shohat type	oboInOwl:hasDbXref	Orphanet:93352	Spondyloepimetaphyseal dysplasia, Shohat type	semapv:ManualMappingCuration
MONDO:0011253	craniomicromelic syndrome	oboInOwl:hasDbXref	Orphanet:1524	Craniomicromelic syndrome	semapv:ManualMappingCuration
MONDO:0011255	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	oboInOwl:hasDbXref	Orphanet:357158	Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	semapv:ManualMappingCuration
MONDO:0011257	MPI-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79319	MPI-CDG	semapv:ManualMappingCuration
MONDO:0011261	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	oboInOwl:hasDbXref	Orphanet:163649	Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0011262	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	oboInOwl:hasDbXref	Orphanet:1323	Camptodactyly-joint contractures-facial skeletal defects syndrome	semapv:ManualMappingCuration
MONDO:0011264	torsion dystonia 6	oboInOwl:hasDbXref	Orphanet:98806	Primary dystonia, DYT6 type	semapv:ManualMappingCuration
MONDO:0011266	myotonic dystrophy type 2	oboInOwl:hasDbXref	Orphanet:606	Proximal myotonic myopathy	semapv:ManualMappingCuration
MONDO:0011273	H syndrome	oboInOwl:hasDbXref	Orphanet:168569	H syndrome	semapv:ManualMappingCuration
MONDO:0011274	Muenke syndrome	oboInOwl:hasDbXref	Orphanet:53271	Muenke syndrome	semapv:ManualMappingCuration
MONDO:0011275	acromesomelic dysplasia 1, Maroteaux type	oboInOwl:hasDbXref	Orphanet:40	Acromesomelic dysplasia, Maroteaux type	semapv:ManualMappingCuration
MONDO:0011287	craniosynostosis-anal anomalies-porokeratosis syndrome	oboInOwl:hasDbXref	Orphanet:85199	Craniosynostosis-anal anomalies-porokeratosis syndrome	semapv:ManualMappingCuration
MONDO:0011291	ALG6-congenital disorder of glycosylation 1C	oboInOwl:hasDbXref	Orphanet:79320	ALG6-CDG	semapv:ManualMappingCuration
MONDO:0011299	Huntington disease-like 1	oboInOwl:hasDbXref	Orphanet:157941	Huntington disease-like 1	semapv:ManualMappingCuration
MONDO:0011301	pseudohypoparathyroidism type 1B	oboInOwl:hasDbXref	Orphanet:94089	Pseudohypoparathyroidism type 1B	semapv:ManualMappingCuration
MONDO:0011303	focal segmental glomerulosclerosis 1	oboInOwl:hasDbXref	Orphanet:93213	OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	semapv:ManualMappingCuration
MONDO:0011308	GRACILE syndrome	oboInOwl:hasDbXref	Orphanet:53693	GRACILE syndrome	semapv:ManualMappingCuration
MONDO:0011309	familial gestational hyperthyroidism	oboInOwl:hasDbXref	Orphanet:99819	Familial gestational hyperthyroidism	semapv:ManualMappingCuration
MONDO:0011320	radioulnar synostosis-microcephaly-scoliosis syndrome	oboInOwl:hasDbXref	Orphanet:3268	Radioulnar synostosis-microcephaly-scoliosis syndrome	semapv:ManualMappingCuration
MONDO:0011323	arhinia, choanal atresia, and microphthalmia	oboInOwl:hasDbXref	Orphanet:1135	Arrhinia-choanal atresia-microphthalmia syndrome	semapv:ManualMappingCuration
MONDO:0011323	arhinia, choanal atresia, and microphthalmia	oboInOwl:hasDbXref	Orphanet:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0011327	neuronal intranuclear inclusion disease	oboInOwl:hasDbXref	Orphanet:2289	Neuronal intranuclear inclusion disease	semapv:ManualMappingCuration
MONDO:0011330	spinocerebellar ataxia type 10	oboInOwl:hasDbXref	Orphanet:98761	Spinocerebellar ataxia type 10	semapv:ManualMappingCuration
MONDO:0011331	congenital chylothorax	oboInOwl:hasDbXref	Orphanet:264688	Congenital chylothorax	semapv:ManualMappingCuration
MONDO:0011334	limb-mammary syndrome	oboInOwl:hasDbXref	Orphanet:69085	Limb-mammary syndrome	semapv:ManualMappingCuration
MONDO:0011335	spondyloepimetaphyseal dysplasia with multiple dislocations	oboInOwl:hasDbXref	Orphanet:93360	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type	semapv:ManualMappingCuration
MONDO:0011338	Omenn syndrome	oboInOwl:hasDbXref	Orphanet:39041	Omenn syndrome	semapv:ManualMappingCuration
MONDO:0011339	hereditary spastic paraplegia 8	oboInOwl:hasDbXref	Orphanet:100989	Autosomal dominant spastic paraplegia type 8	semapv:ManualMappingCuration
MONDO:0011340	congenital tracheal stenosis	oboInOwl:hasDbXref	Orphanet:141127	Congenital tracheal stenosis	semapv:ManualMappingCuration
MONDO:0011342	SLC35A1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:238459	SLC35A1-CDG	semapv:ManualMappingCuration
MONDO:0011346	xanthinuria type II	oboInOwl:hasDbXref	Orphanet:93602	Xanthinuria type II	semapv:ManualMappingCuration
MONDO:0011348	non-syndromic polydactyly	oboInOwl:hasDbXref	Orphanet:2913	Non-syndromic polydactyly	semapv:ManualMappingCuration
MONDO:0011359	acromelic frontonasal dysostosis	oboInOwl:hasDbXref	Orphanet:1827	Acromelic frontonasal dysplasia	semapv:ManualMappingCuration
MONDO:0011362	myopathy, myofibrillar, 9, with early respiratory failure	oboInOwl:hasDbXref	Orphanet:178464	Hereditary myopathy with early respiratory failure	semapv:ManualMappingCuration
MONDO:0011362	myopathy, myofibrillar, 9, with early respiratory failure	oboInOwl:hasDbXref	Orphanet:34521	Distal myopathy with early respiratory muscle involvement	semapv:ManualMappingCuration
MONDO:0011365	blepharophimosis - intellectual disability syndrome, SBBYS type	oboInOwl:hasDbXref	Orphanet:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	semapv:ManualMappingCuration
MONDO:0011381	dominant beta-thalassemia	oboInOwl:hasDbXref	Orphanet:231226	Dominant beta-thalassemia	semapv:ManualMappingCuration
MONDO:0011382	sickle cell disease	oboInOwl:hasDbXref	Orphanet:232	Sickle cell anemia	semapv:ManualMappingCuration
MONDO:0011391	megalencephalic leukoencephalopathy with subcortical cysts	oboInOwl:hasDbXref	Orphanet:2478	Megalencephalic leukoencephalopathy with subcortical cysts	semapv:ManualMappingCuration
MONDO:0011396	loricrin keratoderma	oboInOwl:hasDbXref	Orphanet:79395	Keratoderma hereditarium mutilans with ichthyosis	semapv:ManualMappingCuration
MONDO:0011397	autosomal dominant cerebellar ataxia, deafness and narcolepsy	oboInOwl:hasDbXref	Orphanet:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	semapv:ManualMappingCuration
MONDO:0011398	dystrophic epidermolysis bullosa pruriginosa	oboInOwl:hasDbXref	Orphanet:89843	Dystrophic epidermolysis bullosa pruriginosa	semapv:ManualMappingCuration
MONDO:0011399	alpha thalassemia spectrum	oboInOwl:hasDbXref	Orphanet:846	Alpha-thalassemia	semapv:ManualMappingCuration
MONDO:0011402	congenital cataracts-facial dysmorphism-neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0011405	poikiloderma with neutropenia	oboInOwl:hasDbXref	Orphanet:221046	Poikiloderma with neutropenia	semapv:ManualMappingCuration
MONDO:0011408	hereditary spastic paraplegia 10	oboInOwl:hasDbXref	Orphanet:100991	Autosomal dominant spastic paraplegia type 10	semapv:ManualMappingCuration
MONDO:0011411	Chudley-McCullough syndrome	oboInOwl:hasDbXref	Orphanet:314597	Chudley-McCullough syndrome	semapv:ManualMappingCuration
MONDO:0011412	familial encephalopathy with neuroserpin inclusion bodies	oboInOwl:hasDbXref	Orphanet:85110	Familial encephalopathy with neuroserpin inclusion bodies	semapv:ManualMappingCuration
MONDO:0011414	Peters anomaly	oboInOwl:hasDbXref	Orphanet:708	Peters anomaly	semapv:ManualMappingCuration
MONDO:0011417	hemochromatosis type 3	oboInOwl:hasDbXref	Orphanet:225123	TFR2-related hemochromatosis	semapv:ManualMappingCuration
MONDO:0011420	short stature due to partial GHR deficiency	oboInOwl:hasDbXref	Orphanet:314802	Short stature due to partial GHR deficiency	semapv:ManualMappingCuration
MONDO:0011422	autosomal recessive proximal renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:93607	Autosomal recessive proximal renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0011423	autosomal recessive limb-girdle muscular dystrophy type 2E	oboInOwl:hasDbXref	Orphanet:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	semapv:ManualMappingCuration
MONDO:0011424	Carney triad	oboInOwl:hasDbXref	Orphanet:139411	Carney triad	semapv:ManualMappingCuration
MONDO:0011426	aceruloplasminemia	oboInOwl:hasDbXref	Orphanet:48818	Aceruloplasminemia	semapv:ManualMappingCuration
MONDO:0011429	juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:92	Juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0011430	pulverulent cataract	oboInOwl:hasDbXref	Orphanet:98984	Pulverulent cataract	semapv:ManualMappingCuration
MONDO:0011430	pulverulent cataract	oboInOwl:hasDbXref	Orphanet:98986	OBSOLETE: Coppock-like cataract	semapv:ManualMappingCuration
MONDO:0011431	MASS syndrome	oboInOwl:hasDbXref	Orphanet:99715	MASS syndrome	semapv:ManualMappingCuration
MONDO:0011432	blepharophimosis - intellectual disability syndrome, Verloes type	oboInOwl:hasDbXref	Orphanet:293725	Blepharophimosis-intellectual disability syndrome, Verloes type	semapv:ManualMappingCuration
MONDO:0011436	autosomal recessive distal spinal muscular atrophy 1	oboInOwl:hasDbXref	Orphanet:98920	Spinal muscular atrophy with respiratory distress type 1	semapv:ManualMappingCuration
MONDO:0011439	spinocerebellar ataxia type 12	oboInOwl:hasDbXref	Orphanet:98762	Spinocerebellar ataxia type 12	semapv:ManualMappingCuration
MONDO:0011441	complex regional pain syndrome type 1	oboInOwl:hasDbXref	Orphanet:99995	Complex regional pain syndrome type 1	semapv:ManualMappingCuration
MONDO:0011445	hereditary spastic paraplegia 11	oboInOwl:hasDbXref	Orphanet:2822	Autosomal recessive spastic paraplegia type 11	semapv:ManualMappingCuration
MONDO:0011448	PPARG-related familial partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:79083	PPARG-related familial partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0011449	Salla disease	oboInOwl:hasDbXref	Orphanet:309334	Salla disease	semapv:ManualMappingCuration
MONDO:0011454	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	oboInOwl:hasDbXref	Orphanet:228190	Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	semapv:ManualMappingCuration
MONDO:0011462	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	oboInOwl:hasDbXref	Orphanet:69126	PAPA syndrome	semapv:ManualMappingCuration
MONDO:0011463	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	oboInOwl:hasDbXref	Orphanet:538096	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	semapv:ManualMappingCuration
MONDO:0011464	spinocerebellar ataxia type 11	oboInOwl:hasDbXref	Orphanet:98767	Spinocerebellar ataxia type 11	semapv:ManualMappingCuration
MONDO:0011466	distal myopathy, Welander type	oboInOwl:hasDbXref	Orphanet:603	Distal myopathy, Welander type	semapv:ManualMappingCuration
MONDO:0011468	hereditary motor and sensory neuropathy, Okinawa type	oboInOwl:hasDbXref	Orphanet:90117	Hereditary motor and sensory neuropathy, Okinawa type	semapv:ManualMappingCuration
MONDO:0011472	epidermolysis bullosa simplex due to plakophilin deficiency	oboInOwl:hasDbXref	Orphanet:158668	Ectodermal dysplasia-skin fragility syndrome	semapv:ManualMappingCuration
MONDO:0011475	Charcot-Marie-Tooth disease type 4B2	oboInOwl:hasDbXref	Orphanet:99956	Charcot-Marie-Tooth disease type 4B2	semapv:ManualMappingCuration
MONDO:0011476	MHC class I deficiency	oboInOwl:hasDbXref	Orphanet:34592	Immunodeficiency by defective expression of MHC class I	semapv:ManualMappingCuration
MONDO:0011479	postural orthostatic tachycardia syndrome	oboInOwl:hasDbXref	Orphanet:443236	Postural orthostatic tachycardia syndrome due to NET deficiency	semapv:ManualMappingCuration
MONDO:0011481	craniosynostosis 2	oboInOwl:hasDbXref	Orphanet:1541	Craniosynostosis, Boston type	semapv:ManualMappingCuration
MONDO:0011486	congenital muscular dystrophy 1B	oboInOwl:hasDbXref	Orphanet:98893	Congenital muscular dystrophy type 1B	semapv:ManualMappingCuration
MONDO:0011487	Huntington disease-like 3	oboInOwl:hasDbXref	Orphanet:157946	Huntington disease-like 3	semapv:ManualMappingCuration
MONDO:0011489	hereditary spastic paraplegia 12	oboInOwl:hasDbXref	Orphanet:100993	Autosomal dominant spastic paraplegia type 12	semapv:ManualMappingCuration
MONDO:0011490	diffuse panbronchiolitis	oboInOwl:hasDbXref	Orphanet:171700	Diffuse panbronchiolitis	semapv:ManualMappingCuration
MONDO:0011493	Stickler syndrome type 2	oboInOwl:hasDbXref	Orphanet:90654	Stickler syndrome type 2	semapv:ManualMappingCuration
MONDO:0011496	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	oboInOwl:hasDbXref	Orphanet:93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	semapv:ManualMappingCuration
MONDO:0011497	hereditary North American Indian childhood cirrhosis	oboInOwl:hasDbXref	Orphanet:168583	Hereditary North American Indian childhood cirrhosis	semapv:ManualMappingCuration
MONDO:0011500	Becker nevus syndrome	oboInOwl:hasDbXref	Orphanet:64755	Becker nevus syndrome	semapv:ManualMappingCuration
MONDO:0011501	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	oboInOwl:hasDbXref	Orphanet:166277	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	semapv:ManualMappingCuration
MONDO:0011504	NDE1-related microhydranencephaly	oboInOwl:hasDbXref	Orphanet:443162	NDE1-related microhydranencephaly	semapv:ManualMappingCuration
MONDO:0011506	familial infantile myoclonic epilepsy	oboInOwl:hasDbXref	Orphanet:352582	Familial infantile myoclonic epilepsy	semapv:ManualMappingCuration
MONDO:0011510	Bohring-Opitz syndrome	oboInOwl:hasDbXref	Orphanet:97297	Bohring-Opitz syndrome	semapv:ManualMappingCuration
MONDO:0011512	Brooke-Spiegler syndrome	oboInOwl:hasDbXref	Orphanet:79493	Brooke-Spiegler syndrome	semapv:ManualMappingCuration
MONDO:0011514	tricuspid atresia	oboInOwl:hasDbXref	Orphanet:1209	Tricuspid atresia	semapv:ManualMappingCuration
MONDO:0011517	pseudohyperaldosteronism type 2	oboInOwl:hasDbXref	Orphanet:88660	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor	semapv:ManualMappingCuration
MONDO:0011518	Wiedemann-Steiner syndrome	oboInOwl:hasDbXref	Orphanet:319182	Wiedemann-Steiner syndrome	semapv:ManualMappingCuration
MONDO:0011522	hereditary spastic paraplegia 14	oboInOwl:hasDbXref	Orphanet:100995	Autosomal recessive spastic paraplegia type 14	semapv:ManualMappingCuration
MONDO:0011524	Dianzani autoimmune lymphoproliferative disease	oboInOwl:hasDbXref	Orphanet:275523	Dianzani autoimmune lymphoproliferative disease	semapv:ManualMappingCuration
MONDO:0011527	Charcot-Marie-Tooth disease type 4E	oboInOwl:hasDbXref	Orphanet:99951	Charcot-Marie-Tooth disease type 4E	semapv:ManualMappingCuration
MONDO:0011528	hyper-IgM syndrome type 2	oboInOwl:hasDbXref	Orphanet:101089	Hyper-IgM syndrome type 2	semapv:ManualMappingCuration
MONDO:0011529	spinocerebellar ataxia type 13	oboInOwl:hasDbXref	Orphanet:98768	Spinocerebellar ataxia type 13	semapv:ManualMappingCuration
MONDO:0011530	mesomelic dysplasia, Savarirayan type	oboInOwl:hasDbXref	Orphanet:85170	Mesomelic dysplasia, Savarirayan type	semapv:ManualMappingCuration
MONDO:0011532	hereditary spastic paraplegia 13	oboInOwl:hasDbXref	Orphanet:100994	Autosomal dominant spastic paraplegia type 13	semapv:ManualMappingCuration
MONDO:0011533	temtamy preaxial brachydactyly syndrome	oboInOwl:hasDbXref	Orphanet:363417	Temtamy preaxial brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0011534	Charcot-Marie-Tooth disease type 4G	oboInOwl:hasDbXref	Orphanet:99953	Charcot-Marie-Tooth disease type 4G	semapv:ManualMappingCuration
MONDO:0011537	macrocephaly-autism syndrome	oboInOwl:hasDbXref	Orphanet:210548	Macrocephaly-intellectual disability-autism syndrome	semapv:ManualMappingCuration
MONDO:0011539	nemaline myopathy 5	oboInOwl:hasDbXref	Orphanet:98902	Amish nemaline myopathy	semapv:ManualMappingCuration
MONDO:0011540	spinocerebellar ataxia type 14	oboInOwl:hasDbXref	Orphanet:98763	Spinocerebellar ataxia type 14	semapv:ManualMappingCuration
MONDO:0011541	dilated cardiomyopathy 1J	oboInOwl:hasDbXref	Orphanet:217622	Sensorineural deafness with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0011551	TH-deficient dopa-responsive dystonia	oboInOwl:hasDbXref	Orphanet:101150	Autosomal recessive dopa-responsive dystonia	semapv:ManualMappingCuration
MONDO:0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	oboInOwl:hasDbXref	Orphanet:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	semapv:ManualMappingCuration
MONDO:0011559	benign recurrent intrahepatic cholestasis type 2	oboInOwl:hasDbXref	Orphanet:99961	Benign recurrent intrahepatic cholestasis type 2	semapv:ManualMappingCuration
MONDO:0011569	Charcot-Marie-Tooth disease type 2B1	oboInOwl:hasDbXref	Orphanet:98856	Charcot-Marie-Tooth disease type 2B1	semapv:ManualMappingCuration
MONDO:0011570	Charcot-Marie-Tooth disease type 2B2	oboInOwl:hasDbXref	Orphanet:101101	Charcot-Marie-Tooth disease type 2B2	semapv:ManualMappingCuration
MONDO:0011575	cerebrooculonasal syndrome	oboInOwl:hasDbXref	Orphanet:66625	Cerebrooculonasal syndrome	semapv:ManualMappingCuration
MONDO:0011576	familial hyperaldosteronism type II	oboInOwl:hasDbXref	Orphanet:404	Familial hyperaldosteronism type II	semapv:ManualMappingCuration
MONDO:0011578	familial papillary thyroid carcinoma with renal papillary neoplasia	oboInOwl:hasDbXref	Orphanet:97290	Familial papillary thyroid carcinoma with renal papillary neoplasia	semapv:ManualMappingCuration
MONDO:0011579	late-onset retinal degeneration	oboInOwl:hasDbXref	Orphanet:67042	Late-onset retinal degeneration	semapv:ManualMappingCuration
MONDO:0011581	arrhythmogenic cardiomyopathy with wooly hair and keratoderma	oboInOwl:hasDbXref	Orphanet:65282	Carvajal syndrome	semapv:ManualMappingCuration
MONDO:0011582	multiple mitochondrial dysfunctions syndrome 1	oboInOwl:hasDbXref	Orphanet:401869	Multiple mitochondrial dysfunctions syndrome type 1	semapv:ManualMappingCuration
MONDO:0011584	Fanconi anemia complementation group D1	oboInOwl:hasDbXref	Orphanet:319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	semapv:ManualMappingCuration
MONDO:0011585	autosomal recessive distal spinal muscular atrophy 2	oboInOwl:hasDbXref	Orphanet:139552	Distal hereditary motor neuropathy, Jerash type	semapv:ManualMappingCuration
MONDO:0011595	nonsyndromic congenital nail disorder 7	oboInOwl:hasDbXref	Orphanet:79144	Isolated congenital onychodysplasia	semapv:ManualMappingCuration
MONDO:0011599	birdshot chorioretinopathy	oboInOwl:hasDbXref	Orphanet:179	Birdshot chorioretinopathy	semapv:ManualMappingCuration
MONDO:0011601	neonatal intrahepatic cholestasis due to citrin deficiency	oboInOwl:hasDbXref	Orphanet:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	semapv:ManualMappingCuration
MONDO:0011603	GNE myopathy	oboInOwl:hasDbXref	Orphanet:602	GNE myopathy	semapv:ManualMappingCuration
MONDO:0011604	spondylo-ocular syndrome	oboInOwl:hasDbXref	Orphanet:85194	Spondylo-ocular syndrome	semapv:ManualMappingCuration
MONDO:0011605	generalized basaloid follicular hamartoma syndrome	oboInOwl:hasDbXref	Orphanet:168632	Generalized basaloid follicular hamartoma syndrome	semapv:ManualMappingCuration
MONDO:0011610	dimethylglycine dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:243343	Dimethylglycine dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0011612	glycine encephalopathy	oboInOwl:hasDbXref	Orphanet:407	Glycine encephalopathy	semapv:ManualMappingCuration
MONDO:0011614	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	oboInOwl:hasDbXref	Orphanet:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	semapv:ManualMappingCuration
MONDO:0011615	East Texas bleeding disorder	oboInOwl:hasDbXref	Orphanet:391320	East Texas bleeding disorder	semapv:ManualMappingCuration
MONDO:0011620	metaphyseal dysplasia, Braun-Tinschert type	oboInOwl:hasDbXref	Orphanet:85188	Metaphyseal dysplasia, Braun-Tinschert type	semapv:ManualMappingCuration
MONDO:0011621	acropectoral syndrome	oboInOwl:hasDbXref	Orphanet:85203	Acropectoral syndrome	semapv:ManualMappingCuration
MONDO:0011624	transaldolase deficiency	oboInOwl:hasDbXref	Orphanet:101028	Transaldolase deficiency	semapv:ManualMappingCuration
MONDO:0011628	propionic acidemia	oboInOwl:hasDbXref	Orphanet:35	Propionic acidemia	semapv:ManualMappingCuration
MONDO:0011629	MOGS-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79330	MOGS-CDG	semapv:ManualMappingCuration
MONDO:0011631	hemochromatosis type 4	oboInOwl:hasDbXref	Orphanet:139491	OBSOLETE: Hemochromatosis type 4	semapv:ManualMappingCuration
MONDO:0011631	hemochromatosis type 4	oboInOwl:hasDbXref	Orphanet:647834	SLC40A1-related hemochromatosis	semapv:ManualMappingCuration
MONDO:0011631	hemochromatosis type 4	oboInOwl:hasDbXref	Orphanet:648562	Ferroportin disease	semapv:ManualMappingCuration
MONDO:0011633	Charcot-Marie-Tooth disease axonal type 2C	oboInOwl:hasDbXref	Orphanet:99937	Autosomal dominant Charcot-Marie-Tooth disease type 2C	semapv:ManualMappingCuration
MONDO:0011638	neuroferritinopathy	oboInOwl:hasDbXref	Orphanet:157846	Neuroferritinopathy	semapv:ManualMappingCuration
MONDO:0011640	genitopatellar syndrome	oboInOwl:hasDbXref	Orphanet:85201	Genitopatellar syndrome	semapv:ManualMappingCuration
MONDO:0011652	Phelan-McDermid syndrome	oboInOwl:hasDbXref	Orphanet:48652	Phelan-McDermid syndrome	semapv:ManualMappingCuration
MONDO:0011655	alveolar soft part sarcoma	oboInOwl:hasDbXref	Orphanet:163699	Alveolar soft tissue sarcoma	semapv:ManualMappingCuration
MONDO:0011663	juvenile primary lateral sclerosis	oboInOwl:hasDbXref	Orphanet:247604	Juvenile primary lateral sclerosis	semapv:ManualMappingCuration
MONDO:0011664	immunodeficiency due to CD25 deficiency	oboInOwl:hasDbXref	Orphanet:169100	Immunodeficiency due to CD25 deficiency	semapv:ManualMappingCuration
MONDO:0011669	hypotonia-cystinuria syndrome	oboInOwl:hasDbXref	Orphanet:163690	Hypotonia-cystinuria syndrome	semapv:ManualMappingCuration
MONDO:0011669	hypotonia-cystinuria syndrome	oboInOwl:hasDbXref	Orphanet:238517	Hypotonia-cystinuria type 1 syndrome	semapv:ManualMappingCuration
MONDO:0011670	Ehlers-Danlos syndrome due to tenascin-X deficiency	oboInOwl:hasDbXref	Orphanet:230839	Classical-like Ehlers-Danlos syndrome type 1	semapv:ManualMappingCuration
MONDO:0011671	Huntington disease-like 2	oboInOwl:hasDbXref	Orphanet:98934	Huntington disease-like 2	semapv:ManualMappingCuration
MONDO:0011672	persistent polyclonal B-cell lymphocytosis	oboInOwl:hasDbXref	Orphanet:300324	Persistent polyclonal B-cell lymphocytosis	semapv:ManualMappingCuration
MONDO:0011674	Charcot-Marie-Tooth disease dominant intermediate B	oboInOwl:hasDbXref	Orphanet:100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	semapv:ManualMappingCuration
MONDO:0011675	Charcot-Marie-Tooth Disease, axonal, type 2GG	oboInOwl:hasDbXref	Orphanet:100043	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A	semapv:ManualMappingCuration
MONDO:0011676	PHACE syndrome	oboInOwl:hasDbXref	Orphanet:42775	PHACE syndrome	semapv:ManualMappingCuration
MONDO:0011681	episodic ataxia type 4	oboInOwl:hasDbXref	Orphanet:79136	Episodic ataxia type 4	semapv:ManualMappingCuration
MONDO:0011682	episodic ataxia type 3	oboInOwl:hasDbXref	Orphanet:79135	Episodic ataxia type 3	semapv:ManualMappingCuration
MONDO:0011683	oculocutaneous albinism type 4	oboInOwl:hasDbXref	Orphanet:79435	Oculocutaneous albinism type 4	semapv:ManualMappingCuration
MONDO:0011686	DNA ligase IV deficiency	oboInOwl:hasDbXref	Orphanet:99812	LIG4 syndrome	semapv:ManualMappingCuration
MONDO:0011687	Charcot-Marie-Tooth disease axonal type 2F	oboInOwl:hasDbXref	Orphanet:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	semapv:ManualMappingCuration
MONDO:0011688	muscular dystrophy-dystroglycanopathy type B5	oboInOwl:hasDbXref	Orphanet:52428	Congenital muscular dystrophy type 1C	semapv:ManualMappingCuration
MONDO:0011694	spinocerebellar ataxia type 15/16	oboInOwl:hasDbXref	Orphanet:98769	Spinocerebellar ataxia type 15/16	semapv:ManualMappingCuration
MONDO:0011694	spinocerebellar ataxia type 15/16	oboInOwl:hasDbXref	Orphanet:98770	Spinocerebellar ataxia type 16	semapv:ManualMappingCuration
MONDO:0011698	glycine N-methyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:289891	Hypermethioninemia due to glycine N-methyltransferase deficiency	semapv:ManualMappingCuration
MONDO:0011706	Kufor-Rakeb syndrome	oboInOwl:hasDbXref	Orphanet:306674	Kufor-Rakeb syndrome	semapv:ManualMappingCuration
MONDO:0011717	hyperinsulinism-hyperammonemia syndrome	oboInOwl:hasDbXref	Orphanet:35878	Hyperinsulinism-hyperammonemia syndrome	semapv:ManualMappingCuration
MONDO:0011719	gastrointestinal stromal tumor	oboInOwl:hasDbXref	Orphanet:44890	Gastrointestinal stromal tumor	semapv:ManualMappingCuration
MONDO:0011721	distal myopathy with anterior tibial onset	oboInOwl:hasDbXref	Orphanet:178400	Distal myopathy with anterior tibial onset	semapv:ManualMappingCuration
MONDO:0011722	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	oboInOwl:hasDbXref	Orphanet:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	semapv:ManualMappingCuration
MONDO:0011723	hemifacial myohyperplasia	oboInOwl:hasDbXref	Orphanet:141148	Hemifacial myohyperplasia	semapv:ManualMappingCuration
MONDO:0011724	encephalopathy due to GLUT1 deficiency	oboInOwl:hasDbXref	Orphanet:71277	Classic glucose transporter type 1 deficiency syndrome	semapv:ManualMappingCuration
MONDO:0011725	Crigler-Najjar syndrome type 2	oboInOwl:hasDbXref	Orphanet:79235	Crigler-Najjar syndrome type 2	semapv:ManualMappingCuration
MONDO:0011730	fumaric aciduria	oboInOwl:hasDbXref	Orphanet:24	Fumaric aciduria	semapv:ManualMappingCuration
MONDO:0011731	glucose-galactose malabsorption	oboInOwl:hasDbXref	Orphanet:35710	Glucose-galactose malabsorption	semapv:ManualMappingCuration
MONDO:0011732	familial digital arthropathy-brachydactyly	oboInOwl:hasDbXref	Orphanet:85169	Familial digital arthropathy-brachydactyly	semapv:ManualMappingCuration
MONDO:0011735	hyper-IgM syndrome type 3	oboInOwl:hasDbXref	Orphanet:101090	Hyper-IgM syndrome type 3	semapv:ManualMappingCuration
MONDO:0011738	bilateral frontoparietal polymicrogyria	oboInOwl:hasDbXref	Orphanet:101070	Bilateral frontoparietal polymicrogyria	semapv:ManualMappingCuration
MONDO:0011740	Carney-Stratakis syndrome	oboInOwl:hasDbXref	Orphanet:97286	Carney-Stratakis syndrome	semapv:ManualMappingCuration
MONDO:0011744	primary intraosseous venous malformation	oboInOwl:hasDbXref	Orphanet:140436	Primary intraosseous venous malformation	semapv:ManualMappingCuration
MONDO:0011749	oculocutaneous albinism type 1B	oboInOwl:hasDbXref	Orphanet:79434	Oculocutaneous albinism type 1B	semapv:ManualMappingCuration
MONDO:0011754	familial hyperreninemic hypoaldosteronism type 2	oboInOwl:hasDbXref	Orphanet:99764	OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2	semapv:ManualMappingCuration
MONDO:0011758	Hurler syndrome	oboInOwl:hasDbXref	Orphanet:93473	Hurler syndrome	semapv:ManualMappingCuration
MONDO:0011759	Hurler-Scheie syndrome	oboInOwl:hasDbXref	Orphanet:93476	Hurler-Scheie syndrome	semapv:ManualMappingCuration
MONDO:0011760	Scheie syndrome	oboInOwl:hasDbXref	Orphanet:93474	Scheie syndrome	semapv:ManualMappingCuration
MONDO:0011765	multiple epiphyseal dysplasia type 5	oboInOwl:hasDbXref	Orphanet:93311	Multiple epiphyseal dysplasia type 5	semapv:ManualMappingCuration
MONDO:0011766	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0011771	neuronopathy, distal hereditary motor, autosomal recessive 3	oboInOwl:hasDbXref	Orphanet:139547	Distal spinal muscular atrophy type 3	semapv:ManualMappingCuration
MONDO:0011772	B4GALT1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79332	B4GALT1-CDG	semapv:ManualMappingCuration
MONDO:0011773	anauxetic dysplasia	oboInOwl:hasDbXref	Orphanet:93347	Anauxetic dysplasia	semapv:ManualMappingCuration
MONDO:0011776	CINCA syndrome	oboInOwl:hasDbXref	Orphanet:1451	CINCA syndrome	semapv:ManualMappingCuration
MONDO:0011778	multiple epiphyseal dysplasia, Al-Gazali type	oboInOwl:hasDbXref	Orphanet:166024	Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0011781	spinocerebellar ataxia type 17	oboInOwl:hasDbXref	Orphanet:98759	Spinocerebellar ataxia type 17	semapv:ManualMappingCuration
MONDO:0011783	ALG12-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79324	ALG12-CDG	semapv:ManualMappingCuration
MONDO:0011785	hereditary spastic paraplegia 19	oboInOwl:hasDbXref	Orphanet:100999	Autosomal dominant spastic paraplegia type 19	semapv:ManualMappingCuration
MONDO:0011787	autosomal recessive limb-girdle muscular dystrophy type 2I	oboInOwl:hasDbXref	Orphanet:34515	FKRP-related limb-girdle muscular dystrophy R9	semapv:ManualMappingCuration
MONDO:0011788	cloverleaf skull-multiple congenital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:93267	Cloverleaf skull-multiple congenital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0011790	Amish lethal microcephaly	oboInOwl:hasDbXref	Orphanet:99742	Amish lethal microcephaly	semapv:ManualMappingCuration
MONDO:0011794	obsolete Dravet syndrome	oboInOwl:hasDbXref	Orphanet:33069	Dravet syndrome	semapv:ManualMappingCuration
MONDO:0011795	anonychia-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:1094	Anonychia-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0011797	infantile-onset ascending hereditary spastic paralysis	oboInOwl:hasDbXref	Orphanet:293168	Infantile-onset ascending hereditary spastic paralysis	semapv:ManualMappingCuration
MONDO:0011798	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	oboInOwl:hasDbXref	Orphanet:157855	HARP syndrome	semapv:ManualMappingCuration
MONDO:0011801	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	oboInOwl:hasDbXref	Orphanet:94124	Spinocerebellar ataxia with axonal neuropathy type 1	semapv:ManualMappingCuration
MONDO:0011803	hereditary spastic paraplegia 7	oboInOwl:hasDbXref	Orphanet:99013	Spastic paraplegia type 7	semapv:ManualMappingCuration
MONDO:0011804	autoimmune lymphoproliferative syndrome type 2B	oboInOwl:hasDbXref	Orphanet:275517	Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency	semapv:ManualMappingCuration
MONDO:0011806	osteofibrous dysplasia	oboInOwl:hasDbXref	Orphanet:488265	Osteofibrous dysplasia	semapv:ManualMappingCuration
MONDO:0011810	horizontal gaze palsy with progressive scoliosis	oboInOwl:hasDbXref	Orphanet:2744	Horizontal gaze palsy with progressive scoliosis	semapv:ManualMappingCuration
MONDO:0011811	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	oboInOwl:hasDbXref	Orphanet:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	semapv:ManualMappingCuration
MONDO:0011812	Duane-radial ray syndrome	oboInOwl:hasDbXref	Orphanet:93293	Okihiro syndrome	semapv:ManualMappingCuration
MONDO:0011812	Duane-radial ray syndrome	oboInOwl:hasDbXref	Orphanet:959	Acro-renal-ocular syndrome	semapv:ManualMappingCuration
MONDO:0011816	lathosterolosis	oboInOwl:hasDbXref	Orphanet:46059	Lathosterolosis	semapv:ManualMappingCuration
MONDO:0011818	isolated focal cortical dysplasia type II	oboInOwl:hasDbXref	Orphanet:268994	Isolated focal cortical dysplasia type II	semapv:ManualMappingCuration
MONDO:0011819	spinocerebellar ataxia type 19/22	oboInOwl:hasDbXref	Orphanet:98772	Spinocerebellar ataxia type 19/22	semapv:ManualMappingCuration
MONDO:0011822	Bartter disease type 3	oboInOwl:hasDbXref	Orphanet:93605	Bartter syndrome type 3	semapv:ManualMappingCuration
MONDO:0011823	developmental malformations-deafness-dystonia syndrome	oboInOwl:hasDbXref	Orphanet:79107	Developmental malformations-deafness-dystonia syndrome	semapv:ManualMappingCuration
MONDO:0011827	patent ductus arteriosus	oboInOwl:hasDbXref	Orphanet:706	NON RARE IN EUROPE: Patent arterial duct	semapv:ManualMappingCuration
MONDO:0011830	lissencephaly due to LIS1 mutation	oboInOwl:hasDbXref	Orphanet:95232	Lissencephaly due to LIS1 mutation	semapv:ManualMappingCuration
MONDO:0011833	spinocerebellar ataxia type 21	oboInOwl:hasDbXref	Orphanet:98773	Spinocerebellar ataxia type 21	semapv:ManualMappingCuration
MONDO:0011834	spinocerebellar ataxia type 18	oboInOwl:hasDbXref	Orphanet:98771	Spinocerebellar ataxia type 18	semapv:ManualMappingCuration
MONDO:0011835	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	oboInOwl:hasDbXref	Orphanet:402082	Progressive myoclonic epilepsy type 5	semapv:ManualMappingCuration
MONDO:0011835	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	oboInOwl:hasDbXref	Orphanet:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	semapv:ManualMappingCuration
MONDO:0011838	Bothnia retinal dystrophy	oboInOwl:hasDbXref	Orphanet:85128	Bothnia retinal dystrophy	semapv:ManualMappingCuration
MONDO:0011841	biotin-responsive basal ganglia disease	oboInOwl:hasDbXref	Orphanet:199348	Thiamine-responsive encephalopathy	semapv:ManualMappingCuration
MONDO:0011841	biotin-responsive basal ganglia disease	oboInOwl:hasDbXref	Orphanet:65284	Biotin-thiamine-responsive basal ganglia disease	semapv:ManualMappingCuration
MONDO:0011844	myoclonic dystonia 15	oboInOwl:hasDbXref	Orphanet:210566	Myoclonic dystonia 15	semapv:ManualMappingCuration
MONDO:0011849	psoriatic arthritis	oboInOwl:hasDbXref	Orphanet:40050	NON RARE IN EUROPE: Psoriatic arthritis	semapv:ManualMappingCuration
MONDO:0011855	granular corneal dystrophy type II	oboInOwl:hasDbXref	Orphanet:98963	Granular corneal dystrophy type II	semapv:ManualMappingCuration
MONDO:0011856	spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:168552	Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0011862	hereditary spastic paraplegia 24	oboInOwl:hasDbXref	Orphanet:101004	Autosomal recessive spastic paraplegia type 24	semapv:ManualMappingCuration
MONDO:0011868	lethal congenital contracture syndrome 2	oboInOwl:hasDbXref	Orphanet:137776	Lethal congenital contracture syndrome type 2	semapv:ManualMappingCuration
MONDO:0011869	epidermolysis bullosa simplex superficialis	oboInOwl:hasDbXref	Orphanet:89839	OBSOLETE: Epidermolysis bullosa simplex superficialis	semapv:ManualMappingCuration
MONDO:0011870	annular epidermolytic ichthyosis	oboInOwl:hasDbXref	Orphanet:281139	Annular epidermolytic ichthyosis	semapv:ManualMappingCuration
MONDO:0011871	Niemann-Pick disease type B	oboInOwl:hasDbXref	Orphanet:77293	Chronic visceral acid sphingomyelinase deficiency	semapv:ManualMappingCuration
MONDO:0011872	Griscelli syndrome type 2	oboInOwl:hasDbXref	Orphanet:79477	Griscelli syndrome type 2	semapv:ManualMappingCuration
MONDO:0011874	neonatal ichthyosis-sclerosing cholangitis syndrome	oboInOwl:hasDbXref	Orphanet:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	semapv:ManualMappingCuration
MONDO:0011877	autosomal dominant osteopetrosis 1	oboInOwl:hasDbXref	Orphanet:2783	Autosomal dominant osteopetrosis type 1	semapv:ManualMappingCuration
MONDO:0011882	skin fragility-woolly hair-palmoplantar keratoderma syndrome	oboInOwl:hasDbXref	Orphanet:293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	semapv:ManualMappingCuration
MONDO:0011883	Curly hair - acral keratoderma - caries syndrome	oboInOwl:hasDbXref	Orphanet:307766	Curly hair-acral keratoderma-caries syndrome	semapv:ManualMappingCuration
MONDO:0011884	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	oboInOwl:hasDbXref	Orphanet:307936	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	semapv:ManualMappingCuration
MONDO:0011885	tubulointerstitial nephritis and uveitis syndrome	oboInOwl:hasDbXref	Orphanet:91500	Tubulointerstitial nephritis and uveitis syndrome	semapv:ManualMappingCuration
MONDO:0011886	torsion dystonia 13	oboInOwl:hasDbXref	Orphanet:98807	Primary dystonia, DYT13 type	semapv:ManualMappingCuration
MONDO:0011888	immunodeficiency 67	oboInOwl:hasDbXref	Orphanet:70592	Transient predisposition to invasive pyogenic bacterial infection	semapv:ManualMappingCuration
MONDO:0011889	Charcot-Marie-Tooth disease type 2I	oboInOwl:hasDbXref	Orphanet:99942	Autosomal dominant Charcot-Marie-Tooth disease type 2I	semapv:ManualMappingCuration
MONDO:0011890	Charcot-Marie-Tooth disease type 1D	oboInOwl:hasDbXref	Orphanet:101084	Charcot-Marie-Tooth disease type 1D	semapv:ManualMappingCuration
MONDO:0011894	Charcot-Marie-Tooth disease type 2E	oboInOwl:hasDbXref	Orphanet:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	semapv:ManualMappingCuration
MONDO:0011895	idiopathic hypereosinophilic syndrome	oboInOwl:hasDbXref	Orphanet:3260	Idiopathic hypereosinophilic syndrome	semapv:ManualMappingCuration
MONDO:0011899	Noonan syndrome-like disorder with loose anagen hair	oboInOwl:hasDbXref	Orphanet:2701	Noonan syndrome-like disorder with loose anagen hair	semapv:ManualMappingCuration
MONDO:0011901	Charcot-Marie-Tooth disease axonal type 2H	oboInOwl:hasDbXref	Orphanet:101102	Charcot-Marie-Tooth disease type 2H	semapv:ManualMappingCuration
MONDO:0011902	Charcot-Marie-Tooth disease type 1F	oboInOwl:hasDbXref	Orphanet:101085	Charcot-Marie-Tooth disease type 1F	semapv:ManualMappingCuration
MONDO:0011903	Charcot-Marie-Tooth disease type 2J	oboInOwl:hasDbXref	Orphanet:99943	Autosomal dominant Charcot-Marie-Tooth disease type 2J	semapv:ManualMappingCuration
MONDO:0011904	seizures, benign familial infantile, 3	oboInOwl:hasDbXref	Orphanet:140927	Self-limited neonatal-infantile epilepsy	semapv:ManualMappingCuration
MONDO:0011906	congenital bile acid synthesis defect 1	oboInOwl:hasDbXref	Orphanet:79301	Congenital bile acid synthesis defect type 1	semapv:ManualMappingCuration
MONDO:0011907	acrocapitofemoral dysplasia	oboInOwl:hasDbXref	Orphanet:63446	Acrocapitofemoral dysplasia	semapv:ManualMappingCuration
MONDO:0011908	juvenile myelomonocytic leukemia	oboInOwl:hasDbXref	Orphanet:86834	Juvenile myelomonocytic leukemia	semapv:ManualMappingCuration
MONDO:0011909	Charcot-Marie-Tooth disease dominant intermediate D	oboInOwl:hasDbXref	Orphanet:100046	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	semapv:ManualMappingCuration
MONDO:0011910	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	oboInOwl:hasDbXref	Orphanet:265	Autosomal dominant limb-girdle muscular dystrophy type 1C	semapv:ManualMappingCuration
MONDO:0011911	craniolenticulosutural dysplasia	oboInOwl:hasDbXref	Orphanet:50814	Craniolenticulosutural dysplasia	semapv:ManualMappingCuration
MONDO:0011916	Charcot-Marie-Tooth disease axonal type 2K	oboInOwl:hasDbXref	Orphanet:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	semapv:ManualMappingCuration
MONDO:0011922	nonimmune chronic idiopathic neutropenia of adults	oboInOwl:hasDbXref	Orphanet:2688	Adult idiopathic neutropenia	semapv:ManualMappingCuration
MONDO:0011925	congenital merosin-deficient muscular dystrophy 1A	oboInOwl:hasDbXref	Orphanet:258	Laminin subunit alpha 2-related congenital muscular dystrophy	semapv:ManualMappingCuration
MONDO:0011927	tufted angioma	oboInOwl:hasDbXref	Orphanet:1063	Tufted angioma	semapv:ManualMappingCuration
MONDO:0011928	caudal duplication	oboInOwl:hasDbXref	Orphanet:1756	Caudal duplication	semapv:ManualMappingCuration
MONDO:0011929	chromosome 1p36 deletion syndrome	oboInOwl:hasDbXref	Orphanet:1606	1p36 deletion syndrome	semapv:ManualMappingCuration
MONDO:0011933	ALG2-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79326	ALG2-CDG	semapv:ManualMappingCuration
MONDO:0011934	dermatofibrosarcoma protuberans	oboInOwl:hasDbXref	Orphanet:31112	Dermatofibrosarcoma protuberans	semapv:ManualMappingCuration
MONDO:0011936	microphthalmia with brain and digit anomalies	oboInOwl:hasDbXref	Orphanet:139471	Microphthalmia with brain and digit anomalies	semapv:ManualMappingCuration
MONDO:0011939	Spondyloenchondrodysplasia with immune dysregulation	oboInOwl:hasDbXref	Orphanet:1855	Spondyloenchondrodysplasia	semapv:ManualMappingCuration
MONDO:0011939	Spondyloenchondrodysplasia with immune dysregulation	oboInOwl:hasDbXref	Orphanet:50816	Spondylometaphyseal dysplasia with combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0011945	Gaucher disease perinatal lethal	oboInOwl:hasDbXref	Orphanet:85212	Fetal Gaucher disease	semapv:ManualMappingCuration
MONDO:0011946	diaphanospondylodysostosis	oboInOwl:hasDbXref	Orphanet:66637	Diaphanospondylodysostosis	semapv:ManualMappingCuration
MONDO:0011948	pontocerebellar hypoplasia type 3	oboInOwl:hasDbXref	Orphanet:97249	Pontocerebellar hypoplasia type 3	semapv:ManualMappingCuration
MONDO:0011950	infantile-onset autosomal recessive nonprogressive cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:284332	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0011953	familial acute necrotizing encephalopathy	oboInOwl:hasDbXref	Orphanet:88619	Familial acute necrotizing encephalopathy	semapv:ManualMappingCuration
MONDO:0011957	retinal macular dystrophy type 2	oboInOwl:hasDbXref	Orphanet:319640	Retinal macular dystrophy type 2	semapv:ManualMappingCuration
MONDO:0011959	sweet syndrome	oboInOwl:hasDbXref	Orphanet:3243	Sweet syndrome	semapv:ManualMappingCuration
MONDO:0011961	hereditary sensory and autonomic neuropathy type 1B	oboInOwl:hasDbXref	Orphanet:139564	Hereditary sensory and autonomic neuropathy type 1B	semapv:ManualMappingCuration
MONDO:0011964	DPAGT1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:86309	DPAGT1-CDG	semapv:ManualMappingCuration
MONDO:0011968	autosomal recessive limb-girdle muscular dystrophy type 2D	oboInOwl:hasDbXref	Orphanet:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	semapv:ManualMappingCuration
MONDO:0011969	ALG8-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79325	ALG8-CDG	semapv:ManualMappingCuration
MONDO:0011970	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	oboInOwl:hasDbXref	Orphanet:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	semapv:ManualMappingCuration
MONDO:0011971	hyper-IgM syndrome type 5	oboInOwl:hasDbXref	Orphanet:101092	Hyper-IgM syndrome type 5	semapv:ManualMappingCuration
MONDO:0011972	ovarian hyperstimulation syndrome	oboInOwl:hasDbXref	Orphanet:64739	Ovarian hyperstimulation syndrome	semapv:ManualMappingCuration
MONDO:0011975	paternal uniparental disomy of chromosome 14	oboInOwl:hasDbXref	Orphanet:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	semapv:ManualMappingCuration
MONDO:0011976	lipodystrophy-intellectual disability-deafness syndrome	oboInOwl:hasDbXref	Orphanet:50811	Lipodystrophy-intellectual disability-deafness syndrome	semapv:ManualMappingCuration
MONDO:0011977	8q22.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:178303	8q22.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0011979	adult-onset foveomacular vitelliform dystrophy	oboInOwl:hasDbXref	Orphanet:99000	Adult-onset foveomacular vitelliform dystrophy	semapv:ManualMappingCuration
MONDO:0011984	synpolydactyly type 2	oboInOwl:hasDbXref	Orphanet:295197	Synpolydactyly type 2	semapv:ManualMappingCuration
MONDO:0011985	hyper-IgM syndrome type 4	oboInOwl:hasDbXref	Orphanet:101091	Hyper-IgM syndrome type 4	semapv:ManualMappingCuration
MONDO:0011986	tropical pancreatitis	oboInOwl:hasDbXref	Orphanet:103918	Tropical pancreatitis	semapv:ManualMappingCuration
MONDO:0011988	neutrophil immunodeficiency syndrome	oboInOwl:hasDbXref	Orphanet:183707	Infantile LAD-like disease due to RAC2 deficiency	semapv:ManualMappingCuration
MONDO:0011989	leishmaniasis	oboInOwl:hasDbXref	Orphanet:507	Leishmaniasis	semapv:ManualMappingCuration
MONDO:0011992	hereditary spastic paraplegia 25	oboInOwl:hasDbXref	Orphanet:101005	Autosomal recessive spastic paraplegia type 25	semapv:ManualMappingCuration
MONDO:0011995	cataract - congenital heart disease - neural tube defect syndrome	oboInOwl:hasDbXref	Orphanet:314993	Cataract-congenital heart disease-neural tube defect syndrome	semapv:ManualMappingCuration
MONDO:0011996	chronic myelogenous leukemia, BCR-ABL1 positive	oboInOwl:hasDbXref	Orphanet:521	Chronic myeloid leukemia	semapv:ManualMappingCuration
MONDO:0011997	Hermansky-Pudlak syndrome 2	oboInOwl:hasDbXref	Orphanet:183678	Hermansky-Pudlak syndrome due to AP-3 deficiency	semapv:ManualMappingCuration
MONDO:0011997	Hermansky-Pudlak syndrome 2	oboInOwl:hasDbXref	Orphanet:664500	Hermansky-Pudlak syndrome due to AP3B1 deficiency	semapv:ManualMappingCuration
MONDO:0011998	autosomal dominant slowed nerve conduction velocity	oboInOwl:hasDbXref	Orphanet:140481	Autosomal dominant slowed nerve conduction velocity	semapv:ManualMappingCuration
MONDO:0012004	parathyroid gland carcinoma	oboInOwl:hasDbXref	Orphanet:143	Parathyroid carcinoma	semapv:ManualMappingCuration
MONDO:0012008	Lelis syndrome	oboInOwl:hasDbXref	Orphanet:140936	Lelis syndrome	semapv:ManualMappingCuration
MONDO:0012012	Charcot-Marie-Tooth disease dominant intermediate C	oboInOwl:hasDbXref	Orphanet:100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	semapv:ManualMappingCuration
MONDO:0012013	Weill-Marchesani syndrome 2, dominant	oboInOwl:hasDbXref	Orphanet:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	semapv:ManualMappingCuration
MONDO:0012014	Charcot-Marie-Tooth disease recessive intermediate A	oboInOwl:hasDbXref	Orphanet:217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	semapv:ManualMappingCuration
MONDO:0012016	capillary malformation-arteriovenous malformation syndrome	oboInOwl:hasDbXref	Orphanet:137667	Capillary malformation-arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0012019	spondyloepiphyseal dysplasia, Kimberley type	oboInOwl:hasDbXref	Orphanet:93283	Spondyloepiphyseal dysplasia, Kimberley type	semapv:ManualMappingCuration
MONDO:0012020	chromosome 22q11.2 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:1727	22q11.2 duplication syndrome	semapv:ManualMappingCuration
MONDO:0012032	Braddock syndrome	oboInOwl:hasDbXref	Orphanet:52047	Braddock syndrome	semapv:ManualMappingCuration
MONDO:0012033	bradyopsia	oboInOwl:hasDbXref	Orphanet:75374	Bradyopsia	semapv:ManualMappingCuration
MONDO:0012034	autosomal dominant limb-girdle muscular dystrophy type 1F	oboInOwl:hasDbXref	Orphanet:55595	TNP03-related limb-girdle muscular dystrophy D2	semapv:ManualMappingCuration
MONDO:0012035	craniosynostosis-intracranial calcifications syndrome	oboInOwl:hasDbXref	Orphanet:52054	Craniosynostosis-intracranial calcifications syndrome	semapv:ManualMappingCuration
MONDO:0012041	familial adenomatous polyposis 2	oboInOwl:hasDbXref	Orphanet:247798	MUTYH-related attenuated familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0012043	Reis-Bucklers corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98961	Reis-Bücklers corneal dystrophy	semapv:ManualMappingCuration
MONDO:0012049	orofaciodigital syndrome VII	oboInOwl:hasDbXref	Orphanet:90649	Orofaciodigital syndrome type 7	semapv:ManualMappingCuration
MONDO:0012052	ALG1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79327	ALG1-CDG	semapv:ManualMappingCuration
MONDO:0012055	Larsen-like osseous dysplasia-short stature syndrome	oboInOwl:hasDbXref	Orphanet:2370	Larsen-like osseous dysplasia-short stature syndrome	semapv:ManualMappingCuration
MONDO:0012061	familial sick sinus syndrome	oboInOwl:hasDbXref	Orphanet:166282	Familial sick sinus syndrome	semapv:ManualMappingCuration
MONDO:0012063	ulnar/fibula ray defect-brachydactyly syndrome	oboInOwl:hasDbXref	Orphanet:52056	Ulnar/fibula ray defect-brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0012064	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:1200	Burn-McKeown syndrome	semapv:ManualMappingCuration
MONDO:0012072	familial partial lipodystrophy, Kobberling type	oboInOwl:hasDbXref	Orphanet:79084	Familial partial lipodystrophy, Köbberling type	semapv:ManualMappingCuration
MONDO:0012073	ribose-5-P isomerase deficiency	oboInOwl:hasDbXref	Orphanet:440706	Ribose-5-P isomerase deficiency	semapv:ManualMappingCuration
MONDO:0012074	mandibuloacral dysplasia with type B lipodystrophy	oboInOwl:hasDbXref	Orphanet:90154	Mandibuloacral dysplasia with type B lipodystrophy	semapv:ManualMappingCuration
MONDO:0012075	oligodontia-cancer predisposition syndrome	oboInOwl:hasDbXref	Orphanet:300576	Oligodontia-cancer predisposition syndrome	semapv:ManualMappingCuration
MONDO:0012081	15q11q13 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:238446	15q11q13 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0012084	aromatic L-amino acid decarboxylase deficiency	oboInOwl:hasDbXref	Orphanet:35708	Aromatic L-amino acid decarboxylase deficiency	semapv:ManualMappingCuration
MONDO:0012089	ichthyosis prematurity syndrome	oboInOwl:hasDbXref	Orphanet:88621	Ichthyosis-prematurity syndrome	semapv:ManualMappingCuration
MONDO:0012092	hereditary sensory and autonomic neuropathy type 5	oboInOwl:hasDbXref	Orphanet:64752	Hereditary sensory and autonomic neuropathy type 5	semapv:ManualMappingCuration
MONDO:0012095	intellectual disability-brachydactyly-Pierre Robin syndrome	oboInOwl:hasDbXref	Orphanet:364577	Intellectual disability-brachydactyly-Pierre Robin syndrome	semapv:ManualMappingCuration
MONDO:0012096	Charcot-Marie-Tooth disease axonal type 2L	oboInOwl:hasDbXref	Orphanet:99945	Autosomal dominant Charcot-Marie-Tooth disease type 2L	semapv:ManualMappingCuration
MONDO:0012098	spinocerebellar ataxia type 20	oboInOwl:hasDbXref	Orphanet:101110	Spinocerebellar ataxia type 20	semapv:ManualMappingCuration
MONDO:0012099	AICA-ribosiduria	oboInOwl:hasDbXref	Orphanet:250977	AICA-ribosiduria	semapv:ManualMappingCuration
MONDO:0012103	spinocerebellar ataxia type 25	oboInOwl:hasDbXref	Orphanet:101111	Spinocerebellar ataxia type 25	semapv:ManualMappingCuration
MONDO:0012104	acquired partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:79087	Acquired partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0012105	granulomatosis with polyangiitis	oboInOwl:hasDbXref	Orphanet:900	Granulomatosis with polyangiitis	semapv:ManualMappingCuration
MONDO:0012108	spondyloepimetaphyseal dysplasia, matrilin-3 type	oboInOwl:hasDbXref	Orphanet:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	semapv:ManualMappingCuration
MONDO:0012110	growth delay due to insulin-like growth factor type 1 deficiency	oboInOwl:hasDbXref	Orphanet:73272	Growth delay due to insulin-like growth factor type 1 deficiency	semapv:ManualMappingCuration
MONDO:0012116	spinocerebellar ataxia type 8	oboInOwl:hasDbXref	Orphanet:98760	Spinocerebellar ataxia type 8	semapv:ManualMappingCuration
MONDO:0012117	ALG9-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79328	ALG9-CDG	semapv:ManualMappingCuration
MONDO:0012118	COG7-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79333	COG7-CDG	semapv:ManualMappingCuration
MONDO:0012120	pyruvate dehydrogenase phosphatase deficiency	oboInOwl:hasDbXref	Orphanet:79246	Pyruvate dehydrogenase phosphatase deficiency	semapv:ManualMappingCuration
MONDO:0012123	congenital disorder of glycosylation type 1E	oboInOwl:hasDbXref	Orphanet:79322	DPM1-CDG	semapv:ManualMappingCuration
MONDO:0012124	sudden infant death-dysgenesis of the testes syndrome	oboInOwl:hasDbXref	Orphanet:168593	Sudden infant death-dysgenesis of the testes syndrome	semapv:ManualMappingCuration
MONDO:0012125	hypomyelinating leukodystrophy 2	oboInOwl:hasDbXref	Orphanet:280282	Pelizaeus-Merzbacher-like disease due to GJC2 mutation	semapv:ManualMappingCuration
MONDO:0012126	familial avascular necrosis of femoral head	oboInOwl:hasDbXref	Orphanet:86820	Familial avascular necrosis of femoral head	semapv:ManualMappingCuration
MONDO:0012127	autosomal recessive limb-girdle muscular dystrophy type 2J	oboInOwl:hasDbXref	Orphanet:140922	Titin-related limb-girdle muscular dystrophy R10	semapv:ManualMappingCuration
MONDO:0012130	myofibrillar myopathy 2	oboInOwl:hasDbXref	Orphanet:399058	Alpha-B crystallin-related late-onset myopathy	semapv:ManualMappingCuration
MONDO:0012131	metaphyseal undermodeling, spondylar dysplasia, and overgrowth	oboInOwl:hasDbXref	Orphanet:498485	Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0012136	carnitine palmitoyl transferase II deficiency, neonatal form	oboInOwl:hasDbXref	Orphanet:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	semapv:ManualMappingCuration
MONDO:0012137	Carney complex - trismus - pseudocamptodactyly syndrome	oboInOwl:hasDbXref	Orphanet:319340	Carney complex-trismus-pseudocamptodactyly syndrome	semapv:ManualMappingCuration
MONDO:0012138	muscular dystrophy-dystroglycanopathy type B6	oboInOwl:hasDbXref	Orphanet:98894	Congenital muscular dystrophy type 1D	semapv:ManualMappingCuration
MONDO:0012143	hereditary cryohydrocytosis with reduced stomatin	oboInOwl:hasDbXref	Orphanet:168577	Hereditary cryohydrocytosis with reduced stomatin	semapv:ManualMappingCuration
MONDO:0012155	choanal atresia	oboInOwl:hasDbXref	Orphanet:137914	Choanal atresia	semapv:ManualMappingCuration
MONDO:0012160	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	oboInOwl:hasDbXref	Orphanet:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	semapv:ManualMappingCuration
MONDO:0012161	susceptibility to respiratory infections associated with CD8alpha chain mutation	oboInOwl:hasDbXref	Orphanet:169085	Susceptibility to respiratory infections associated with CD8alpha chain mutation	semapv:ManualMappingCuration
MONDO:0012164	Meacham syndrome	oboInOwl:hasDbXref	Orphanet:3097	Meacham syndrome	semapv:ManualMappingCuration
MONDO:0012165	BNAR syndrome	oboInOwl:hasDbXref	Orphanet:217266	BNAR syndrome	semapv:ManualMappingCuration
MONDO:0012172	mitochondrial trifunctional protein deficiency	oboInOwl:hasDbXref	Orphanet:746	Mitochondrial trifunctional protein deficiency	semapv:ManualMappingCuration
MONDO:0012173	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0012176	Emanuel syndrome	oboInOwl:hasDbXref	Orphanet:96170	Emanuel syndrome	semapv:ManualMappingCuration
MONDO:0012177	posterior column ataxia-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:88628	Posterior column ataxia-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0012181	hereditary spastic paraplegia 27	oboInOwl:hasDbXref	Orphanet:101007	Autosomal recessive spastic paraplegia type 27	semapv:ManualMappingCuration
MONDO:0012184	Pierson syndrome	oboInOwl:hasDbXref	Orphanet:2670	Pierson syndrome	semapv:ManualMappingCuration
MONDO:0012185	spondylometaphyseal dysplasia, A4 type	oboInOwl:hasDbXref	Orphanet:168555	Spondylometaphyseal dysplasia, A4 type	semapv:ManualMappingCuration
MONDO:0012188	neuronal ceroid lipofuscinosis 9	oboInOwl:hasDbXref	Orphanet:228357	OBSOLETE: CLN9 disease	semapv:ManualMappingCuration
MONDO:0012190	epidermolysis bullosa simplex 7, with nephropathy and deafness	oboInOwl:hasDbXref	Orphanet:300333	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0012191	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	oboInOwl:hasDbXref	Orphanet:137681	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	semapv:ManualMappingCuration
MONDO:0012192	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	oboInOwl:hasDbXref	Orphanet:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	semapv:ManualMappingCuration
MONDO:0012193	autosomal dominant limb-girdle muscular dystrophy type 1G	oboInOwl:hasDbXref	Orphanet:55596	HNRNPDL-related limb-girdle muscular dystrophy D3	semapv:ManualMappingCuration
MONDO:0012195	arthrogryposis-severe scoliosis syndrome	oboInOwl:hasDbXref	Orphanet:65720	Arthrogryposis-severe scoliosis syndrome	semapv:ManualMappingCuration
MONDO:0012197	idiopathic aplastic anemia	oboInOwl:hasDbXref	Orphanet:88	Idiopathic aplastic anemia	semapv:ManualMappingCuration
MONDO:0012198	PCWH syndrome	oboInOwl:hasDbXref	Orphanet:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	semapv:ManualMappingCuration
MONDO:0012203	familial hyperthyroidism due to mutations in TSH receptor	oboInOwl:hasDbXref	Orphanet:424	Familial hyperthyroidism due to mutations in TSH receptor	semapv:ManualMappingCuration
MONDO:0012204	familial pseudohyperkalemia	oboInOwl:hasDbXref	Orphanet:90044	Familial pseudohyperkalemia	semapv:ManualMappingCuration
MONDO:0012206	spondyloepiphyseal dysplasia with metatarsal shortening	oboInOwl:hasDbXref	Orphanet:137678	Spondyloepiphyseal dysplasia with metatarsal shortening	semapv:ManualMappingCuration
MONDO:0012208	congenital reticular ichthyosiform erythroderma	oboInOwl:hasDbXref	Orphanet:281190	Congenital reticular ichthyosiform erythroderma	semapv:ManualMappingCuration
MONDO:0012209	branchiogenic deafness syndrome	oboInOwl:hasDbXref	Orphanet:50815	Branchiogenic deafness syndrome	semapv:ManualMappingCuration
MONDO:0012211	MPDU1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:79323	MPDU1-CDG	semapv:ManualMappingCuration
MONDO:0012212	Loeys-Dietz syndrome 1	oboInOwl:hasDbXref	Orphanet:97295	Furlong syndrome	semapv:ManualMappingCuration
MONDO:0012213	hereditary spastic paraplegia 26	oboInOwl:hasDbXref	Orphanet:101006	Autosomal recessive spastic paraplegia type 26	semapv:ManualMappingCuration
MONDO:0012215	myofibrillar myopathy 3	oboInOwl:hasDbXref	Orphanet:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	semapv:ManualMappingCuration
MONDO:0012215	myofibrillar myopathy 3	oboInOwl:hasDbXref	Orphanet:268129	Spheroid body myopathy	semapv:ManualMappingCuration
MONDO:0012215	myofibrillar myopathy 3	oboInOwl:hasDbXref	Orphanet:98911	Distal myotilinopathy	semapv:ManualMappingCuration
MONDO:0012216	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	oboInOwl:hasDbXref	Orphanet:397618	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	semapv:ManualMappingCuration
MONDO:0012220	Griscelli syndrome type 3	oboInOwl:hasDbXref	Orphanet:79478	Griscelli syndrome type 3	semapv:ManualMappingCuration
MONDO:0012221	alpha-N-acetylgalactosaminidase deficiency type 1	oboInOwl:hasDbXref	Orphanet:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	semapv:ManualMappingCuration
MONDO:0012222	alpha-N-acetylgalactosaminidase deficiency type 2	oboInOwl:hasDbXref	Orphanet:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	semapv:ManualMappingCuration
MONDO:0012231	Charcot-Marie-Tooth disease type 2A2	oboInOwl:hasDbXref	Orphanet:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	semapv:ManualMappingCuration
MONDO:0012235	autosomal recessive spinocerebellar ataxia 7	oboInOwl:hasDbXref	Orphanet:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	semapv:ManualMappingCuration
MONDO:0012243	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	oboInOwl:hasDbXref	Orphanet:567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	semapv:ManualMappingCuration
MONDO:0012246	spinocerebellar ataxia type 26	oboInOwl:hasDbXref	Orphanet:101112	Spinocerebellar ataxia type 26	semapv:ManualMappingCuration
MONDO:0012247	spinocerebellar ataxia type 27	oboInOwl:hasDbXref	Orphanet:98764	Spinocerebellar ataxia type 27A	semapv:ManualMappingCuration
MONDO:0012248	autosomal recessive limb-girdle muscular dystrophy type 2K	oboInOwl:hasDbXref	Orphanet:86812	POMT1-related limb-girdle muscular dystrophy R11	semapv:ManualMappingCuration
MONDO:0012250	Charcot-Marie-Tooth disease type 4H	oboInOwl:hasDbXref	Orphanet:99954	Charcot-Marie-Tooth disease type 4H	semapv:ManualMappingCuration
MONDO:0012251	MEDNIK syndrome	oboInOwl:hasDbXref	Orphanet:171851	MEDNIK syndrome	semapv:ManualMappingCuration
MONDO:0012253	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	oboInOwl:hasDbXref	Orphanet:166029	Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0012254	multiple epiphyseal dysplasia, with miniepiphyses	oboInOwl:hasDbXref	Orphanet:166032	Multiple epiphyseal dysplasia-miniepiphyses syndrome	semapv:ManualMappingCuration
MONDO:0012256	hereditary spastic paraplegia 28	oboInOwl:hasDbXref	Orphanet:101008	Autosomal recessive spastic paraplegia type 28	semapv:ManualMappingCuration
MONDO:0012257	Cerebrorenodigital syndrome	oboInOwl:hasDbXref	Orphanet:1396	OBSOLETE: Cerebrorenodigital syndrome	semapv:ManualMappingCuration
MONDO:0012258	epidermolysis bullosa simplex 2E, with migratory circinate erythema	oboInOwl:hasDbXref	Orphanet:158681	Epidermolysis bullosa simplex with circinate migratory erythema	semapv:ManualMappingCuration
MONDO:0012269	chromosome 3q29 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:65286	3q29 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012271	mesoaxial synostotic syndactyly with phalangeal reduction	oboInOwl:hasDbXref	Orphanet:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	semapv:ManualMappingCuration
MONDO:0012275	fetal valproate syndrome	oboInOwl:hasDbXref	Orphanet:1906	Fetal valproate spectrum disorder	semapv:ManualMappingCuration
MONDO:0012276	generalized epilepsy-paroxysmal dyskinesia syndrome	oboInOwl:hasDbXref	Orphanet:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	semapv:ManualMappingCuration
MONDO:0012277	myofibrillar myopathy 4	oboInOwl:hasDbXref	Orphanet:98912	Late-onset distal myopathy, Markesbery-Griggs type	semapv:ManualMappingCuration
MONDO:0012280	Goldberg-Shprintzen syndrome	oboInOwl:hasDbXref	Orphanet:66629	Goldberg-Shprintzen megacolon syndrome	semapv:ManualMappingCuration
MONDO:0012282	Al-Gazali syndrome	oboInOwl:hasDbXref	Orphanet:2725	Eye defects-arachnodactyly-cardiopathy syndrome	semapv:ManualMappingCuration
MONDO:0012289	myofibrillar myopathy 5	oboInOwl:hasDbXref	Orphanet:171445	Muscle filaminopathy	semapv:ManualMappingCuration
MONDO:0012290	CEDNIK syndrome	oboInOwl:hasDbXref	Orphanet:66631	CEDNIK syndrome	semapv:ManualMappingCuration
MONDO:0012296	lipomyelomeningocele	oboInOwl:hasDbXref	Orphanet:268835	Lipomyelomeningocele	semapv:ManualMappingCuration
MONDO:0012297	spastic paraplegia, optic atropy, and neuropathy	oboInOwl:hasDbXref	Orphanet:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0012301	mitochondrial DNA depletion syndrome, myopathic form	oboInOwl:hasDbXref	Orphanet:254875	Mitochondrial DNA depletion syndrome, myopathic form	semapv:ManualMappingCuration
MONDO:0012307	familial scaphocephaly syndrome, McGillivray type	oboInOwl:hasDbXref	Orphanet:168624	Familial scaphocephaly syndrome, McGillivray type	semapv:ManualMappingCuration
MONDO:0012308	Joubert syndrome with renal defect	oboInOwl:hasDbXref	Orphanet:220497	Joubert syndrome with renal defect	semapv:ManualMappingCuration
MONDO:0012315	distal 10q deletion syndrome	oboInOwl:hasDbXref	Orphanet:96148	Distal deletion 10q syndrome	semapv:ManualMappingCuration
MONDO:0012316	Majeed syndrome	oboInOwl:hasDbXref	Orphanet:77297	Majeed syndrome	semapv:ManualMappingCuration
MONDO:0012323	lethal acantholytic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:158687	Lethal acantholytic erosive disorder	semapv:ManualMappingCuration
MONDO:0012324	Frias syndrome	oboInOwl:hasDbXref	Orphanet:2055	Growth deficiency-brachydactyly-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0012324	Frias syndrome	oboInOwl:hasDbXref	Orphanet:264200	14q22q23 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012330	talo-patello-scaphoid osteolysis	oboInOwl:hasDbXref	Orphanet:50809	Talo-patello-scaphoid osteolysis	semapv:ManualMappingCuration
MONDO:0012334	hereditary spastic paraplegia 29	oboInOwl:hasDbXref	Orphanet:101009	Autosomal dominant spastic paraplegia type 29	semapv:ManualMappingCuration
MONDO:0012335	obesity due to pro-opiomelanocortin deficiency	oboInOwl:hasDbXref	Orphanet:71526	Obesity due to pro-opiomelanocortin deficiency	semapv:ManualMappingCuration
MONDO:0012342	7q11.23 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:96121	7q11.23 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0012345	acral peeling skin syndrome	oboInOwl:hasDbXref	Orphanet:263534	Acral peeling skin syndrome	semapv:ManualMappingCuration
MONDO:0012351	zygodactyly type 1	oboInOwl:hasDbXref	Orphanet:295187	Zygodactyly type 1	semapv:ManualMappingCuration
MONDO:0012354	platelet-type bleeding disorder 8	oboInOwl:hasDbXref	Orphanet:36355	Bleeding disorder due to P2Y12 defect	semapv:ManualMappingCuration
MONDO:0012359	combined immunodeficiency due to partial RAG1 deficiency	oboInOwl:hasDbXref	Orphanet:231154	Combined immunodeficiency due to partial RAG1 deficiency	semapv:ManualMappingCuration
MONDO:0012368	aminoacylase 1 deficiency	oboInOwl:hasDbXref	Orphanet:137754	Aminoacylase 1 deficiency	semapv:ManualMappingCuration
MONDO:0012381	hyperinsulinism due to INSR deficiency	oboInOwl:hasDbXref	Orphanet:263458	Hyperinsulinism due to INSR deficiency	semapv:ManualMappingCuration
MONDO:0012382	hyperinsulinemic hypoglycemia, familial, 4	oboInOwl:hasDbXref	Orphanet:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0012383	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0012387	osteosclerosis-ichthyosis-premature ovarian failure syndrome	oboInOwl:hasDbXref	Orphanet:75325	Osteosclerosis-ichthyosis-premature ovarian failure syndrome	semapv:ManualMappingCuration
MONDO:0012391	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	oboInOwl:hasDbXref	Orphanet:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	semapv:ManualMappingCuration
MONDO:0012391	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	oboInOwl:hasDbXref	Orphanet:530298	Progressive myoclonic epilepsy with neuroserpin inclusion bodies	semapv:ManualMappingCuration
MONDO:0012392	2-methylbutyryl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:79157	2-methylbutyryl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0012393	congenital brain dysgenesis due to glutamine synthetase deficiency	oboInOwl:hasDbXref	Orphanet:71278	Congenital brain dysgenesis due to glutamine synthetase deficiency	semapv:ManualMappingCuration
MONDO:0012396	exercise-induced hyperinsulinism	oboInOwl:hasDbXref	Orphanet:165991	Exercise-induced hyperinsulinism	semapv:ManualMappingCuration
MONDO:0012399	complex cortical dysplasia with other brain malformations 7	oboInOwl:hasDbXref	Orphanet:300573	Polymicrogyria due to TUBB2B mutation	semapv:ManualMappingCuration
MONDO:0012400	cortical dysplasia-focal epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:163681	CNTNAP2-related developmental and epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0012401	congenital stromal corneal dystrophy	oboInOwl:hasDbXref	Orphanet:101068	Congenital stromal corneal dystrophy	semapv:ManualMappingCuration
MONDO:0012407	pyridoxal phosphate-responsive seizures	oboInOwl:hasDbXref	Orphanet:79096	Pyridoxal phosphate-responsive seizures	semapv:ManualMappingCuration
MONDO:0012410	Finnish upper limb-onset distal myopathy	oboInOwl:hasDbXref	Orphanet:399086	Finnish upper limb-onset distal myopathy	semapv:ManualMappingCuration
MONDO:0012411	giant axonal neuropathy 2	oboInOwl:hasDbXref	Orphanet:401964	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	semapv:ManualMappingCuration
MONDO:0012413	syndromic microphthalmia type 5	oboInOwl:hasDbXref	Orphanet:178364	Syndromic microphthalmia type 5	semapv:ManualMappingCuration
MONDO:0012414	neuronal ceroid lipofuscinosis 10	oboInOwl:hasDbXref	Orphanet:228337	CLN10 disease	semapv:ManualMappingCuration
MONDO:0012417	heart-hand syndrome, Slovenian type	oboInOwl:hasDbXref	Orphanet:168796	Heart-hand syndrome, Slovenian type	semapv:ManualMappingCuration
MONDO:0012423	MORM syndrome	oboInOwl:hasDbXref	Orphanet:75858	MORM syndrome	semapv:ManualMappingCuration
MONDO:0012435	3-methylglutaconic aciduria type 5	oboInOwl:hasDbXref	Orphanet:66634	Dilated cardiomyopathy with ataxia	semapv:ManualMappingCuration
MONDO:0012436	neonatal diabetes mellitus with congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:79118	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	semapv:ManualMappingCuration
MONDO:0012438	pontocerebellar hypoplasia type 5	oboInOwl:hasDbXref	Orphanet:166068	Pontocerebellar hypoplasia type 5	semapv:ManualMappingCuration
MONDO:0012439	Alagille syndrome due to a NOTCH2 point mutation	oboInOwl:hasDbXref	Orphanet:261629	Alagille syndrome due to a NOTCH2 point mutation	semapv:ManualMappingCuration
MONDO:0012446	seborrhea-like dermatitis with psoriasiform elements	oboInOwl:hasDbXref	Orphanet:168606	Seborrhea-like dermatitis with psoriasiform elements	semapv:ManualMappingCuration
MONDO:0012447	synpolydactyly type 3	oboInOwl:hasDbXref	Orphanet:295199	Synpolydactyly type 3	semapv:ManualMappingCuration
MONDO:0012449	spinocerebellar ataxia type 23	oboInOwl:hasDbXref	Orphanet:101108	Spinocerebellar ataxia type 23	semapv:ManualMappingCuration
MONDO:0012450	spinocerebellar ataxia type 28	oboInOwl:hasDbXref	Orphanet:101109	Spinocerebellar ataxia type 28	semapv:ManualMappingCuration
MONDO:0012453	hereditary spastic paraplegia 31	oboInOwl:hasDbXref	Orphanet:101011	Autosomal dominant spastic paraplegia type 31	semapv:ManualMappingCuration
MONDO:0012455	Kleefstra syndrome	oboInOwl:hasDbXref	Orphanet:261494	Kleefstra syndrome	semapv:ManualMappingCuration
MONDO:0012456	congenital primary aphakia	oboInOwl:hasDbXref	Orphanet:83461	Congenital primary aphakia	semapv:ManualMappingCuration
MONDO:0012462	autosomal recessive frontotemporal pachygyria	oboInOwl:hasDbXref	Orphanet:329329	Autosomal recessive frontotemporal pachygyria	semapv:ManualMappingCuration
MONDO:0012465	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	oboInOwl:hasDbXref	Orphanet:83639	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	semapv:ManualMappingCuration
MONDO:0012475	cone dystrophy with supernormal rod response	oboInOwl:hasDbXref	Orphanet:209932	Cone dystrophy with supernormal rod response	semapv:ManualMappingCuration
MONDO:0012476	hereditary spastic paraplegia 30	oboInOwl:hasDbXref	Orphanet:101010	Autosomal spastic paraplegia type 30	semapv:ManualMappingCuration
MONDO:0012479	congenital malabsorptive diarrhea 4	oboInOwl:hasDbXref	Orphanet:83620	Enteric anendocrinosis	semapv:ManualMappingCuration
MONDO:0012481	mevalonic aciduria	oboInOwl:hasDbXref	Orphanet:29	Mevalonic aciduria	semapv:ManualMappingCuration
MONDO:0012495	spondyloepimetaphyseal dysplasia, Genevieve type	oboInOwl:hasDbXref	Orphanet:168454	Spondyloepimetaphyseal dysplasia, Geneviève type	semapv:ManualMappingCuration
MONDO:0012496	Koolen-de Vries syndrome	oboInOwl:hasDbXref	Orphanet:96169	Koolen-De Vries syndrome	semapv:ManualMappingCuration
MONDO:0012502	normophosphatemic familial tumoral calcinosis	oboInOwl:hasDbXref	Orphanet:306658	Familial normophosphatemic tumoral calcinosis	semapv:ManualMappingCuration
MONDO:0012503	thiopurine S-methyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:3315		semapv:ManualMappingCuration
MONDO:0012504	camptodactyly-tall stature-scoliosis-hearing loss syndrome	oboInOwl:hasDbXref	Orphanet:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	semapv:ManualMappingCuration
MONDO:0012508	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	oboInOwl:hasDbXref	Orphanet:83617	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	semapv:ManualMappingCuration
MONDO:0012510	combined oxidative phosphorylation defect type 2	oboInOwl:hasDbXref	Orphanet:254920	Combined oxidative phosphorylation defect type 2	semapv:ManualMappingCuration
MONDO:0012512	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	oboInOwl:hasDbXref	Orphanet:168566	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	semapv:ManualMappingCuration
MONDO:0012514	hypomyelinating leukodystrophy 5	oboInOwl:hasDbXref	Orphanet:85163	Hypomyelination-congenital cataract syndrome	semapv:ManualMappingCuration
MONDO:0012516	mandibulofacial dysostosis-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:79113	Mandibulofacial dysostosis-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0012517	Gaucher disease due to saposin C deficiency	oboInOwl:hasDbXref	Orphanet:309252	Atypical Gaucher disease due to saposin C deficiency	semapv:ManualMappingCuration
MONDO:0012519	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	oboInOwl:hasDbXref	Orphanet:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	semapv:ManualMappingCuration
MONDO:0012520	insulin-resistance syndrome type A	oboInOwl:hasDbXref	Orphanet:2297	Insulin-resistance syndrome type A	semapv:ManualMappingCuration
MONDO:0012521	herpes simplex encephalitis	oboInOwl:hasDbXref	Orphanet:1930	Herpes simplex virus encephalitis	semapv:ManualMappingCuration
MONDO:0012526	hereditary angioedema type 3	oboInOwl:hasDbXref	Orphanet:100054	F12-related hereditary angioedema with normal C1Inh	semapv:ManualMappingCuration
MONDO:0012530	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	oboInOwl:hasDbXref	Orphanet:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	semapv:ManualMappingCuration
MONDO:0012531	xeroderma pigmentosum group B	oboInOwl:hasDbXref	Orphanet:276252	OBSOLETE: Xeroderma pigmentosum complementation group B	semapv:ManualMappingCuration
MONDO:0012534	combined oxidative phosphorylation defect type 4	oboInOwl:hasDbXref	Orphanet:254925	Combined oxidative phosphorylation defect type 4	semapv:ManualMappingCuration
MONDO:0012541	deafness with labyrinthine aplasia, microtia, and microdontia	oboInOwl:hasDbXref	Orphanet:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	semapv:ManualMappingCuration
MONDO:0012544	brachydactyly-syndactyly syndrome	oboInOwl:hasDbXref	Orphanet:93409	Brachydactyly-syndactyly, Zhao type	semapv:ManualMappingCuration
MONDO:0012545	neutral lipid storage myopathy	oboInOwl:hasDbXref	Orphanet:98908	Neutral lipid storage disease with myopathy	semapv:ManualMappingCuration
MONDO:0012548	Kostmann syndrome	oboInOwl:hasDbXref	Orphanet:99749	Kostmann syndrome	semapv:ManualMappingCuration
MONDO:0012549	autosomal recessive ataxia, Beauce type	oboInOwl:hasDbXref	Orphanet:88644	Autosomal recessive ataxia, Beauce type	semapv:ManualMappingCuration
MONDO:0012552	multiple endocrine neoplasia type 4	oboInOwl:hasDbXref	Orphanet:276152	Multiple endocrine neoplasia type 4	semapv:ManualMappingCuration
MONDO:0012556	DK1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:91131	DK1-CDG	semapv:ManualMappingCuration
MONDO:0012557	cardiomyopathy-hypotonia-lactic acidosis syndrome	oboInOwl:hasDbXref	Orphanet:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	semapv:ManualMappingCuration
MONDO:0012559	primary immunodeficiency syndrome due to p14 deficiency	oboInOwl:hasDbXref	Orphanet:90023	Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency	semapv:ManualMappingCuration
MONDO:0012570	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	oboInOwl:hasDbXref	Orphanet:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	semapv:ManualMappingCuration
MONDO:0012574	Potocki-Lupski syndrome	oboInOwl:hasDbXref	Orphanet:1713	17p11.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0012579	autoimmune pulmonary alveolar proteinosis	oboInOwl:hasDbXref	Orphanet:747	Autoimmune pulmonary alveolar proteinosis	semapv:ManualMappingCuration
MONDO:0012580	hereditary pulmonary alveolar proteinosis	oboInOwl:hasDbXref	Orphanet:264675	Hereditary pulmonary alveolar proteinosis	semapv:ManualMappingCuration
MONDO:0012582	interstitial lung disease due to ABCA3 deficiency	oboInOwl:hasDbXref	Orphanet:440402	Interstitial lung disease due to ABCA3 deficiency	semapv:ManualMappingCuration
MONDO:0012588	neuronal ceroid lipofuscinosis 7	oboInOwl:hasDbXref	Orphanet:228366	CLN7 disease	semapv:ManualMappingCuration
MONDO:0012589	Pitt-Hopkins syndrome	oboInOwl:hasDbXref	Orphanet:2896	Pitt-Hopkins syndrome	semapv:ManualMappingCuration
MONDO:0012591	osteogenesis imperfecta type 5	oboInOwl:hasDbXref	Orphanet:216828	Osteogenesis imperfecta type 5	semapv:ManualMappingCuration
MONDO:0012593	brain-lung-thyroid syndrome	oboInOwl:hasDbXref	Orphanet:209905	Brain-lung-thyroid syndrome	semapv:ManualMappingCuration
MONDO:0012594	complement factor I deficiency	oboInOwl:hasDbXref	Orphanet:200418	Immunodeficiency with factor I anomaly	semapv:ManualMappingCuration
MONDO:0012596	PSAT deficiency	oboInOwl:hasDbXref	Orphanet:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	semapv:ManualMappingCuration
MONDO:0012605	isolated microphthalmia 5	oboInOwl:hasDbXref	Orphanet:251279	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome	semapv:ManualMappingCuration
MONDO:0012608	neuronopathy, distal hereditary motor, autosomal recessive 4	oboInOwl:hasDbXref	Orphanet:206580	Autosomal recessive lower motor neuron disease with childhood onset	semapv:ManualMappingCuration
MONDO:0012611	polyhydramnios, megalencephaly, and symptomatic epilepsy	oboInOwl:hasDbXref	Orphanet:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0012621	deafness-infertility syndrome	oboInOwl:hasDbXref	Orphanet:94064	Deafness-infertility syndrome	semapv:ManualMappingCuration
MONDO:0012622	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	oboInOwl:hasDbXref	Orphanet:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	semapv:ManualMappingCuration
MONDO:0012624	acyl-CoA dehydrogenase 9 deficiency	oboInOwl:hasDbXref	Orphanet:99901	Acyl-CoA dehydrogenase 9 deficiency	semapv:ManualMappingCuration
MONDO:0012634	craniofacial dysplasia - osteopenia syndrome	oboInOwl:hasDbXref	Orphanet:314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome	semapv:ManualMappingCuration
MONDO:0012635	COG8-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:95428	COG8-CDG	semapv:ManualMappingCuration
MONDO:0012637	COG1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:263508	COG1-CDG	semapv:ManualMappingCuration
MONDO:0012638	microphthalmia-brain atrophy syndrome	oboInOwl:hasDbXref	Orphanet:77299	Microphthalmia-brain atrophy syndrome	semapv:ManualMappingCuration
MONDO:0012639	hereditary spastic paraplegia 18	oboInOwl:hasDbXref	Orphanet:209951	Autosomal spastic paraplegia type 18	semapv:ManualMappingCuration
MONDO:0012640	Charcot-Marie-Tooth disease type 4J	oboInOwl:hasDbXref	Orphanet:139515	Charcot-Marie-Tooth disease type 4J	semapv:ManualMappingCuration
MONDO:0012643	hereditary spastic paraplegia 32	oboInOwl:hasDbXref	Orphanet:171622	Autosomal recessive spastic paraplegia type 32	semapv:ManualMappingCuration
MONDO:0012648	isobutyryl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:79159	Isobutyryl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0012650	Cernunnos-XLF deficiency	oboInOwl:hasDbXref	Orphanet:169079	Cernunnos-XLF deficiency	semapv:ManualMappingCuration
MONDO:0012651	spastic ataxia 2	oboInOwl:hasDbXref	Orphanet:397946	Autosomal spastic paraplegia type 58	semapv:ManualMappingCuration
MONDO:0012652	autosomal recessive limb-girdle muscular dystrophy type 2L	oboInOwl:hasDbXref	Orphanet:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	semapv:ManualMappingCuration
MONDO:0012656	lethal congenital contracture syndrome 3	oboInOwl:hasDbXref	Orphanet:137783	Lethal congenital contracture syndrome type 3	semapv:ManualMappingCuration
MONDO:0012658	brachydactyly type B2	oboInOwl:hasDbXref	Orphanet:140908	Brachydactyly type B2	semapv:ManualMappingCuration
MONDO:0012664	spastic ataxia 3	oboInOwl:hasDbXref	Orphanet:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0012665	cataract 33	oboInOwl:hasDbXref	Orphanet:217046	OBSOLETE: Autosomal recessive childhood-onset cortical cataract	semapv:ManualMappingCuration
MONDO:0012665	cataract 33	oboInOwl:hasDbXref	Orphanet:217052	OBSOLETE: Infantile non-syndromic cataract	semapv:ManualMappingCuration
MONDO:0012669	Legius syndrome	oboInOwl:hasDbXref	Orphanet:137605	Legius syndrome	semapv:ManualMappingCuration
MONDO:0012675	corticosteroid-binding globulin deficiency	oboInOwl:hasDbXref	Orphanet:199247	Corticosteroid-binding globulin deficiency	semapv:ManualMappingCuration
MONDO:0012679	autosomal recessive osteopetrosis 6	oboInOwl:hasDbXref	Orphanet:210110	Intermediate osteopetrosis	semapv:ManualMappingCuration
MONDO:0012682	immunodeficiency 35	oboInOwl:hasDbXref	Orphanet:331226	Susceptibility to infection due to TYK2 deficiency	semapv:ManualMappingCuration
MONDO:0012683	pontocerebellar hypoplasia type 6	oboInOwl:hasDbXref	Orphanet:166073	Pontocerebellar hypoplasia type 6	semapv:ManualMappingCuration
MONDO:0012687	familial cavitary optic disk anomaly	oboInOwl:hasDbXref	Orphanet:464760	Familial cavitary optic disc anomaly	semapv:ManualMappingCuration
MONDO:0012693	glycogen storage disease due to muscle and heart glycogen synthase deficiency	oboInOwl:hasDbXref	Orphanet:137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	semapv:ManualMappingCuration
MONDO:0012699	autosomal recessive limb-girdle muscular dystrophy type 2M	oboInOwl:hasDbXref	Orphanet:206554	Fukutin-related limb-girdle muscular dystrophy R13	semapv:ManualMappingCuration
MONDO:0012700	renal tubular acidosis, distal, 4, with hemolytic anemia	oboInOwl:hasDbXref	Orphanet:93610	Distal renal tubular acidosis with anemia	semapv:ManualMappingCuration
MONDO:0012703	lissencephaly due to TUBA1A mutation	oboInOwl:hasDbXref	Orphanet:171680	Lissencephaly due to TUBA1A mutation	semapv:ManualMappingCuration
MONDO:0012714	early-onset myopathy with fatal cardiomyopathy	oboInOwl:hasDbXref	Orphanet:289377	Early-onset myopathy with fatal cardiomyopathy	semapv:ManualMappingCuration
MONDO:0012716	spondyloepiphyseal dysplasia, Cantu type	oboInOwl:hasDbXref	Orphanet:163654	Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome	semapv:ManualMappingCuration
MONDO:0012718	hypotonia with lactic acidemia and hyperammonemia	oboInOwl:hasDbXref	Orphanet:137908	Hypotonia with lactic acidemia and hyperammonemia	semapv:ManualMappingCuration
MONDO:0012719	combined PSAP deficiency	oboInOwl:hasDbXref	Orphanet:139406	Encephalopathy due to prosaposin deficiency	semapv:ManualMappingCuration
MONDO:0012721	progressive myoclonic epilepsy type 3	oboInOwl:hasDbXref	Orphanet:263516	Progressive myoclonic epilepsy type 3	semapv:ManualMappingCuration
MONDO:0012724	familial cold autoinflammatory syndrome 2	oboInOwl:hasDbXref	Orphanet:247868	NLRP12-associated hereditary periodic fever syndrome	semapv:ManualMappingCuration
MONDO:0012725	lipoprotein glomerulopathy	oboInOwl:hasDbXref	Orphanet:329481	Lipoprotein glomerulopathy	semapv:ManualMappingCuration
MONDO:0012726	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	oboInOwl:hasDbXref	Orphanet:73229	HANAC syndrome	semapv:ManualMappingCuration
MONDO:0012727	mucocutaneous lymph node syndrome	oboInOwl:hasDbXref	Orphanet:2331	Kawasaki disease	semapv:ManualMappingCuration
MONDO:0012733	autosomal recessive bestrophinopathy	oboInOwl:hasDbXref	Orphanet:139455	Autosomal recessive bestrophinopathy	semapv:ManualMappingCuration
MONDO:0012734	SERKAL syndrome	oboInOwl:hasDbXref	Orphanet:139466	SERKAL syndrome	semapv:ManualMappingCuration
MONDO:0012735	Temple-Baraitser syndrome	oboInOwl:hasDbXref	Orphanet:420561	Temple-Baraitser syndrome	semapv:ManualMappingCuration
MONDO:0012739	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	oboInOwl:hasDbXref	Orphanet:139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	semapv:ManualMappingCuration
MONDO:0012740	chromosome 22q11.2 deletion syndrome, distal	oboInOwl:hasDbXref	Orphanet:261330	Distal 22q11.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012747	glycogen storage disease due to aldolase A deficiency	oboInOwl:hasDbXref	Orphanet:57	Glycogen storage disease due to aldolase A deficiency	semapv:ManualMappingCuration
MONDO:0012750	lethal arthrogryposis-anterior horn cell disease syndrome	oboInOwl:hasDbXref	Orphanet:53696	Arthrogryposis-anterior horn cell disease syndrome	semapv:ManualMappingCuration
MONDO:0012755	episodic ataxia type 7	oboInOwl:hasDbXref	Orphanet:209970	Episodic ataxia type 7	semapv:ManualMappingCuration
MONDO:0012756	proximal 16p11.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261197	Proximal 16p11.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012757	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	oboInOwl:hasDbXref	Orphanet:137631	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	semapv:ManualMappingCuration
MONDO:0012759	camptodactyly syndrome, Guadalajara type 3	oboInOwl:hasDbXref	Orphanet:488434	Camptodactyly syndrome, Guadalajara type 3	semapv:ManualMappingCuration
MONDO:0012761	chromosome 3q29 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:251038	3q29 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0012764	RIDDLE syndrome	oboInOwl:hasDbXref	Orphanet:420741	RIDDLE syndrome	semapv:ManualMappingCuration
MONDO:0012766	hereditary spastic paraplegia 37	oboInOwl:hasDbXref	Orphanet:171612	Autosomal dominant spastic paraplegia type 37	semapv:ManualMappingCuration
MONDO:0012774	chromosome 15q13.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:199318	15q13.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012783	RFT1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:244310	RFT1-CDG	semapv:ManualMappingCuration
MONDO:0012784	autosomal recessive ataxia due to ubiquinone deficiency	oboInOwl:hasDbXref	Orphanet:139485	Autosomal recessive ataxia due to ubiquinone deficiency	semapv:ManualMappingCuration
MONDO:0012786	juvenile cataract-microcornea-renal glucosuria syndrome	oboInOwl:hasDbXref	Orphanet:247794	Juvenile cataract-microcornea-renal glucosuria syndrome	semapv:ManualMappingCuration
MONDO:0012787	hereditary spastic paraplegia 39	oboInOwl:hasDbXref	Orphanet:139480	Autosomal recessive spastic paraplegia type 39	semapv:ManualMappingCuration
MONDO:0012789	dystonia 16	oboInOwl:hasDbXref	Orphanet:210571	Dystonia 16	semapv:ManualMappingCuration
MONDO:0012791	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	oboInOwl:hasDbXref	Orphanet:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	semapv:ManualMappingCuration
MONDO:0012792	mitochondrial DNA depletion syndrome 8a	oboInOwl:hasDbXref	Orphanet:255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	semapv:ManualMappingCuration
MONDO:0012794	ANE syndrome	oboInOwl:hasDbXref	Orphanet:157954	ANE syndrome	semapv:ManualMappingCuration
MONDO:0012802	oculoauricular syndrome	oboInOwl:hasDbXref	Orphanet:157962	Oculoauricular syndrome, Schorderet type	semapv:ManualMappingCuration
MONDO:0012803	diarrhea-vomiting due to trehalase deficiency	oboInOwl:hasDbXref	Orphanet:103909	Trehalase deficiency	semapv:ManualMappingCuration
MONDO:0012805	childhood onset GLUT1 deficiency syndrome 2	oboInOwl:hasDbXref	Orphanet:98811	Paroxysmal exertion-induced dyskinesia	semapv:ManualMappingCuration
MONDO:0012807	epidermolysis bullosa simplex 5C, with pyloric atresia	oboInOwl:hasDbXref	Orphanet:158684	Epidermolysis bullosa simplex with pyloric atresia	semapv:ManualMappingCuration
MONDO:0012809	histiocytoma, Angiomatoid fibrous	oboInOwl:hasDbXref	Orphanet:569164	Angiomatoid fibrous histiocytoma	semapv:ManualMappingCuration
MONDO:0012812	developmental and epileptic encephalopathy, 4	oboInOwl:hasDbXref	Orphanet:599373	STXBP1-related encephalopathy	semapv:ManualMappingCuration
MONDO:0012815	Coats plus syndrome	oboInOwl:hasDbXref	Orphanet:313838	Coats plus syndrome	semapv:ManualMappingCuration
MONDO:0012817	Ewing sarcoma	oboInOwl:hasDbXref	Orphanet:319	Skeletal Ewing sarcoma	semapv:ManualMappingCuration
MONDO:0012824	hypomyelinating leukodystrophy 4	oboInOwl:hasDbXref	Orphanet:280288	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	semapv:ManualMappingCuration
MONDO:0012825	extraskeletal myxoid chondrosarcoma	oboInOwl:hasDbXref	Orphanet:209916	Extraskeletal myxoid chondrosarcoma	semapv:ManualMappingCuration
MONDO:0012830	chromosome 10q23 deletion syndrome	oboInOwl:hasDbXref	Orphanet:276413	10q22.3q23.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012833	Crouzon syndrome-acanthosis nigricans syndrome	oboInOwl:hasDbXref	Orphanet:93262	Crouzon syndrome-acanthosis nigricans syndrome	semapv:ManualMappingCuration
MONDO:0012839	pyogenic bacterial infections due to MyD88 deficiency	oboInOwl:hasDbXref	Orphanet:183713	OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency	semapv:ManualMappingCuration
MONDO:0012853	Fontaine progeroid syndrome	oboInOwl:hasDbXref	Orphanet:2095	Gorlin-Chaudhry-Moss syndrome	semapv:ManualMappingCuration
MONDO:0012853	Fontaine progeroid syndrome	oboInOwl:hasDbXref	Orphanet:2963	Progeroid syndrome, Petty type	semapv:ManualMappingCuration
MONDO:0012854	bilateral microtia-deafness-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:140963	Bilateral microtia-deafness-cleft palate syndrome	semapv:ManualMappingCuration
MONDO:0012856	Birk-Barel syndrome	oboInOwl:hasDbXref	Orphanet:166108	Birk-Barel syndrome	semapv:ManualMappingCuration
MONDO:0012858	primary CD59 deficiency	oboInOwl:hasDbXref	Orphanet:169464	Primary CD59 deficiency	semapv:ManualMappingCuration
MONDO:0012859	autosomal recessive osteopetrosis 7	oboInOwl:hasDbXref	Orphanet:178389	Osteopetrosis-hypogammaglobulinemia syndrome	semapv:ManualMappingCuration
MONDO:0012864	chromosome 2q32-q33 deletion syndrome	oboInOwl:hasDbXref	Orphanet:251019	2q32q33 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012864	chromosome 2q32-q33 deletion syndrome	oboInOwl:hasDbXref	Orphanet:576283	SATB2-associated syndrome due to a pathogenic variant	semapv:ManualMappingCuration
MONDO:0012866	hereditary spastic paraplegia 35	oboInOwl:hasDbXref	Orphanet:171629	Autosomal recessive spastic paraplegia type 35	semapv:ManualMappingCuration
MONDO:0012867	hereditary spastic paraplegia 38	oboInOwl:hasDbXref	Orphanet:171617	Autosomal dominant spastic paraplegia type 38	semapv:ManualMappingCuration
MONDO:0012868	thrombophilia due to protein S deficiency, autosomal dominant	oboInOwl:hasDbXref	Orphanet:26349	Protein S acquired deficiency	semapv:ManualMappingCuration
MONDO:0012873	Ehlers-Danlos syndrome, spondylocheirodysplastic type	oboInOwl:hasDbXref	Orphanet:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0012883	acute promyelocytic leukemia	oboInOwl:hasDbXref	Orphanet:520	Acute promyelocytic leukemia	semapv:ManualMappingCuration
MONDO:0012885	SRD5A3-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:324737	SRD5A3-CDG	semapv:ManualMappingCuration
MONDO:0012892	bone fragility with contractures, arterial rupture, and deafness	oboInOwl:hasDbXref	Orphanet:300284	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	semapv:ManualMappingCuration
MONDO:0012895	torsion dystonia 17	oboInOwl:hasDbXref	Orphanet:370103	Primary dystonia, DYT17 type	semapv:ManualMappingCuration
MONDO:0012897	congenital factor XI deficiency	oboInOwl:hasDbXref	Orphanet:329	Congenital factor XI deficiency	semapv:ManualMappingCuration
MONDO:0012901	inherited prekallikrein deficiency	oboInOwl:hasDbXref	Orphanet:749	Congenital prekallikrein deficiency	semapv:ManualMappingCuration
MONDO:0012905	hypomyelinating leukodystrophy 6	oboInOwl:hasDbXref	Orphanet:139441	Hypomyelination with atrophy of basal ganglia and cerebellum	semapv:ManualMappingCuration
MONDO:0012907	blindness - scoliosis - arachnodactyly syndrome	oboInOwl:hasDbXref	Orphanet:171844	Blindness-scoliosis-arachnodactyly syndrome	semapv:ManualMappingCuration
MONDO:0012911	pseudohypoparathyroidism type 1C	oboInOwl:hasDbXref	Orphanet:79444	Pseudohypoparathyroidism type 1C	semapv:ManualMappingCuration
MONDO:0012912	pseudopseudohypoparathyroidism	oboInOwl:hasDbXref	Orphanet:665	Albright hereditary osteodystrophy	semapv:ManualMappingCuration
MONDO:0012912	pseudopseudohypoparathyroidism	oboInOwl:hasDbXref	Orphanet:79445	Pseudopseudohypoparathyroidism	semapv:ManualMappingCuration
MONDO:0012914	chromosome 1q21.1 deletion syndrome	oboInOwl:hasDbXref	Orphanet:250989	1q21.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012915	chromosome 1q21.1 duplication syndrome	oboInOwl:hasDbXref	Orphanet:250994	1q21.1 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0012916	chromosome 2p16.1-p15 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261349	2p15p16.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012927	chromosome 1q41-q42 deletion syndrome	oboInOwl:hasDbXref	Orphanet:250999	1q41q42 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0012928	hereditary spastic paraplegia 42	oboInOwl:hasDbXref	Orphanet:171863	Autosomal dominant spastic paraplegia type 42	semapv:ManualMappingCuration
MONDO:0012929	Compton-North congenital myopathy	oboInOwl:hasDbXref	Orphanet:210163	Congenital lethal myopathy, Compton-North type	semapv:ManualMappingCuration
MONDO:0012930	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	oboInOwl:hasDbXref	Orphanet:331176	Severe congenital neutropenia due to G6PC3 deficiency	semapv:ManualMappingCuration
MONDO:0012948	chromosome 6pter-p24 deletion syndrome	oboInOwl:hasDbXref	Orphanet:96125	Distal deletion 6p syndrome	semapv:ManualMappingCuration
MONDO:0012960	intellectual disability, autosomal dominant 5	oboInOwl:hasDbXref	Orphanet:544254	SYNGAP1-related developmental and epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0012964	chromosome 15q26-qter deletion syndrome	oboInOwl:hasDbXref	Orphanet:1596	Distal deletion 15q syndrome	semapv:ManualMappingCuration
MONDO:0012967	hemolytic anemia due to adenylate kinase deficiency	oboInOwl:hasDbXref	Orphanet:86817	Hemolytic anemia due to adenylate kinase deficiency	semapv:ManualMappingCuration
MONDO:0012980	endocrine-cerebro-osteodysplasia syndrome	oboInOwl:hasDbXref	Orphanet:199332	Endocrine-cerebro-osteodysplasia syndrome	semapv:ManualMappingCuration
MONDO:0012982	episodic ataxia type 6	oboInOwl:hasDbXref	Orphanet:209967	Episodic ataxia type 6	semapv:ManualMappingCuration
MONDO:0012984	PHARC syndrome	oboInOwl:hasDbXref	Orphanet:171848	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	semapv:ManualMappingCuration
MONDO:0012986	bilateral parasagittal parieto-occipital polymicrogyria	oboInOwl:hasDbXref	Orphanet:208441	Bilateral parasagittal parieto-occipital polymicrogyria	semapv:ManualMappingCuration
MONDO:0012991	Kahrizi syndrome	oboInOwl:hasDbXref	Orphanet:168972	Kahrizi syndrome	semapv:ManualMappingCuration
MONDO:0012992	pancreatic insufficiency-anemia-hyperostosis syndrome	oboInOwl:hasDbXref	Orphanet:199337	Pancreatic insufficiency-anemia-hyperostosis syndrome	semapv:ManualMappingCuration
MONDO:0012994	dopa-responsive dystonia due to sepiapterin reductase deficiency	oboInOwl:hasDbXref	Orphanet:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	semapv:ManualMappingCuration
MONDO:0012996	AGAT deficiency	oboInOwl:hasDbXref	Orphanet:35704	L-Arginine:glycine amidinotransferase deficiency	semapv:ManualMappingCuration
MONDO:0012997	cholestasis-pigmentary retinopathy-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:1415	Hardikar syndrome	semapv:ManualMappingCuration
MONDO:0012999	guanidinoacetate methyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:382	Guanidinoacetate methyltransferase deficiency	semapv:ManualMappingCuration
MONDO:0013000	porphyria due to ALA dehydratase deficiency	oboInOwl:hasDbXref	Orphanet:100924	Porphyria due to ALA dehydratase deficiency	semapv:ManualMappingCuration
MONDO:0013003	isolated congenital hypoglossia/aglossia	oboInOwl:hasDbXref	Orphanet:141152	Isolated congenital hypoglossia/aglossia	semapv:ManualMappingCuration
MONDO:0013005	EAST syndrome	oboInOwl:hasDbXref	Orphanet:199343	EAST syndrome	semapv:ManualMappingCuration
MONDO:0013006	isolated growth hormone deficiency type IB	oboInOwl:hasDbXref	Orphanet:231671	Isolated growth hormone deficiency type IB	semapv:ManualMappingCuration
MONDO:0013007	combined immunodeficiency due to ORAI1 deficiency	oboInOwl:hasDbXref	Orphanet:317428	Combined immunodeficiency due to ORAI1 deficiency	semapv:ManualMappingCuration
MONDO:0013008	combined immunodeficiency due to STIM1 deficiency	oboInOwl:hasDbXref	Orphanet:317430	Combined immunodeficiency due to STIM1 deficiency	semapv:ManualMappingCuration
MONDO:0013014	spondyloepimetaphyseal dysplasia, aggrecan type	oboInOwl:hasDbXref	Orphanet:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	semapv:ManualMappingCuration
MONDO:0013016	leukocyte adhesion deficiency 3	oboInOwl:hasDbXref	Orphanet:99844	Leukocyte adhesion deficiency type III	semapv:ManualMappingCuration
MONDO:0013021	sterile multifocal osteomyelitis with periostitis and pustulosis	oboInOwl:hasDbXref	Orphanet:210115	Sterile multifocal osteomyelitis with periostitis and pustulosis	semapv:ManualMappingCuration
MONDO:0013024	chronic thromboembolic pulmonary hypertension	oboInOwl:hasDbXref	Orphanet:70591	Chronic thromboembolic pulmonary hypertension	semapv:ManualMappingCuration
MONDO:0013025	chromosome 6q24-q25 deletion syndrome	oboInOwl:hasDbXref	Orphanet:251056	6q25.2q25.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013026	subepithelial mucinous corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98959	Subepithelial mucinous corneal dystrophy	semapv:ManualMappingCuration
MONDO:0013027	posterior amorphous corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98971	Posterior amorphous corneal dystrophy	semapv:ManualMappingCuration
MONDO:0013028	adenosine monophosphate deaminase deficiency	oboInOwl:hasDbXref	Orphanet:45	Adenosine monophosphate deaminase deficiency	semapv:ManualMappingCuration
MONDO:0013035	orofaciodigital syndrome XI	oboInOwl:hasDbXref	Orphanet:141000	Orofaciodigital syndrome type 11	semapv:ManualMappingCuration
MONDO:0013036	Zechi-Ceide syndrome	oboInOwl:hasDbXref	Orphanet:217017	Zechi-Ceide syndrome	semapv:ManualMappingCuration
MONDO:0013038	CLOVES syndrome	oboInOwl:hasDbXref	Orphanet:140944	CLOVES syndrome	semapv:ManualMappingCuration
MONDO:0013040	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	oboInOwl:hasDbXref	Orphanet:93576	OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly	semapv:ManualMappingCuration
MONDO:0013041	atypical hemolytic-uremic syndrome with I factor anomaly	oboInOwl:hasDbXref	Orphanet:93580	OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly	semapv:ManualMappingCuration
MONDO:0013042	atypical hemolytic-uremic syndrome with B factor anomaly	oboInOwl:hasDbXref	Orphanet:93578	OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly	semapv:ManualMappingCuration
MONDO:0013043	atypical hemolytic-uremic syndrome with C3 anomaly	oboInOwl:hasDbXref	Orphanet:93575	OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly	semapv:ManualMappingCuration
MONDO:0013044	atypical hemolytic-uremic syndrome with thrombomodulin anomaly	oboInOwl:hasDbXref	Orphanet:217023	OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly	semapv:ManualMappingCuration
MONDO:0013046	glycogen storage disease due to muscle beta-enolase deficiency	oboInOwl:hasDbXref	Orphanet:99849	Glycogen storage disease due to muscle beta-enolase deficiency	semapv:ManualMappingCuration
MONDO:0013047	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	oboInOwl:hasDbXref	Orphanet:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	semapv:ManualMappingCuration
MONDO:0013049	DPM3-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:263494	DPM3-CDG	semapv:ManualMappingCuration
MONDO:0013050	lethal polymalformative syndrome, Boissel type	oboInOwl:hasDbXref	Orphanet:210144	Lethal polymalformative syndrome, Boissel type	semapv:ManualMappingCuration
MONDO:0013051	autosomal recessive cutis laxa type 2B	oboInOwl:hasDbXref	Orphanet:357064	Autosomal recessive cutis laxa type 2B	semapv:ManualMappingCuration
MONDO:0013053	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	oboInOwl:hasDbXref	Orphanet:217026	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	semapv:ManualMappingCuration
MONDO:0013056	developmental and epileptic encephalopathy, 39	oboInOwl:hasDbXref	Orphanet:353217	Epileptic encephalopathy with global cerebral demyelination	semapv:ManualMappingCuration
MONDO:0013058	cystic leukoencephalopathy without megalencephaly	oboInOwl:hasDbXref	Orphanet:85136	Cystic leukoencephalopathy without megalencephaly	semapv:ManualMappingCuration
MONDO:0013060	autosomal recessive Parkinson disease 14	oboInOwl:hasDbXref	Orphanet:199351	Adult-onset dystonia-parkinsonism	semapv:ManualMappingCuration
MONDO:0013061	myofibrillar myopathy 6	oboInOwl:hasDbXref	Orphanet:199340	Muscular dystrophy, Selcen type	semapv:ManualMappingCuration
MONDO:0013069	autosomal recessive optic atrophy, OPA7 type	oboInOwl:hasDbXref	Orphanet:227976	Autosomal recessive optic atrophy, OPA7 type	semapv:ManualMappingCuration
MONDO:0013074	encephalocraniocutaneous lipomatosis	oboInOwl:hasDbXref	Orphanet:2396	Encephalocraniocutaneous lipomatosis	semapv:ManualMappingCuration
MONDO:0013081	lymphoproliferative syndrome 1	oboInOwl:hasDbXref	Orphanet:538963	Combined immunodeficiency due to ITK deficiency	semapv:ManualMappingCuration
MONDO:0013082	Hirschsprung disease-ganglioneuroblastoma syndrome	oboInOwl:hasDbXref	Orphanet:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	semapv:ManualMappingCuration
MONDO:0013090	chromosome 19q13.11 deletion syndrome	oboInOwl:hasDbXref	Orphanet:217346	19q13.11 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013099	combined pituitary hormone deficiencies, genetic form	oboInOwl:hasDbXref	Orphanet:95494	Combined pituitary hormone deficiencies, genetic forms	semapv:ManualMappingCuration
MONDO:0013110	neurodegenerative syndrome due to cerebral folate transport deficiency	oboInOwl:hasDbXref	Orphanet:217382	Neurodegenerative syndrome due to cerebral folate transport deficiency	semapv:ManualMappingCuration
MONDO:0013111	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	oboInOwl:hasDbXref	Orphanet:217371	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	semapv:ManualMappingCuration
MONDO:0013115	RIN2 syndrome	oboInOwl:hasDbXref	Orphanet:217335	RIN2 syndrome	semapv:ManualMappingCuration
MONDO:0013116	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0013118	Nijmegen breakage syndrome-like disorder	oboInOwl:hasDbXref	Orphanet:240760	Nijmegen breakage syndrome-like disorder	semapv:ManualMappingCuration
MONDO:0013125	CLAPO syndrome	oboInOwl:hasDbXref	Orphanet:168984	CLAPO syndrome	semapv:ManualMappingCuration
MONDO:0013127	asphyxiating thoracic dystrophy 3	oboInOwl:hasDbXref	Orphanet:93270	Short rib-polydactyly syndrome, Saldino-Noonan type	semapv:ManualMappingCuration
MONDO:0013127	asphyxiating thoracic dystrophy 3	oboInOwl:hasDbXref	Orphanet:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	semapv:ManualMappingCuration
MONDO:0013128	familial juvenile hyperuricemic nephropathy type 2	oboInOwl:hasDbXref	Orphanet:217330	REN-related autosomal dominant tubulointerstitial kidney disease	semapv:ManualMappingCuration
MONDO:0013132	hereditary spastic paraplegia 36	oboInOwl:hasDbXref	Orphanet:320365	Autosomal dominant spastic paraplegia type 36	semapv:ManualMappingCuration
MONDO:0013136	hereditary hypotrichosis with recurrent skin vesicles	oboInOwl:hasDbXref	Orphanet:217407	Hereditary hypotrichosis with recurrent skin vesicles	semapv:ManualMappingCuration
MONDO:0013143	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	oboInOwl:hasDbXref	Orphanet:217467	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	semapv:ManualMappingCuration
MONDO:0013144	hereditary antithrombin deficiency	oboInOwl:hasDbXref	Orphanet:82	Hereditary thrombophilia due to congenital antithrombin deficiency	semapv:ManualMappingCuration
MONDO:0013150	parkinsonism-dystonia, infantile	oboInOwl:hasDbXref	Orphanet:238455	Infantile dystonia-parkinsonism	semapv:ManualMappingCuration
MONDO:0013161	autosomal recessive limb-girdle muscular dystrophy type 2O	oboInOwl:hasDbXref	Orphanet:206564	POMGNT1-related limb-girdle muscular dystrophy R15	semapv:ManualMappingCuration
MONDO:0013162	autosomal recessive limb-girdle muscular dystrophy type 2N	oboInOwl:hasDbXref	Orphanet:206559	POMT2-related limb-girdle muscular dystrophy R14	semapv:ManualMappingCuration
MONDO:0013164	beta-ureidopropionase deficiency	oboInOwl:hasDbXref	Orphanet:65287	Beta-ureidopropionase deficiency	semapv:ManualMappingCuration
MONDO:0013165	hereditary spastic paraplegia 45	oboInOwl:hasDbXref	Orphanet:320396	Autosomal recessive spastic paraplegia type 45	semapv:ManualMappingCuration
MONDO:0013166	GABA aminotransaminase deficiency	oboInOwl:hasDbXref	Orphanet:2066	Gamma-aminobutyric acid transaminase deficiency	semapv:ManualMappingCuration
MONDO:0013169	chromosome 5p13 duplication syndrome	oboInOwl:hasDbXref	Orphanet:329802	5p13 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0013170	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	oboInOwl:hasDbXref	Orphanet:221145	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	semapv:ManualMappingCuration
MONDO:0013171	purine nucleoside phosphorylase deficiency	oboInOwl:hasDbXref	Orphanet:760	Purine nucleoside phosphorylase deficiency	semapv:ManualMappingCuration
MONDO:0013172	polymicrogyria with optic nerve hypoplasia	oboInOwl:hasDbXref	Orphanet:250972	Polymicrogyria with optic nerve hypoplasia	semapv:ManualMappingCuration
MONDO:0013176	Weill-Marchesani 4 syndrome, recessive	oboInOwl:hasDbXref	Orphanet:363992	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	semapv:ManualMappingCuration
MONDO:0013177	congenital muscular dystrophy due to integrin alpha-7 deficiency	oboInOwl:hasDbXref	Orphanet:34520	Congenital muscular dystrophy with integrin alpha-7 deficiency	semapv:ManualMappingCuration
MONDO:0013178	congenital muscular dystrophy due to LMNA mutation	oboInOwl:hasDbXref	Orphanet:157973	Congenital muscular dystrophy due to LMNA mutation	semapv:ManualMappingCuration
MONDO:0013179	hereditary spastic paraplegia 44	oboInOwl:hasDbXref	Orphanet:320401	Autosomal recessive spastic paraplegia type 44	semapv:ManualMappingCuration
MONDO:0013182	chromosome 17p13.3 duplication syndrome	oboInOwl:hasDbXref	Orphanet:217385	17p13.3 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0013184	congenital diarrhea 5 with tufting enteropathy	oboInOwl:hasDbXref	Orphanet:92050	Congenital tufting enteropathy	semapv:ManualMappingCuration
MONDO:0013208	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome	oboInOwl:hasDbXref	Orphanet:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	semapv:ManualMappingCuration
MONDO:0013209	metabolic dysfunction-associated steatotic liver disease	oboInOwl:hasDbXref	Orphanet:33271	NON RARE IN EUROPE: Non-alcoholic fatty liver disease	semapv:ManualMappingCuration
MONDO:0013212	Charcot-Marie-Tooth disease axonal type 2N	oboInOwl:hasDbXref	Orphanet:228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N	semapv:ManualMappingCuration
MONDO:0013214	bile acid malabsorption, primary, 1	oboInOwl:hasDbXref	Orphanet:449262	NON RARE IN EUROPE: Primary bile acid malabsorption	semapv:ManualMappingCuration
MONDO:0013222	Miyoshi muscular dystrophy 3	oboInOwl:hasDbXref	Orphanet:399096	Distal anoctaminopathy	semapv:ManualMappingCuration
MONDO:0013223	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	oboInOwl:hasDbXref	Orphanet:401979	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type	semapv:ManualMappingCuration
MONDO:0013225	congenital generalized lipodystrophy type 4	oboInOwl:hasDbXref	Orphanet:228429	Generalized congenital lipodystrophy with myopathy	semapv:ManualMappingCuration
MONDO:0013226	combined immunodeficiency with faciooculoskeletal anomalies	oboInOwl:hasDbXref	Orphanet:221139	Combined immunodeficiency with facio-oculo-skeletal anomalies	semapv:ManualMappingCuration
MONDO:0013227	congenital plasminogen activator inhibitor type 1 deficiency	oboInOwl:hasDbXref	Orphanet:465	Congenital plasminogen activator inhibitor type 1 deficiency	semapv:ManualMappingCuration
MONDO:0013228	spondylo-megaepiphyseal-metaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:228387	Spondylo-megaepiphyseal-metaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0013229	hot water reflex epilepsy	oboInOwl:hasDbXref	Orphanet:166412	Hot water reflex epilepsy	semapv:ManualMappingCuration
MONDO:0013232	brachydactylous dwarfism, Mseleni type	oboInOwl:hasDbXref	Orphanet:2619	Brachydactylous dwarfism, Mseleni type	semapv:ManualMappingCuration
MONDO:0013233	spondyloepimetaphyseal dysplasia, Handigodu type	oboInOwl:hasDbXref	Orphanet:99642	Spondyloepimetaphyseal dysplasia, Handigodu type	semapv:ManualMappingCuration
MONDO:0013238	chromosome 17q23.1-q23.2 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261279	17q23.1q23.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013239	hereditary spastic paraplegia 41	oboInOwl:hasDbXref	Orphanet:320355	Autosomal dominant spastic paraplegia type 41	semapv:ManualMappingCuration
MONDO:0013241	spinocerebellar ataxia type 30	oboInOwl:hasDbXref	Orphanet:211017	Spinocerebellar ataxia type 30	semapv:ManualMappingCuration
MONDO:0013245	syndromic multisystem autoimmune disease due to ITCH deficiency	oboInOwl:hasDbXref	Orphanet:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	semapv:ManualMappingCuration
MONDO:0013252	Warsaw breakage syndrome	oboInOwl:hasDbXref	Orphanet:280558	Warsaw breakage syndrome	semapv:ManualMappingCuration
MONDO:0013254	microcephaly, seizures, and developmental delay	oboInOwl:hasDbXref	Orphanet:228418	OBSOLETE: Microcephaly-seizures-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0013256	chromosome 15q24 deletion syndrome	oboInOwl:hasDbXref	Orphanet:94065	15q24 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013266	intellectual disability, autosomal dominant 20	oboInOwl:hasDbXref	Orphanet:664410	Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0013267	distal 16p11.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261222	Distal 16p11.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013268	frontonasal dysplasia with alopecia and genital anomaly	oboInOwl:hasDbXref	Orphanet:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0013271	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	oboInOwl:hasDbXref	Orphanet:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	semapv:ManualMappingCuration
MONDO:0013272	chromosome 14q11-q22 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261120	14q11.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013273	chromosome 16p13.3 duplication syndrome	oboInOwl:hasDbXref	Orphanet:96078	16p13.3 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0013275	hemolytic anemia due to glucophosphate isomerase deficiency	oboInOwl:hasDbXref	Orphanet:712	Hemolytic anemia due to glucophosphate isomerase deficiency	semapv:ManualMappingCuration
MONDO:0013276	Reynolds syndrome	oboInOwl:hasDbXref	Orphanet:779	Reynolds syndrome	semapv:ManualMappingCuration
MONDO:0013281	COG4-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:263501	COG4-CDG	semapv:ManualMappingCuration
MONDO:0013282	alpha 1-antitrypsin deficiency	oboInOwl:hasDbXref	Orphanet:60	Alpha-1-antitrypsin deficiency	semapv:ManualMappingCuration
MONDO:0013291	glycogen storage disease XV	oboInOwl:hasDbXref	Orphanet:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	semapv:ManualMappingCuration
MONDO:0013292	chromosome 4q21 deletion syndrome	oboInOwl:hasDbXref	Orphanet:238750	4q21 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013296	myeloid neoplasm associated with FGFR1 rearrangement	oboInOwl:hasDbXref	Orphanet:168953	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	semapv:ManualMappingCuration
MONDO:0013297	autosomal dominant limb-girdle muscular dystrophy type 1H	oboInOwl:hasDbXref	Orphanet:238755	OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H	semapv:ManualMappingCuration
MONDO:0013298	chromosome 17q21.31 duplication syndrome	oboInOwl:hasDbXref	Orphanet:217340	17q21.31 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0013300	commissural facial cleft	oboInOwl:hasDbXref	Orphanet:141276	Tessier number 7 facial cleft	semapv:ManualMappingCuration
MONDO:0013301	aromatase deficiency	oboInOwl:hasDbXref	Orphanet:91	Aromatase deficiency	semapv:ManualMappingCuration
MONDO:0013304	von Willebrand disease 2	oboInOwl:hasDbXref	Orphanet:166081	Von Willebrand disease type 2	semapv:ManualMappingCuration
MONDO:0013306	combined oxidative phosphorylation defect type 7	oboInOwl:hasDbXref	Orphanet:254930	Combined oxidative phosphorylation defect type 7	semapv:ManualMappingCuration
MONDO:0013308	CBL-related disorder	oboInOwl:hasDbXref	Orphanet:363972	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	semapv:ManualMappingCuration
MONDO:0013310	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	oboInOwl:hasDbXref	Orphanet:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	semapv:ManualMappingCuration
MONDO:0013311	ectodermal dysplasia-syndactyly syndrome	oboInOwl:hasDbXref	Orphanet:247820	Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome	semapv:ManualMappingCuration
MONDO:0013313	ectodermal dysplasia-cutaneous syndactyly syndrome	oboInOwl:hasDbXref	Orphanet:247827	Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome	semapv:ManualMappingCuration
MONDO:0013316	occult macular dystrophy	oboInOwl:hasDbXref	Orphanet:247834	Occult macular dystrophy	semapv:ManualMappingCuration
MONDO:0013317	torsade-de-pointes syndrome with short coupling interval	oboInOwl:hasDbXref	Orphanet:51084	Torsade-de-pointes syndrome with short coupling interval	semapv:ManualMappingCuration
MONDO:0013320	chromosome 16p12.2-p11.2 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261211	16p11.2p12.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013324	lymphedema-posterior choanal atresia syndrome	oboInOwl:hasDbXref	Orphanet:99141	Lymphedema-posterior choanal atresia syndrome	semapv:ManualMappingCuration
MONDO:0013325	COG5-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:263487	COG5-CDG	semapv:ManualMappingCuration
MONDO:0013327	primary hyperoxaluria type 3	oboInOwl:hasDbXref	Orphanet:93600	Primary hyperoxaluria type 3	semapv:ManualMappingCuration
MONDO:0013329	familial clubfoot due to 17q23.1q23.2 microduplication	oboInOwl:hasDbXref	Orphanet:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	semapv:ManualMappingCuration
MONDO:0013334	cocoon syndrome	oboInOwl:hasDbXref	Orphanet:465824	Fetal encasement syndrome	semapv:ManualMappingCuration
MONDO:0013336	chromosome 19p13.13 deletion syndrome	oboInOwl:hasDbXref	Orphanet:357001	19p13.13 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013338	Charcot-Marie-Tooth disease recessive intermediate B	oboInOwl:hasDbXref	Orphanet:254334	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	semapv:ManualMappingCuration
MONDO:0013341	methylmalonic acidemia due to transcobalamin receptor defect	oboInOwl:hasDbXref	Orphanet:280183	Methylmalonic aciduria due to transcobalamin receptor defect	semapv:ManualMappingCuration
MONDO:0013342	hereditary spastic paraplegia 48	oboInOwl:hasDbXref	Orphanet:306511	Autosomal recessive spastic paraplegia type 48	semapv:ManualMappingCuration
MONDO:0013349	ALG11-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:280071	ALG11-CDG	semapv:ManualMappingCuration
MONDO:0013351	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	oboInOwl:hasDbXref	Orphanet:402364	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	semapv:ManualMappingCuration
MONDO:0013352	intellectual disability-severe speech delay-mild dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:391372	FOXP1 Syndrome	semapv:ManualMappingCuration
MONDO:0013353	intellectual disability, anterior maxillary protrusion, and strabismus	oboInOwl:hasDbXref	Orphanet:562559	Anterior maxillary protrusion-strabismus-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0013354	spastic ataxia 4	oboInOwl:hasDbXref	Orphanet:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	semapv:ManualMappingCuration
MONDO:0013355	congenital dyserythropoietic anemia type 4	oboInOwl:hasDbXref	Orphanet:293825	Congenital dyserythropoietic anemia type IV	semapv:ManualMappingCuration
MONDO:0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb	oboInOwl:hasDbXref	Orphanet:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb	oboInOwl:hasDbXref	Orphanet:97685	17q11 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013359	familial hyperaldosteronism type III	oboInOwl:hasDbXref	Orphanet:251274	Familial hyperaldosteronism type III	semapv:ManualMappingCuration
MONDO:0013360	brachyolmia, Maroteaux type	oboInOwl:hasDbXref	Orphanet:93302	Brachyolmia, Maroteaux type	semapv:ManualMappingCuration
MONDO:0013361	congenital prothrombin deficiency	oboInOwl:hasDbXref	Orphanet:325	Congenital factor II deficiency	semapv:ManualMappingCuration
MONDO:0013362	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0013363	chromosome 2q31.1 duplication syndrome	oboInOwl:hasDbXref	Orphanet:294026	Syndactyly-nystagmus syndrome due to 2q31.1 microduplication	semapv:ManualMappingCuration
MONDO:0013364	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	oboInOwl:hasDbXref	Orphanet:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	semapv:ManualMappingCuration
MONDO:0013368	mammary-digital-nail syndrome	oboInOwl:hasDbXref	Orphanet:238744	Mammary-digital-nail syndrome	semapv:ManualMappingCuration
MONDO:0013382	progressive demyelinating neuropathy with bilateral striatal necrosis	oboInOwl:hasDbXref	Orphanet:217396	Progressive polyneuropathy with bilateral striatal necrosis	semapv:ManualMappingCuration
MONDO:0013387	developmental and epileptic encephalopathy, 7	oboInOwl:hasDbXref	Orphanet:439218	KCNQ2-related epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0013390	autosomal recessive limb-girdle muscular dystrophy type 2Q	oboInOwl:hasDbXref	Orphanet:254361	Plectin-related limb-girdle muscular dystrophy R17	semapv:ManualMappingCuration
MONDO:0013391	sterol carrier protein 2 deficiency	oboInOwl:hasDbXref	Orphanet:163684	Leukoencephalopathy-dystonia-motor neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0013392	autosomal recessive spinocerebellar ataxia 10	oboInOwl:hasDbXref	Orphanet:284289	Adult-onset autosomal recessive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0013393	distal 7q11.23 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:254351	Distal 7q11.23 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013394	porencephaly-microcephaly-bilateral congenital cataract syndrome	oboInOwl:hasDbXref	Orphanet:306547	Porencephaly-microcephaly-bilateral congenital cataract syndrome	semapv:ManualMappingCuration
MONDO:0013396	chromosome 1p32-p31 deletion syndrome	oboInOwl:hasDbXref	Orphanet:401986	1p31p32 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013400	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	oboInOwl:hasDbXref	Orphanet:168558	46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency	semapv:ManualMappingCuration
MONDO:0013404	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	oboInOwl:hasDbXref	Orphanet:88618	S-adenosylhomocysteine hydrolase deficiency	semapv:ManualMappingCuration
MONDO:0013408	FADD-related immunodeficiency	oboInOwl:hasDbXref	Orphanet:306550	FADD-related immunodeficiency	semapv:ManualMappingCuration
MONDO:0013417	complement component 3 deficiency	oboInOwl:hasDbXref	Orphanet:280133	Complement component 3 deficiency	semapv:ManualMappingCuration
MONDO:0013423	immunodeficiency due to MASP-2 deficiency	oboInOwl:hasDbXref	Orphanet:331187	Immunodeficiency due to MASP-2 deficiency	semapv:ManualMappingCuration
MONDO:0013424	3p- syndrome	oboInOwl:hasDbXref	Orphanet:1620	Distal deletion 3p syndrome	semapv:ManualMappingCuration
MONDO:0013426	aneurysm-osteoarthritis syndrome	oboInOwl:hasDbXref	Orphanet:284984	Aneurysm-osteoarthritis syndrome	semapv:ManualMappingCuration
MONDO:0013427	immunodeficiency 31B	oboInOwl:hasDbXref	Orphanet:391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency	semapv:ManualMappingCuration
MONDO:0013433	primary sclerosing cholangitis	oboInOwl:hasDbXref	Orphanet:171	Primary sclerosing cholangitis	semapv:ManualMappingCuration
MONDO:0013439	congenital bile acid synthesis defect 3	oboInOwl:hasDbXref	Orphanet:79302	Congenital bile acid synthesis defect type 3	semapv:ManualMappingCuration
MONDO:0013440	autosomal recessive limb-girdle muscular dystrophy type 2P	oboInOwl:hasDbXref	Orphanet:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	semapv:ManualMappingCuration
MONDO:0013452	multisystemic smooth muscle dysfunction syndrome	oboInOwl:hasDbXref	Orphanet:404463	Multisystemic smooth muscle dysfunction syndrome	semapv:ManualMappingCuration
MONDO:0013456	constitutional megaloblastic anemia with severe neurologic disease	oboInOwl:hasDbXref	Orphanet:319651	Constitutional megaloblastic anemia with severe neurologic disease	semapv:ManualMappingCuration
MONDO:0013458	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	oboInOwl:hasDbXref	Orphanet:363694	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	semapv:ManualMappingCuration
MONDO:0013461	inosine triphosphatase deficiency	oboInOwl:hasDbXref	Orphanet:319684	NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency	semapv:ManualMappingCuration
MONDO:0013464	episodic ataxia type 5	oboInOwl:hasDbXref	Orphanet:211067	Episodic ataxia type 5	semapv:ManualMappingCuration
MONDO:0013467	immunodeficiency due to ficolin3 deficiency	oboInOwl:hasDbXref	Orphanet:331190	Immunodeficiency due to ficolin3 deficiency	semapv:ManualMappingCuration
MONDO:0013472	fatal infantile hypertonic myofibrillar myopathy	oboInOwl:hasDbXref	Orphanet:280553	Fatal infantile hypertonic myofibrillar myopathy	semapv:ManualMappingCuration
MONDO:0013478	PLIN1-related familial partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:280356	PLIN1-related familial partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0013481	chromosome 13q14 deletion syndrome	oboInOwl:hasDbXref	Orphanet:1587	Monosomy 13q14 syndrome	semapv:ManualMappingCuration
MONDO:0013485	spinocerebellar ataxia type 35	oboInOwl:hasDbXref	Orphanet:276193	Spinocerebellar ataxia type 35	semapv:ManualMappingCuration
MONDO:0013486	spinocerebellar ataxia type 32	oboInOwl:hasDbXref	Orphanet:276183	Spinocerebellar ataxia type 32	semapv:ManualMappingCuration
MONDO:0013487	recurrent Neisseria infections due to factor D deficiency	oboInOwl:hasDbXref	Orphanet:169467	Recurrent Neisseria infections due to factor D deficiency	semapv:ManualMappingCuration
MONDO:0013512	hemoglobin H disease	oboInOwl:hasDbXref	Orphanet:93616	Hemoglobin H disease	semapv:ManualMappingCuration
MONDO:0013523	Nestor-Guillermo progeria syndrome	oboInOwl:hasDbXref	Orphanet:280576	Nestor-Guillermo progeria syndrome	semapv:ManualMappingCuration
MONDO:0013526	progressive myoclonic epilepsy type 6	oboInOwl:hasDbXref	Orphanet:280620	Progressive myoclonic epilepsy type 6	semapv:ManualMappingCuration
MONDO:0013531	PSPH deficiency	oboInOwl:hasDbXref	Orphanet:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	semapv:ManualMappingCuration
MONDO:0013533	hyperlipidemia due to hepatic triglyceride lipase deficiency	oboInOwl:hasDbXref	Orphanet:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	semapv:ManualMappingCuration
MONDO:0013536	heme oxygenase 1 deficiency	oboInOwl:hasDbXref	Orphanet:562509	Heme oxygenase-1 deficiency	semapv:ManualMappingCuration
MONDO:0013539	hypotonia-failure to thrive-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:79507	Hypotonia-failure to thrive-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0013540	deafness-lymphedema-leukemia syndrome	oboInOwl:hasDbXref	Orphanet:3226	Deafness-lymphedema-leukemia syndrome	semapv:ManualMappingCuration
MONDO:0013541	complex cortical dysplasia with other brain malformations 1	oboInOwl:hasDbXref	Orphanet:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	semapv:ManualMappingCuration
MONDO:0013546	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	oboInOwl:hasDbXref	Orphanet:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	semapv:ManualMappingCuration
MONDO:0013550	distal myopathy with posterior leg and anterior hand involvement	oboInOwl:hasDbXref	Orphanet:63273	Distal myopathy with posterior leg and anterior hand involvement	semapv:ManualMappingCuration
MONDO:0013559	Hermansky-Pudlak syndrome 7	oboInOwl:hasDbXref	Orphanet:231531	Hermansky-Pudlak syndrome due to BLOC-1 deficiency	semapv:ManualMappingCuration
MONDO:0013560	Hermansky-Pudlak syndrome 8	oboInOwl:hasDbXref	Orphanet:231537	Hermansky-Pudlak syndrome type 8	semapv:ManualMappingCuration
MONDO:0013561	chondrodysplasia with joint dislocations, gPAPP type	oboInOwl:hasDbXref	Orphanet:280586	Chondrodysplasia with joint dislocations, gPAPP type	semapv:ManualMappingCuration
MONDO:0013563	multiple congenital anomalies-hypotonia-seizures syndrome 1	oboInOwl:hasDbXref	Orphanet:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	semapv:ManualMappingCuration
MONDO:0013569	short-rib thoracic dysplasia 7 with or without polydactyly	oboInOwl:hasDbXref	Orphanet:498497	Short rib-polydactyly syndrome type 5	semapv:ManualMappingCuration
MONDO:0013570	combined oxidative phosphorylation defect type 8	oboInOwl:hasDbXref	Orphanet:319504	Combined oxidative phosphorylation defect type 8	semapv:ManualMappingCuration
MONDO:0013571	acatalasia	oboInOwl:hasDbXref	Orphanet:926	Acatalasemia	semapv:ManualMappingCuration
MONDO:0013572	Keppen-Lubinsky syndrome	oboInOwl:hasDbXref	Orphanet:435628	Keppen-Lubinsky syndrome	semapv:ManualMappingCuration
MONDO:0013574	cutis laxa - Marfanoid syndrome	oboInOwl:hasDbXref	Orphanet:171719	Cutis laxa-Marfanoid syndrome	semapv:ManualMappingCuration
MONDO:0013576	recurrent infections associated with rare immunoglobulin isotypes deficiency	oboInOwl:hasDbXref	Orphanet:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency	semapv:ManualMappingCuration
MONDO:0013577	Lipedema	oboInOwl:hasDbXref	Orphanet:77243	NON RARE IN EUROPE: Lipedema	semapv:ManualMappingCuration
MONDO:0013578	DYRK1A-related intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:464306	DYRK1A-related intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0013579	methylmalonate semialdehyde dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:289307	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0013580	pyruvate dehydrogenase E1-beta deficiency	oboInOwl:hasDbXref	Orphanet:255138	Pyruvate dehydrogenase E1-beta deficiency	semapv:ManualMappingCuration
MONDO:0013583	occipital pachygyria and polymicrogyria	oboInOwl:hasDbXref	Orphanet:280640	Occipital pachygyria and polymicrogyria	semapv:ManualMappingCuration
MONDO:0013584	hereditary sensory neuropathy-deafness-dementia syndrome	oboInOwl:hasDbXref	Orphanet:456318	Hereditary sensory neuropathy-deafness-dementia syndrome	semapv:ManualMappingCuration
MONDO:0013587	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	oboInOwl:hasDbXref	Orphanet:284435	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	semapv:ManualMappingCuration
MONDO:0013594	spinocerebellar ataxia type 36	oboInOwl:hasDbXref	Orphanet:276198	Spinocerebellar ataxia type 36	semapv:ManualMappingCuration
MONDO:0013595	hyperbiliverdinemia	oboInOwl:hasDbXref	Orphanet:276405	Hyperbiliverdinemia	semapv:ManualMappingCuration
MONDO:0013598	myostatin-related muscle hypertrophy	oboInOwl:hasDbXref	Orphanet:275534	OBSOLETE: Myostatin-related muscle hypertrophy	semapv:ManualMappingCuration
MONDO:0013599	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	oboInOwl:hasDbXref	Orphanet:391487	STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	semapv:ManualMappingCuration
MONDO:0013606	Hermansky-Pudlak syndrome 9	oboInOwl:hasDbXref	Orphanet:280663	Hermansky-Pudlak syndrome type 9	semapv:ManualMappingCuration
MONDO:0013607	monocytopenia with susceptibility to infections	oboInOwl:hasDbXref	Orphanet:228423	GATA2 deficiency spectrum	semapv:ManualMappingCuration
MONDO:0013614	hypertelorism-preauricular sinus-punctual pits-deafness syndrome	oboInOwl:hasDbXref	Orphanet:293958	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome	semapv:ManualMappingCuration
MONDO:0013615	craniosynostosis and dental anomalies	oboInOwl:hasDbXref	Orphanet:284149	Craniosynostosis-dental anomalies	semapv:ManualMappingCuration
MONDO:0013621	LAMB2-related infantile-onset nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:306507	LAMB2-related infantile-onset nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0013622	platelet-type bleeding disorder 9	oboInOwl:hasDbXref	Orphanet:98886	Bleeding diathesis due to integrin alpha2-beta1 deficiency	semapv:ManualMappingCuration
MONDO:0013623	platelet-type bleeding disorder 11	oboInOwl:hasDbXref	Orphanet:98885	Bleeding diathesis due to glycoprotein VI deficiency	semapv:ManualMappingCuration
MONDO:0013626	psoriasis 14, pustular	oboInOwl:hasDbXref	Orphanet:163931	Acrodermatitis continua of Hallopeau	semapv:ManualMappingCuration
MONDO:0013626	psoriasis 14, pustular	oboInOwl:hasDbXref	Orphanet:404546	DITRA	semapv:ManualMappingCuration
MONDO:0013640	familial retinal arterial macroaneurysm	oboInOwl:hasDbXref	Orphanet:284247	Familial retinal arterial macroaneurysm	semapv:ManualMappingCuration
MONDO:0013644	Charcot-Marie-Tooth disease axonal type 2O	oboInOwl:hasDbXref	Orphanet:284232	Autosomal dominant Charcot-Marie-Tooth disease type 2O	semapv:ManualMappingCuration
MONDO:0013645	autosomal recessive spinocerebellar ataxia 11	oboInOwl:hasDbXref	Orphanet:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	semapv:ManualMappingCuration
MONDO:0013646	chromosome 8q21.11 deletion syndrome	oboInOwl:hasDbXref	Orphanet:284160	8q21.11 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013648	familial progressive hyperpigmentation	oboInOwl:hasDbXref	Orphanet:79146	Familial progressive hyperpigmentation	semapv:ManualMappingCuration
MONDO:0013656	intellectual disability, autosomal dominant 9	oboInOwl:hasDbXref	Orphanet:662367	NESCAV syndrome	semapv:ManualMappingCuration
MONDO:0013659	microcephaly-capillary malformation syndrome	oboInOwl:hasDbXref	Orphanet:294016	Microcephaly-capillary malformation syndrome	semapv:ManualMappingCuration
MONDO:0013661	combined malonic and methylmalonic acidemia	oboInOwl:hasDbXref	Orphanet:289504	Combined malonic and methylmalonic acidemia	semapv:ManualMappingCuration
MONDO:0013662	Barrett esophagus	oboInOwl:hasDbXref	Orphanet:1232	NON RARE IN EUROPE: Barrett esophagus	semapv:ManualMappingCuration
MONDO:0013664	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	oboInOwl:hasDbXref	Orphanet:443087	46,XY difference of sex development due to testicular 17,20-desmolase deficiency	semapv:ManualMappingCuration
MONDO:0013668	tetrasomy 18p	oboInOwl:hasDbXref	Orphanet:3307	Tetrasomy 18p syndrome	semapv:ManualMappingCuration
MONDO:0013673	Wolfram-like syndrome	oboInOwl:hasDbXref	Orphanet:411590	Wolfram-like syndrome	semapv:ManualMappingCuration
MONDO:0013674	neurodegeneration with brain iron accumulation 4	oboInOwl:hasDbXref	Orphanet:289560	Mitochondrial membrane protein-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0013675	multiple mitochondrial dysfunctions syndrome 2	oboInOwl:hasDbXref	Orphanet:401874	Multiple mitochondrial dysfunctions syndrome type 2	semapv:ManualMappingCuration
MONDO:0013678	EDICT syndrome	oboInOwl:hasDbXref	Orphanet:293936	EDICT syndrome	semapv:ManualMappingCuration
MONDO:0013686	distal myopathy, Tateyama type	oboInOwl:hasDbXref	Orphanet:488650	Distal myopathy, Tateyama type	semapv:ManualMappingCuration
MONDO:0013687	autosomal recessive spinocerebellar ataxia 12	oboInOwl:hasDbXref	Orphanet:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	semapv:ManualMappingCuration
MONDO:0013688	linear and whorled nevoid hypermelanosis	oboInOwl:hasDbXref	Orphanet:79150	Linear and whorled nevoid hypermelanosis	semapv:ManualMappingCuration
MONDO:0013691	Feingold syndrome type 2	oboInOwl:hasDbXref	Orphanet:391646	Feingold syndrome type 2	semapv:ManualMappingCuration
MONDO:0013692	BAP1-related tumor predisposition syndrome	oboInOwl:hasDbXref	Orphanet:289539	BAP1-related tumor predisposition syndrome	semapv:ManualMappingCuration
MONDO:0013700	pancreatic triacylglycerol lipase deficiency	oboInOwl:hasDbXref	Orphanet:309031	Pancreatic triacylglycerol lipase deficiency	semapv:ManualMappingCuration
MONDO:0013711	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	oboInOwl:hasDbXref	Orphanet:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	semapv:ManualMappingCuration
MONDO:0013722	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:85186	Endosteal sclerosis-cerebellar hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0013726	encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	oboInOwl:hasDbXref	Orphanet:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	semapv:ManualMappingCuration
MONDO:0013730	graft versus host disease	oboInOwl:hasDbXref	Orphanet:39812	Graft versus host disease	semapv:ManualMappingCuration
MONDO:0013731	MEGF10-related myopathy	oboInOwl:hasDbXref	Orphanet:439212	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	semapv:ManualMappingCuration
MONDO:0013735	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	oboInOwl:hasDbXref	Orphanet:329332	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	semapv:ManualMappingCuration
MONDO:0013737	hereditary spastic paraplegia 46	oboInOwl:hasDbXref	Orphanet:320391	Autosomal recessive spastic paraplegia type 46	semapv:ManualMappingCuration
MONDO:0013740	lethal occipital encephalocele-skeletal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:293925	Lethal occipital encephalocele-skeletal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0013742	obsolete familial mesial temporal lobe epilepsy with febrile seizures	oboInOwl:hasDbXref	Orphanet:165805	Familial mesial temporal lobe epilepsy with febrile seizures	semapv:ManualMappingCuration
MONDO:0013743	autosomal systemic lupus erythematosus type 16	oboInOwl:hasDbXref	Orphanet:300345	Autosomal systemic lupus erythematosus	semapv:ManualMappingCuration
MONDO:0013753	Charcot-Marie-Tooth disease axonal type 2P	oboInOwl:hasDbXref	Orphanet:300319	Charcot-Marie-Tooth disease type 2P	semapv:ManualMappingCuration
MONDO:0013753	Charcot-Marie-Tooth disease axonal type 2P	oboInOwl:hasDbXref	Orphanet:99941	Autosomal dominant Charcot-Marie-Tooth disease type 2G	semapv:ManualMappingCuration
MONDO:0013755	PYCR1-related de Barsy syndrome	oboInOwl:hasDbXref	Orphanet:293633	PYCR1-related De Barsy syndrome	semapv:ManualMappingCuration
MONDO:0013758	Charcot-Marie-Tooth disease dominant intermediate E	oboInOwl:hasDbXref	Orphanet:93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	semapv:ManualMappingCuration
MONDO:0013759	melanoma, cutaneous malignant, susceptibility to, 8	oboInOwl:hasDbXref	Orphanet:293822	MITF-related melanoma and renal cell carcinoma predisposition syndrome	semapv:ManualMappingCuration
MONDO:0013760	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	oboInOwl:hasDbXref	Orphanet:352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	semapv:ManualMappingCuration
MONDO:0013761	childhood encephalopathy due to thiamine pyrophosphokinase deficiency	oboInOwl:hasDbXref	Orphanet:293955	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	semapv:ManualMappingCuration
MONDO:0013762	lipoic acid synthetase deficiency	oboInOwl:hasDbXref	Orphanet:401859	Lipoic acid synthetase deficiency	semapv:ManualMappingCuration
MONDO:0013766	familial cold autoinflammatory syndrome 3	oboInOwl:hasDbXref	Orphanet:300359	PLCG2-associated antibody deficiency and immune dysregulation	semapv:ManualMappingCuration
MONDO:0013767	autoimmune lymphoproliferative syndrome type 4	oboInOwl:hasDbXref	Orphanet:268114	RAS-associated autoimmune leukoproliferative disease	semapv:ManualMappingCuration
MONDO:0013771	transient infantile hypertriglyceridemia and hepatosteatosis	oboInOwl:hasDbXref	Orphanet:300293	Transient infantile hypertriglyceridemia and hepatosteatosis	semapv:ManualMappingCuration
MONDO:0013772	Huppke-Brendel syndrome	oboInOwl:hasDbXref	Orphanet:300313	Congenital cataract-hearing loss-severe developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0013775	thrombomodulin-related bleeding disorder	oboInOwl:hasDbXref	Orphanet:436169	Thrombomodulin-related bleeding disorder	semapv:ManualMappingCuration
MONDO:0013776	spastic ataxia 5	oboInOwl:hasDbXref	Orphanet:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0013777	pseudohypoaldosteronism type 2B	oboInOwl:hasDbXref	Orphanet:88939	Pseudohypoaldosteronism type 2B	semapv:ManualMappingCuration
MONDO:0013778	pseudohypoaldosteronism type 2C	oboInOwl:hasDbXref	Orphanet:88940	Pseudohypoaldosteronism type 2C	semapv:ManualMappingCuration
MONDO:0013781	pseudohypoaldosteronism type 2D	oboInOwl:hasDbXref	Orphanet:300525	Pseudohypoaldosteronism type 2D	semapv:ManualMappingCuration
MONDO:0013782	pseudohypoaldosteronism type 2E	oboInOwl:hasDbXref	Orphanet:300530	Pseudohypoaldosteronism type 2E	semapv:ManualMappingCuration
MONDO:0013784	neonatal-onset encephalopathy with rigidity and seizures	oboInOwl:hasDbXref	Orphanet:435845	Lethal neonatal spasticity-epileptic encephalopathy syndrome	semapv:ManualMappingCuration
MONDO:0013789	DDOST-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:300536	DDOST-CDG	semapv:ManualMappingCuration
MONDO:0013796	chromosome 17q12 duplication syndrome	oboInOwl:hasDbXref	Orphanet:261272	17q12 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0013797	chromosome 17q12 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261265	17q12 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0013798	chromosome 16q22 deletion syndrome	oboInOwl:hasDbXref	Orphanet:658540	16q22 deletion syndrome	semapv:ManualMappingCuration
MONDO:0013800	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	oboInOwl:hasDbXref	Orphanet:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	semapv:ManualMappingCuration
MONDO:0013802	infantile cerebellar-retinal degeneration	oboInOwl:hasDbXref	Orphanet:313850	Infantile cerebellar-retinal degeneration	semapv:ManualMappingCuration
MONDO:0013803	leukoencephalopathy with calcifications and cysts	oboInOwl:hasDbXref	Orphanet:542310	Leukoencephalopathy with calcifications and cysts	semapv:ManualMappingCuration
MONDO:0013806	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	oboInOwl:hasDbXref	Orphanet:313846	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	semapv:ManualMappingCuration
MONDO:0013808	Maffucci syndrome	oboInOwl:hasDbXref	Orphanet:163634	Maffucci syndrome	semapv:ManualMappingCuration
MONDO:0013810	COG6-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:464443	COG6-CGD	semapv:ManualMappingCuration
MONDO:0013811	combined oxidative phosphorylation defect type 9	oboInOwl:hasDbXref	Orphanet:319509	Combined oxidative phosphorylation defect type 9	semapv:ManualMappingCuration
MONDO:0013813	dystonia 21	oboInOwl:hasDbXref	Orphanet:306734	Primary dystonia, DYT21 type	semapv:ManualMappingCuration
MONDO:0013815	bent bone dysplasia syndrome 1	oboInOwl:hasDbXref	Orphanet:313855	FGFR2-related bent bone dysplasia	semapv:ManualMappingCuration
MONDO:0013825	congenital diarrhea 6	oboInOwl:hasDbXref	Orphanet:314373	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	semapv:ManualMappingCuration
MONDO:0013836	familial steroid-resistant nephrotic syndrome with sensorineural deafness	oboInOwl:hasDbXref	Orphanet:280406	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	semapv:ManualMappingCuration
MONDO:0013837	deafness-encephaloneuropathy-obesity-valvulopathy syndrome	oboInOwl:hasDbXref	Orphanet:254898	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	semapv:ManualMappingCuration
MONDO:0013839	hereditary sensory and autonomic neuropathy type 6	oboInOwl:hasDbXref	Orphanet:314381	Hereditary sensory and autonomic neuropathy type 6	semapv:ManualMappingCuration
MONDO:0013840	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	oboInOwl:hasDbXref	Orphanet:319678	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	semapv:ManualMappingCuration
MONDO:0013843	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	oboInOwl:hasDbXref	Orphanet:314376	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	semapv:ManualMappingCuration
MONDO:0013847	chromosome 16p11.2 duplication syndrome	oboInOwl:hasDbXref	Orphanet:370079	Proximal 16p11.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0013851	autosomal dominant aplasia and myelodysplasia	oboInOwl:hasDbXref	Orphanet:314399	Autosomal dominant aplasia and myelodysplasia	semapv:ManualMappingCuration
MONDO:0013858	pontine tegmental cap dysplasia	oboInOwl:hasDbXref	Orphanet:269229	Pontine tegmental cap dysplasia	semapv:ManualMappingCuration
MONDO:0013860	idiopathic membranous glomerulonephritis	oboInOwl:hasDbXref	Orphanet:97560	Primary membranous glomerulonephritis	semapv:ManualMappingCuration
MONDO:0013863	combined immunodeficiency due to LRBA deficiency	oboInOwl:hasDbXref	Orphanet:445018	Combined immunodeficiency due to LRBA deficiency	semapv:ManualMappingCuration
MONDO:0013865	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	oboInOwl:hasDbXref	Orphanet:314637	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	semapv:ManualMappingCuration
MONDO:0013866	neuronal ceroid lipofuscinosis 11	oboInOwl:hasDbXref	Orphanet:314629	CLN11 disease	semapv:ManualMappingCuration
MONDO:0013867	Brown-Vialetto-van Laere syndrome 2	oboInOwl:hasDbXref	Orphanet:572550	RFVT3-related riboflavin transporter deficiency	semapv:ManualMappingCuration
MONDO:0013869	adenine phosphoribosyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:976	Adenine phosphoribosyltransferase deficiency	semapv:ManualMappingCuration
MONDO:0013870	TMEM165-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:314667	TMEM165-CDG	semapv:ManualMappingCuration
MONDO:0013873	IMAGe syndrome	oboInOwl:hasDbXref	Orphanet:85173	IMAGe syndrome	semapv:ManualMappingCuration
MONDO:0013875	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	oboInOwl:hasDbXref	Orphanet:352328	MEGDEL syndrome	semapv:ManualMappingCuration
MONDO:0013877	mitochondrial pyruvate carrier deficiency	oboInOwl:hasDbXref	Orphanet:447784	Mitochondrial pyruvate carrier deficiency	semapv:ManualMappingCuration
MONDO:0013881	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome	semapv:ManualMappingCuration
MONDO:0013885	Malan overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:420179	Malan overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0013886	cerebellar dysfunction with variable cognitive and behavioral abnormalities	oboInOwl:hasDbXref	Orphanet:314647	Non-progressive cerebellar ataxia with intellectual disability	semapv:ManualMappingCuration
MONDO:0013889	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome	oboInOwl:hasDbXref	Orphanet:391677	Short stature-optic atrophy-Pelger-Huët anomaly syndrome	semapv:ManualMappingCuration
MONDO:0013890	congenital myopathy with internal nuclei and atypical cores	oboInOwl:hasDbXref	Orphanet:319160	Congenital myopathy with internal nuclei and atypical cores	semapv:ManualMappingCuration
MONDO:0013892	C3 glomerulonephritis	oboInOwl:hasDbXref	Orphanet:329931	C3 glomerulonephritis	semapv:ManualMappingCuration
MONDO:0013894	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	oboInOwl:hasDbXref	Orphanet:314394	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	semapv:ManualMappingCuration
MONDO:0013898	karyomegalic interstitial nephritis	oboInOwl:hasDbXref	Orphanet:401996	Karyomegalic interstitial nephritis	semapv:ManualMappingCuration
MONDO:0013905	autosomal recessive spinocerebellar ataxia 13	oboInOwl:hasDbXref	Orphanet:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	semapv:ManualMappingCuration
MONDO:0013907	bilateral generalized polymicrogyria	oboInOwl:hasDbXref	Orphanet:208447	Bilateral generalized polymicrogyria	semapv:ManualMappingCuration
MONDO:0013918	distal tetrasomy 15q	oboInOwl:hasDbXref	Orphanet:314588	Distal triplication 15q syndrome	semapv:ManualMappingCuration
MONDO:0013922	Seckel syndrome 7	oboInOwl:hasDbXref	Orphanet:319675	Microcephalic primordial dwarfism, Dauber type	semapv:ManualMappingCuration
MONDO:0013925	methylmalonic acidemia with homocystinuria, type cblJ	oboInOwl:hasDbXref	Orphanet:369955	Methylmalonic acidemia with homocystinuria, type cblJ	semapv:ManualMappingCuration
MONDO:0013928	dystonia 23	oboInOwl:hasDbXref	Orphanet:420492	Adult-onset cervical dystonia, DYT23 type	semapv:ManualMappingCuration
MONDO:0013934	combined immunodeficiency due to STK4 deficiency	oboInOwl:hasDbXref	Orphanet:314689	Combined immunodeficiency due to STK4 deficiency	semapv:ManualMappingCuration
MONDO:0013941	metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	oboInOwl:hasDbXref	Orphanet:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration
MONDO:0013944	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	oboInOwl:hasDbXref	Orphanet:324530	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	semapv:ManualMappingCuration
MONDO:0013947	neuronopathy, distal hereditary motor, autosomal recessive 5	oboInOwl:hasDbXref	Orphanet:314485	Young adult-onset distal hereditary motor neuropathy	semapv:ManualMappingCuration
MONDO:0013954	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	oboInOwl:hasDbXref	Orphanet:319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	semapv:ManualMappingCuration
MONDO:0013955	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	oboInOwl:hasDbXref	Orphanet:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	semapv:ManualMappingCuration
MONDO:0013956	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	oboInOwl:hasDbXref	Orphanet:319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	semapv:ManualMappingCuration
MONDO:0013957	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	oboInOwl:hasDbXref	Orphanet:319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	semapv:ManualMappingCuration
MONDO:0013959	Charcot-Marie-Tooth disease type 4F	oboInOwl:hasDbXref	Orphanet:99952	Charcot-Marie-Tooth disease type 4F	semapv:ManualMappingCuration
MONDO:0013960	sinoatrial node dysfunction and deafness	oboInOwl:hasDbXref	Orphanet:324321	Sinoatrial node dysfunction and deafness	semapv:ManualMappingCuration
MONDO:0013962	hereditary spastic paraplegia 53	oboInOwl:hasDbXref	Orphanet:319199	Autosomal recessive spastic paraplegia type 53	semapv:ManualMappingCuration
MONDO:0013968	PGM1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:319646	PGM1-CDG	semapv:ManualMappingCuration
MONDO:0013969	combined oxidative phosphorylation defect type 11	oboInOwl:hasDbXref	Orphanet:324535	Combined oxidative phosphorylation defect type 11	semapv:ManualMappingCuration
MONDO:0013970	branched-chain keto acid dehydrogenase kinase deficiency	oboInOwl:hasDbXref	Orphanet:308410	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	semapv:ManualMappingCuration
MONDO:0013971	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	oboInOwl:hasDbXref	Orphanet:314051	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	semapv:ManualMappingCuration
MONDO:0013972	Perrault syndrome 2	oboInOwl:hasDbXref	Orphanet:642976	Perrault syndrome type 2	semapv:ManualMappingCuration
MONDO:0013977	combined oxidative phosphorylation defect type 13	oboInOwl:hasDbXref	Orphanet:319514	Combined oxidative phosphorylation defect type 13	semapv:ManualMappingCuration
MONDO:0013981	myoclonus, familial	oboInOwl:hasDbXref	Orphanet:319189	Familial cortical myoclonus	semapv:ManualMappingCuration
MONDO:0013986	combined oxidative phosphorylation defect type 14	oboInOwl:hasDbXref	Orphanet:319519	Combined oxidative phosphorylation defect type 14	semapv:ManualMappingCuration
MONDO:0013987	combined oxidative phosphorylation defect type 15	oboInOwl:hasDbXref	Orphanet:319524	Combined oxidative phosphorylation defect type 15	semapv:ManualMappingCuration
MONDO:0013990	pontocerebellar hypoplasia type 8	oboInOwl:hasDbXref	Orphanet:324569	Pontocerebellar hypoplasia type 8	semapv:ManualMappingCuration
MONDO:0013991	obesity due to congenital leptin deficiency	oboInOwl:hasDbXref	Orphanet:66628	Obesity due to congenital leptin deficiency	semapv:ManualMappingCuration
MONDO:0013992	obesity due to leptin receptor gene deficiency	oboInOwl:hasDbXref	Orphanet:179494	Obesity due to leptin receptor gene deficiency	semapv:ManualMappingCuration
MONDO:0013993	pontocerebellar hypoplasia type 7	oboInOwl:hasDbXref	Orphanet:284339	Pontocerebellar hypoplasia type 7	semapv:ManualMappingCuration
MONDO:0013996	focal facial dermal dysplasia type II	oboInOwl:hasDbXref	Orphanet:398173	Focal facial dermal dysplasia type II	semapv:ManualMappingCuration
MONDO:0013997	focal facial dermal dysplasia type IV	oboInOwl:hasDbXref	Orphanet:398189	Focal facial dermal dysplasia type IV	semapv:ManualMappingCuration
MONDO:0013999	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	oboInOwl:hasDbXref	Orphanet:313800	Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome	semapv:ManualMappingCuration
MONDO:0014005	immunoglobulin-mediated membranoproliferative glomerulonephritis	oboInOwl:hasDbXref	Orphanet:329903	Immunoglobulin-mediated membranoproliferative glomerulonephritis	semapv:ManualMappingCuration
MONDO:0014006	Schuurs-Hoeijmakers syndrome	oboInOwl:hasDbXref	Orphanet:329224	Schuurs-Hoeijmakers syndrome	semapv:ManualMappingCuration
MONDO:0014012	Charcot-Marie-Tooth disease axonal type 2Q	oboInOwl:hasDbXref	Orphanet:329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	semapv:ManualMappingCuration
MONDO:0014013	maternal riboflavin deficiency	oboInOwl:hasDbXref	Orphanet:411712	Maternal riboflavin deficiency	semapv:ManualMappingCuration
MONDO:0014014	epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	oboInOwl:hasDbXref	Orphanet:412189	Epidermolysis bullosa simplex due to exophilin 5 deficiency	semapv:ManualMappingCuration
MONDO:0014015	hereditary spastic paraplegia 56	oboInOwl:hasDbXref	Orphanet:320411	Autosomal recessive spastic paraplegia type 56	semapv:ManualMappingCuration
MONDO:0014016	hereditary spastic paraplegia 49	oboInOwl:hasDbXref	Orphanet:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	semapv:ManualMappingCuration
MONDO:0014017	intellectual developmental disorder with autism and macrocephaly	oboInOwl:hasDbXref	Orphanet:642675	CHD8 overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0014018	hereditary spastic paraplegia 54	oboInOwl:hasDbXref	Orphanet:320380	Autosomal recessive spastic paraplegia type 54	semapv:ManualMappingCuration
MONDO:0014019	dystonia 24	oboInOwl:hasDbXref	Orphanet:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	semapv:ManualMappingCuration
MONDO:0014020	hereditary spastic paraplegia 55	oboInOwl:hasDbXref	Orphanet:320375	Autosomal recessive spastic paraplegia type 55	semapv:ManualMappingCuration
MONDO:0014021	familial episodic pain syndrome with predominantly upper body involvement	oboInOwl:hasDbXref	Orphanet:391389	Familial episodic pain syndrome with predominantly upper body involvement	semapv:ManualMappingCuration
MONDO:0014023	congenital muscular dystrophy with intellectual disability and severe epilepsy	oboInOwl:hasDbXref	Orphanet:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	semapv:ManualMappingCuration
MONDO:0014024	hereditary spastic paraplegia 43	oboInOwl:hasDbXref	Orphanet:320370	Autosomal recessive spastic paraplegia type 43	semapv:ManualMappingCuration
MONDO:0014025	lower motor neuron syndrome with late-adult onset	oboInOwl:hasDbXref	Orphanet:276435	Lower motor neuron syndrome with late-adult onset	semapv:ManualMappingCuration
MONDO:0014028	distal arthrogryposis type 5D	oboInOwl:hasDbXref	Orphanet:329457	Distal arthrogryposis type 5D	semapv:ManualMappingCuration
MONDO:0014031	microcephalic primordial dwarfism, Alazami type	oboInOwl:hasDbXref	Orphanet:319671	Alazami syndrome	semapv:ManualMappingCuration
MONDO:0014033	dystonia 25	oboInOwl:hasDbXref	Orphanet:329466	Autosomal dominant focal dystonia, DYT25 type	semapv:ManualMappingCuration
MONDO:0014034	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	oboInOwl:hasDbXref	Orphanet:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	semapv:ManualMappingCuration
MONDO:0014035	severe intellectual disability-progressive spastic diplegia syndrome	oboInOwl:hasDbXref	Orphanet:404473	Severe intellectual disability-progressive spastic diplegia syndrome	semapv:ManualMappingCuration
MONDO:0014039	mitochondrial DNA depletion syndrome 11	oboInOwl:hasDbXref	Orphanet:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	semapv:ManualMappingCuration
MONDO:0014043	microcephalic primordial dwarfism due to ZNF335 deficiency	oboInOwl:hasDbXref	Orphanet:329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	semapv:ManualMappingCuration
MONDO:0014044	dysmorphism-conductive hearing loss-heart defect syndrome	oboInOwl:hasDbXref	Orphanet:289553	Dysmorphism-conductive hearing loss-heart defect syndrome	semapv:ManualMappingCuration
MONDO:0014058	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	oboInOwl:hasDbXref	Orphanet:352712	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	semapv:ManualMappingCuration
MONDO:0014060	progressive retinal dystrophy due to retinol transport defect	oboInOwl:hasDbXref	Orphanet:352718	Progressive retinal dystrophy due to retinol transport defect	semapv:ManualMappingCuration
MONDO:0014061	Steel syndrome	oboInOwl:hasDbXref	Orphanet:438117	Steel syndrome	semapv:ManualMappingCuration
MONDO:0014062	mitochondrial DNA deletion syndrome with progressive myopathy	oboInOwl:hasDbXref	Orphanet:352470	DNA2-related mitochondrial DNA deletion syndrome	semapv:ManualMappingCuration
MONDO:0014067	short ulna-dysmorphism-hypotonia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:357175	Short ulna-dysmorphism-hypotonia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014069	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	oboInOwl:hasDbXref	Orphanet:357332	Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	semapv:ManualMappingCuration
MONDO:0014070	oculocutaneous albinism type 7	oboInOwl:hasDbXref	Orphanet:352745	Oculocutaneous albinism type 7	semapv:ManualMappingCuration
MONDO:0014072	D,L-2-hydroxyglutaric aciduria	oboInOwl:hasDbXref	Orphanet:356978	D,L-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration
MONDO:0014074	Charcot-Marie-Tooth disease dominant intermediate F	oboInOwl:hasDbXref	Orphanet:352670	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	semapv:ManualMappingCuration
MONDO:0014077	cobblestone lissencephaly without muscular or ocular involvement	oboInOwl:hasDbXref	Orphanet:352682	Cobblestone lissencephaly without muscular or ocular involvement	semapv:ManualMappingCuration
MONDO:0014080	osteosclerotic metaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:500548	Osteosclerotic metaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0014081	severe combined immunodeficiency due to CARD11 deficiency	oboInOwl:hasDbXref	Orphanet:357237	Combined immunodeficiency due to CARD11 deficiency	semapv:ManualMappingCuration
MONDO:0014082	cryptosporidiosis-chronic cholangitis-liver disease syndrome	oboInOwl:hasDbXref	Orphanet:357329	Combined immunodeficiency due to IL21R deficiency	semapv:ManualMappingCuration
MONDO:0014089	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	oboInOwl:hasDbXref	Orphanet:352662	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	semapv:ManualMappingCuration
MONDO:0014094	severe congenital hypochromic anemia with ringed sideroblasts	oboInOwl:hasDbXref	Orphanet:300298	Severe congenital hypochromic anemia with ringed sideroblasts	semapv:ManualMappingCuration
MONDO:0014096	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	oboInOwl:hasDbXref	Orphanet:137658	Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	semapv:ManualMappingCuration
MONDO:0014097	congenital short bowel syndrome	oboInOwl:hasDbXref	Orphanet:2301	Congenital short bowel syndrome	semapv:ManualMappingCuration
MONDO:0014098	CIDEC-related familial partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:435651	CIDEC-related familial partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0014115	hypomyelination with brain stem and spinal cord involvement and leg spasticity	oboInOwl:hasDbXref	Orphanet:363412	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	semapv:ManualMappingCuration
MONDO:0014117	Charcot-Marie-Tooth disease type 4B3	oboInOwl:hasDbXref	Orphanet:363981	Charcot-Marie-Tooth disease type 4B3	semapv:ManualMappingCuration
MONDO:0014118	congenital neutropenia-myelofibrosis-nephromegaly syndrome	oboInOwl:hasDbXref	Orphanet:369852	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	semapv:ManualMappingCuration
MONDO:0014119	intellectual disability-strabismus syndrome	oboInOwl:hasDbXref	Orphanet:363528	Intellectual disability-strabismus syndrome	semapv:ManualMappingCuration
MONDO:0014121	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	oboInOwl:hasDbXref	Orphanet:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0014127	oculocutaneous albinism type 5	oboInOwl:hasDbXref	Orphanet:370091	Oculocutaneous albinism type 5	semapv:ManualMappingCuration
MONDO:0014128	TCF12-related craniosynostosis	oboInOwl:hasDbXref	Orphanet:672979	Craniosynostosis-facial dysmorphism-brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0014131	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014132	multiple mitochondrial dysfunctions syndrome 3	oboInOwl:hasDbXref	Orphanet:363424	Multiple mitochondrial dysfunctions syndrome type 3	semapv:ManualMappingCuration
MONDO:0014139	Ehlers-Danlos syndrome, spondylodysplastic type, 2	oboInOwl:hasDbXref	Orphanet:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0014142	autosomal recessive limb-girdle muscular dystrophy type 2T	oboInOwl:hasDbXref	Orphanet:363623	GMPPB-related limb-girdle muscular dystrophy R19	semapv:ManualMappingCuration
MONDO:0014144	autosomal recessive limb-girdle muscular dystrophy type R18	oboInOwl:hasDbXref	Orphanet:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	semapv:ManualMappingCuration
MONDO:0014147	neuronal ceroid lipofuscinosis 13	oboInOwl:hasDbXref	Orphanet:352709	CLN13 disease	semapv:ManualMappingCuration
MONDO:0014148	estrogen resistance syndrome	oboInOwl:hasDbXref	Orphanet:785	Estrogen resistance syndrome	semapv:ManualMappingCuration
MONDO:0014149	fetal akinesia-cerebral and retinal hemorrhage syndrome	oboInOwl:hasDbXref	Orphanet:363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome	semapv:ManualMappingCuration
MONDO:0014154	Charcot-Marie-Tooth disease recessive intermediate C	oboInOwl:hasDbXref	Orphanet:369867	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	semapv:ManualMappingCuration
MONDO:0014157	mandibular hypoplasia-deafness-progeroid syndrome	oboInOwl:hasDbXref	Orphanet:363649	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	semapv:ManualMappingCuration
MONDO:0014159	autosomal recessive spinocerebellar ataxia 14	oboInOwl:hasDbXref	Orphanet:352403	Spectrin-associated autosomal recessive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0014160	TCR-alpha-beta-positive T-cell deficiency	oboInOwl:hasDbXref	Orphanet:397959	TCR-alpha-beta-positive T-cell deficiency	semapv:ManualMappingCuration
MONDO:0014162	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	oboInOwl:hasDbXref	Orphanet:352563	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	semapv:ManualMappingCuration
MONDO:0014165	multiple congenital anomalies-hypotonia-seizures syndrome 3	oboInOwl:hasDbXref	Orphanet:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0014168	severe combined immunodeficiency due to CORO1A deficiency	oboInOwl:hasDbXref	Orphanet:228003	Severe combined immunodeficiency due to CORO1A deficiency	semapv:ManualMappingCuration
MONDO:0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies	oboInOwl:hasDbXref	Orphanet:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	semapv:ManualMappingCuration
MONDO:0014180	epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	oboInOwl:hasDbXref	Orphanet:412181	Epidermolysis bullosa simplex due to BP230 deficiency	semapv:ManualMappingCuration
MONDO:0014185	chromosome 3q13.31 deletion syndrome	oboInOwl:hasDbXref	Orphanet:1621	3q13 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0014190	combined oxidative phosphorylation defect type 17	oboInOwl:hasDbXref	Orphanet:369913	Combined oxidative phosphorylation defect type 17	semapv:ManualMappingCuration
MONDO:0014195	microcornea-myopic chorioretinal atrophy	oboInOwl:hasDbXref	Orphanet:369970	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	semapv:ManualMappingCuration
MONDO:0014196	Hartsfield-Bixler-Demyer syndrome	oboInOwl:hasDbXref	Orphanet:2117	Hartsfield syndrome	semapv:ManualMappingCuration
MONDO:0014197	combined immunodeficiency due to MALT1 deficiency	oboInOwl:hasDbXref	Orphanet:397964	Combined immunodeficiency due to MALT1 deficiency	semapv:ManualMappingCuration
MONDO:0014198	mitochondrial DNA depletion syndrome 13	oboInOwl:hasDbXref	Orphanet:369897	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	semapv:ManualMappingCuration
MONDO:0014200	aldosterone-producing adenoma with seizures and neurological abnormalities	oboInOwl:hasDbXref	Orphanet:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0014201	developmental and epileptic encephalopathy, 18	oboInOwl:hasDbXref	Orphanet:369894	OBSOLETE: Early infantile epileptic encephalopathy without suppression burst	semapv:ManualMappingCuration
MONDO:0014205	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	oboInOwl:hasDbXref	Orphanet:352577	Bainbridge-Ropers syndrome	semapv:ManualMappingCuration
MONDO:0014206	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	oboInOwl:hasDbXref	Orphanet:440427	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	semapv:ManualMappingCuration
MONDO:0014208	Charcot-Marie-Tooth disease type 2R	oboInOwl:hasDbXref	Orphanet:397968	Charcot-Marie-Tooth disease type 2R	semapv:ManualMappingCuration
MONDO:0014209	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	oboInOwl:hasDbXref	Orphanet:352654	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	semapv:ManualMappingCuration
MONDO:0014210	intellectual disability-hypotonia-spasticity-sleep disorder syndrome	oboInOwl:hasDbXref	Orphanet:356996	ANK3-related intellectual disability-sleep disturbance syndrome	semapv:ManualMappingCuration
MONDO:0014212	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	oboInOwl:hasDbXref	Orphanet:308400	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	semapv:ManualMappingCuration
MONDO:0014213	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:363611	CTCF-related neurodevelopmental disorder	semapv:ManualMappingCuration
MONDO:0014218	severe dermatitis-multiple allergies-metabolic wasting syndrome	oboInOwl:hasDbXref	Orphanet:369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome	semapv:ManualMappingCuration
MONDO:0014221	triosephosphate isomerase deficiency	oboInOwl:hasDbXref	Orphanet:868	Triose phosphate-isomerase deficiency	semapv:ManualMappingCuration
MONDO:0014224	developmental delay with autism spectrum disorder and gait instability	oboInOwl:hasDbXref	Orphanet:329195	Developmental delay with autism spectrum disorder and gait instability	semapv:ManualMappingCuration
MONDO:0014225	hemochromatosis type 5	oboInOwl:hasDbXref	Orphanet:247790	FTH1-related iron overload	semapv:ManualMappingCuration
MONDO:0014225	hemochromatosis type 5	oboInOwl:hasDbXref	Orphanet:447792	OBSOLETE: Hemochromatosis type 5	semapv:ManualMappingCuration
MONDO:0014226	idiopathic CD4 lymphocytopenia	oboInOwl:hasDbXref	Orphanet:228000	Idiopathic CD4 lymphocytopenia	semapv:ManualMappingCuration
MONDO:0014227	hypopigmentation-punctate palmoplantar keratoderma syndrome	oboInOwl:hasDbXref	Orphanet:324561	Hypopigmentation-punctate palmoplantar keratoderma syndrome	semapv:ManualMappingCuration
MONDO:0014234	reticulate acropigmentation of Kitamura	oboInOwl:hasDbXref	Orphanet:178307	Reticulate acropigmentation of Kitamura	semapv:ManualMappingCuration
MONDO:0014238	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0014243	Schaaf-Yang syndrome	oboInOwl:hasDbXref	Orphanet:398069	Schaaf-Yang syndrome	semapv:ManualMappingCuration
MONDO:0014244	hereditary sensory and autonomic neuropathy type 7	oboInOwl:hasDbXref	Orphanet:391397	Hereditary sensory and autonomic neuropathy type 7	semapv:ManualMappingCuration
MONDO:0014247	familial episodic pain syndrome with predominantly lower limb involvement	oboInOwl:hasDbXref	Orphanet:391392	Familial episodic pain syndrome with predominantly lower limb involvement	semapv:ManualMappingCuration
MONDO:0014248	autism spectrum disorder - epilepsy - arthrogryposis syndrome	oboInOwl:hasDbXref	Orphanet:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	semapv:ManualMappingCuration
MONDO:0014249	multiple fibroadenoma of the breast	oboInOwl:hasDbXref	Orphanet:50920	OBSOLETE: Multiple fibroadenoma of the breast	semapv:ManualMappingCuration
MONDO:0014250	familial hyperprolactinemia	oboInOwl:hasDbXref	Orphanet:397685	Familial hyperprolactinemia	semapv:ManualMappingCuration
MONDO:0014258	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	oboInOwl:hasDbXref	Orphanet:391376	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	semapv:ManualMappingCuration
MONDO:0014261	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	oboInOwl:hasDbXref	Orphanet:391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	semapv:ManualMappingCuration
MONDO:0014263	8q24.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:508488	8q24.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0014267	severe combined immunodeficiency due to IKK2 deficiency	oboInOwl:hasDbXref	Orphanet:397787	Combined immunodeficiency due to IKK2 deficiency	semapv:ManualMappingCuration
MONDO:0014268	combined immunodeficiency due to OX40 deficiency	oboInOwl:hasDbXref	Orphanet:431149	Combined immunodeficiency due to OX40 deficiency	semapv:ManualMappingCuration
MONDO:0014269	combined oxidative phosphorylation deficiency 19	oboInOwl:hasDbXref	Orphanet:397593	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	semapv:ManualMappingCuration
MONDO:0014270	STT3A-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:370921	STT3A-CDG	semapv:ManualMappingCuration
MONDO:0014271	STT3B-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:370924	STT3B-CDG	semapv:ManualMappingCuration
MONDO:0014272	palmoplantar keratoderma, Nagashima type	oboInOwl:hasDbXref	Orphanet:140966	Palmoplantar keratoderma, Nagashima type	semapv:ManualMappingCuration
MONDO:0014273	microcephaly-thin corpus callosum-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014274	L-ferritin deficiency	oboInOwl:hasDbXref	Orphanet:440731	L-ferritin deficiency	semapv:ManualMappingCuration
MONDO:0014276	combined immunodeficiency due to CD3gamma deficiency	oboInOwl:hasDbXref	Orphanet:169082	Combined immunodeficiency due to CD3gamma deficiency	semapv:ManualMappingCuration
MONDO:0014282	hereditary spastic paraplegia 72	oboInOwl:hasDbXref	Orphanet:401849	Autosomal spastic paraplegia type 72	semapv:ManualMappingCuration
MONDO:0014289	macrocephaly-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:397612	Macrocephaly-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014290	neurodegeneration with brain iron accumulation 6	oboInOwl:hasDbXref	Orphanet:397725	COASY protein-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0014292	leukoencephalopathy with mild cerebellar ataxia and white matter edema	oboInOwl:hasDbXref	Orphanet:363540	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	semapv:ManualMappingCuration
MONDO:0014294	chromosome 15q11.2 deletion syndrome	oboInOwl:hasDbXref	Orphanet:261183	15q11.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0014295	hereditary spastic paraplegia 57	oboInOwl:hasDbXref	Orphanet:431329	Autosomal recessive spastic paraplegia type 57	semapv:ManualMappingCuration
MONDO:0014298	chromosome 5q12 deletion syndrome	oboInOwl:hasDbXref	Orphanet:439822	PDE4D haploinsufficiency syndrome	semapv:ManualMappingCuration
MONDO:0014300	proximal myopathy with extrapyramidal signs	oboInOwl:hasDbXref	Orphanet:401768	Proximal myopathy with extrapyramidal signs	semapv:ManualMappingCuration
MONDO:0014302	hereditary spastic paraplegia 62	oboInOwl:hasDbXref	Orphanet:401785	Autosomal recessive spastic paraplegia type 62	semapv:ManualMappingCuration
MONDO:0014303	hereditary spastic paraplegia 64	oboInOwl:hasDbXref	Orphanet:401810	Autosomal recessive spastic paraplegia type 64	semapv:ManualMappingCuration
MONDO:0014304	hereditary spastic paraplegia 61	oboInOwl:hasDbXref	Orphanet:401780	Autosomal recessive spastic paraplegia type 61	semapv:ManualMappingCuration
MONDO:0014305	hereditary spastic paraplegia 63	oboInOwl:hasDbXref	Orphanet:401805	Autosomal recessive spastic paraplegia type 63	semapv:ManualMappingCuration
MONDO:0014306	vasculitis due to ADA2 deficiency	oboInOwl:hasDbXref	Orphanet:404553	Adenosine deaminase 2 deficiency	semapv:ManualMappingCuration
MONDO:0014309	obesity due to CEP19 deficiency	oboInOwl:hasDbXref	Orphanet:397615	Obesity due to CEP19 deficiency	semapv:ManualMappingCuration
MONDO:0014310	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	oboInOwl:hasDbXref	Orphanet:221043	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	semapv:ManualMappingCuration
MONDO:0014311	autosomal recessive spinocerebellar ataxia 15	oboInOwl:hasDbXref	Orphanet:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	semapv:ManualMappingCuration
MONDO:0014313	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	oboInOwl:hasDbXref	Orphanet:437552	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	semapv:ManualMappingCuration
MONDO:0014314	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	oboInOwl:hasDbXref	Orphanet:397927	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	semapv:ManualMappingCuration
MONDO:0014317	pancytopenia-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:401764	Pancytopenia-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014320	Bosch-Boonstra-Schaaf optic atrophy syndrome	oboInOwl:hasDbXref	Orphanet:401777	Optic atrophy-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014327	palmoplantar keratoderma, nonepidermolytic, focal or diffuse	oboInOwl:hasDbXref	Orphanet:402003	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	semapv:ManualMappingCuration
MONDO:0014331	Moyamoya disease with early-onset achalasia	oboInOwl:hasDbXref	Orphanet:401945	Moyamoya disease with early-onset achalasia	semapv:ManualMappingCuration
MONDO:0014332	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	oboInOwl:hasDbXref	Orphanet:401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	semapv:ManualMappingCuration
MONDO:0014334	severe combined immunodeficiency due to LCK deficiency	oboInOwl:hasDbXref	Orphanet:280142	Severe combined immunodeficiency due to LCK deficiency	semapv:ManualMappingCuration
MONDO:0014335	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:404437	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0014336	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	oboInOwl:hasDbXref	Orphanet:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	semapv:ManualMappingCuration
MONDO:0014338	IL21-related infantile inflammatory bowel disease	oboInOwl:hasDbXref	Orphanet:477661	IL21-related infantile inflammatory bowel disease	semapv:ManualMappingCuration
MONDO:0014339	autosomal recessive spinocerebellar ataxia 16	oboInOwl:hasDbXref	Orphanet:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	semapv:ManualMappingCuration
MONDO:0014342	female infertility due to zona pellucida defect	oboInOwl:hasDbXref	Orphanet:404466	Female infertility due to zona pellucida defect	semapv:ManualMappingCuration
MONDO:0014349	pontocerebellar hypoplasia type 10	oboInOwl:hasDbXref	Orphanet:411493	Pontocerebellar hypoplasia type 10	semapv:ManualMappingCuration
MONDO:0014351	pontocerebellar hypoplasia type 9	oboInOwl:hasDbXref	Orphanet:369920	Pontocerebellar hypoplasia type 9	semapv:ManualMappingCuration
MONDO:0014353	immunodeficiency 23	oboInOwl:hasDbXref	Orphanet:443811	PGM3-CDG	semapv:ManualMappingCuration
MONDO:0014355	cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	oboInOwl:hasDbXref	Orphanet:476096	Erythrokeratodermia-cardiomyopathy syndrome	semapv:ManualMappingCuration
MONDO:0014358	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0014361	autism spectrum disorder due to AUTS2 deficiency	oboInOwl:hasDbXref	Orphanet:352490	Autism spectrum disorder due to AUTS2 deficiency	semapv:ManualMappingCuration
MONDO:0014369	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0014371	developmental and epileptic encephalopathy, 23	oboInOwl:hasDbXref	Orphanet:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0014375	congenital diarrhea 7 with exudative enteropathy	oboInOwl:hasDbXref	Orphanet:329242	Congenital chronic diarrhea with protein-losing enteropathy	semapv:ManualMappingCuration
MONDO:0014379	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	oboInOwl:hasDbXref	Orphanet:404448	ADNP syndrome	semapv:ManualMappingCuration
MONDO:0014380	colobomatous microphthalmia-rhizomelic dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:424099	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0014381	cholestasis, progressive familial intrahepatic, 4	oboInOwl:hasDbXref	Orphanet:480483	Progressive familial intrahepatic cholestasis type 4	semapv:ManualMappingCuration
MONDO:0014382	Tatton-Brown-Rahman overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:404443	Tatton-Brown-Rahman syndrome	semapv:ManualMappingCuration
MONDO:0014386	platelet-type bleeding disorder 18	oboInOwl:hasDbXref	Orphanet:420566	Bleeding disorder due to CalDAG-GEFI deficiency	semapv:ManualMappingCuration
MONDO:0014388	familial median cleft of the upper and lower lips	oboInOwl:hasDbXref	Orphanet:401942	Familial median cleft of the upper and lower lips	semapv:ManualMappingCuration
MONDO:0014389	polyglucosan body myopathy 1 with or without immunodeficiency	oboInOwl:hasDbXref	Orphanet:397937	Polyglucosan body myopathy type 1	semapv:ManualMappingCuration
MONDO:0014391	severe combined immunodeficiency due to CTPS1 deficiency	oboInOwl:hasDbXref	Orphanet:420573	Severe combined immunodeficiency due to CTPS1 deficiency	semapv:ManualMappingCuration
MONDO:0014397	combined oxidative phosphorylation defect type 20	oboInOwl:hasDbXref	Orphanet:420728	Combined oxidative phosphorylation defect type 20	semapv:ManualMappingCuration
MONDO:0014398	combined oxidative phosphorylation defect type 21	oboInOwl:hasDbXref	Orphanet:420733	Combined oxidative phosphorylation defect type 21	semapv:ManualMappingCuration
MONDO:0014399	ataxia-telangiectasia-like disorder 2	oboInOwl:hasDbXref	Orphanet:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	semapv:ManualMappingCuration
MONDO:0014401	tall stature-scoliosis-macrodactyly of the great toes syndrome	oboInOwl:hasDbXref	Orphanet:329191	Tall stature-long halluces-multiple extra-epiphyses syndrome	semapv:ManualMappingCuration
MONDO:0014402	severe neurodegenerative syndrome with lipodystrophy	oboInOwl:hasDbXref	Orphanet:363400	Severe neurodegenerative syndrome with lipodystrophy	semapv:ManualMappingCuration
MONDO:0014403	short stature due to GHSR deficiency	oboInOwl:hasDbXref	Orphanet:314811	Short stature due to GHSR deficiency	semapv:ManualMappingCuration
MONDO:0014404	Webb-Dattani syndrome	oboInOwl:hasDbXref	Orphanet:370006	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome	semapv:ManualMappingCuration
MONDO:0014405	STING-associated vasculopathy with onset in infancy	oboInOwl:hasDbXref	Orphanet:425120	STING-associated vasculopathy with onset in infancy	semapv:ManualMappingCuration
MONDO:0014410	spinocerebellar ataxia type 37	oboInOwl:hasDbXref	Orphanet:363710	Spinocerebellar ataxia type 37	semapv:ManualMappingCuration
MONDO:0014412	hyperlipoproteinemia, type 1D	oboInOwl:hasDbXref	Orphanet:535458	Familial GPIHBP1 deficiency	semapv:ManualMappingCuration
MONDO:0014413	orofaciodigital syndrome type 14	oboInOwl:hasDbXref	Orphanet:434179	Orofaciodigital syndrome type 14	semapv:ManualMappingCuration
MONDO:0014414	STAT3-related early-onset multisystem autoimmune disease	oboInOwl:hasDbXref	Orphanet:438159	STAT3-related early-onset multisystem autoimmune disease	semapv:ManualMappingCuration
MONDO:0014417	spinocerebellar ataxia type 38	oboInOwl:hasDbXref	Orphanet:423296	Spinocerebellar ataxia type 38	semapv:ManualMappingCuration
MONDO:0014419	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	oboInOwl:hasDbXref	Orphanet:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	semapv:ManualMappingCuration
MONDO:0014420	short stature due to primary acid-labile subunit deficiency	oboInOwl:hasDbXref	Orphanet:140941	Short stature due to primary acid-labile subunit deficiency	semapv:ManualMappingCuration
MONDO:0014421	glucocorticoid resistance	oboInOwl:hasDbXref	Orphanet:786	Generalized glucocorticoid resistance syndrome	semapv:ManualMappingCuration
MONDO:0014423	severe combined immunodeficiency due to DNA-PKcs deficiency	oboInOwl:hasDbXref	Orphanet:317425	Severe combined immunodeficiency due to DNA-PKcs deficiency	semapv:ManualMappingCuration
MONDO:0014424	obsolete congenital deficiency in alpha-fetoprotein	oboInOwl:hasDbXref	Orphanet:168612	Congenital deficiency in alpha-fetoprotein	semapv:ManualMappingCuration
MONDO:0014425	obsolete hereditary persistence of alpha-fetoprotein	oboInOwl:hasDbXref	Orphanet:168615	Hereditary persistence of alpha-fetoprotein	semapv:ManualMappingCuration
MONDO:0014429	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	oboInOwl:hasDbXref	Orphanet:319581	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	semapv:ManualMappingCuration
MONDO:0014431	LIPE-related familial partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:435660	LIPE-related familial partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0014448	hyperthyroxinemia, familial dysalbuminemic	oboInOwl:hasDbXref	Orphanet:276271	NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia	semapv:ManualMappingCuration
MONDO:0014449	congenital analbuminemia	oboInOwl:hasDbXref	Orphanet:86816	Congenital analbuminemia	semapv:ManualMappingCuration
MONDO:0014452	familial dysfibrinogenemia	oboInOwl:hasDbXref	Orphanet:98881	Familial dysfibrinogenemia	semapv:ManualMappingCuration
MONDO:0014455	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0014456	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	oboInOwl:hasDbXref	Orphanet:423384	Severe congenital neutropenia due to JAGN1 deficiency	semapv:ManualMappingCuration
MONDO:0014460	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	oboInOwl:hasDbXref	Orphanet:423454	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	semapv:ManualMappingCuration
MONDO:0014464	progressive encephalopathy with leukodystrophy due to DECR deficiency	oboInOwl:hasDbXref	Orphanet:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	semapv:ManualMappingCuration
MONDO:0014466	Neu-Laxova syndrome 2	oboInOwl:hasDbXref	Orphanet:583602	Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency	semapv:ManualMappingCuration
MONDO:0014467	Charcot-Marie-Tooth disease recessive intermediate D	oboInOwl:hasDbXref	Orphanet:435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	semapv:ManualMappingCuration
MONDO:0014471	mitochondrial proton-transporting ATP synthase complex deficiency	oboInOwl:hasDbXref	Orphanet:254913	Isolated ATP synthase deficiency	semapv:ManualMappingCuration
MONDO:0014472	periodic fever-infantile enterocolitis-autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:436166	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0014474	autosomal recessive limb-girdle muscular dystrophy type 2U	oboInOwl:hasDbXref	Orphanet:352479	ISPD-related limb-girdle muscular dystrophy R20	semapv:ManualMappingCuration
MONDO:0014475	spinocerebellar ataxia type 40	oboInOwl:hasDbXref	Orphanet:423275	Spinocerebellar ataxia type 40	semapv:ManualMappingCuration
MONDO:0014476	episodic ataxia type 8	oboInOwl:hasDbXref	Orphanet:401953	Episodic ataxia with slurred speech	semapv:ManualMappingCuration
MONDO:0014483	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	oboInOwl:hasDbXref	Orphanet:397758	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	semapv:ManualMappingCuration
MONDO:0014487	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014489	limb-girdle muscular dystrophy due to POMK deficiency	oboInOwl:hasDbXref	Orphanet:445110	Limb-girdle muscular dystrophy due to POMK deficiency	semapv:ManualMappingCuration
MONDO:0014490	ketoacidosis due to monocarboxylate transporter-1 deficiency	oboInOwl:hasDbXref	Orphanet:438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency	semapv:ManualMappingCuration
MONDO:0014492	wooly hair-palmoplantar keratoderma syndrome	oboInOwl:hasDbXref	Orphanet:420686	Woolly hair-palmoplantar keratoderma syndrome	semapv:ManualMappingCuration
MONDO:0014493	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	oboInOwl:hasDbXref	Orphanet:436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	semapv:ManualMappingCuration
MONDO:0014495	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014497	polyendocrine-polyneuropathy syndrome	oboInOwl:hasDbXref	Orphanet:453533	Polyendocrine-polyneuropathy syndrome	semapv:ManualMappingCuration
MONDO:0014498	familial cold autoinflammatory syndrome 4	oboInOwl:hasDbXref	Orphanet:576349	NLRC4-related familial cold autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0014500	atrial conduction disease	oboInOwl:hasDbXref	Orphanet:436242	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	semapv:ManualMappingCuration
MONDO:0014502	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	oboInOwl:hasDbXref	Orphanet:319563	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	semapv:ManualMappingCuration
MONDO:0014503	autosomal recessive spinocerebellar ataxia 17	oboInOwl:hasDbXref	Orphanet:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	semapv:ManualMappingCuration
MONDO:0014506	hypomyelinating leukodystrophy 9	oboInOwl:hasDbXref	Orphanet:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	semapv:ManualMappingCuration
MONDO:0014507	Catel-Manzke syndrome	oboInOwl:hasDbXref	Orphanet:1388	Catel-Manzke syndrome	semapv:ManualMappingCuration
MONDO:0014510	fatty acyl-CoA reductase 1 deficiency	oboInOwl:hasDbXref	Orphanet:438178	Fatty acyl-CoA reductase 1 deficiency	semapv:ManualMappingCuration
MONDO:0014511	Charcot-Marie-Tooth disease axonal type 2S	oboInOwl:hasDbXref	Orphanet:443073	Charcot-Marie-Tooth disease type 2S	semapv:ManualMappingCuration
MONDO:0014512	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0014518	platelet-type bleeding disorder 19	oboInOwl:hasDbXref	Orphanet:438207	Severe autosomal recessive macrothrombocytopenia	semapv:ManualMappingCuration
MONDO:0014520	46,XX ovarian dysgenesis-short stature syndrome	oboInOwl:hasDbXref	Orphanet:444048	46,XX ovarian dysgenesis-short stature syndrome	semapv:ManualMappingCuration
MONDO:0014521	progressive myoclonic epilepsy type 7	oboInOwl:hasDbXref	Orphanet:435438	Progressive myoclonic epilepsy type 7	semapv:ManualMappingCuration
MONDO:0014523	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	oboInOwl:hasDbXref	Orphanet:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	semapv:ManualMappingCuration
MONDO:0014525	combined oxidative phosphorylation defect type 23	oboInOwl:hasDbXref	Orphanet:444013	Combined oxidative phosphorylation defect type 23	semapv:ManualMappingCuration
MONDO:0014526	polyglucosan body myopathy type 2	oboInOwl:hasDbXref	Orphanet:456369	Polyglucosan body myopathy type 2	semapv:ManualMappingCuration
MONDO:0014527	progeroid features-hepatocellular carcinoma predisposition syndrome	oboInOwl:hasDbXref	Orphanet:435953	Progeroid features-hepatocellular carcinoma predisposition syndrome	semapv:ManualMappingCuration
MONDO:0014528	chronic atrial and intestinal dysrhythmia	oboInOwl:hasDbXref	Orphanet:435988	Chronic atrial and intestinal dysrhythmia syndrome	semapv:ManualMappingCuration
MONDO:0014529	cerebellar-facial-dental syndrome	oboInOwl:hasDbXref	Orphanet:444072	Cerebellar-facial-dental syndrome	semapv:ManualMappingCuration
MONDO:0014530	autosomal recessive spinocerebellar ataxia 18	oboInOwl:hasDbXref	Orphanet:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	semapv:ManualMappingCuration
MONDO:0014532	autosomal dominant mitochondrial myopathy with exercise intolerance	oboInOwl:hasDbXref	Orphanet:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	semapv:ManualMappingCuration
MONDO:0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect	oboInOwl:hasDbXref	Orphanet:254516	Temple syndrome	semapv:ManualMappingCuration
MONDO:0014545	progressive myoclonic epilepsy type 8	oboInOwl:hasDbXref	Orphanet:424027	Progressive myoclonic epilepsy type 8	semapv:ManualMappingCuration
MONDO:0014546	myopathy due to calsequestrin and SERCA1 protein overload	oboInOwl:hasDbXref	Orphanet:88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	semapv:ManualMappingCuration
MONDO:0014547	combined oxidative phosphorylation defect type 24	oboInOwl:hasDbXref	Orphanet:444458	Combined oxidative phosphorylation defect type 24	semapv:ManualMappingCuration
MONDO:0014552	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:439897	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0014555	peeling skin syndrome type A	oboInOwl:hasDbXref	Orphanet:263548	Peeling skin syndrome type A	semapv:ManualMappingCuration
MONDO:0014556	congenital contractures of the limbs and face, hypotonia, and developmental delay	oboInOwl:hasDbXref	Orphanet:562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014557	ataxia - oculomotor apraxia type 4	oboInOwl:hasDbXref	Orphanet:459033	Ataxia-oculomotor apraxia type 4	semapv:ManualMappingCuration
MONDO:0014558	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	oboInOwl:hasDbXref	Orphanet:457193	KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome	semapv:ManualMappingCuration
MONDO:0014559	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	oboInOwl:hasDbXref	Orphanet:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	semapv:ManualMappingCuration
MONDO:0014561	3-methylglutaconic aciduria, type VIIB	oboInOwl:hasDbXref	Orphanet:445038	3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome	semapv:ManualMappingCuration
MONDO:0014562	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	oboInOwl:hasDbXref	Orphanet:457185	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	semapv:ManualMappingCuration
MONDO:0014563	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	oboInOwl:hasDbXref	Orphanet:653880	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	semapv:ManualMappingCuration
MONDO:0014566	Charcot-Marie-Tooth disease axonal type 2U	oboInOwl:hasDbXref	Orphanet:397735	Autosomal dominant Charcot-Marie-Tooth disease type 2U	semapv:ManualMappingCuration
MONDO:0014567	glutamate pyruvate transaminase 2 deficiency	oboInOwl:hasDbXref	Orphanet:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014568	hereditary spastic paraplegia 73	oboInOwl:hasDbXref	Orphanet:444099	Autosomal dominant spastic paraplegia type 73	semapv:ManualMappingCuration
MONDO:0014572	Lichtenstein-Knorr syndrome	oboInOwl:hasDbXref	Orphanet:448251	Progressive autosomal recessive ataxia-deafness syndrome	semapv:ManualMappingCuration
MONDO:0014574	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	oboInOwl:hasDbXref	Orphanet:444138	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	semapv:ManualMappingCuration
MONDO:0014576	lipoyl transferase 1 deficiency	oboInOwl:hasDbXref	Orphanet:401862	Lipoyl transferase 1 deficiency	semapv:ManualMappingCuration
MONDO:0014597	immunodeficiency 39	oboInOwl:hasDbXref	Orphanet:574918	Predisposition to severe viral infection due to IRF7 deficiency	semapv:ManualMappingCuration
MONDO:0014601	autosomal recessive spinocerebellar ataxia 20	oboInOwl:hasDbXref	Orphanet:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	semapv:ManualMappingCuration
MONDO:0014602	Hogue-Janssens syndrome 1	oboInOwl:hasDbXref	Orphanet:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0014605	Houge-Janssens syndrome 2	oboInOwl:hasDbXref	Orphanet:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0014606	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	oboInOwl:hasDbXref	Orphanet:468678	White-Sutton syndrome	semapv:ManualMappingCuration
MONDO:0014608	mandibulofacial dysostosis with alopecia	oboInOwl:hasDbXref	Orphanet:443995	Mandibulofacial dysostosis with alopecia	semapv:ManualMappingCuration
MONDO:0014609	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0014611	multiple mitochondrial dysfunctions syndrome 4	oboInOwl:hasDbXref	Orphanet:457406	Multiple mitochondrial dysfunctions syndrome type 4	semapv:ManualMappingCuration
MONDO:0014622	isolated focal non-epidermolytic palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:448264	Isolated focal non-epidermolytic palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0014626	spinocerebellar ataxia type 41	oboInOwl:hasDbXref	Orphanet:458798	Spinocerebellar ataxia type 41	semapv:ManualMappingCuration
MONDO:0014627	dystonia 27	oboInOwl:hasDbXref	Orphanet:464440	Primary dystonia, DYT27 type	semapv:ManualMappingCuration
MONDO:0014629	autoimmune interstitial lung disease-arthritis syndrome	oboInOwl:hasDbXref	Orphanet:444092	Autoimmune interstitial lung disease-arthritis syndrome	semapv:ManualMappingCuration
MONDO:0014630	familial adenomatous polyposis 3	oboInOwl:hasDbXref	Orphanet:454840	NTHL1-related attenuated familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0014633	epilepsy with myoclonic atonic seizures	oboInOwl:hasDbXref	Orphanet:1942	Myoclonic-astatic epilepsy	semapv:ManualMappingCuration
MONDO:0014636	combined oxidative phosphorylation defect type 25	oboInOwl:hasDbXref	Orphanet:447954	Combined oxidative phosphorylation defect type 25	semapv:ManualMappingCuration
MONDO:0014637	DOCK2 deficiency	oboInOwl:hasDbXref	Orphanet:447737	Combined immunodeficiency due to DOCK2 deficiency	semapv:ManualMappingCuration
MONDO:0014643	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:464738	Basel-Vanagaite-Smirin-Yosef syndrome	semapv:ManualMappingCuration
MONDO:0014644	hereditary spastic paraplegia 74	oboInOwl:hasDbXref	Orphanet:468661	Autosomal recessive spastic paraplegia type 74	semapv:ManualMappingCuration
MONDO:0014645	BENTA disease	oboInOwl:hasDbXref	Orphanet:464336	BENTA disease	semapv:ManualMappingCuration
MONDO:0014647	developmental and epileptic encephalopathy, 50	oboInOwl:hasDbXref	Orphanet:448010	CAD-CDG	semapv:ManualMappingCuration
MONDO:0014658	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	oboInOwl:hasDbXref	Orphanet:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	semapv:ManualMappingCuration
MONDO:0014662	congenital insensitivity to pain-hypohidrosis syndrome	oboInOwl:hasDbXref	Orphanet:478664	Hereditary sensory and autonomic neuropathy type 8	semapv:ManualMappingCuration
MONDO:0014665	Charcot-Marie-Tooth disease axonal type 2V	oboInOwl:hasDbXref	Orphanet:447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V	semapv:ManualMappingCuration
MONDO:0014684	combined oxidative phosphorylation defect type 26	oboInOwl:hasDbXref	Orphanet:477684	Combined oxidative phosphorylation defect type 26	semapv:ManualMappingCuration
MONDO:0014685	progressive myoclonic epilepsy type 9	oboInOwl:hasDbXref	Orphanet:457265	Progressive myoclonic epilepsy type 9	semapv:ManualMappingCuration
MONDO:0014689	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:447974	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0014698	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	oboInOwl:hasDbXref	Orphanet:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	semapv:ManualMappingCuration
MONDO:0014700	Au-Kline syndrome	oboInOwl:hasDbXref	Orphanet:2729	Okamoto syndrome	semapv:ManualMappingCuration
MONDO:0014700	Au-Kline syndrome	oboInOwl:hasDbXref	Orphanet:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0014701	spondyloepiphyseal dysplasia, Stanescu type	oboInOwl:hasDbXref	Orphanet:459051	Spondyloepiphyseal dysplasia, Stanescu type	semapv:ManualMappingCuration
MONDO:0014702	autosomal recessive complex spastic paraplegia type 9B	oboInOwl:hasDbXref	Orphanet:447760	Autosomal recessive spastic paraplegia type 9B	semapv:ManualMappingCuration
MONDO:0014704	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	oboInOwl:hasDbXref	Orphanet:477831	Kosaki overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0014705	craniosynostosis 6	oboInOwl:hasDbXref	Orphanet:672985	Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome	semapv:ManualMappingCuration
MONDO:0014707	14q32 duplication syndrome	oboInOwl:hasDbXref	Orphanet:488280	14q32 duplication syndrome	semapv:ManualMappingCuration
MONDO:0014708	ring chromosome 14	oboInOwl:hasDbXref	Orphanet:1440	Ring chromosome 14 syndrome	semapv:ManualMappingCuration
MONDO:0014710	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	oboInOwl:hasDbXref	Orphanet:477857	Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	semapv:ManualMappingCuration
MONDO:0014711	autosomal dominant Charcot-Marie-Tooth disease type 2W	oboInOwl:hasDbXref	Orphanet:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	semapv:ManualMappingCuration
MONDO:0014714	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:477814	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014715	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	oboInOwl:hasDbXref	Orphanet:431166	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	semapv:ManualMappingCuration
MONDO:0014716	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	oboInOwl:hasDbXref	Orphanet:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	semapv:ManualMappingCuration
MONDO:0014717	early-onset Lafora body disease	oboInOwl:hasDbXref	Orphanet:324290	Early-onset Lafora body disease	semapv:ManualMappingCuration
MONDO:0014719	developmental and epileptic encephalopathy, 35	oboInOwl:hasDbXref	Orphanet:457375	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	semapv:ManualMappingCuration
MONDO:0014720	autosomal dominant optic atrophy plus syndrome	oboInOwl:hasDbXref	Orphanet:1215	Autosomal dominant optic atrophy plus syndrome	semapv:ManualMappingCuration
MONDO:0014722	Roifman syndrome	oboInOwl:hasDbXref	Orphanet:353298	Roifman syndrome	semapv:ManualMappingCuration
MONDO:0014723	PMP22-RAI1 contiguous gene duplication syndrome	oboInOwl:hasDbXref	Orphanet:477817	PMP22-RAI1 contiguous gene duplication syndrome	semapv:ManualMappingCuration
MONDO:0014725	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0014726	Charcot-Marie-Tooth disease axonal type 2X	oboInOwl:hasDbXref	Orphanet:466775	Autosomal recessive Charcot-Marie-Tooth disease type 2X	semapv:ManualMappingCuration
MONDO:0014728	combined oxidative phosphorylation defect type 27	oboInOwl:hasDbXref	Orphanet:477774	Combined oxidative phosphorylation defect type 27	semapv:ManualMappingCuration
MONDO:0014729	hereditary spastic paraplegia 75	oboInOwl:hasDbXref	Orphanet:459056	Autosomal recessive spastic paraplegia type 75	semapv:ManualMappingCuration
MONDO:0014731	seizures-scoliosis-macrocephaly syndrome	oboInOwl:hasDbXref	Orphanet:466926	Seizures-scoliosis-macrocephaly syndrome	semapv:ManualMappingCuration
MONDO:0014732	hypomyelinating leukodystrophy 12	oboInOwl:hasDbXref	Orphanet:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	semapv:ManualMappingCuration
MONDO:0014733	Charcot-Marie-Tooth disease type 4K	oboInOwl:hasDbXref	Orphanet:391351	SURF1-related Charcot-Marie-Tooth disease type 4	semapv:ManualMappingCuration
MONDO:0014735	Charcot-Marie-Tooth disease type 2Y	oboInOwl:hasDbXref	Orphanet:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	semapv:ManualMappingCuration
MONDO:0014736	Charcot-Marie-Tooth disease axonal type 2Z	oboInOwl:hasDbXref	Orphanet:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	semapv:ManualMappingCuration
MONDO:0014741	DeSanto-Shinawi syndrome due to WAC point mutation	oboInOwl:hasDbXref	Orphanet:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	semapv:ManualMappingCuration
MONDO:0014743	rhizomelic chondrodysplasia punctata type 5	oboInOwl:hasDbXref	Orphanet:468717	Rhizomelic chondrodysplasia punctata type 5	semapv:ManualMappingCuration
MONDO:0014744	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0014746	SLC39A8-CDG	oboInOwl:hasDbXref	Orphanet:468699	SLC39A8-CDG	semapv:ManualMappingCuration
MONDO:0014747	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	oboInOwl:hasDbXref	Orphanet:488197	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	semapv:ManualMappingCuration
MONDO:0014748	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014751	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014753	obsolete autosomal recessive optic atrophy	oboInOwl:hasDbXref	Orphanet:98676	Autosomal recessive isolated optic atrophy	semapv:ManualMappingCuration
MONDO:0014757	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	oboInOwl:hasDbXref	Orphanet:487796	Takenouchi-Kosaki syndrome	semapv:ManualMappingCuration
MONDO:0014760	TFRC-related combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:476113	Combined immunodeficiency due to TFRC deficiency	semapv:ManualMappingCuration
MONDO:0014764	spastic paraplegia-severe developmental delay-epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0014773	cardiac anomalies - developmental delay - facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	semapv:ManualMappingCuration
MONDO:0014775	combined oxidative phosphorylation deficiency 28	oboInOwl:hasDbXref	Orphanet:466784	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	semapv:ManualMappingCuration
MONDO:0014776	spinocerebellar ataxia type 42	oboInOwl:hasDbXref	Orphanet:458803	Spinocerebellar ataxia type 42	semapv:ManualMappingCuration
MONDO:0014778	Lamb-Shaffer syndrome	oboInOwl:hasDbXref	Orphanet:530983	Lamb-Shaffer syndrome	semapv:ManualMappingCuration
MONDO:0014781	combined oxidative phosphorylation deficiency 29	oboInOwl:hasDbXref	Orphanet:478029	Combined oxidative phosphorylation defect type 29	semapv:ManualMappingCuration
MONDO:0014782	autosomal recessive limb-girdle muscular dystrophy type 2X	oboInOwl:hasDbXref	Orphanet:476084	BVES-related limb-girdle muscular dystrophy	semapv:ManualMappingCuration
MONDO:0014784	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	oboInOwl:hasDbXref	Orphanet:467176	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	semapv:ManualMappingCuration
MONDO:0014787	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	oboInOwl:hasDbXref	Orphanet:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	semapv:ManualMappingCuration
MONDO:0014788	autosomal recessive limb-girdle muscular dystrophy type 2W	oboInOwl:hasDbXref	Orphanet:466801	OBSOLETE: LIMS2-related myopathy	semapv:ManualMappingCuration
MONDO:0014789	CCDC115-CDG	oboInOwl:hasDbXref	Orphanet:468684	CCDC115-CDG	semapv:ManualMappingCuration
MONDO:0014790	TMEM199-CDG	oboInOwl:hasDbXref	Orphanet:466703	TMEM199-CDG	semapv:ManualMappingCuration
MONDO:0014791	Luscan-Lumish syndrome	oboInOwl:hasDbXref	Orphanet:597738	Luscan-Lumish syndrome	semapv:ManualMappingCuration
MONDO:0014793	microcephaly-congenital cataract-psoriasiform dermatitis syndrome	oboInOwl:hasDbXref	Orphanet:488168	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	semapv:ManualMappingCuration
MONDO:0014797	lymphatic malformation 6	oboInOwl:hasDbXref	Orphanet:568062	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	semapv:ManualMappingCuration
MONDO:0014800	progressive scapulohumeroperoneal distal myopathy	oboInOwl:hasDbXref	Orphanet:447977	Progressive scapulohumeroperoneal distal myopathy	semapv:ManualMappingCuration
MONDO:0014801	even-plus syndrome	oboInOwl:hasDbXref	Orphanet:496751	EVEN-plus syndrome	semapv:ManualMappingCuration
MONDO:0014803	spasticity-ataxia-gait anomalies syndrome	oboInOwl:hasDbXref	Orphanet:401866	Childhood-onset spasticity with hyperglycinemia	semapv:ManualMappingCuration
MONDO:0014804	sideroblastic anemia 3	oboInOwl:hasDbXref	Orphanet:255132	Adult-onset autosomal recessive sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0014805	Hao-Fountain syndrome	oboInOwl:hasDbXref	Orphanet:643549	Hao-Fountain syndrome	semapv:ManualMappingCuration
MONDO:0014809	DDX41-related hematologic malignancy predisposition syndrome	oboInOwl:hasDbXref	Orphanet:488647	DDX41-related hematologic malignancy predisposition syndrome	semapv:ManualMappingCuration
MONDO:0014810	pancytopenia due to IKZF1 mutations	oboInOwl:hasDbXref	Orphanet:317473	Pancytopenia due to IKZF1 mutations	semapv:ManualMappingCuration
MONDO:0014816	split-foot malformation-mesoaxial polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:488232	Split-foot malformation-mesoaxial polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0014821	complex lethal osteochondrodysplasia	oboInOwl:hasDbXref	Orphanet:457378	Complex lethal osteochondrodysplasia	semapv:ManualMappingCuration
MONDO:0014822	15q14 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261190	Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion	semapv:ManualMappingCuration
MONDO:0014823	hypotonia, infantile, with psychomotor retardation and characteristic facies 3	oboInOwl:hasDbXref	Orphanet:488632	TBCK-related intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014827	autosomal recessive spastic paraplegia type 76	oboInOwl:hasDbXref	Orphanet:488594	Autosomal recessive spastic paraplegia type 76	semapv:ManualMappingCuration
MONDO:0014830	platelet-type bleeding disorder 20	oboInOwl:hasDbXref	Orphanet:466806	Autosomal dominant thrombocytopenia with platelet secretion defect	semapv:ManualMappingCuration
MONDO:0014831	progeroid and marfanoid aspect-lipodystrophy syndrome	oboInOwl:hasDbXref	Orphanet:300382	Progeroid and marfanoid aspect-lipodystrophy syndrome	semapv:ManualMappingCuration
MONDO:0014832	intellectual disability, autosomal recessive 53	oboInOwl:hasDbXref	Orphanet:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	semapv:ManualMappingCuration
MONDO:0014837	thrombocytopenia 6	oboInOwl:hasDbXref	Orphanet:480851	Hereditary thrombocytopenia with early-onset myelofibrosis	semapv:ManualMappingCuration
MONDO:0014846	spinocerebellar ataxia, autosomal recessive 23	oboInOwl:hasDbXref	Orphanet:404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	semapv:ManualMappingCuration
MONDO:0014848	TELO2-related intellectual disability-neurodevelopmental disorder	oboInOwl:hasDbXref	Orphanet:488642	TELO2-related intellectual disability-neurodevelopmental disorder	semapv:ManualMappingCuration
MONDO:0014855	intellectual disability, autosomal dominant 42	oboInOwl:hasDbXref	Orphanet:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014856	combined oxidative phosphorylation defect type 30	oboInOwl:hasDbXref	Orphanet:478042	Combined oxidative phosphorylation defect type 30	semapv:ManualMappingCuration
MONDO:0014857	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	oboInOwl:hasDbXref	Orphanet:494344	RERE-related neurodevelopmental syndrome	semapv:ManualMappingCuration
MONDO:0014864	hypermanganesemia with dystonia 2	oboInOwl:hasDbXref	Orphanet:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	semapv:ManualMappingCuration
MONDO:0014865	autosomal recessive severe congenital neutropenia due to CSF3R deficiency	oboInOwl:hasDbXref	Orphanet:420702	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	semapv:ManualMappingCuration
MONDO:0014866	Charcot-Marie-Tooth disease axonal type 2T	oboInOwl:hasDbXref	Orphanet:443950	DNAJB2-related Charcot-Marie-Tooth disease type 2	semapv:ManualMappingCuration
MONDO:0014867	spinocerebellar ataxia 43	oboInOwl:hasDbXref	Orphanet:497764	Spinocerebellar ataxia type 43	semapv:ManualMappingCuration
MONDO:0014869	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	oboInOwl:hasDbXref	Orphanet:528091	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	semapv:ManualMappingCuration
MONDO:0014870	NEK9-related lethal skeletal dysplasia	oboInOwl:hasDbXref	Orphanet:464366	NEK9-related lethal skeletal dysplasia	semapv:ManualMappingCuration
MONDO:0014873	nevus comedonicus syndrome	oboInOwl:hasDbXref	Orphanet:64754	Nevus comedonicus syndrome	semapv:ManualMappingCuration
MONDO:0014875	hyperaldosteronism, familial, type IV	oboInOwl:hasDbXref	Orphanet:642671	Familial hyperaldosteronism type IV	semapv:ManualMappingCuration
MONDO:0014877	myopathy, distal, 5	oboInOwl:hasDbXref	Orphanet:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	semapv:ManualMappingCuration
MONDO:0014881	transketolase deficiency	oboInOwl:hasDbXref	Orphanet:488618	Transketolase deficiency	semapv:ManualMappingCuration
MONDO:0014882	hereditary spastic paraplegia 77	oboInOwl:hasDbXref	Orphanet:466722	Autosomal recessive spastic paraplegia type 77	semapv:ManualMappingCuration
MONDO:0014884	cholestasis, progressive familial intrahepatic, 5	oboInOwl:hasDbXref	Orphanet:480476	Progressive familial intrahepatic cholestasis type 5	semapv:ManualMappingCuration
MONDO:0014885	Hermansky-Pudlak syndrome 10	oboInOwl:hasDbXref	Orphanet:664511	Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency	semapv:ManualMappingCuration
MONDO:0014886	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014888	MIRAGE syndrome	oboInOwl:hasDbXref	Orphanet:494433	MIRAGE syndrome	semapv:ManualMappingCuration
MONDO:0014889	striatonigral degeneration, childhood-onset	oboInOwl:hasDbXref	Orphanet:497906	Childhood-onset basal ganglia degeneration syndrome	semapv:ManualMappingCuration
MONDO:0014890	PERCHING syndrome	oboInOwl:hasDbXref	Orphanet:603684	KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome	semapv:ManualMappingCuration
MONDO:0014892	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014896	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	oboInOwl:hasDbXref	Orphanet:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	semapv:ManualMappingCuration
MONDO:0014899	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	oboInOwl:hasDbXref	Orphanet:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	semapv:ManualMappingCuration
MONDO:0014900	autosomal recessive limb-girdle muscular dystrophy type 2Y	oboInOwl:hasDbXref	Orphanet:424261	TOR1AIP1-related limb-girdle muscular dystrophy	semapv:ManualMappingCuration
MONDO:0014905	encephalopathy due to defective mitochondrial and peroxisomal fission 2	oboInOwl:hasDbXref	Orphanet:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	semapv:ManualMappingCuration
MONDO:0014911	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	oboInOwl:hasDbXref	Orphanet:541423	Growth delay-intellectual disability-hepatopathy syndrome	semapv:ManualMappingCuration
MONDO:0014912	autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	oboInOwl:hasDbXref	Orphanet:500062	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	semapv:ManualMappingCuration
MONDO:0014918	tall stature-intellectual disability-renal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:500095	Tall stature-intellectual disability-renal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0014920	patterned macular dystrophy 3	oboInOwl:hasDbXref	Orphanet:466718	Martinique crinkled retinal pigment epitheliopathy	semapv:ManualMappingCuration
MONDO:0014936	ZTTK syndrome	oboInOwl:hasDbXref	Orphanet:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0014944	short stature-brachydactyly-obesity-global developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014946	Sifrim-Hitz-Weiss syndrome	oboInOwl:hasDbXref	Orphanet:653712	CHD4-related neurodevelopmental disorder	semapv:ManualMappingCuration
MONDO:0014948	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	oboInOwl:hasDbXref	Orphanet:659702	Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome	semapv:ManualMappingCuration
MONDO:0014952	intellectual disability-epilepsy-extrapyramidal syndrome	oboInOwl:hasDbXref	Orphanet:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	semapv:ManualMappingCuration
MONDO:0014953	gnb5-related intellectual disability-cardiac arrhythmia syndrome	oboInOwl:hasDbXref	Orphanet:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	semapv:ManualMappingCuration
MONDO:0014958	Harel-Yoon syndrome	oboInOwl:hasDbXref	Orphanet:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014969	isolated sedoheptulokinase deficiency	oboInOwl:hasDbXref	Orphanet:440713	Isolated sedoheptulokinase deficiency	semapv:ManualMappingCuration
MONDO:0014975	autosomal recessive spastic paraplegia type 78	oboInOwl:hasDbXref	Orphanet:513436	Autosomal recessive spastic paraplegia type 78	semapv:ManualMappingCuration
MONDO:0014976	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:478049	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0014977	autosomal recessive limb-girdle muscular dystrophy type 2R1	oboInOwl:hasDbXref	Orphanet:480682	POGLUT1-related limb-girdle muscular dystrophy R21	semapv:ManualMappingCuration
MONDO:0015003	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	oboInOwl:hasDbXref	Orphanet:508093	MEPAN syndrome	semapv:ManualMappingCuration
MONDO:0015004	dystonia 28, childhood-onset	oboInOwl:hasDbXref	Orphanet:589618	Dystonia 28	semapv:ManualMappingCuration
MONDO:0015006	epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	oboInOwl:hasDbXref	Orphanet:508529	Intermediate epidermolysis bullosa simplex with cardiomyopathy	semapv:ManualMappingCuration
MONDO:0015007	spastic paraplegia, intellectual disability, nystagmus, and obesity	oboInOwl:hasDbXref	Orphanet:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	semapv:ManualMappingCuration
MONDO:0015010	atypical glycine encephalopathy	oboInOwl:hasDbXref	Orphanet:289863	Atypical glycine encephalopathy	semapv:ManualMappingCuration
MONDO:0015012	mucopolysaccharidosis-plus syndrome	oboInOwl:hasDbXref	Orphanet:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	semapv:ManualMappingCuration
MONDO:0015014	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	oboInOwl:hasDbXref	Orphanet:603494	Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome	semapv:ManualMappingCuration
MONDO:0015017	anterior segment dysgenesis 8	oboInOwl:hasDbXref	Orphanet:519388	Autosomal recessive anterior segment dysgenesis	semapv:ManualMappingCuration
MONDO:0015021	hypotonia, ataxia, and delayed development syndrome	oboInOwl:hasDbXref	Orphanet:658843	Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0015027	familial isolated hyperparathyroidism	oboInOwl:hasDbXref	Orphanet:99879	Familial isolated hyperparathyroidism	semapv:ManualMappingCuration
MONDO:0015028	48,XXYY syndrome	oboInOwl:hasDbXref	Orphanet:10	48,XXYY syndrome	semapv:ManualMappingCuration
MONDO:0015029	reticular perineurioma	oboInOwl:hasDbXref	Orphanet:100000	Reticular perineurioma	semapv:ManualMappingCuration
MONDO:0015030	sclerosing perineurioma	oboInOwl:hasDbXref	Orphanet:100001	Sclerosing perineurioma	semapv:ManualMappingCuration
MONDO:0015031	extraneural perineurioma	oboInOwl:hasDbXref	Orphanet:100002	Extraneural perineurioma	semapv:ManualMappingCuration
MONDO:0015032	intraneural perineurioma	oboInOwl:hasDbXref	Orphanet:100003	Intraneural perineurioma	semapv:ManualMappingCuration
MONDO:0015033	ABeta amyloidosis, dutch type	oboInOwl:hasDbXref	Orphanet:100006	ABeta amyloidosis, Dutch type	semapv:ManualMappingCuration
MONDO:0015034	lissencephaly with cerebellar hypoplasia type A	oboInOwl:hasDbXref	Orphanet:100011	Lissencephaly with cerebellar hypoplasia type A	semapv:ManualMappingCuration
MONDO:0015035	lissencephaly with cerebellar hypoplasia type B	oboInOwl:hasDbXref	Orphanet:100012	Lissencephaly with cerebellar hypoplasia type B	semapv:ManualMappingCuration
MONDO:0015036	lissencephaly with cerebellar hypoplasia type C	oboInOwl:hasDbXref	Orphanet:100013	Lissencephaly with cerebellar hypoplasia type C	semapv:ManualMappingCuration
MONDO:0015037	lissencephaly with cerebellar hypoplasia type D	oboInOwl:hasDbXref	Orphanet:100014	Lissencephaly with cerebellar hypoplasia type D	semapv:ManualMappingCuration
MONDO:0015038	lissencephaly with cerebellar hypoplasia type E	oboInOwl:hasDbXref	Orphanet:100015	Lissencephaly with cerebellar hypoplasia type E	semapv:ManualMappingCuration
MONDO:0015039	lissencephaly with cerebellar hypoplasia type F	oboInOwl:hasDbXref	Orphanet:100016	Lissencephaly with cerebellar hypoplasia type F	semapv:ManualMappingCuration
MONDO:0015040	myelodysplastic syndrome with excess blasts-1	oboInOwl:hasDbXref	Orphanet:100019	Myelodysplastic neoplasm with increased blasts type 1	semapv:ManualMappingCuration
MONDO:0015041	myelodysplastic syndrome with excess blasts-2	oboInOwl:hasDbXref	Orphanet:100020	Myelodysplastic neoplasm with increased blasts type 2	semapv:ManualMappingCuration
MONDO:0015042	primary plasmacytoma of the bone	oboInOwl:hasDbXref	Orphanet:100021	Primary plasmacytoma of the bone	semapv:ManualMappingCuration
MONDO:0015043	extramedullary soft tissue plasmacytoma	oboInOwl:hasDbXref	Orphanet:100022	Extramedullary soft tissue plasmacytoma	semapv:ManualMappingCuration
MONDO:0015044	mu-heavy chain disease	oboInOwl:hasDbXref	Orphanet:100024	Mu-heavy chain disease	semapv:ManualMappingCuration
MONDO:0015045	alpha-heavy chain disease	oboInOwl:hasDbXref	Orphanet:100025	Alpha-heavy chain disease	semapv:ManualMappingCuration
MONDO:0015046	gamma-heavy chain disease	oboInOwl:hasDbXref	Orphanet:100026	Gamma-heavy chain disease	semapv:ManualMappingCuration
MONDO:0015047	amelogenesis imperfecta type 1	oboInOwl:hasDbXref	Orphanet:100031	Hypoplastic amelogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0015048	amelogenesis imperfecta type 2	oboInOwl:hasDbXref	Orphanet:100033	Hypomaturation amelogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0015049	solitary necrotic nodule of the liver	oboInOwl:hasDbXref	Orphanet:100035	Solitary necrotic nodule of the liver	semapv:ManualMappingCuration
MONDO:0015050	esophageal duplication cyst	oboInOwl:hasDbXref	Orphanet:100047	Esophageal duplication cyst	semapv:ManualMappingCuration
MONDO:0015051	tubular duplication of the esophagus	oboInOwl:hasDbXref	Orphanet:100048	Tubular duplication of the esophagus	semapv:ManualMappingCuration
MONDO:0015052	obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	oboInOwl:hasDbXref	Orphanet:100049	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	semapv:ManualMappingCuration
MONDO:0015053	hereditary angioedema type 1	oboInOwl:hasDbXref	Orphanet:100050	Hereditary angioedema type 1	semapv:ManualMappingCuration
MONDO:0015054	hereditary angioedema type 2	oboInOwl:hasDbXref	Orphanet:100051	Hereditary angioedema type 2	semapv:ManualMappingCuration
MONDO:0015055	acquired angioedema type 2	oboInOwl:hasDbXref	Orphanet:100055	Acquired angioedema type 2	semapv:ManualMappingCuration
MONDO:0015056	acquired angioedema type 1	oboInOwl:hasDbXref	Orphanet:100056	Acquired angioedema type 1	semapv:ManualMappingCuration
MONDO:0015057	renin-angiotensin-aldosterone system-blocker-induced angioedema	oboInOwl:hasDbXref	Orphanet:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema	semapv:ManualMappingCuration
MONDO:0015059	progressive non-fluent aphasia	oboInOwl:hasDbXref	Orphanet:100070	Progressive non-fluent aphasia	semapv:ManualMappingCuration
MONDO:0015060	mosaic trisomy 3	oboInOwl:hasDbXref	Orphanet:100071	Mosaic trisomy 3 syndrome	semapv:ManualMappingCuration
MONDO:0015061	neurogenic thoracic outlet syndrome	oboInOwl:hasDbXref	Orphanet:100073	Neurogenic thoracic outlet syndrome	semapv:ManualMappingCuration
MONDO:0015063	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade	oboInOwl:hasDbXref	Orphanet:100076	Duodenal neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0015064	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade	oboInOwl:hasDbXref	Orphanet:100077	Jejunal neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0015065	ileal neuroendocrine tumor, well differentiated, low or intermediate grade	oboInOwl:hasDbXref	Orphanet:100078	Ileal neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	oboInOwl:hasDbXref	Orphanet:100079	Neuroendocrine neoplasm of appendix	semapv:ManualMappingCuration
MONDO:0015069	neuroendocrine tumor of the anal canal	oboInOwl:hasDbXref	Orphanet:100082	Neuroendocrine tumor of anal canal	semapv:ManualMappingCuration
MONDO:0015070	laryngeal neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:100083	Laryngeal neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0015071	middle ear neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:100084	Middle ear neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0015072	liver neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:100085	Primary hepatic neuroendocrine carcinoma	semapv:ManualMappingCuration
MONDO:0015073	gallbladder neuroendocrine tumor, grade 1/2	oboInOwl:hasDbXref	Orphanet:100086	Gallbladder neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0015074	thyroid tumor	oboInOwl:hasDbXref	Orphanet:100087	Rare thyroid tumor	semapv:ManualMappingCuration
MONDO:0015075	thyroid gland carcinoma	oboInOwl:hasDbXref	Orphanet:100088	Rare thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0015076	obsolete rare parathyroid tumor	oboInOwl:hasDbXref	Orphanet:100090	Rare parathyroid tumor	semapv:ManualMappingCuration
MONDO:0015079	multiple polyglandular tumor	oboInOwl:hasDbXref	Orphanet:100094	Multiple polyglandular tumor	semapv:ManualMappingCuration
MONDO:0015081	obsolete neuroendocrine tumor with other location	oboInOwl:hasDbXref	Orphanet:100101	Neuroendocrine tumor with other location	semapv:ManualMappingCuration
MONDO:0015082	alopecia antibody deficiency	oboInOwl:hasDbXref	Orphanet:1006	Alopecia antibody deficiency	semapv:ManualMappingCuration
MONDO:0015083	nuclear oculomotor paralysis	oboInOwl:hasDbXref	Orphanet:100932	OBSOLETE: Nuclear oculomotor paralysis	semapv:ManualMappingCuration
MONDO:0015084	FRAXF syndrome	oboInOwl:hasDbXref	Orphanet:100974	FRAXF syndrome	semapv:ManualMappingCuration
MONDO:0015085	bathing suit ichthyosis	oboInOwl:hasDbXref	Orphanet:100976	Bathing suit ichthyosis	semapv:ManualMappingCuration
MONDO:0015086	cloverleaf skull-asphyxiating thoracic dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:100978	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0015087	autosomal dominant complex spastic paraplegia	oboInOwl:hasDbXref	Orphanet:100979	Autosomal dominant complex spastic paraplegia	semapv:ManualMappingCuration
MONDO:0015088	obsolete autosomal dominant pure spastic paraplegia	oboInOwl:hasDbXref	Orphanet:100980	Autosomal dominant pure spastic paraplegia	semapv:ManualMappingCuration
MONDO:0015089	obsolete autosomal recessive complex spastic paraplegia	oboInOwl:hasDbXref	Orphanet:100981	Autosomal recessive complex spastic paraplegia	semapv:ManualMappingCuration
MONDO:0015090	obsolete autosomal recessive pure spastic paraplegia	oboInOwl:hasDbXref	Orphanet:100982	Autosomal recessive pure spastic paraplegia	semapv:ManualMappingCuration
MONDO:0015091	autosomal dominant spastic paraplegia type 9	oboInOwl:hasDbXref	Orphanet:100990	OBSOLETE: Autosomal dominant spastic paraplegia type 9	semapv:ManualMappingCuration
MONDO:0015092	cleft hard palate	oboInOwl:hasDbXref	Orphanet:101023	Cleft hard palate	semapv:ManualMappingCuration
MONDO:0015093	sub-cortical nodular heterotopia	oboInOwl:hasDbXref	Orphanet:101029	Sub-cortical nodular heterotopia	semapv:ManualMappingCuration
MONDO:0015094	subependymal nodular heterotopia	oboInOwl:hasDbXref	Orphanet:101030	Subependymal nodular heterotopia	semapv:ManualMappingCuration
MONDO:0015095	Peters anomaly-cataract syndrome	oboInOwl:hasDbXref	Orphanet:101033	OBSOLETE: Peters anomaly-cataract syndrome	semapv:ManualMappingCuration
MONDO:0015096	familial hypofibrinogenemia	oboInOwl:hasDbXref	Orphanet:101041	Familial hypofibrinogenemia	semapv:ManualMappingCuration
MONDO:0015097	aortic valve dysplasia	oboInOwl:hasDbXref	Orphanet:101043	Congenital aortic valve dysplasia	semapv:ManualMappingCuration
MONDO:0015099	unilateral hemispheric polymicrogyria	oboInOwl:hasDbXref	Orphanet:101071	Unilateral hemispheric polymicrogyria	semapv:ManualMappingCuration
MONDO:0015100	aregenerative anemia	oboInOwl:hasDbXref	Orphanet:101096	OBSOLETE: Aregenerative anemia	semapv:ManualMappingCuration
MONDO:0015101	Marin-Amat syndrome	oboInOwl:hasDbXref	Orphanet:101104	Marin-Amat syndrome	semapv:ManualMappingCuration
MONDO:0015102	non-secreting chemodectoma	oboInOwl:hasDbXref	Orphanet:101106	OBSOLETE: Non-secreting chemodectoma	semapv:ManualMappingCuration
MONDO:0015103	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	oboInOwl:hasDbXref	Orphanet:101206	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome	semapv:ManualMappingCuration
MONDO:0015104	porphyria cutanea tarda	oboInOwl:hasDbXref	Orphanet:101330	Porphyria cutanea tarda	semapv:ManualMappingCuration
MONDO:0015106	obsolete rare urogenital disease	oboInOwl:hasDbXref	Orphanet:101433	Rare urogenital disease	semapv:ManualMappingCuration
MONDO:0015107	obsolete rare genetic eye disease	oboInOwl:hasDbXref	Orphanet:101435	Rare genetic eye disease	semapv:ManualMappingCuration
MONDO:0015108	obsolete rare non-syndromic intellectual disability	oboInOwl:hasDbXref	Orphanet:101685	Rare non-syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0015109	congenital anomaly of the mitral subvalvular apparatus	oboInOwl:hasDbXref	Orphanet:101932	Anomaly of the mitral subvalvular apparatus	semapv:ManualMappingCuration
MONDO:0015110	obsolete genetic cardiac rhythm disease	oboInOwl:hasDbXref	Orphanet:101934	Genetic cardiac rhythm disease	semapv:ManualMappingCuration
MONDO:0015111	obsolete gastroesophageal disease	oboInOwl:hasDbXref	Orphanet:101936	Rare gastroesophageal disease	semapv:ManualMappingCuration
MONDO:0015112	obsolete rare pancreatic disease	oboInOwl:hasDbXref	Orphanet:101937	Rare pancreatic disease	semapv:ManualMappingCuration
MONDO:0015113	obsolete rare vascular liver disease	oboInOwl:hasDbXref	Orphanet:101938	Rare vascular liver disease	semapv:ManualMappingCuration
MONDO:0015114	obsolete rare parenchymal liver disease	oboInOwl:hasDbXref	Orphanet:101939	Rare parenchymal liver disease	semapv:ManualMappingCuration
MONDO:0015115	obsolete rare genetic metabolic liver disease	oboInOwl:hasDbXref	Orphanet:101940	Rare metabolic liver disease	semapv:ManualMappingCuration
MONDO:0015116	obsolete rare biliary tract disease	oboInOwl:hasDbXref	Orphanet:101941	Rare biliary tract disease	semapv:ManualMappingCuration
MONDO:0015117	obsolete rare hepatic and biliary tract tumor	oboInOwl:hasDbXref	Orphanet:101943	Rare hepatic and biliary tract tumor	semapv:ManualMappingCuration
MONDO:0015118	obsolete rare pulmonary disease	oboInOwl:hasDbXref	Orphanet:101944	Rare pulmonary disease	semapv:ManualMappingCuration
MONDO:0015119	obsolete bronchopulmonary tumor	oboInOwl:hasDbXref	Orphanet:101945	Rare bronchopulmonary and pleural cavity tumors	semapv:ManualMappingCuration
MONDO:0015120	obsolete rare acquired eye disease	oboInOwl:hasDbXref	Orphanet:101949	OBSOLETE: Rare acquired eye disease	semapv:ManualMappingCuration
MONDO:0015121	obsolete rare eye tumor	oboInOwl:hasDbXref	Orphanet:101950	Rare eye tumor	semapv:ManualMappingCuration
MONDO:0015122	obsolete rare diabetes mellitus	oboInOwl:hasDbXref	Orphanet:101952	Rare diabetes mellitus	semapv:ManualMappingCuration
MONDO:0015123	obsolete rare inherited dyslipidemia	oboInOwl:hasDbXref	Orphanet:101953	Rare dyslipidemia	semapv:ManualMappingCuration
MONDO:0015124	obsolete rare adrenal disease	oboInOwl:hasDbXref	Orphanet:101954	Rare adrenal disease	semapv:ManualMappingCuration
MONDO:0015125	obsolete rare thyroid disease	oboInOwl:hasDbXref	Orphanet:101955	Rare thyroid disease	semapv:ManualMappingCuration
MONDO:0015126	polyendocrinopathy	oboInOwl:hasDbXref	Orphanet:101956	Polyendocrinopathy	semapv:ManualMappingCuration
MONDO:0015127	pituitary deficiency	oboInOwl:hasDbXref	Orphanet:101957	Pituitary deficiency	semapv:ManualMappingCuration
MONDO:0015128	primary adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:101958	Primary adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0015129	chronic primary adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:101959	Chronic primary adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0015130	obsolete acquired chronic primary adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:101963	Acquired chronic primary adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0015131	combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:101972	Combined T and B cell immunodeficiency	semapv:ManualMappingCuration
MONDO:0015132	obsolete immunodeficiency predominantly affecting antibody production	oboInOwl:hasDbXref	Orphanet:101977	Immunodeficiency predominantly affecting antibody production	semapv:ManualMappingCuration
MONDO:0015133	obsolete quantitative and/or qualitative congenital phagocyte defect	oboInOwl:hasDbXref	Orphanet:101985	Quantitative and/or qualitative congenital phagocyte defect	semapv:ManualMappingCuration
MONDO:0015134	constitutional neutropenia	oboInOwl:hasDbXref	Orphanet:101987	Congenital neutropenia	semapv:ManualMappingCuration
MONDO:0015135	obsolete primary immunodeficiency due to a genetic defect in innate immunity	oboInOwl:hasDbXref	Orphanet:101988	Primary immunodeficiency due to a defect in innate immunity	semapv:ManualMappingCuration
MONDO:0015136	obsolete immunodeficiency due to a genetic complement cascade protein anomaly	oboInOwl:hasDbXref	Orphanet:101992	Immunodeficiency due to a complement cascade protein anomaly	semapv:ManualMappingCuration
MONDO:0015137	periodic fever syndrome	oboInOwl:hasDbXref	Orphanet:101995	Periodic fever syndrome	semapv:ManualMappingCuration
MONDO:0015139	obsolete rare epilepsy	oboInOwl:hasDbXref	Orphanet:101998	Rare epilepsy	semapv:ManualMappingCuration
MONDO:0015140	early-onset autosomal dominant Alzheimer disease	oboInOwl:hasDbXref	Orphanet:1020	Early-onset autosomal dominant Alzheimer disease	semapv:ManualMappingCuration
MONDO:0015141	obsolete disorder of medulla oblongata	oboInOwl:hasDbXref	Orphanet:102000	Medullar disease	semapv:ManualMappingCuration
MONDO:0015143	obsolete rare movement disorder	oboInOwl:hasDbXref	Orphanet:102003	Rare movement disorder	semapv:ManualMappingCuration
MONDO:0015144	obsolete brain inflammatory disease	oboInOwl:hasDbXref	Orphanet:102005	Brain inflammatory disease	semapv:ManualMappingCuration
MONDO:0015145	obsolete neurovascular malformation	oboInOwl:hasDbXref	Orphanet:102006	Neurovascular malformation	semapv:ManualMappingCuration
MONDO:0015146	classic lissencephaly	oboInOwl:hasDbXref	Orphanet:102009	Classic lissencephaly	semapv:ManualMappingCuration
MONDO:0015147	obsolete other syndrome with lissencephaly as a major feature	oboInOwl:hasDbXref	Orphanet:102010	Other syndrome with lissencephaly as a major feature	semapv:ManualMappingCuration
MONDO:0015148	lissencephaly type 3	oboInOwl:hasDbXref	Orphanet:102011	Lissencephaly type 3	semapv:ManualMappingCuration
MONDO:0015149	pure hereditary spastic paraplegia	oboInOwl:hasDbXref	Orphanet:102012	Pure hereditary spastic paraplegia	semapv:ManualMappingCuration
MONDO:0015150	complex hereditary spastic paraplegia	oboInOwl:hasDbXref	Orphanet:102013	Complex hereditary spastic paraplegia	semapv:ManualMappingCuration
MONDO:0015151	muscular dystrophy, limb-girdle, autosomal dominant	oboInOwl:hasDbXref	Orphanet:102014	Autosomal dominant limb-girdle muscular dystrophy	semapv:ManualMappingCuration
MONDO:0015152	autosomal recessive limb-girdle muscular dystrophy	oboInOwl:hasDbXref	Orphanet:102015	Autosomal recessive limb-girdle muscular dystrophy	semapv:ManualMappingCuration
MONDO:0015153	obsolete autosomal monosomy	oboInOwl:hasDbXref	Orphanet:102020	Autosomal monosomy syndrome	semapv:ManualMappingCuration
MONDO:0015157	human herpesvirus 8-related tumor	oboInOwl:hasDbXref	Orphanet:102024	Human herpesvirus 8-related disorder	semapv:ManualMappingCuration
MONDO:0015158	unexplained periodic fever syndrome	oboInOwl:hasDbXref	Orphanet:102237	Unexplained periodic fever syndrome	semapv:ManualMappingCuration
MONDO:0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	oboInOwl:hasDbXref	Orphanet:102283	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	semapv:ManualMappingCuration
MONDO:0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:102284	OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability	oboInOwl:hasDbXref	Orphanet:102285	Multiple congenital anomalies/dysmorphic syndrome without intellectual disability	semapv:ManualMappingCuration
MONDO:0015162	obsolete rare syndromic intellectual disability	oboInOwl:hasDbXref	Orphanet:102369	Rare syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0015163	obsolete primary glomerular disease	oboInOwl:hasDbXref	Orphanet:102373	OBSOLETE: Primary glomerular disease	semapv:ManualMappingCuration
MONDO:0015164	acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	oboInOwl:hasDbXref	Orphanet:102379	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	semapv:ManualMappingCuration
MONDO:0015165	acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	oboInOwl:hasDbXref	Orphanet:102381	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	semapv:ManualMappingCuration
MONDO:0015166	acute myeloid leukemia with t(8;21)(q22;q22) translocation	oboInOwl:hasDbXref	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	semapv:ManualMappingCuration
MONDO:0015167	amniotic band syndrome	oboInOwl:hasDbXref	Orphanet:1034	OBSOLETE: Amniotic bands	semapv:ManualMappingCuration
MONDO:0015167	amniotic band syndrome	oboInOwl:hasDbXref	Orphanet:295000	Amniotic band syndrome	semapv:ManualMappingCuration
MONDO:0015168	arthrogryposis multiplex congenita	oboInOwl:hasDbXref	Orphanet:1037	Arthrogryposis multiplex congenita	semapv:ManualMappingCuration
MONDO:0015169	chronic diarrhea due to glucoamylase deficiency	oboInOwl:hasDbXref	Orphanet:103907	Chronic diarrhea due to glucoamylase deficiency	semapv:ManualMappingCuration
MONDO:0015170	congenital sodium diarrhea	oboInOwl:hasDbXref	Orphanet:103908	Congenital sodium diarrhea	semapv:ManualMappingCuration
MONDO:0015171	congenital enterocyte heparan sulfate deficiency	oboInOwl:hasDbXref	Orphanet:103910	Congenital enterocyte heparan sulfate deficiency	semapv:ManualMappingCuration
MONDO:0015172	obsolete epithelio-exfoliative colitis-deafness syndrome	oboInOwl:hasDbXref	Orphanet:103912	OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome	semapv:ManualMappingCuration
MONDO:0015173	obsolete autoimmune enteropathy type 2	oboInOwl:hasDbXref	Orphanet:103916	OBSOLETE: Autoimmune enteropathy type 2	semapv:ManualMappingCuration
MONDO:0015174	autoimmune enteropathy type 3	oboInOwl:hasDbXref	Orphanet:103917	OBSOLETE: Autoimmune enteropathy type 3	semapv:ManualMappingCuration
MONDO:0015175	autoimmune pancreatitis	oboInOwl:hasDbXref	Orphanet:103919	Autoimmune pancreatitis	semapv:ManualMappingCuration
MONDO:0015176	undetermined colitis	oboInOwl:hasDbXref	Orphanet:103920	Undetermined colitis	semapv:ManualMappingCuration
MONDO:0015177	metaphyseal anadysplasia	oboInOwl:hasDbXref	Orphanet:1040	Metaphyseal anadysplasia	semapv:ManualMappingCuration
MONDO:0015178	obsolete congenital intestinal transport defect	oboInOwl:hasDbXref	Orphanet:104003	Congenital intestinal transport defect	semapv:ManualMappingCuration
MONDO:0015179	obsolete intestinal disease due to vitamin absorption anomaly	oboInOwl:hasDbXref	Orphanet:104004	Intestinal disease due to vitamin absorption anomaly	semapv:ManualMappingCuration
MONDO:0015180	obsolete intestinal disease due to fat malabsorption	oboInOwl:hasDbXref	Orphanet:104005	Intestinal disease due to fat malabsorption	semapv:ManualMappingCuration
MONDO:0015181	obsolete congenital intestinal disease due to an enzymatic defect	oboInOwl:hasDbXref	Orphanet:104006	Congenital intestinal disease due to an enzymatic defect	semapv:ManualMappingCuration
MONDO:0015182	obsolete congenital enteropathy involving intestinal mucosa development	oboInOwl:hasDbXref	Orphanet:104007	Congenital enteropathy involving intestinal mucosa development	semapv:ManualMappingCuration
MONDO:0015183	short bowel syndrome	oboInOwl:hasDbXref	Orphanet:104008	Short bowel syndrome	semapv:ManualMappingCuration
MONDO:0015184	obsolete rare disease involving intestinal motility	oboInOwl:hasDbXref	Orphanet:104009	Rare disease involving intestinal motility	semapv:ManualMappingCuration
MONDO:0015185	intestinal polyposis syndrome	oboInOwl:hasDbXref	Orphanet:104010	Intestinal polyposis syndrome	semapv:ManualMappingCuration
MONDO:0015186	obsolete rare tumor of intestine	oboInOwl:hasDbXref	Orphanet:104011	Rare tumor of intestine	semapv:ManualMappingCuration
MONDO:0015187	obsolete rare inflammatory bowel disease	oboInOwl:hasDbXref	Orphanet:104012	Rare inflammatory bowel disease	semapv:ManualMappingCuration
MONDO:0015188	obsolete metabolic disorder with intestinal involvement	oboInOwl:hasDbXref	Orphanet:104013	Metabolic disease with intestinal involvement	semapv:ManualMappingCuration
MONDO:0015191	myopathic intestinal pseudoobstruction	oboInOwl:hasDbXref	Orphanet:104077	Myopathic intestinal pseudoobstruction	semapv:ManualMappingCuration
MONDO:0015192	obsolete unclassified intestinal pseudoobstruction	oboInOwl:hasDbXref	Orphanet:104078	Unclassified intestinal pseudoobstruction	semapv:ManualMappingCuration
MONDO:0015193	hydrops fetalis	oboInOwl:hasDbXref	Orphanet:1041	Hydrops fetalis	semapv:ManualMappingCuration
MONDO:0015194	sideroblastic anemia	oboInOwl:hasDbXref	Orphanet:1047	Sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0015195	atresia of urethra	oboInOwl:hasDbXref	Orphanet:105	Atresia of urethra	semapv:ManualMappingCuration
MONDO:0015196	vein of Galen aneurysm	oboInOwl:hasDbXref	Orphanet:1053	Vein of Galen aneurysmal malformation	semapv:ManualMappingCuration
MONDO:0015197	aneurysm of sinus of Valsalva	oboInOwl:hasDbXref	Orphanet:1054	Aneurysm of sinus of Valsalva	semapv:ManualMappingCuration
MONDO:0015198	aniridia-ptosis-intellectual disability-familial obesity syndrome	oboInOwl:hasDbXref	Orphanet:1067	Aniridia-ptosis-intellectual disability-familial obesity syndrome	semapv:ManualMappingCuration
MONDO:0015199	aniridia - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1068	Aniridia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0015200	anisakiasis	oboInOwl:hasDbXref	Orphanet:1070	Anisakiasis	semapv:ManualMappingCuration
MONDO:0015201	ankyloblepharon filiforme-imperforate anus syndrome	oboInOwl:hasDbXref	Orphanet:1074	Ankyloblepharon filiforme adnatum-imperforate anus syndrome	semapv:ManualMappingCuration
MONDO:0015203	coronary artery congenital malformation	oboInOwl:hasDbXref	Orphanet:1081	Coronary artery congenital malformation	semapv:ManualMappingCuration
MONDO:0015204	microlissencephaly	oboInOwl:hasDbXref	Orphanet:1083	Microlissencephaly	semapv:ManualMappingCuration
MONDO:0015205	isolated lissencephaly type 1 without known genetic defects	oboInOwl:hasDbXref	Orphanet:1084	Isolated lissencephaly type 1 without known genetic defects	semapv:ManualMappingCuration
MONDO:0015206	short stature-heart defect-craniofacial anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1088	OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome	semapv:ManualMappingCuration
MONDO:0015207	obsolete non-syndromic esophageal malformation	oboInOwl:hasDbXref	Orphanet:108959	Non-syndromic esophageal malformation	semapv:ManualMappingCuration
MONDO:0015208	obsolete syndromic esophageal malformation	oboInOwl:hasDbXref	Orphanet:108961	Syndromic esophageal malformation	semapv:ManualMappingCuration
MONDO:0015209	obsolete non-syndromic gastroduodenal malformation	oboInOwl:hasDbXref	Orphanet:108963	Non-syndromic gastroduodenal malformation	semapv:ManualMappingCuration
MONDO:0015210	obsolete syndromic gastroduodenal malformation	oboInOwl:hasDbXref	Orphanet:108965	Syndromic gastroduodenal malformation	semapv:ManualMappingCuration
MONDO:0015211	obsolete non-syndromic intestinal malformation	oboInOwl:hasDbXref	Orphanet:108967	Non-syndromic intestinal malformation	semapv:ManualMappingCuration
MONDO:0015212	obsolete syndromic intestinal malformation	oboInOwl:hasDbXref	Orphanet:108969	Syndromic intestinal malformation	semapv:ManualMappingCuration
MONDO:0015213	obsolete non-syndromic visceral malformation	oboInOwl:hasDbXref	Orphanet:108971	Non-syndromic visceral malformation	semapv:ManualMappingCuration
MONDO:0015214	obsolete syndromic visceral malformation	oboInOwl:hasDbXref	Orphanet:108973	Syndromic visceral malformation	semapv:ManualMappingCuration
MONDO:0015215	obsolete non-syndromic diaphragmatic or abdominal wall malformation	oboInOwl:hasDbXref	Orphanet:108977	Non-syndromic diaphragmatic or abdominal wall malformation	semapv:ManualMappingCuration
MONDO:0015216	obsolete syndromic diaphragmatic or abdominal wall malformation	oboInOwl:hasDbXref	Orphanet:108979	Syndromic diaphragmatic or abdominal wall malformation	semapv:ManualMappingCuration
MONDO:0015217	obsolete non-syndromic developmental defect of the eye	oboInOwl:hasDbXref	Orphanet:108985	OBSOLETE: Non-syndromic developmental defect of the eye	semapv:ManualMappingCuration
MONDO:0015218	obsolete syndromic developmental defect of the eye	oboInOwl:hasDbXref	Orphanet:108987	OBSOLETE: Syndromic developmental defect of the eye	semapv:ManualMappingCuration
MONDO:0015219	obsolete non-syndromic central nervous system malformation	oboInOwl:hasDbXref	Orphanet:108989	Non-syndromic central nervous system malformation	semapv:ManualMappingCuration
MONDO:0015220	obsolete syndrome with a central nervous system malformation as major feature	oboInOwl:hasDbXref	Orphanet:108991	Syndrome with a central nervous system malformation as a major feature	semapv:ManualMappingCuration
MONDO:0015221	obsolete non-syndromic respiratory or mediastinal malformation	oboInOwl:hasDbXref	Orphanet:108993	Non-syndromic respiratory or mediastinal malformation	semapv:ManualMappingCuration
MONDO:0015222	obsolete syndromic respiratory or mediastinal malformation	oboInOwl:hasDbXref	Orphanet:108995	Syndromic respiratory or mediastinal malformation	semapv:ManualMappingCuration
MONDO:0015223	obsolete rare anemia	oboInOwl:hasDbXref	Orphanet:108997	Rare anemia	semapv:ManualMappingCuration
MONDO:0015224	obsolete rare intoxication	oboInOwl:hasDbXref	Orphanet:108999	Rare disorder due to toxic effects	semapv:ManualMappingCuration
MONDO:0015225	arthrogryposis syndrome	oboInOwl:hasDbXref	Orphanet:109007	Arthrogryposis syndrome	semapv:ManualMappingCuration
MONDO:0015226	obsolete syndrome with limb malformations as a major feature	oboInOwl:hasDbXref	Orphanet:109009	Syndrome with limb malformations as a major feature	semapv:ManualMappingCuration
MONDO:0015227	obsolete non-syndromic limb malformation	oboInOwl:hasDbXref	Orphanet:109011	Non-syndromic limb malformation	semapv:ManualMappingCuration
MONDO:0015228	pentasomy X	oboInOwl:hasDbXref	Orphanet:11	Pentasomy X syndrome	semapv:ManualMappingCuration
MONDO:0015229	Bardet-Biedl syndrome	oboInOwl:hasDbXref	Orphanet:110	Bardet-Biedl syndrome	semapv:ManualMappingCuration
MONDO:0015230	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1101	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0015231	Bartter syndrome	oboInOwl:hasDbXref	Orphanet:112	Bartter syndrome	semapv:ManualMappingCuration
MONDO:0015232	radial deficiency-tibial hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:1121	Radial deficiency-tibial hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0015233	caudal appendage-deafness syndrome	oboInOwl:hasDbXref	Orphanet:1123	Caudal appendage-deafness syndrome	semapv:ManualMappingCuration
MONDO:0015234	arachnodactyly-abnormal ossification-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1129	Arachnodactyly-abnormal ossification-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0015235	arachnodactyly-intellectual disability-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:1130	Arachnodactyly-intellectual disability-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0015236	aortic arch defects	oboInOwl:hasDbXref	Orphanet:1132	Aortic arch defects	semapv:ManualMappingCuration
MONDO:0015237	arrhinia	oboInOwl:hasDbXref	Orphanet:1134	Isolated arrhinia	semapv:ManualMappingCuration
MONDO:0015239	abnormal origin of the pulmonary artery	oboInOwl:hasDbXref	Orphanet:1138	Abnormal origin of the pulmonary artery	semapv:ManualMappingCuration
MONDO:0015240	digitotalar dysmorphism	oboInOwl:hasDbXref	Orphanet:1146	Distal arthrogryposis type 1	semapv:ManualMappingCuration
MONDO:0015241	arthrogryposis-like syndrome	oboInOwl:hasDbXref	Orphanet:1149	Kuskokwim syndrome	semapv:ManualMappingCuration
MONDO:0015243	allergic bronchopulmonary aspergillosis	oboInOwl:hasDbXref	Orphanet:1164	Allergic bronchopulmonary aspergillosis	semapv:ManualMappingCuration
MONDO:0015244	autosomal recessive cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:1172	Autosomal recessive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0015245	obsolete rare intestinal disease	oboInOwl:hasDbXref	Orphanet:117569	Rare intestinal disease	semapv:ManualMappingCuration
MONDO:0015246	obsolete syndromic anorectal malformation	oboInOwl:hasDbXref	Orphanet:117573	Syndromic anorectal malformation	semapv:ManualMappingCuration
MONDO:0015247	opsoclonus-myoclonus syndrome	oboInOwl:hasDbXref	Orphanet:1183	Opsoclonus-myoclonus syndrome	semapv:ManualMappingCuration
MONDO:0015248	ataxia-photosensitivity-short stature syndrome	oboInOwl:hasDbXref	Orphanet:1184	Ataxia-photosensitivity-short stature syndrome	semapv:ManualMappingCuration
MONDO:0015249	mitral atresia disorder	oboInOwl:hasDbXref	Orphanet:1205	Mitral atresia	semapv:ManualMappingCuration
MONDO:0015250	spinal atrophy-ophthalmoplegia-pyramidal syndrome	oboInOwl:hasDbXref	Orphanet:1217	Spinal atrophy-ophthalmoplegia-pyramidal syndrome	semapv:ManualMappingCuration
MONDO:0015252	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	oboInOwl:hasDbXref	Orphanet:1236	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	semapv:ManualMappingCuration
MONDO:0015253	Diamond-Blackfan anemia	oboInOwl:hasDbXref	Orphanet:124	Diamond-Blackfan anemia	semapv:ManualMappingCuration
MONDO:0015254	schistosomiasis	oboInOwl:hasDbXref	Orphanet:1247	Schistosomiasis	semapv:ManualMappingCuration
MONDO:0015255	obsolete blepharophimosis-radioulnar synostosis syndrome	oboInOwl:hasDbXref	Orphanet:1256	OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome	semapv:ManualMappingCuration
MONDO:0015256	blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1258	OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome	semapv:ManualMappingCuration
MONDO:0015257	sino-auricular heart block	oboInOwl:hasDbXref	Orphanet:1260	OBSOLETE: Sino-auricular heart block	semapv:ManualMappingCuration
MONDO:0015259	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	oboInOwl:hasDbXref	Orphanet:1277	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome	semapv:ManualMappingCuration
MONDO:0015260	diphyllobothriasis	oboInOwl:hasDbXref	Orphanet:128	Diphyllobothriasis	semapv:ManualMappingCuration
MONDO:0015261	pseudopelade of Brocq	oboInOwl:hasDbXref	Orphanet:129	Pseudopelade of Brocq	semapv:ManualMappingCuration
MONDO:0015262	brachyolmia	oboInOwl:hasDbXref	Orphanet:1293	Brachyolmia	semapv:ManualMappingCuration
MONDO:0015263	Brugada syndrome	oboInOwl:hasDbXref	Orphanet:130	Brugada syndrome	semapv:ManualMappingCuration
MONDO:0015264	cryptogenic organizing pneumonia	oboInOwl:hasDbXref	Orphanet:1302	Cryptogenic organizing pneumonia	semapv:ManualMappingCuration
MONDO:0015265	bronchiolitis obliterans syndrome	oboInOwl:hasDbXref	Orphanet:1303	Bronchiolitis obliterans	semapv:ManualMappingCuration
MONDO:0015267	Feingold syndrome	oboInOwl:hasDbXref	Orphanet:1305	Feingold syndrome	semapv:ManualMappingCuration
MONDO:0015268	medullary sponge kidney	oboInOwl:hasDbXref	Orphanet:1309	Medullary sponge kidney	semapv:ManualMappingCuration
MONDO:0015269	symmetrical thalamic calcifications	oboInOwl:hasDbXref	Orphanet:1314	Symmetrical thalamic calcifications	semapv:ManualMappingCuration
MONDO:0015270	butyrylcholinesterase deficiency	oboInOwl:hasDbXref	Orphanet:132	Hereditary butyrylcholinesterase deficiency	semapv:ManualMappingCuration
MONDO:0015271	idiopathic camptocormia	oboInOwl:hasDbXref	Orphanet:1320	Idiopathic camptocormia	semapv:ManualMappingCuration
MONDO:0015272	camptodactyly-taurinuria syndrome	oboInOwl:hasDbXref	Orphanet:1325	Camptodactyly-taurinuria syndrome	semapv:ManualMappingCuration
MONDO:0015273	complete atrioventricular canal	oboInOwl:hasDbXref	Orphanet:1329	Complete atrioventricular septal defect	semapv:ManualMappingCuration
MONDO:0015274	chronic beryllium disease	oboInOwl:hasDbXref	Orphanet:133	Chronic beryllium disease	semapv:ManualMappingCuration
MONDO:0015275	partial atrioventricular canal	oboInOwl:hasDbXref	Orphanet:1330	Partial atrioventricular septal defect	semapv:ManualMappingCuration
MONDO:0015277	medullary thyroid gland carcinoma	oboInOwl:hasDbXref	Orphanet:1332	Medullary thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0015278	familial pancreatic carcinoma	oboInOwl:hasDbXref	Orphanet:1333	Familial pancreatic carcinoma	semapv:ManualMappingCuration
MONDO:0015279	chronic mucocutaneous candidiasis	oboInOwl:hasDbXref	Orphanet:1334	Chronic mucocutaneous candidiasis	semapv:ManualMappingCuration
MONDO:0015280	cardiofaciocutaneous syndrome	oboInOwl:hasDbXref	Orphanet:1340	Cardiofaciocutaneous syndrome	semapv:ManualMappingCuration
MONDO:0015281	atrial standstill	oboInOwl:hasDbXref	Orphanet:1344	Atrial standstill	semapv:ManualMappingCuration
MONDO:0015282	cardiomyopathy-cataract-hip spine disease syndrome	oboInOwl:hasDbXref	Orphanet:1345	Cardiomyopathy-cataract-hip spine disease syndrome	semapv:ManualMappingCuration
MONDO:0015283	maternally-inherited cardiomyopathy and hearing loss	oboInOwl:hasDbXref	Orphanet:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	semapv:ManualMappingCuration
MONDO:0015284	heart-hand syndrome type 2	oboInOwl:hasDbXref	Orphanet:1350	Heart-hand syndrome type 2	semapv:ManualMappingCuration
MONDO:0015285	Carney complex	oboInOwl:hasDbXref	Orphanet:1359	Carney complex	semapv:ManualMappingCuration
MONDO:0015286	congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:137	Congenital disorder of glycosylation	semapv:ManualMappingCuration
MONDO:0015288	herpes simplex virus keratitis	oboInOwl:hasDbXref	Orphanet:137586	OBSOLETE: Herpes simplex virus keratitis	semapv:ManualMappingCuration
MONDO:0015289	infectious epithelial keratitis	oboInOwl:hasDbXref	Orphanet:137593	Infectious epithelial keratitis	semapv:ManualMappingCuration
MONDO:0015290	neurotrophic keratopathy	oboInOwl:hasDbXref	Orphanet:137596	Neurotrophic keratopathy	semapv:ManualMappingCuration
MONDO:0015291	stromal keratitis	oboInOwl:hasDbXref	Orphanet:137599	Herpes simplex virus stromal keratitis	semapv:ManualMappingCuration
MONDO:0015292	endotheliitis	oboInOwl:hasDbXref	Orphanet:137602	Corneal endotheliitis	semapv:ManualMappingCuration
MONDO:0015293	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	oboInOwl:hasDbXref	Orphanet:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	semapv:ManualMappingCuration
MONDO:0015294	nephrogenic systemic fibrosis	oboInOwl:hasDbXref	Orphanet:137617	Nephrogenic systemic fibrosis	semapv:ManualMappingCuration
MONDO:0015295	intractable diarrhea-choanal atresia-eye anomalies syndrome	oboInOwl:hasDbXref	Orphanet:137622	Intractable diarrhea-choanal atresia-eye anomalies syndrome	semapv:ManualMappingCuration
MONDO:0015296	cardiac anomalies-heterotaxy syndrome	oboInOwl:hasDbXref	Orphanet:137628	Cardiac anomalies-heterotaxy syndrome	semapv:ManualMappingCuration
MONDO:0015297	obsolete microcephaly-digital anomalies-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:137653	Microcephaly-digital anomalies-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0015298	pellucid marginal degeneration	oboInOwl:hasDbXref	Orphanet:137672	Pellucid marginal degeneration	semapv:ManualMappingCuration
MONDO:0015299	Asherman syndrome	oboInOwl:hasDbXref	Orphanet:137686	Asherman syndrome	semapv:ManualMappingCuration
MONDO:0015300	cataract - microcornea syndrome	oboInOwl:hasDbXref	Orphanet:1377	Cataract-microcornea syndrome	semapv:ManualMappingCuration
MONDO:0015301	primary cutaneous amyloidosis	oboInOwl:hasDbXref	Orphanet:137807	Primary cutaneous amyloidosis	semapv:ManualMappingCuration
MONDO:0015302	nodular cutaneous amyloidosis	oboInOwl:hasDbXref	Orphanet:137810	Nodular cutaneous amyloidosis	semapv:ManualMappingCuration
MONDO:0015303	macular amyloidosis	oboInOwl:hasDbXref	Orphanet:137814	Macular amyloidosis	semapv:ManualMappingCuration
MONDO:0015304	arachnoiditis	oboInOwl:hasDbXref	Orphanet:137817	Arachnoiditis	semapv:ManualMappingCuration
MONDO:0015305	obsolete rare endometriosis	oboInOwl:hasDbXref	Orphanet:137820	Extrapelvic endometriosis	semapv:ManualMappingCuration
MONDO:0015306	Lemierre syndrome	oboInOwl:hasDbXref	Orphanet:137839	Lemierre syndrome	semapv:ManualMappingCuration
MONDO:0015307	Madras motor neuron disease	oboInOwl:hasDbXref	Orphanet:137867	Madras motor neuron disease	semapv:ManualMappingCuration
MONDO:0015308	laminopathy type Decaudain-Vigouroux	oboInOwl:hasDbXref	Orphanet:137871	OBSOLETE: Laminopathy type Decaudain-Vigouroux	semapv:ManualMappingCuration
MONDO:0015310	obsolete syndromic optic nerve hypoplasia	oboInOwl:hasDbXref	Orphanet:137905	Syndromic optic nerve hypoplasia	semapv:ManualMappingCuration
MONDO:0015311	autism-facial port-wine stain syndrome	oboInOwl:hasDbXref	Orphanet:137911	Autism-facial port-wine stain syndrome	semapv:ManualMappingCuration
MONDO:0015312	choanal atresia, unilateral	oboInOwl:hasDbXref	Orphanet:137917	Choanal atresia, unilateral	semapv:ManualMappingCuration
MONDO:0015313	choanal atresia, bilateral	oboInOwl:hasDbXref	Orphanet:137920	Choanal atresia, bilateral	semapv:ManualMappingCuration
MONDO:0015314	primary laryngeal lymphangioma	oboInOwl:hasDbXref	Orphanet:137926	Primary laryngeal lymphangioma	semapv:ManualMappingCuration
MONDO:0015315	neonatal brainstem dysfunction	oboInOwl:hasDbXref	Orphanet:137929	Neonatal brainstem dysfunction	semapv:ManualMappingCuration
MONDO:0015316	congenital laryngeal palsy	oboInOwl:hasDbXref	Orphanet:137932	Congenital laryngeal palsy	semapv:ManualMappingCuration
MONDO:0015317	laryngotracheal angioma	oboInOwl:hasDbXref	Orphanet:137935	Airway infantile hemangioma	semapv:ManualMappingCuration
MONDO:0015319	obsolete rare disease with Pierre Robin syndrome	oboInOwl:hasDbXref	Orphanet:138044	Rare disease with Pierre Robin syndrome	semapv:ManualMappingCuration
MONDO:0015323	obsolete teratogenic Pierre Robin syndrome	oboInOwl:hasDbXref	Orphanet:138059	Teratogenic Pierre Robin syndrome	semapv:ManualMappingCuration
MONDO:0015324	cataract-intellectual disability-anal atresia-urinary defects syndrome	oboInOwl:hasDbXref	Orphanet:1381	Cataract-intellectual disability-anal atresia-urinary defects syndrome	semapv:ManualMappingCuration
MONDO:0015325	cataract-deafness-hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:1383	Cataract-deafness-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0015326	night blindness-skeletal anomalies-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:1390	Night blindness-skeletal anomalies-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0015327	developmental anomaly of metabolic origin	oboInOwl:hasDbXref	Orphanet:139009	Developmental anomaly of metabolic origin	semapv:ManualMappingCuration
MONDO:0015328	obsolete rare bone development disorder	oboInOwl:hasDbXref	Orphanet:139012	Rare bone development disorder	semapv:ManualMappingCuration
MONDO:0015329	obsolete malformation syndrome with short stature	oboInOwl:hasDbXref	Orphanet:139021	Malformation syndrome with short stature	semapv:ManualMappingCuration
MONDO:0015330	obsolete overgrowth/obesity syndrome	oboInOwl:hasDbXref	Orphanet:139024	Overgrowth/obesity syndrome	semapv:ManualMappingCuration
MONDO:0015331	obsolete malformation syndrome with skin/mucosae involvement	oboInOwl:hasDbXref	Orphanet:139027	Rare developmental defect with skin/mucosae involvement	semapv:ManualMappingCuration
MONDO:0015332	obsolete rare developmental defect with connective tissue involvement	oboInOwl:hasDbXref	Orphanet:139030	Rare developmental defect with connective tissue involvement	semapv:ManualMappingCuration
MONDO:0015333	progeroid syndrome	oboInOwl:hasDbXref	Orphanet:139033	Progeroid syndrome	semapv:ManualMappingCuration
MONDO:0015334	obsolete branchial arch or oral-acral syndrome	oboInOwl:hasDbXref	Orphanet:139036	Branchial arch or oral-acral syndrome	semapv:ManualMappingCuration
MONDO:0015335	obsolete Mendelian syndromes with cleft lip/palate	oboInOwl:hasDbXref	Orphanet:139039	Orofacial clefting syndrome	semapv:ManualMappingCuration
MONDO:0015336	obsolete malformation syndrome with odontal and/or periodontal component	oboInOwl:hasDbXref	Orphanet:139042	Malformation syndrome with odontal and/or periodontal component	semapv:ManualMappingCuration
MONDO:0015337	isolated craniosynostosis	oboInOwl:hasDbXref	Orphanet:139390	Non-syndromic craniosynostosis	semapv:ManualMappingCuration
MONDO:0015338	syndromic craniosynostosis	oboInOwl:hasDbXref	Orphanet:139393	Syndromic craniosynostosis	semapv:ManualMappingCuration
MONDO:0015339	adrenomyeloneuropathy	oboInOwl:hasDbXref	Orphanet:139399	Adrenomyeloneuropathy	semapv:ManualMappingCuration
MONDO:0015340	drug rash with eosinophilia and systemic symptoms	oboInOwl:hasDbXref	Orphanet:139402	Drug reaction with eosinophilia and systemic symptoms	semapv:ManualMappingCuration
MONDO:0015341	congenital panfollicular nevus	oboInOwl:hasDbXref	Orphanet:139414	Congenital panfollicular nevus	semapv:ManualMappingCuration
MONDO:0015342	acute transverse myelitis	oboInOwl:hasDbXref	Orphanet:139417	Acute transverse myelitis	semapv:ManualMappingCuration
MONDO:0015343	obsolete secondary acute transverse myelitis	oboInOwl:hasDbXref	Orphanet:139420	OBSOLETE: Secondary acute transverse myelitis	semapv:ManualMappingCuration
MONDO:0015344	idiopathic acute transverse myelitis	oboInOwl:hasDbXref	Orphanet:139423	Idiopathic acute transverse myelitis	semapv:ManualMappingCuration
MONDO:0015345	perioral myoclonia with absences	oboInOwl:hasDbXref	Orphanet:139426	Perioral myoclonia with absences	semapv:ManualMappingCuration
MONDO:0015346	epilepsy with eyelid myoclonia	oboInOwl:hasDbXref	Orphanet:139431	Epilepsy with eyelid myoclonia	semapv:ManualMappingCuration
MONDO:0015347	multicentric reticulohistiocytosis	oboInOwl:hasDbXref	Orphanet:139436	Multicentric reticulohistiocytosis	semapv:ManualMappingCuration
MONDO:0015348	leukoencephalopathy with bilateral anterior temporal lobe cysts	oboInOwl:hasDbXref	Orphanet:139444	Leukoencephalopathy with bilateral anterior temporal lobe cysts	semapv:ManualMappingCuration
MONDO:0015349	progressive cavitating leukoencephalopathy	oboInOwl:hasDbXref	Orphanet:139447	Progressive cavitating leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0015350	17q11.2 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:139474	17q11.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0015351	neuropathy with hearing impairment	oboInOwl:hasDbXref	Orphanet:139512	Neuropathy with hearing impairment	semapv:ManualMappingCuration
MONDO:0015352	distal hereditary motor neuropathy type 2	oboInOwl:hasDbXref	Orphanet:139525	Distal hereditary motor neuropathy type 2	semapv:ManualMappingCuration
MONDO:0015354	hereditary sensory and autonomic neuropathy with deafness and global delay	oboInOwl:hasDbXref	Orphanet:139573	Hereditary sensory and autonomic neuropathy with deafness and global delay	semapv:ManualMappingCuration
MONDO:0015355	distal hereditary motor neuropathy type 7	oboInOwl:hasDbXref	Orphanet:139589	Distal hereditary motor neuropathy type 7	semapv:ManualMappingCuration
MONDO:0015356	hereditary neoplastic syndrome	oboInOwl:hasDbXref	Orphanet:140162	Inherited cancer-predisposing syndrome	semapv:ManualMappingCuration
MONDO:0015357	secondary hypoparathyroidism due to impaired parathormon secretion	oboInOwl:hasDbXref	Orphanet:140286	Secondary hypoparathyroidism due to impaired parathormon secretion	semapv:ManualMappingCuration
MONDO:0015358	hereditary motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:140450	OBSOLETE: Hereditary motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0015359	obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:140453	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0015360	obsolete autosomal dominant hereditary axonal motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:140456	Autosomal dominant hereditary axonal motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0015361	obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:140459	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0015362	neuronopathy, distal hereditary motor, autosomal dominant	oboInOwl:hasDbXref	Orphanet:140465	Autosomal dominant distal hereditary motor neuropathy	semapv:ManualMappingCuration
MONDO:0015363	neuronopathy, distal hereditary motor, autosomal recessive	oboInOwl:hasDbXref	Orphanet:140468	Autosomal recessive distal hereditary motor neuropathy	semapv:ManualMappingCuration
MONDO:0015364	hereditary sensory and autonomic neuropathy	oboInOwl:hasDbXref	Orphanet:140471	Hereditary sensory and autonomic neuropathy	semapv:ManualMappingCuration
MONDO:0015365	obsolete autosomal dominant hereditary sensory and autonomic neuropathy	oboInOwl:hasDbXref	Orphanet:140474	Autosomal dominant hereditary sensory and autonomic neuropathy	semapv:ManualMappingCuration
MONDO:0015366	obsolete autosomal recessive hereditary sensory and autonomic neuropathy	oboInOwl:hasDbXref	Orphanet:140477	Autosomal recessive hereditary sensory and autonomic neuropathy	semapv:ManualMappingCuration
MONDO:0015367	Charlie M syndrome	oboInOwl:hasDbXref	Orphanet:1406	Charlie M syndrome	semapv:ManualMappingCuration
MONDO:0015368	obsolete neuro-ophthalmological disease	oboInOwl:hasDbXref	Orphanet:140653	Neuro-ophthalmological disease	semapv:ManualMappingCuration
MONDO:0015369	Joubert syndrome and related disorders	oboInOwl:hasDbXref	Orphanet:140874	Joubert syndrome and related disorders	semapv:ManualMappingCuration
MONDO:0015371	linear atrophoderma of Moulin	oboInOwl:hasDbXref	Orphanet:140933	Linear atrophoderma of Moulin	semapv:ManualMappingCuration
MONDO:0015372	autosomal dominant macrothrombocytopenia	oboInOwl:hasDbXref	Orphanet:140957	Autosomal dominant macrothrombocytopenia	semapv:ManualMappingCuration
MONDO:0015374	primary central nervous system vasculitis	oboInOwl:hasDbXref	Orphanet:140989	Primary angiitis of the central nervous system	semapv:ManualMappingCuration
MONDO:0015375	orofaciodigital syndrome	oboInOwl:hasDbXref	Orphanet:140997	Orofaciodigital syndrome	semapv:ManualMappingCuration
MONDO:0015376	first branchial cleft anomaly	oboInOwl:hasDbXref	Orphanet:141013	First branchial cleft anomaly	semapv:ManualMappingCuration
MONDO:0015377	third branchial cleft anomaly	oboInOwl:hasDbXref	Orphanet:141030	Third branchial cleft anomaly	semapv:ManualMappingCuration
MONDO:0015378	fourth branchial cleft anomaly	oboInOwl:hasDbXref	Orphanet:141037	Fourth branchial cleft anomaly	semapv:ManualMappingCuration
MONDO:0015379	cervical dermoid cyst	oboInOwl:hasDbXref	Orphanet:141046	Cervical dermoid cyst	semapv:ManualMappingCuration
MONDO:0015380	facial dermoid cyst	oboInOwl:hasDbXref	Orphanet:141051	Facial dermoid cyst	semapv:ManualMappingCuration
MONDO:0015381	commissural lip fistula	oboInOwl:hasDbXref	Orphanet:141061	Commissural lip fistula	semapv:ManualMappingCuration
MONDO:0015382	lower lip fistula	oboInOwl:hasDbXref	Orphanet:141064	Isolated lower lip fistula	semapv:ManualMappingCuration
MONDO:0015383	cervicofacial fibrochondroma	oboInOwl:hasDbXref	Orphanet:141067	Cervicofacial fibrochondroma	semapv:ManualMappingCuration
MONDO:0015384	digestive duplication cyst of the tongue	oboInOwl:hasDbXref	Orphanet:141071	Digestive duplication cyst of the tongue	semapv:ManualMappingCuration
MONDO:0015385	obsolete external auditory canal aplasia/hypoplasia	oboInOwl:hasDbXref	Orphanet:141074	External auditory canal aplasia/hypoplasia	semapv:ManualMappingCuration
MONDO:0015386	epignathus	oboInOwl:hasDbXref	Orphanet:141077	Epignathus	semapv:ManualMappingCuration
MONDO:0015387	nasolacrimal duct cyst	oboInOwl:hasDbXref	Orphanet:141083	Nasolacrimal duct cyst	semapv:ManualMappingCuration
MONDO:0015388	polyrrhinia	oboInOwl:hasDbXref	Orphanet:141091	Polyrrhinia	semapv:ManualMappingCuration
MONDO:0015389	supernumerary nostril	oboInOwl:hasDbXref	Orphanet:141096	Supernumerary nostril	semapv:ManualMappingCuration
MONDO:0015390	proboscis lateralis	oboInOwl:hasDbXref	Orphanet:141099	Proboscis lateralis	semapv:ManualMappingCuration
MONDO:0015391	nasopharyngeal teratoma	oboInOwl:hasDbXref	Orphanet:141107	Nasopharyngeal teratoma	semapv:ManualMappingCuration
MONDO:0015392	nasal glial heterotopia	oboInOwl:hasDbXref	Orphanet:141112	Nasal glial heterotopia	semapv:ManualMappingCuration
MONDO:0015393	nasal ganglioglioma	oboInOwl:hasDbXref	Orphanet:141115	Nasal ganglioglioma	semapv:ManualMappingCuration
MONDO:0015394	nasal encephalocele	oboInOwl:hasDbXref	Orphanet:141118	Nasal encephalocele	semapv:ManualMappingCuration
MONDO:0015395	congenital subglottic stenosis	oboInOwl:hasDbXref	Orphanet:141121	Congenital subglottic stenosis	semapv:ManualMappingCuration
MONDO:0015396	congenital laryngeal cyst	oboInOwl:hasDbXref	Orphanet:141124	Congenital laryngeal cyst	semapv:ManualMappingCuration
MONDO:0015397	craniofacial microsomia	oboInOwl:hasDbXref	Orphanet:141132	Oculo-auriculo-vertebral spectrum	semapv:ManualMappingCuration
MONDO:0015397	craniofacial microsomia	oboInOwl:hasDbXref	Orphanet:141136	Otomandibular syndrome	semapv:ManualMappingCuration
MONDO:0015397	craniofacial microsomia	oboInOwl:hasDbXref	Orphanet:374	Goldenhar syndrome	semapv:ManualMappingCuration
MONDO:0015399	glossopalatine ankylosis	oboInOwl:hasDbXref	Orphanet:141163	Glossopalatine ankylosis	semapv:ManualMappingCuration
MONDO:0015400	frontonasal arteriovenous malformation	oboInOwl:hasDbXref	Orphanet:141168	Frontonasal arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0015401	maxillary arteriovenous malformation	oboInOwl:hasDbXref	Orphanet:141171	Maxillary arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0015402	mandibular arteriovenous malformation	oboInOwl:hasDbXref	Orphanet:141174	Mandibular arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0015403	non-involuting congenital hemangioma	oboInOwl:hasDbXref	Orphanet:141179	Non-involuting congenital hemangioma	semapv:ManualMappingCuration
MONDO:0015404	rapidly involuting congenital hemangioma	oboInOwl:hasDbXref	Orphanet:141184	Rapidly involuting congenital hemangioma	semapv:ManualMappingCuration
MONDO:0015405	cerebrofacial arteriovenous metameric syndrome	oboInOwl:hasDbXref	Orphanet:141189	Cerebrofacial arteriovenous metameric syndrome	semapv:ManualMappingCuration
MONDO:0015406	cerebrofacial arteriovenous metameric syndrome type 1	oboInOwl:hasDbXref	Orphanet:141194	Cerebrofacial arteriovenous metameric syndrome type 1	semapv:ManualMappingCuration
MONDO:0015407	cerebrofacial arteriovenous metameric syndrome type 3	oboInOwl:hasDbXref	Orphanet:141199	Cerebrofacial arteriovenous metameric syndrome type 3	semapv:ManualMappingCuration
MONDO:0015408	diffuse lymphatic malformation	oboInOwl:hasDbXref	Orphanet:141209	Diffuse lymphatic malformation	semapv:ManualMappingCuration
MONDO:0015409	isolated congenital syngnathia	oboInOwl:hasDbXref	Orphanet:141214	Isolated congenital syngnathia	semapv:ManualMappingCuration
MONDO:0015410	nasal dorsum fistula/cyst	oboInOwl:hasDbXref	Orphanet:141219	Nasal dorsum fistula	semapv:ManualMappingCuration
MONDO:0015411	facial cleft	oboInOwl:hasDbXref	Orphanet:141229	Facial cleft	semapv:ManualMappingCuration
MONDO:0015412	obsolete median facial cleft	oboInOwl:hasDbXref	Orphanet:141234	Median facial cleft	semapv:ManualMappingCuration
MONDO:0015413	median cleft of the upper lip and maxilla	oboInOwl:hasDbXref	Orphanet:141239	Median cleft of the upper lip and maxilla	semapv:ManualMappingCuration
MONDO:0015414	paramedian nasal cleft	oboInOwl:hasDbXref	Orphanet:141242	Paramedian nasal cleft	semapv:ManualMappingCuration
MONDO:0015415	obsolete oblique facial cleft	oboInOwl:hasDbXref	Orphanet:141253	Oblique facial cleft	semapv:ManualMappingCuration
MONDO:0015416	Tessier number 5 facial cleft	oboInOwl:hasDbXref	Orphanet:141261	Tessier number 5 facial cleft	semapv:ManualMappingCuration
MONDO:0015417	Tessier number 6 facial cleft	oboInOwl:hasDbXref	Orphanet:141265	Tessier number 6 facial cleft	semapv:ManualMappingCuration
MONDO:0015418	obsolete lateral facial cleft	oboInOwl:hasDbXref	Orphanet:141269	Lateral facial cleft	semapv:ManualMappingCuration
MONDO:0015419	midline cervical cleft	oboInOwl:hasDbXref	Orphanet:141288	Midline cervical cleft	semapv:ManualMappingCuration
MONDO:0015420	cleft lip and alveolus	oboInOwl:hasDbXref	Orphanet:141291	Cleft lip and alveolus	semapv:ManualMappingCuration
MONDO:0015421	orofaciodigital syndrome type 12	oboInOwl:hasDbXref	Orphanet:141327	OBSOLETE: Orofaciodigital syndrome type 12	semapv:ManualMappingCuration
MONDO:0015422	obsolete orofaciodigital syndrome type 13	oboInOwl:hasDbXref	Orphanet:141330	OBSOLETE: Orofaciodigital syndrome type 13	semapv:ManualMappingCuration
MONDO:0015424	obsolete lethal chondrodysplasia, Moerman type	oboInOwl:hasDbXref	Orphanet:1420	OBSOLETE: Lethal chondrodysplasia, Moerman type	semapv:ManualMappingCuration
MONDO:0015425	lethal recessive chondrodysplasia	oboInOwl:hasDbXref	Orphanet:1423	Lethal recessive chondrodysplasia	semapv:ManualMappingCuration
MONDO:0015426	Desbuquois dysplasia	oboInOwl:hasDbXref	Orphanet:1425	Desbuquois syndrome	semapv:ManualMappingCuration
MONDO:0015427	paroxysmal dyskinesia	oboInOwl:hasDbXref	Orphanet:1431	Paroxysmal dyskinesia	semapv:ManualMappingCuration
MONDO:0015428	choroidal atrophy-alopecia syndrome	oboInOwl:hasDbXref	Orphanet:1433	Choroidal atrophy-alopecia syndrome	semapv:ManualMappingCuration
MONDO:0015430	ring chromosome 1	oboInOwl:hasDbXref	Orphanet:1437	Ring chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0015431	ring chromosome 10	oboInOwl:hasDbXref	Orphanet:1438	Ring chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0015432	ring chromosome 12	oboInOwl:hasDbXref	Orphanet:1439	Ring chromosome 12 syndrome	semapv:ManualMappingCuration
MONDO:0015433	ring chromosome 17	oboInOwl:hasDbXref	Orphanet:1441	Ring chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0015434	ring chromosome 18	oboInOwl:hasDbXref	Orphanet:1442	Ring chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0015435	ring chromosome 19	oboInOwl:hasDbXref	Orphanet:1443	Ring chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0015436	ring chromosome 20	oboInOwl:hasDbXref	Orphanet:1444	Ring chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0015437	ring chromosome 21	oboInOwl:hasDbXref	Orphanet:1445	Ring chromosome 21 syndrome	semapv:ManualMappingCuration
MONDO:0015438	ring chromosome 22	oboInOwl:hasDbXref	Orphanet:1446	Ring chromosome 22 syndrome	semapv:ManualMappingCuration
MONDO:0015439	ring chromosome 4	oboInOwl:hasDbXref	Orphanet:1447	Ring chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0015440	ring chromosome 6	oboInOwl:hasDbXref	Orphanet:1448	Ring chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0015441	ring chromosome 7	oboInOwl:hasDbXref	Orphanet:1449	Ring chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0015443	chromosome 8-derived supernumerary ring/marker	oboInOwl:hasDbXref	Orphanet:1450	Ring chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0015445	autosomal dominant coarctation of aorta	oboInOwl:hasDbXref	Orphanet:1455	OBSOLETE: Autosomal dominant coarctation of aorta	semapv:ManualMappingCuration
MONDO:0015446	atypical coarctation of aorta	oboInOwl:hasDbXref	Orphanet:1456	Middle aortic syndrome	semapv:ManualMappingCuration
MONDO:0015447	differentiated thyroid carcinoma	oboInOwl:hasDbXref	Orphanet:146	Differentiated thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0015448	mitochondrial complex III deficiency	oboInOwl:hasDbXref	Orphanet:1460	Isolated complex III deficiency	semapv:ManualMappingCuration
MONDO:0015449	criss-cross heart	oboInOwl:hasDbXref	Orphanet:1461	Criss-cross heart	semapv:ManualMappingCuration
MONDO:0015450	triatrial heart	oboInOwl:hasDbXref	Orphanet:1463	Triatrial heart	semapv:ManualMappingCuration
MONDO:0015451	univentricular heart	oboInOwl:hasDbXref	Orphanet:1464	Univentricular heart	semapv:ManualMappingCuration
MONDO:0015452	Coffin-Siris syndrome	oboInOwl:hasDbXref	Orphanet:1465	Coffin-Siris syndrome	semapv:ManualMappingCuration
MONDO:0015453	Cogan syndrome	oboInOwl:hasDbXref	Orphanet:1467	Cogan syndrome	semapv:ManualMappingCuration
MONDO:0015454	multiple carboxylase deficiency	oboInOwl:hasDbXref	Orphanet:148	Multiple carboxylase deficiency	semapv:ManualMappingCuration
MONDO:0015455	gonococcal conjunctivitis	oboInOwl:hasDbXref	Orphanet:1482	Gonococcal conjunctivitis	semapv:ManualMappingCuration
MONDO:0015457	corpus callosum agenesis-double urinary collecting system syndrome	oboInOwl:hasDbXref	Orphanet:1492	OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome	semapv:ManualMappingCuration
MONDO:0015458	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	oboInOwl:hasDbXref	Orphanet:1495	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	semapv:ManualMappingCuration
MONDO:0015459	nasopharyngeal carcinoma	oboInOwl:hasDbXref	Orphanet:150	Nasopharyngeal carcinoma	semapv:ManualMappingCuration
MONDO:0015461	short rib-polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:1505	Short rib-polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0015462	thin ribs-tubular bones-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:1506	Thin ribs-tubular bones-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0015463	craniodigital syndrome-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1514	Craniodigital-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0015464	craniofrontonasal dysplasia-Poland anomaly syndrome	oboInOwl:hasDbXref	Orphanet:1521	Craniofrontonasal dysplasia-Poland anomaly syndrome	semapv:ManualMappingCuration
MONDO:0015465	craniometaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:1522	Craniometaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0015466	cranio-osteoarthropathy	oboInOwl:hasDbXref	Orphanet:1525	Cranio-osteoarthropathy	semapv:ManualMappingCuration
MONDO:0015467	craniosynostosis, Philadelphia type	oboInOwl:hasDbXref	Orphanet:1527	Craniosynostosis, Philadelphia type	semapv:ManualMappingCuration
MONDO:0015468	craniosynostosis-cataract syndrome	oboInOwl:hasDbXref	Orphanet:1530	OBSOLETE: Craniosynostosis-cataract syndrome	semapv:ManualMappingCuration
MONDO:0015469	craniosynostosis	oboInOwl:hasDbXref	Orphanet:1531	Craniosynostosis	semapv:ManualMappingCuration
MONDO:0015471	benign focal seizures of adolescence	oboInOwl:hasDbXref	Orphanet:1544	Benign focal seizures of adolescence	semapv:ManualMappingCuration
MONDO:0015473	cryptorchidism-arachnodactyly-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1548	Cryptorchidism-arachnodactyly-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0015474	cryptosporidiosis	oboInOwl:hasDbXref	Orphanet:1549	NON RARE IN EUROPE: Cryptosporidiosis	semapv:ManualMappingCuration
MONDO:0015475	obsolete rare head and neck malformation	oboInOwl:hasDbXref	Orphanet:155832	Rare head and neck malformation	semapv:ManualMappingCuration
MONDO:0015476	cysts and fistulae of the face and oral cavity	oboInOwl:hasDbXref	Orphanet:155835	Cysts and fistulae of the face and oral cavity	semapv:ManualMappingCuration
MONDO:0015477	pinnae fistula or cyst	oboInOwl:hasDbXref	Orphanet:155838	Pinnae fistula or cyst	semapv:ManualMappingCuration
MONDO:0015478	obsolete paramedian facial cleft	oboInOwl:hasDbXref	Orphanet:155867	Paramedian facial cleft	semapv:ManualMappingCuration
MONDO:0015479	submucosal cleft palate	oboInOwl:hasDbXref	Orphanet:155878	Submucosal cleft palate	semapv:ManualMappingCuration
MONDO:0015480	coloboma of superior eyelid	oboInOwl:hasDbXref	Orphanet:155884	Coloboma of superior eyelid	semapv:ManualMappingCuration
MONDO:0015481	coloboma of inferior eyelid	oboInOwl:hasDbXref	Orphanet:155889	Coloboma of inferior eyelid	semapv:ManualMappingCuration
MONDO:0015482	obsolete otomandibular dysplasia	oboInOwl:hasDbXref	Orphanet:155896	Otomandibular dysplasia	semapv:ManualMappingCuration
MONDO:0015483	mandibulofacial dysostosis	oboInOwl:hasDbXref	Orphanet:155899	Mandibulofacial dysostosis	semapv:ManualMappingCuration
MONDO:0015484	cysticercosis	oboInOwl:hasDbXref	Orphanet:1560	Cysticercosis	semapv:ManualMappingCuration
MONDO:0015485	obsolete primary hereditary glaucoma	oboInOwl:hasDbXref	Orphanet:156005	Primary early-onset glaucoma	semapv:ManualMappingCuration
MONDO:0015486	keratoconus	oboInOwl:hasDbXref	Orphanet:156071	OBSOLETE: Keratoconus	semapv:ManualMappingCuration
MONDO:0015486	keratoconus	oboInOwl:hasDbXref	Orphanet:2335	NON RARE IN EUROPE: Isolated keratoconus	semapv:ManualMappingCuration
MONDO:0015487	fatal infantile encephalocardiomyopathy	oboInOwl:hasDbXref	Orphanet:1561	Fatal infantile cytochrome C oxidase deficiency	semapv:ManualMappingCuration
MONDO:0015488	obsolete predominantly large-vessel vasculitis	oboInOwl:hasDbXref	Orphanet:156140	Predominantly large-vessel vasculitis	semapv:ManualMappingCuration
MONDO:0015489	obsolete predominantly medium-vessel vasculitis	oboInOwl:hasDbXref	Orphanet:156143	Predominantly medium-vessel vasculitis	semapv:ManualMappingCuration
MONDO:0015490	obsolete predominantly small-vessel vasculitis	oboInOwl:hasDbXref	Orphanet:156146	Predominantly small-vessel vasculitis	semapv:ManualMappingCuration
MONDO:0015491	immune complex mediated vasculitis	oboInOwl:hasDbXref	Orphanet:156149	Immune complex mediated vasculitis	semapv:ManualMappingCuration
MONDO:0015492	anti-neutrophil cytoplasmic antibody-associated vasculitis	oboInOwl:hasDbXref	Orphanet:156152	Anti-neutrophil cytoplasmic antibody-associated vasculitis	semapv:ManualMappingCuration
MONDO:0015493	lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:156156	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0015494	isolated dystonia	oboInOwl:hasDbXref	Orphanet:156159	Isolated dystonia	semapv:ManualMappingCuration
MONDO:0015495	obsolete otomandibular dysplasia associated with monogenic syndromes	oboInOwl:hasDbXref	Orphanet:156202	Otomandibular dysplasia associated with monogenic syndromes	semapv:ManualMappingCuration
MONDO:0015496	macroglossia	oboInOwl:hasDbXref	Orphanet:156207	Macroglossia	semapv:ManualMappingCuration
MONDO:0015497	obsolete hypoglossia/aglossia	oboInOwl:hasDbXref	Orphanet:156212	Hypoglossia/aglossia	semapv:ManualMappingCuration
MONDO:0015498	oromandibular-limb anomalies syndrome	oboInOwl:hasDbXref	Orphanet:156215	Oromandibular-limb anomalies syndrome	semapv:ManualMappingCuration
MONDO:0015499	obsolete paralytic facial malformation	oboInOwl:hasDbXref	Orphanet:156224	Paralytic facial malformation	semapv:ManualMappingCuration
MONDO:0015500	facial arteriovenous malformation	oboInOwl:hasDbXref	Orphanet:156230	Facial arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0015501	obsolete syndrome or malformation associated with head and neck malformations	oboInOwl:hasDbXref	Orphanet:156237	Syndrome or malformation associated with head and neck malformations	semapv:ManualMappingCuration
MONDO:0015502	obsolete pinnae and external auditory canal anomaly	oboInOwl:hasDbXref	Orphanet:156243	Pinnae and external auditory canal anomaly	semapv:ManualMappingCuration
MONDO:0015503	obsolete nose and cavum anomaly	oboInOwl:hasDbXref	Orphanet:156246	Nose and cavum anomaly	semapv:ManualMappingCuration
MONDO:0015504	obsolete larynx anomaly	oboInOwl:hasDbXref	Orphanet:156249	Larynx anomaly	semapv:ManualMappingCuration
MONDO:0015505	obsolete tracheal anomaly	oboInOwl:hasDbXref	Orphanet:156252	Tracheal anomaly	semapv:ManualMappingCuration
MONDO:0015506	obsolete rare syndrome with cardiac malformations	oboInOwl:hasDbXref	Orphanet:156532	Rare syndrome with cardiac malformations	semapv:ManualMappingCuration
MONDO:0015507	obsolete rare genetic hepatic disease	oboInOwl:hasDbXref	Orphanet:156601	Rare genetic hepatic disease	semapv:ManualMappingCuration
MONDO:0015508	obsolete hereditary parenchymatous liver disease	oboInOwl:hasDbXref	Orphanet:156604	Genetic parenchymatous liver disease	semapv:ManualMappingCuration
MONDO:0015509	obsolete hereditary biliary tract disease	oboInOwl:hasDbXref	Orphanet:156607	Genetic biliary tract disease	semapv:ManualMappingCuration
MONDO:0015510	obsolete rare genetic respiratory disease	oboInOwl:hasDbXref	Orphanet:156610	Rare genetic respiratory disease	semapv:ManualMappingCuration
MONDO:0015511	obsolete rare genetic urogenital disease	oboInOwl:hasDbXref	Orphanet:156619	Rare genetic urogenital disease	semapv:ManualMappingCuration
MONDO:0015512	obsolete genetic hypertension	oboInOwl:hasDbXref	Orphanet:156629	Rare genetic cause of hypertension	semapv:ManualMappingCuration
MONDO:0015513	obsolete rare genetic endocrine disease	oboInOwl:hasDbXref	Orphanet:156638	Rare genetic endocrine disease	semapv:ManualMappingCuration
MONDO:0015514	hereditary endocrine growth disease	oboInOwl:hasDbXref	Orphanet:156643	Genetic endocrine growth disease	semapv:ManualMappingCuration
MONDO:0015515	carnitine palmitoyltransferase II deficiency	oboInOwl:hasDbXref	Orphanet:157	Carnitine palmitoyltransferase II deficiency	semapv:ManualMappingCuration
MONDO:0015516	symbrachydactyly of hands and feet	oboInOwl:hasDbXref	Orphanet:1570	Symbrachydactyly of hands and feet	semapv:ManualMappingCuration
MONDO:0015517	common variable immunodeficiency	oboInOwl:hasDbXref	Orphanet:1572	Common variable immunodeficiency	semapv:ManualMappingCuration
MONDO:0015518	infantile bilateral striatal necrosis	oboInOwl:hasDbXref	Orphanet:1576	Infantile bilateral striatal necrosis	semapv:ManualMappingCuration
MONDO:0015519	congenital or early infantile CACH syndrome	oboInOwl:hasDbXref	Orphanet:157713	Congenital or early infantile CACH syndrome	semapv:ManualMappingCuration
MONDO:0015520	late infantile CACH syndrome	oboInOwl:hasDbXref	Orphanet:157716	Late infantile CACH syndrome	semapv:ManualMappingCuration
MONDO:0015521	juvenile or adult CACH syndrome	oboInOwl:hasDbXref	Orphanet:157719	Juvenile or adult CACH syndrome	semapv:ManualMappingCuration
MONDO:0015523	epithelioid hemangioendothelioma	oboInOwl:hasDbXref	Orphanet:157791	Epithelioid hemangioendothelioma	semapv:ManualMappingCuration
MONDO:0015524	hyperplastic polyposis syndrome	oboInOwl:hasDbXref	Orphanet:157798	Serrated polyposis syndrome	semapv:ManualMappingCuration
MONDO:0015525	congenital pseudoarthrosis of the limbs	oboInOwl:hasDbXref	Orphanet:157808	Isolated pseudoarthrosis of the limbs	semapv:ManualMappingCuration
MONDO:0015526	cold-induced sweating syndrome	oboInOwl:hasDbXref	Orphanet:157820	Cold-induced sweating syndrome	semapv:ManualMappingCuration
MONDO:0015528	congenital epulis	oboInOwl:hasDbXref	Orphanet:157826	Congenital epulis	semapv:ManualMappingCuration
MONDO:0015529	paroxysmal Hemicrania	oboInOwl:hasDbXref	Orphanet:157835	Paroxysmal hemicrania	semapv:ManualMappingCuration
MONDO:0015530	trigeminal autonomic cephalalgia	oboInOwl:hasDbXref	Orphanet:157843	Trigeminal autonomic cephalalgia	semapv:ManualMappingCuration
MONDO:0015531	non-Langerhans cell histiocytosis	oboInOwl:hasDbXref	Orphanet:157987	Non-Langerhans cell histiocytosis	semapv:ManualMappingCuration
MONDO:0015532	generalized eruptive histiocytosis	oboInOwl:hasDbXref	Orphanet:157991	Generalized eruptive histiocytosis	semapv:ManualMappingCuration
MONDO:0015533	benign cephalic histiocytosis	oboInOwl:hasDbXref	Orphanet:157997	Benign cephalic histiocytosis	semapv:ManualMappingCuration
MONDO:0015534	juvenile xanthogranuloma	oboInOwl:hasDbXref	Orphanet:158000	Juvenile xanthogranuloma	semapv:ManualMappingCuration
MONDO:0015535	xanthoma disseminatum	oboInOwl:hasDbXref	Orphanet:158003	Xanthoma disseminatum	semapv:ManualMappingCuration
MONDO:0015536	papular xanthoma	oboInOwl:hasDbXref	Orphanet:158008	Papular xanthoma	semapv:ManualMappingCuration
MONDO:0015537	necrobiotic xanthogranuloma	oboInOwl:hasDbXref	Orphanet:158011	Necrobiotic xanthogranuloma	semapv:ManualMappingCuration
MONDO:0015538	indeterminate dendritic cell tumor	oboInOwl:hasDbXref	Orphanet:158019	Indeterminate cell histiocytosis	semapv:ManualMappingCuration
MONDO:0015539	progressive nodular histiocytosis	oboInOwl:hasDbXref	Orphanet:158022	Progressive nodular histiocytosis	semapv:ManualMappingCuration
MONDO:0015540	hemophagocytic syndrome	oboInOwl:hasDbXref	Orphanet:158032	Hemophagocytic syndrome	semapv:ManualMappingCuration
MONDO:0015541	hereditary hemophagocytic lymphohistiocytosis	oboInOwl:hasDbXref	Orphanet:540	Familial hemophagocytic lymphohistiocytosis	semapv:ManualMappingCuration
MONDO:0015542	secondary hemophagocytic lymphohistiocytosis	oboInOwl:hasDbXref	Orphanet:158041	Secondary hemophagocytic lymphohistiocytosis	semapv:ManualMappingCuration
MONDO:0015544	acquired hemophagocytic lymphohistiocytosis associated with malignant disease	oboInOwl:hasDbXref	Orphanet:158057	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease	semapv:ManualMappingCuration
MONDO:0015545	macrophage activation syndrome	oboInOwl:hasDbXref	Orphanet:158061	Macrophage activation syndrome	semapv:ManualMappingCuration
MONDO:0015546	non-distal monosomy 10q	oboInOwl:hasDbXref	Orphanet:1581	Non-distal deletion 10q syndrome	semapv:ManualMappingCuration
MONDO:0015547	hereditary dementia	oboInOwl:hasDbXref	Orphanet:158124	Genetic dementia	semapv:ManualMappingCuration
MONDO:0015548	Huntington disease-like syndrome	oboInOwl:hasDbXref	Orphanet:158266	Huntington disease-like syndrome	semapv:ManualMappingCuration
MONDO:0015549	obsolete rare genetic hematologic disease	oboInOwl:hasDbXref	Orphanet:158300	Rare genetic hematologic disease	semapv:ManualMappingCuration
MONDO:0015550	suprabasal epidermolysis bullosa simplex	oboInOwl:hasDbXref	Orphanet:158661	OBSOLETE: Suprabasal epidermolysis bullosa simplex	semapv:ManualMappingCuration
MONDO:0015551	obsolete basal epidermolysis bullosa simplex	oboInOwl:hasDbXref	Orphanet:158665	OBSOLETE: Basal epidermolysis bullosa simplex	semapv:ManualMappingCuration
MONDO:0015552	acral dystrophic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:158673	Localized dystrophic epidermolysis bullosa, acral form	semapv:ManualMappingCuration
MONDO:0015553	dystrophic epidermolysis bullosa, nails only	oboInOwl:hasDbXref	Orphanet:158676	Localized dystrophic epidermolysis bullosa, nails only	semapv:ManualMappingCuration
MONDO:0015554	typical urticaria pigmentosa	oboInOwl:hasDbXref	Orphanet:158766	Typical urticaria pigmentosa	semapv:ManualMappingCuration
MONDO:0015555	plaque-form urticaria pigmentosa	oboInOwl:hasDbXref	Orphanet:158769	Plaque-form urticaria pigmentosa	semapv:ManualMappingCuration
MONDO:0015556	nodular urticaria pigmentosa	oboInOwl:hasDbXref	Orphanet:158772	Nodular urticaria pigmentosa	semapv:ManualMappingCuration
MONDO:0015557	Smouldering systemic mastocytosis	oboInOwl:hasDbXref	Orphanet:158775	Smoldering systemic mastocytosis	semapv:ManualMappingCuration
MONDO:0015558	isolated bone marrow mastocytosis	oboInOwl:hasDbXref	Orphanet:158778	Isolated bone marrow mastocytosis	semapv:ManualMappingCuration
MONDO:0015559	lymphoadenopathic mastocytosis with eosinophilia	oboInOwl:hasDbXref	Orphanet:158793	OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia	semapv:ManualMappingCuration
MONDO:0015560	obsolete classic mast cell leukemia	oboInOwl:hasDbXref	Orphanet:158796	OBSOLETE: Classic mast cell leukemia	semapv:ManualMappingCuration
MONDO:0015562	distal monosomy 17q	oboInOwl:hasDbXref	Orphanet:1597	Distal deletion 17q syndrome	semapv:ManualMappingCuration
MONDO:0015564	Castleman disease	oboInOwl:hasDbXref	Orphanet:160	Castleman disease	semapv:ManualMappingCuration
MONDO:0015565	cap polyposis	oboInOwl:hasDbXref	Orphanet:160148	Cap polyposis	semapv:ManualMappingCuration
MONDO:0015566	2q24 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:1617	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion	semapv:ManualMappingCuration
MONDO:0015567	cataract-glaucoma syndrome	oboInOwl:hasDbXref	Orphanet:162	Congenital cataract-anterior segment dysgenesis syndrome	semapv:ManualMappingCuration
MONDO:0015568	isolated congenital nasal pyriform aperture stenosis	oboInOwl:hasDbXref	Orphanet:162516	Isolated congenital nasal pyriform aperture stenosis	semapv:ManualMappingCuration
MONDO:0015569	congenital nasal pyriform aperture stenosis with holoprosencephaly	oboInOwl:hasDbXref	Orphanet:162521	OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly	semapv:ManualMappingCuration
MONDO:0015570	isolated congenital auditory ossicle malformation	oboInOwl:hasDbXref	Orphanet:162526	Isolated congenital auditory ossicle malformation	semapv:ManualMappingCuration
MONDO:0015571	deletion 5q35	oboInOwl:hasDbXref	Orphanet:1627	Deletion 5q35 syndrome	semapv:ManualMappingCuration
MONDO:0015572	obsolete cerebral malformation due to abnormal neuronal migration	oboInOwl:hasDbXref	Orphanet:163209	Non-syndromic cerebral malformation due to abnormal neuronal migration	semapv:ManualMappingCuration
MONDO:0015573	subacute cutaneous lupus erythematosus	oboInOwl:hasDbXref	Orphanet:163525	Subacute cutaneous lupus erythematosus	semapv:ManualMappingCuration
MONDO:0015574	chronic cutaneous lupus erythematosus	oboInOwl:hasDbXref	Orphanet:163531	Chronic cutaneous lupus erythematosus	semapv:ManualMappingCuration
MONDO:0015575	obsolete rare bacterial infectious disease	oboInOwl:hasDbXref	Orphanet:163582	Rare bacterial infectious disease	semapv:ManualMappingCuration
MONDO:0015576	obsolete rare viral disease	oboInOwl:hasDbXref	Orphanet:163585	Rare viral disease	semapv:ManualMappingCuration
MONDO:0015577	obsolete rare parasitic disease	oboInOwl:hasDbXref	Orphanet:163588	Rare parasitic disease	semapv:ManualMappingCuration
MONDO:0015578	obsolete rare mycosis	oboInOwl:hasDbXref	Orphanet:163591	Rare mycosis	semapv:ManualMappingCuration
MONDO:0015579	Hb Bart's hydrops fetalis	oboInOwl:hasDbXref	Orphanet:163596	Hb Bart's hydrops fetalis	semapv:ManualMappingCuration
MONDO:0015580	distal monosomy 7q36	oboInOwl:hasDbXref	Orphanet:1636	Distal monosomy 7q36 syndrome	semapv:ManualMappingCuration
MONDO:0015581	obsolete bile acid synthesis defect with cholestasis and malabsorption	oboInOwl:hasDbXref	Orphanet:163631	Bile acid synthesis defect with cholestasis and malabsorption	semapv:ManualMappingCuration
MONDO:0015582	obsolete rare disorder related with pregnancy, childbirth and puerperium	oboInOwl:hasDbXref	Orphanet:163637	Rare disorder related with pregnancy, childbirth and puerperium	semapv:ManualMappingCuration
MONDO:0015583	2p21 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:163693	2p21 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0015584	febrile infection-related epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:163703	Febrile infection-related epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0015585	cryptogenic late-onset epileptic spasms	oboInOwl:hasDbXref	Orphanet:163708	Cryptogenic late-onset epileptic spasms	semapv:ManualMappingCuration
MONDO:0015586	obsolete benign familial mesial temporal lobe epilepsy	oboInOwl:hasDbXref	Orphanet:163717	Benign familial mesial temporal lobe epilepsy	semapv:ManualMappingCuration
MONDO:0015587	rolandic epilepsy-speech dyspraxia syndrome	oboInOwl:hasDbXref	Orphanet:163721	Rolandic epilepsy-speech dyspraxia syndrome	semapv:ManualMappingCuration
MONDO:0015588	limbic encephalitis	oboInOwl:hasDbXref	Orphanet:163892	OBSOLETE: Limbic encephalitis	semapv:ManualMappingCuration
MONDO:0015589	paraneoplastic limbic encephalitis	oboInOwl:hasDbXref	Orphanet:163895	OBSOLETE: Paraneoplastic limbic encephalitis	semapv:ManualMappingCuration
MONDO:0015590	classic paraneoplastic limbic encephalitis	oboInOwl:hasDbXref	Orphanet:163898	OBSOLETE: Classic paraneoplastic limbic encephalitis	semapv:ManualMappingCuration
MONDO:0015591	obsolete limbic encephalitis associated with antibodies to cell membrane antigens	oboInOwl:hasDbXref	Orphanet:163903	OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens	semapv:ManualMappingCuration
MONDO:0015592	limbic encephalitis with LGI1 antibodies	oboInOwl:hasDbXref	Orphanet:163908	OBSOLETE: Limbic encephalitis with LGI1 antibodies	semapv:ManualMappingCuration
MONDO:0015593	obsolete limbic encephalitis with nCMAgs antibodies	oboInOwl:hasDbXref	Orphanet:163914	OBSOLETE: Limbic encephalitis with nCMAgs antibodies	semapv:ManualMappingCuration
MONDO:0015594	obsolete non-paraneoplastic limbic encephalitis	oboInOwl:hasDbXref	Orphanet:163918	OBSOLETE: Non-paraneoplastic limbic encephalitis	semapv:ManualMappingCuration
MONDO:0015595	posttransplant acute limbic encephalitis	oboInOwl:hasDbXref	Orphanet:163921	Posttransplant acute limbic encephalitis	semapv:ManualMappingCuration
MONDO:0015596	non-herpetic acute limbic encephalitis	oboInOwl:hasDbXref	Orphanet:163924	OBSOLETE: Non-herpetic acute limbic encephalitis	semapv:ManualMappingCuration
MONDO:0015597	pustulosis palmaris et plantaris	oboInOwl:hasDbXref	Orphanet:163927	Pustulosis palmaris et plantaris	semapv:ManualMappingCuration
MONDO:0015599	atopic keratoconjunctivitis	oboInOwl:hasDbXref	Orphanet:163934	Atopic keratoconjunctivitis	semapv:ManualMappingCuration
MONDO:0015600	X-linked intellectual disability, Cilliers type	oboInOwl:hasDbXref	Orphanet:163971	X-linked intellectual disability, Cilliers type	semapv:ManualMappingCuration
MONDO:0015601	X-linked intellectual disability, van Esch type	oboInOwl:hasDbXref	Orphanet:163976	X-linked intellectual disability, Van Esch type	semapv:ManualMappingCuration
MONDO:0015602	obsolete developmental delay-deafness syndrome, Hildebrand type	oboInOwl:hasDbXref	Orphanet:163988	OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type	semapv:ManualMappingCuration
MONDO:0015603	obsolete rare odontal or periodontal disorder	oboInOwl:hasDbXref	Orphanet:164001	Rare odontal or periodontal disorder	semapv:ManualMappingCuration
MONDO:0015604	middle ear anomaly	oboInOwl:hasDbXref	Orphanet:164004	Middle and/or inner ear anomaly	semapv:ManualMappingCuration
MONDO:0015605	distal monosomy 9p	oboInOwl:hasDbXref	Orphanet:1642	Distal deletion 9p syndrome	semapv:ManualMappingCuration
MONDO:0015606	Xp22.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:1643	Xp22.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0015607	partial chromosome Y deletion	oboInOwl:hasDbXref	Orphanet:1646	Chromosome Y microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0015608	acute myeloid leukemia and myelodysplastic syndromes related to radiation	oboInOwl:hasDbXref	Orphanet:164726	Acute myeloid leukemia and myelodysplastic syndromes related to radiation	semapv:ManualMappingCuration
MONDO:0015609	advanced sleep phase syndrome	oboInOwl:hasDbXref	Orphanet:164736	Familial advanced sleep-phase syndrome	semapv:ManualMappingCuration
MONDO:0015610	acquired aplastic anemia	oboInOwl:hasDbXref	Orphanet:164823	Rare acquired aplastic anemia	semapv:ManualMappingCuration
MONDO:0015611	neutral lipid storage disease	oboInOwl:hasDbXref	Orphanet:165	Neutral lipid storage disease	semapv:ManualMappingCuration
MONDO:0015612	Dent disease	oboInOwl:hasDbXref	Orphanet:1652	Dent disease	semapv:ManualMappingCuration
MONDO:0015613	dentin dysplasia	oboInOwl:hasDbXref	Orphanet:1653	Dentin dysplasia	semapv:ManualMappingCuration
MONDO:0015614	dermatitis herpetiformis	oboInOwl:hasDbXref	Orphanet:1656	Dermatitis herpetiformis	semapv:ManualMappingCuration
MONDO:0015615	obsolete rare genetic gastroenterological disease	oboInOwl:hasDbXref	Orphanet:165652	Rare genetic gastroenterological disease	semapv:ManualMappingCuration
MONDO:0015616	obsolete rare genetic intestinal disease	oboInOwl:hasDbXref	Orphanet:165655	Genetic intestinal disease	semapv:ManualMappingCuration
MONDO:0015617	obsolete hereditary gastro-esophageal disease	oboInOwl:hasDbXref	Orphanet:165658	Genetic gastro-esophageal disease	semapv:ManualMappingCuration
MONDO:0015618	obsolete genetic pancreatic disease	oboInOwl:hasDbXref	Orphanet:165661	Genetic pancreatic disease	semapv:ManualMappingCuration
MONDO:0015619	obsolete non-syndromic urogenital tract malformation	oboInOwl:hasDbXref	Orphanet:165704	Non-syndromic urogenital tract malformation	semapv:ManualMappingCuration
MONDO:0015620	obsolete syndromic urogenital tract malformation	oboInOwl:hasDbXref	Orphanet:165707	Syndromic urogenital tract malformation	semapv:ManualMappingCuration
MONDO:0015621	obsolete rare abdominal surgical disease	oboInOwl:hasDbXref	Orphanet:165711	Rare abdominal surgical disease	semapv:ManualMappingCuration
MONDO:0015622	wound myiasis	oboInOwl:hasDbXref	Orphanet:165955	Wound myiasis	semapv:ManualMappingCuration
MONDO:0015623	cavitary myiasis	oboInOwl:hasDbXref	Orphanet:165958	Cavitary myiasis	semapv:ManualMappingCuration
MONDO:0015624	diazoxide-sensitive diffuse hyperinsulinism	oboInOwl:hasDbXref	Orphanet:165985	Diazoxide-sensitive diffuse hyperinsulinism	semapv:ManualMappingCuration
MONDO:0015625	diazoxide-resistant diffuse hyperinsulinism	oboInOwl:hasDbXref	Orphanet:165988	Diazoxide-resistant diffuse hyperinsulinism	semapv:ManualMappingCuration
MONDO:0015626	Charcot-Marie-Tooth disease	oboInOwl:hasDbXref	Orphanet:166	Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly	oboInOwl:hasDbXref	Orphanet:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	semapv:ManualMappingCuration
MONDO:0015628	von Willebrand disease type 2A	oboInOwl:hasDbXref	Orphanet:166084	Von Willebrand disease type 2A	semapv:ManualMappingCuration
MONDO:0015629	von Willebrand disease type 2B	oboInOwl:hasDbXref	Orphanet:166087	Von Willebrand disease type 2B	semapv:ManualMappingCuration
MONDO:0015630	von Willebrand disease type 2M	oboInOwl:hasDbXref	Orphanet:166090	Von Willebrand disease type 2M	semapv:ManualMappingCuration
MONDO:0015631	von Willebrand disease type 2N	oboInOwl:hasDbXref	Orphanet:166093	Von Willebrand disease type 2N	semapv:ManualMappingCuration
MONDO:0015632	FASTKD2-related infantile mitochondrial encephalomyopathy	oboInOwl:hasDbXref	Orphanet:166105	FASTKD2-related infantile mitochondrial encephalomyopathy	semapv:ManualMappingCuration
MONDO:0015634	isolated osteopoikilosis	oboInOwl:hasDbXref	Orphanet:166119	Isolated osteopoikilosis	semapv:ManualMappingCuration
MONDO:0015635	porokeratotic eccrine ostial and dermal duct nevus	oboInOwl:hasDbXref	Orphanet:166286	Porokeratotic eccrine ostial and dermal duct nevus	semapv:ManualMappingCuration
MONDO:0015636	dirofilariasis	oboInOwl:hasDbXref	Orphanet:166291	Dirofilariasis	semapv:ManualMappingCuration
MONDO:0015637	benign non-familial infantile seizures	oboInOwl:hasDbXref	Orphanet:166295	Benign non-familial infantile seizures	semapv:ManualMappingCuration
MONDO:0015638	benign partial epilepsy of infancy with complex partial seizures	oboInOwl:hasDbXref	Orphanet:166299	Benign partial epilepsy of infancy with complex partial seizures	semapv:ManualMappingCuration
MONDO:0015639	benign partial epilepsy with secondarily generalized seizures in infancy	oboInOwl:hasDbXref	Orphanet:166302	Benign partial epilepsy with secondarily generalized seizures in infancy	semapv:ManualMappingCuration
MONDO:0015640	benign infantile seizures associated with mild gastroenteritis	oboInOwl:hasDbXref	Orphanet:166305	Benign infantile seizures associated with mild gastroenteritis	semapv:ManualMappingCuration
MONDO:0015641	benign infantile focal epilepsy with midline spikes and wave during sleep	oboInOwl:hasDbXref	Orphanet:166308	Benign infantile focal epilepsy with midline spikes and waves during sleep	semapv:ManualMappingCuration
MONDO:0015642	benign partial infantile seizures	oboInOwl:hasDbXref	Orphanet:166311	Benign partial infantile seizures	semapv:ManualMappingCuration
MONDO:0015643	photosensitive epilepsy	oboInOwl:hasDbXref	Orphanet:166409	Photosensitive epilepsy	semapv:ManualMappingCuration
MONDO:0015644	audiogenic seizures	oboInOwl:hasDbXref	Orphanet:166415	Audiogenic seizures	semapv:ManualMappingCuration
MONDO:0015645	eating seizures	oboInOwl:hasDbXref	Orphanet:166418	Eating reflex epilepsy	semapv:ManualMappingCuration
MONDO:0015646	orgasm-induced seizures	oboInOwl:hasDbXref	Orphanet:166421	Orgasm-induced seizures	semapv:ManualMappingCuration
MONDO:0015647	thinking seizures	oboInOwl:hasDbXref	Orphanet:166424	Thinking seizures	semapv:ManualMappingCuration
MONDO:0015648	startle epilepsy	oboInOwl:hasDbXref	Orphanet:166427	Startle epilepsy	semapv:ManualMappingCuration
MONDO:0015649	micturation-induced seizures	oboInOwl:hasDbXref	Orphanet:166430	Micturation-induced seizures	semapv:ManualMappingCuration
MONDO:0015650	epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:166463	Epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0015651	obsolete neurocutaneous syndrome with epilepsy	oboInOwl:hasDbXref	Orphanet:166466	Neurocutaneous syndrome with epilepsy	semapv:ManualMappingCuration
MONDO:0015652	obsolete chromosomal anomaly with epilepsy as a major feature	oboInOwl:hasDbXref	Orphanet:166469	Chromosomal anomaly with epilepsy as a major feature	semapv:ManualMappingCuration
MONDO:0015653	monogenic epilepsy	oboInOwl:hasDbXref	Orphanet:166472	Monogenic disease with epilepsy	semapv:ManualMappingCuration
MONDO:0015654	obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	oboInOwl:hasDbXref	Orphanet:166475	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	semapv:ManualMappingCuration
MONDO:0015655	obsolete cerebral malformation with epilepsy	oboInOwl:hasDbXref	Orphanet:166478	Cerebral malformation with epilepsy	semapv:ManualMappingCuration
MONDO:0015656	obsolete metabolic disease with epilepsy	oboInOwl:hasDbXref	Orphanet:166481	Metabolic diseases with epilepsy	semapv:ManualMappingCuration
MONDO:0015657	obsolete inflammatory and autoimmune disease with epilepsy	oboInOwl:hasDbXref	Orphanet:166484	Inflammatory and autoimmune disease with epilepsy	semapv:ManualMappingCuration
MONDO:0015658	obsolete cerebral diseases of vascular origin with epilepsy	oboInOwl:hasDbXref	Orphanet:166487	Cerebral diseases of vascular origin with epilepsy	semapv:ManualMappingCuration
MONDO:0015659	obsolete infectious disease with epilepsy	oboInOwl:hasDbXref	Orphanet:166490	Infectious disease with epilepsy	semapv:ManualMappingCuration
MONDO:0015660	sporadic fetal brain disruption sequence	oboInOwl:hasDbXref	Orphanet:1665	Sporadic fetal brain disruption sequence	semapv:ManualMappingCuration
MONDO:0015661	dextrocardia	oboInOwl:hasDbXref	Orphanet:1666	Dextrocardia	semapv:ManualMappingCuration
MONDO:0015662	obsolete hemorrhagic disorder due to an acquired coagulation factor defect	oboInOwl:hasDbXref	Orphanet:166775	Rare hemorrhagic disorder due to an acquired coagulation factor defect	semapv:ManualMappingCuration
MONDO:0015663	diencephalic syndrome	oboInOwl:hasDbXref	Orphanet:1672	Diencephalic syndrome	semapv:ManualMappingCuration
MONDO:0015664	idiopathic pulmonary artery dilatation	oboInOwl:hasDbXref	Orphanet:1676	Idiopathic pulmonary artery dilatation	semapv:ManualMappingCuration
MONDO:0015665	scleromyxedema	oboInOwl:hasDbXref	Orphanet:167635	Scleromyxedema	semapv:ManualMappingCuration
MONDO:0015666	familial idiopathic dilatation of the right atrium	oboInOwl:hasDbXref	Orphanet:1677	Familial idiopathic dilatation of the right atrium	semapv:ManualMappingCuration
MONDO:0015667	acute myeloid leukemia by FAB classification	oboInOwl:hasDbXref	Orphanet:167714	Unclassified acute myeloid leukemia	semapv:ManualMappingCuration
MONDO:0015668	obsolete hereditary dentin defect	oboInOwl:hasDbXref	Orphanet:167759	Hereditary dentin defect	semapv:ManualMappingCuration
MONDO:0015669	obsolete rare disease with dentinogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:167762	Rare disease with dentinogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0015672	diprosopus	oboInOwl:hasDbXref	Orphanet:1681	Diprosopus	semapv:ManualMappingCuration
MONDO:0015673	obsolete rare cardiac tumor	oboInOwl:hasDbXref	Orphanet:168194	Rare cardiac tumor	semapv:ManualMappingCuration
MONDO:0015674	late infantile neuronal ceroid lipofuscinosis	oboInOwl:hasDbXref	Orphanet:168491	OBSOLETE: Late infantile neuronal ceroid lipofuscinosis	semapv:ManualMappingCuration
MONDO:0015675	distomatosis	oboInOwl:hasDbXref	Orphanet:1685	Distomatosis	semapv:ManualMappingCuration
MONDO:0015677	cardiac diverticulum	oboInOwl:hasDbXref	Orphanet:1686	Cardiac diverticulum	semapv:ManualMappingCuration
MONDO:0015678	dysplasia of head of femur, Meyer type	oboInOwl:hasDbXref	Orphanet:168621	Dysplasia of head of femur, Meyer type	semapv:ManualMappingCuration
MONDO:0015679	obsolete autosomal thrombocytopenia with normal platelets	oboInOwl:hasDbXref	Orphanet:168629	Autosomal thrombocytopenia with normal platelets	semapv:ManualMappingCuration
MONDO:0015680	obsolete rare pervasive developmental disorder	oboInOwl:hasDbXref	Orphanet:168778	Rare pervasive developmental disorder	semapv:ManualMappingCuration
MONDO:0015681	childhood disintegrative disorder	oboInOwl:hasDbXref	Orphanet:168782	Childhood disintegrative disorder	semapv:ManualMappingCuration
MONDO:0015682	obsolete primary peritoneal tumor	oboInOwl:hasDbXref	Orphanet:168803	Primary peritoneal tumor	semapv:ManualMappingCuration
MONDO:0015683	obsolete primary malignant peritoneal tumor	oboInOwl:hasDbXref	Orphanet:168807	Primary malignant peritoneal tumor	semapv:ManualMappingCuration
MONDO:0015686	primary peritoneal carcinoma	oboInOwl:hasDbXref	Orphanet:168829	Primary peritoneal carcinoma	semapv:ManualMappingCuration
MONDO:0015687	chronic eosinophilic leukemia	oboInOwl:hasDbXref	Orphanet:168940	Chronic eosinophilic leukemia	semapv:ManualMappingCuration
MONDO:0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2	oboInOwl:hasDbXref	Orphanet:168943	Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2	semapv:ManualMappingCuration
MONDO:0015689	myeloid neoplasm associated with PDGFRA rearrangement	oboInOwl:hasDbXref	Orphanet:168947	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	semapv:ManualMappingCuration
MONDO:0015690	myeloid neoplasm associated with PDGFRB rearrangement	oboInOwl:hasDbXref	Orphanet:168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	semapv:ManualMappingCuration
MONDO:0015691	hypereosinophilic syndrome	oboInOwl:hasDbXref	Orphanet:168956	Hypereosinophilic syndrome	semapv:ManualMappingCuration
MONDO:0015692	refractory anemia with excess blasts in transformation	oboInOwl:hasDbXref	Orphanet:168960	Refractory anemia with excess blasts in transformation	semapv:ManualMappingCuration
MONDO:0015694	malignant melanoma of the mucosa	oboInOwl:hasDbXref	Orphanet:168999	Malignant melanoma of the mucosa	semapv:ManualMappingCuration
MONDO:0015695	combined immunodeficiency due to CRAC channel dysfunction	oboInOwl:hasDbXref	Orphanet:169090	Combined immunodeficiency due to CRAC channel dysfunction	semapv:ManualMappingCuration
MONDO:0015696	Good syndrome	oboInOwl:hasDbXref	Orphanet:169105	Good syndrome	semapv:ManualMappingCuration
MONDO:0015697	immunoglobulin heavy chain deficiency	oboInOwl:hasDbXref	Orphanet:169110	Immunoglobulin heavy chain deficiency	semapv:ManualMappingCuration
MONDO:0015698	transient hypogammaglobulinemia of infancy	oboInOwl:hasDbXref	Orphanet:169139	Transient hypogammaglobulinemia of infancy	semapv:ManualMappingCuration
MONDO:0015699	immunodeficiency due to a classical component pathway complement deficiency	oboInOwl:hasDbXref	Orphanet:169147	Immunodeficiency due to a classical component pathway complement deficiency	semapv:ManualMappingCuration
MONDO:0015700	immunodeficiency due to a late component of complement deficiency	oboInOwl:hasDbXref	Orphanet:169150	Immunodeficiency due to a late component of complement deficiency	semapv:ManualMappingCuration
MONDO:0015701	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	oboInOwl:hasDbXref	Orphanet:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	semapv:ManualMappingCuration
MONDO:0015702	T-B+ severe combined immunodeficiency due to CD45 deficiency	oboInOwl:hasDbXref	Orphanet:169157	T-B+ severe combined immunodeficiency due to CD45 deficiency	semapv:ManualMappingCuration
MONDO:0015703	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	oboInOwl:hasDbXref	Orphanet:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	semapv:ManualMappingCuration
MONDO:0015704	familial scaphocephaly syndrome	oboInOwl:hasDbXref	Orphanet:169163	Familial scaphocephaly syndrome	semapv:ManualMappingCuration
MONDO:0015705	autosomal recessive centronuclear myopathy	oboInOwl:hasDbXref	Orphanet:169186	Autosomal recessive centronuclear myopathy	semapv:ManualMappingCuration
MONDO:0015706	mosaic trisomy 1	oboInOwl:hasDbXref	Orphanet:1692	Mosaic trisomy 1 syndrome	semapv:ManualMappingCuration
MONDO:0015707	obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies	oboInOwl:hasDbXref	Orphanet:169346	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	semapv:ManualMappingCuration
MONDO:0015708	immuno-osseous dysplasia	oboInOwl:hasDbXref	Orphanet:169349	Immuno-osseous dysplasia	semapv:ManualMappingCuration
MONDO:0015709	obsolete immunodeficiency syndrome with autoimmunity	oboInOwl:hasDbXref	Orphanet:169355	Immunodeficiency syndrome with autoimmunity	semapv:ManualMappingCuration
MONDO:0015710	obsolete immune dysregulation disease with immunodeficiency	oboInOwl:hasDbXref	Orphanet:169361	Immune dysregulation disease with immunodeficiency	semapv:ManualMappingCuration
MONDO:0015711	obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	oboInOwl:hasDbXref	Orphanet:169443	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	semapv:ManualMappingCuration
MONDO:0015712	non-distal trisomy 10q	oboInOwl:hasDbXref	Orphanet:1695	Non-distal duplication 10q syndrome	semapv:ManualMappingCuration
MONDO:0015713	idiopathic central precocious puberty	oboInOwl:hasDbXref	Orphanet:169615	NON RARE IN EUROPE: Idiopathic central precocious puberty	semapv:ManualMappingCuration
MONDO:0015714	secondary central precocious puberty	oboInOwl:hasDbXref	Orphanet:169618	NON RARE IN EUROPE: Secondary central precocious puberty	semapv:ManualMappingCuration
MONDO:0015715	severe hemophilia B	oboInOwl:hasDbXref	Orphanet:169793	Severe hemophilia B	semapv:ManualMappingCuration
MONDO:0015716	moderately severe hemophilia B	oboInOwl:hasDbXref	Orphanet:169796	Moderate hemophilia B	semapv:ManualMappingCuration
MONDO:0015717	mild hemophilia B	oboInOwl:hasDbXref	Orphanet:169799	Mild hemophilia B	semapv:ManualMappingCuration
MONDO:0015718	mosaic trisomy 12	oboInOwl:hasDbXref	Orphanet:1698	Mosaic trisomy 12 syndrome	semapv:ManualMappingCuration
MONDO:0015719	severe hemophilia A	oboInOwl:hasDbXref	Orphanet:169802	Severe hemophilia A	semapv:ManualMappingCuration
MONDO:0015720	moderately severe hemophilia A	oboInOwl:hasDbXref	Orphanet:169805	Moderate hemophilia A	semapv:ManualMappingCuration
MONDO:0015721	mild hemophilia A	oboInOwl:hasDbXref	Orphanet:169808	Mild hemophilia A	semapv:ManualMappingCuration
MONDO:0015722	congenital vitamin K-dependent coagulation factors deficiency	oboInOwl:hasDbXref	Orphanet:169826	Congenital vitamin K-dependent coagulation factors deficiency	semapv:ManualMappingCuration
MONDO:0015722	congenital vitamin K-dependent coagulation factors deficiency	oboInOwl:hasDbXref	Orphanet:98434	Hereditary combined deficiency of vitamin K-dependent clotting factors	semapv:ManualMappingCuration
MONDO:0015723	trisomy 12p	oboInOwl:hasDbXref	Orphanet:1699	Trisomy 12p syndrome	semapv:ManualMappingCuration
MONDO:0015724	non-distal trisomy 13q	oboInOwl:hasDbXref	Orphanet:1702	Non-distal duplication 13q syndrome	semapv:ManualMappingCuration
MONDO:0015725	mosaic trisomy 14	oboInOwl:hasDbXref	Orphanet:1703	Mosaic trisomy 14 syndrome	semapv:ManualMappingCuration
MONDO:0015726	distal trisomy 14q	oboInOwl:hasDbXref	Orphanet:1705	Distal duplication 14q syndrome	semapv:ManualMappingCuration
MONDO:0015727	mosaic trisomy 15	oboInOwl:hasDbXref	Orphanet:1706	Mosaic trisomy 15 syndrome	semapv:ManualMappingCuration
MONDO:0015728	distal trisomy 15q	oboInOwl:hasDbXref	Orphanet:1707	Distal duplication 15q syndrome	semapv:ManualMappingCuration
MONDO:0015729	mosaic trisomy 16	oboInOwl:hasDbXref	Orphanet:1708	Mosaic trisomy 16 syndrome	semapv:ManualMappingCuration
MONDO:0015730	mosaic trisomy 17	oboInOwl:hasDbXref	Orphanet:1711	Mosaic trisomy 17 syndrome	semapv:ManualMappingCuration
MONDO:0015731	high anorectal malformation	oboInOwl:hasDbXref	Orphanet:171201	OBSOLETE: High isolated anorectal malformation	semapv:ManualMappingCuration
MONDO:0015732	intermediate anorectal malformation	oboInOwl:hasDbXref	Orphanet:171208	OBSOLETE: Intermediate isolated anorectal malformation	semapv:ManualMappingCuration
MONDO:0015733	low anorectal malformation	oboInOwl:hasDbXref	Orphanet:171215	OBSOLETE: Low isolated anorectal malformation	semapv:ManualMappingCuration
MONDO:0015734	rectal duplication	oboInOwl:hasDbXref	Orphanet:171220	Rectal duplication	semapv:ManualMappingCuration
MONDO:0015735	severe congenital nemaline myopathy	oboInOwl:hasDbXref	Orphanet:171430	Severe congenital nemaline myopathy	semapv:ManualMappingCuration
MONDO:0015736	intermediate nemaline myopathy	oboInOwl:hasDbXref	Orphanet:171433	Intermediate nemaline myopathy	semapv:ManualMappingCuration
MONDO:0015737	typical nemaline myopathy	oboInOwl:hasDbXref	Orphanet:171436	Typical nemaline myopathy	semapv:ManualMappingCuration
MONDO:0015738	childhood-onset nemaline myopathy	oboInOwl:hasDbXref	Orphanet:171439	Childhood-onset nemaline myopathy	semapv:ManualMappingCuration
MONDO:0015739	adult-onset nemaline myopathy	oboInOwl:hasDbXref	Orphanet:171442	Adult-onset nemaline myopathy	semapv:ManualMappingCuration
MONDO:0015740	trisomy 18p	oboInOwl:hasDbXref	Orphanet:1715	Trisomy 18p syndrome	semapv:ManualMappingCuration
MONDO:0015741	distal trisomy 18q	oboInOwl:hasDbXref	Orphanet:1716	Distal duplication 18q syndrome	semapv:ManualMappingCuration
MONDO:0015742	periventricular leukomalacia	oboInOwl:hasDbXref	Orphanet:171676	NON RARE IN EUROPE: Periventricular leukomalacia	semapv:ManualMappingCuration
MONDO:0015743	idiopathic bilateral vestibulopathy	oboInOwl:hasDbXref	Orphanet:171684	Idiopathic bilateral vestibulopathy	semapv:ManualMappingCuration
MONDO:0015744	distal trisomy 19q	oboInOwl:hasDbXref	Orphanet:1717	Distal duplication 19q syndrome	semapv:ManualMappingCuration
MONDO:0015745	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	oboInOwl:hasDbXref	Orphanet:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	semapv:ManualMappingCuration
MONDO:0015746	male infertility due to globozoospermia	oboInOwl:hasDbXref	Orphanet:171709	Male infertility due to globozoospermia	semapv:ManualMappingCuration
MONDO:0015748	hereditary mucosal leukokeratosis	oboInOwl:hasDbXref	Orphanet:171723	White sponge nevus	semapv:ManualMappingCuration
MONDO:0015749	6q16 deletion syndrome	oboInOwl:hasDbXref	Orphanet:171829	6q16 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0015751	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	oboInOwl:hasDbXref	Orphanet:171839	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	semapv:ManualMappingCuration
MONDO:0015752	intellectual disability-cataracts-kyphosis syndrome	oboInOwl:hasDbXref	Orphanet:171860	OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome	semapv:ManualMappingCuration
MONDO:0015753	cap myopathy	oboInOwl:hasDbXref	Orphanet:171881	Cap myopathy	semapv:ManualMappingCuration
MONDO:0015755	myopathy with hexagonally cross-linked tubular arrays	oboInOwl:hasDbXref	Orphanet:171889	Myopathy with hexagonally cross-linked tubular arrays	semapv:ManualMappingCuration
MONDO:0015756	myeloid hemopathy	oboInOwl:hasDbXref	Orphanet:171895	Myeloid hemopathy	semapv:ManualMappingCuration
MONDO:0015757	lymphoid hemopathy	oboInOwl:hasDbXref	Orphanet:171898	Lymphoid hemopathy	semapv:ManualMappingCuration
MONDO:0015758	primary cutaneous T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:171901	Primary cutaneous T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015759	B-cell non-Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:171915	B-cell non-Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0015760	T-cell non-Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:171918	T-cell non-Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0015761	trisomy 10p	oboInOwl:hasDbXref	Orphanet:171929	Trisomy 10p syndrome	semapv:ManualMappingCuration
MONDO:0015762	progressive familial intrahepatic cholestasis	oboInOwl:hasDbXref	Orphanet:172	Progressive familial intrahepatic cholestasis	semapv:ManualMappingCuration
MONDO:0015763	mosaic trisomy 2	oboInOwl:hasDbXref	Orphanet:1723	Mosaic trisomy 2 syndrome	semapv:ManualMappingCuration
MONDO:0015764	mosaic trisomy 20	oboInOwl:hasDbXref	Orphanet:1724	Mosaic trisomy 20 syndrome	semapv:ManualMappingCuration
MONDO:0015765	obsolete congenital myopathy with cores	oboInOwl:hasDbXref	Orphanet:172976	Congenital myopathy with cores	semapv:ManualMappingCuration
MONDO:0015766	cholera	oboInOwl:hasDbXref	Orphanet:173	Cholera	semapv:ManualMappingCuration
MONDO:0015767	trisomy 4p	oboInOwl:hasDbXref	Orphanet:1738	Trisomy 4p syndrome	semapv:ManualMappingCuration
MONDO:0015768	trisomy 5p	oboInOwl:hasDbXref	Orphanet:1742	Trisomy 5p syndrome	semapv:ManualMappingCuration
MONDO:0015769	distal trisomy 6p	oboInOwl:hasDbXref	Orphanet:1745	Distal duplication 6p syndrome	semapv:ManualMappingCuration
MONDO:0015770	congenital hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:174590	Congenital hypogonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0015771	mosaic trisomy 7	oboInOwl:hasDbXref	Orphanet:1747	Mosaic trisomy 7 syndrome	semapv:ManualMappingCuration
MONDO:0015772	trisomy 8q	oboInOwl:hasDbXref	Orphanet:1752	Trisomy 8q syndrome	semapv:ManualMappingCuration
MONDO:0015773	fibular dimelia-diplopodia syndrome	oboInOwl:hasDbXref	Orphanet:1757	Fibular dimelia-diplopodia syndrome	semapv:ManualMappingCuration
MONDO:0015774	thoraco-abdominal enteric duplication	oboInOwl:hasDbXref	Orphanet:1759	Thoraco-abdominal enteric duplication	semapv:ManualMappingCuration
MONDO:0015775	non-rhizomelic chondrodysplasia punctata	oboInOwl:hasDbXref	Orphanet:176	Non-rhizomelic chondrodysplasia punctata	semapv:ManualMappingCuration
MONDO:0015776	rhizomelic chondrodysplasia punctata	oboInOwl:hasDbXref	Orphanet:177	Rhizomelic chondrodysplasia punctata	semapv:ManualMappingCuration
MONDO:0015777	obsolete adult hypothyroidism	oboInOwl:hasDbXref	Orphanet:177101	Rare adult hypothyroidism	semapv:ManualMappingCuration
MONDO:0015778	obsolete syndromic hypothyroidism	oboInOwl:hasDbXref	Orphanet:177107	Syndromic hypothyroidism	semapv:ManualMappingCuration
MONDO:0015779	45,X/46,XY mixed gonadal dysgenesis	oboInOwl:hasDbXref	Orphanet:1772	45,X/46,XY mixed gonadal dysgenesis	semapv:ManualMappingCuration
MONDO:0015780	dyskeratosis congenita	oboInOwl:hasDbXref	Orphanet:1775	Dyskeratosis congenita	semapv:ManualMappingCuration
MONDO:0015781	facial dysmorphism-shawl scrotum-joint laxity syndrome	oboInOwl:hasDbXref	Orphanet:1778	Facial dysmorphism-shawl scrotum-joint laxity syndrome	semapv:ManualMappingCuration
MONDO:0015782	dysmorphism-cleft palate-loose skin syndrome	oboInOwl:hasDbXref	Orphanet:1779	Dysmorphism-cleft palate-loose skin syndrome	semapv:ManualMappingCuration
MONDO:0015783	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	oboInOwl:hasDbXref	Orphanet:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	semapv:ManualMappingCuration
MONDO:0015784	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	oboInOwl:hasDbXref	Orphanet:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	semapv:ManualMappingCuration
MONDO:0015785	Prader-Willi syndrome due to translocation	oboInOwl:hasDbXref	Orphanet:177907	Prader-Willi syndrome due to translocation	semapv:ManualMappingCuration
MONDO:0015786	Prader-Willi syndrome due to imprinting mutation	oboInOwl:hasDbXref	Orphanet:177910	Prader-Willi syndrome due to imprinting mutation	semapv:ManualMappingCuration
MONDO:0015787	symptomatic form of hemophilia A in female carriers	oboInOwl:hasDbXref	Orphanet:177926	Bleeding disorder in hemophilia A carriers	semapv:ManualMappingCuration
MONDO:0015788	symptomatic form of hemophilia B in female carriers	oboInOwl:hasDbXref	Orphanet:177929	Bleeding disorder in hemophilia B carriers	semapv:ManualMappingCuration
MONDO:0015789	obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations	oboInOwl:hasDbXref	Orphanet:178025	Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations	semapv:ManualMappingCuration
MONDO:0015790	central diabetes insipidus	oboInOwl:hasDbXref	Orphanet:178029	Arginine vasopressin deficiency	semapv:ManualMappingCuration
MONDO:0015791	peripheral precocious puberty	oboInOwl:hasDbXref	Orphanet:178040	Rare peripheral precocious puberty	semapv:ManualMappingCuration
MONDO:0015792	transient congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:178045	Transient congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0015793	moderate multiminicore disease with hand involvement	oboInOwl:hasDbXref	Orphanet:178145	Moderate multiminicore disease with hand involvement	semapv:ManualMappingCuration
MONDO:0015794	antenatal multiminicore disease with arthrogryposis multiplex congenita	oboInOwl:hasDbXref	Orphanet:178148	Antenatal multiminicore disease with arthrogryposis multiplex congenita	semapv:ManualMappingCuration
MONDO:0015795	undifferentiated embryonal sarcoma of the liver	oboInOwl:hasDbXref	Orphanet:178315	Undifferentiated embryonal sarcoma of the liver	semapv:ManualMappingCuration
MONDO:0015796	acute lung injury	oboInOwl:hasDbXref	Orphanet:178320	Acute lung injury	semapv:ManualMappingCuration
MONDO:0015797	UV-sensitive syndrome	oboInOwl:hasDbXref	Orphanet:178338	UV-sensitive syndrome	semapv:ManualMappingCuration
MONDO:0015798	inflammatory myofibroblastic tumor	oboInOwl:hasDbXref	Orphanet:178342	Inflammatory myofibroblastic tumor	semapv:ManualMappingCuration
MONDO:0015799	Smith-McCort dysplasia	oboInOwl:hasDbXref	Orphanet:178355	Smith-McCort dysplasia	semapv:ManualMappingCuration
MONDO:0015800	osteosclerosis-developmental delay-craniosynostosis syndrome	oboInOwl:hasDbXref	Orphanet:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	semapv:ManualMappingCuration
MONDO:0015801	hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	oboInOwl:hasDbXref	Orphanet:178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	semapv:ManualMappingCuration
MONDO:0015802	autosomal dominant non-syndromic intellectual disability	oboInOwl:hasDbXref	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0015803	wound botulism	oboInOwl:hasDbXref	Orphanet:178475	Wound botulism	semapv:ManualMappingCuration
MONDO:0015804	infant botulism	oboInOwl:hasDbXref	Orphanet:178478	Infant botulism	semapv:ManualMappingCuration
MONDO:0015805	intestinal botulism	oboInOwl:hasDbXref	Orphanet:178481	Intestinal botulism	semapv:ManualMappingCuration
MONDO:0015806	adult intestinal botulism	oboInOwl:hasDbXref	Orphanet:178487	Adult intestinal botulism	semapv:ManualMappingCuration
MONDO:0015807	myopic macular degeneration	oboInOwl:hasDbXref	Orphanet:178493	NON RARE IN EUROPE: Myopic macular degeneration	semapv:ManualMappingCuration
MONDO:0015808	folliculotropic mycosis fungoides	oboInOwl:hasDbXref	Orphanet:178512	Folliculotropic mycosis fungoides	semapv:ManualMappingCuration
MONDO:0015809	localized pagetoid reticulosis	oboInOwl:hasDbXref	Orphanet:178517	Localized pagetoid reticulosis	semapv:ManualMappingCuration
MONDO:0015810	primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178522	Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015811	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178528	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015812	primary cutaneous gamma/delta-positive T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178533	Primary cutaneous gamma/delta-positive T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015813	primary cutaneous marginal zone B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178536	Primary cutaneous marginal zone B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015814	primary cutaneous follicle center lymphoma	oboInOwl:hasDbXref	Orphanet:178540	Primary cutaneous follicle center lymphoma	semapv:ManualMappingCuration
MONDO:0015816	indolent primary cutaneous T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178548	Indolent primary cutaneous T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015817	obsolete aggressive primary cutaneous T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178551	Aggressive primary cutaneous T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015818	obsolete aggressive primary cutaneous B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178554	Aggressive primary cutaneous B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015819	indolent primary cutaneous B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178557	Indolent primary cutaneous B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015820	primary cutaneous B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:178563	Primary cutaneous B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0015821	mycosis fungoides and variants	oboInOwl:hasDbXref	Orphanet:178566	Mycosis fungoides and variants	semapv:ManualMappingCuration
MONDO:0015822	obsolete acquired neutropenia	oboInOwl:hasDbXref	Orphanet:178996	Acquired neutropenia	semapv:ManualMappingCuration
MONDO:0015823	obsolete primary immunodeficiency due to a defect in adaptive immunity	oboInOwl:hasDbXref	Orphanet:179006	Primary immunodeficiency due to a defect in adaptive immunity	semapv:ManualMappingCuration
MONDO:0015824	oculomaxillofacial dysostosis	oboInOwl:hasDbXref	Orphanet:1794	Oculomaxillofacial dysostosis	semapv:ManualMappingCuration
MONDO:0015825	obsolete obesity due to congenital leptin resistance	oboInOwl:hasDbXref	Orphanet:179490	Obesity due to congenital leptin resistance	semapv:ManualMappingCuration
MONDO:0015826	autosomal dominant spondylocostal dysostosis	oboInOwl:hasDbXref	Orphanet:1797	Autosomal dominant spondylocostal dysostosis	semapv:ManualMappingCuration
MONDO:0015827	distal renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:18	Distal renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0015828	obsolete uterovaginal malformation	oboInOwl:hasDbXref	Orphanet:180062	Uterovaginal malformation	semapv:ManualMappingCuration
MONDO:0015829	obsolete non-syndromic uterovaginal malformation	oboInOwl:hasDbXref	Orphanet:180065	Non-syndromic uterovaginal malformation	semapv:ManualMappingCuration
MONDO:0015830	partial bilateral aplasia of the mullerian ducts	oboInOwl:hasDbXref	Orphanet:180068	Partial bilateral aplasia of the Müllerian ducts	semapv:ManualMappingCuration
MONDO:0015831	unilateral aplasia of the mullerian ducts	oboInOwl:hasDbXref	Orphanet:180071	Unilateral aplasia of the Müllerian ducts	semapv:ManualMappingCuration
MONDO:0015832	true unicornuate uterus	oboInOwl:hasDbXref	Orphanet:180074	True unicornuate uterus	semapv:ManualMappingCuration
MONDO:0015833	pseudounicornuate uterus	oboInOwl:hasDbXref	Orphanet:180079	Pseudounicornuate uterus	semapv:ManualMappingCuration
MONDO:0015834	didelphys uterus	oboInOwl:hasDbXref	Orphanet:180086	Didelphys uterus	semapv:ManualMappingCuration
MONDO:0015835	Bicervical bicornuate uterus and blind hemivagina	oboInOwl:hasDbXref	Orphanet:180106	Bicervical bicornuate uterus and blind hemivagina	semapv:ManualMappingCuration
MONDO:0015836	Bicervical bicornuate uterus with patent cervix and vagina	oboInOwl:hasDbXref	Orphanet:180111	Bicervical bicornuate uterus with patent cervix and vagina	semapv:ManualMappingCuration
MONDO:0015837	obsolete Unicervical bicornuate uterus	oboInOwl:hasDbXref	Orphanet:180114	Unicervical bicornuate uterus	semapv:ManualMappingCuration
MONDO:0015838	cordiform uterus	oboInOwl:hasDbXref	Orphanet:180118	NON RARE IN EUROPE: Cordiform uterus	semapv:ManualMappingCuration
MONDO:0015839	septate uterus	oboInOwl:hasDbXref	Orphanet:180122	Septate uterus	semapv:ManualMappingCuration
MONDO:0015840	complete septate uterus	oboInOwl:hasDbXref	Orphanet:180126	Complete septate uterus	semapv:ManualMappingCuration
MONDO:0015841	partial septate uterus	oboInOwl:hasDbXref	Orphanet:180129	Partial septate uterus	semapv:ManualMappingCuration
MONDO:0015842	bicornuate uterus	oboInOwl:hasDbXref	Orphanet:180134	Bicornuate uterus	semapv:ManualMappingCuration
MONDO:0015843	uterine hypoplasia	oboInOwl:hasDbXref	Orphanet:180139	Uterine hypoplasia	semapv:ManualMappingCuration
MONDO:0015844	agenesis and aplasia of uterine body	oboInOwl:hasDbXref	Orphanet:180142	Absence of uterine body	semapv:ManualMappingCuration
MONDO:0015845	uterine cervical aplasia and agenesis	oboInOwl:hasDbXref	Orphanet:180145	Uterine cervical aplasia and agenesis	semapv:ManualMappingCuration
MONDO:0015846	obsolete syndromic uterovaginal malformation	oboInOwl:hasDbXref	Orphanet:180148	Syndromic uterovaginal malformation	semapv:ManualMappingCuration
MONDO:0015847	obsolete rare vaginal malformation	oboInOwl:hasDbXref	Orphanet:180151	Rare vaginal malformation	semapv:ManualMappingCuration
MONDO:0015848	obsolete septate vagina	oboInOwl:hasDbXref	Orphanet:180154	Septate vagina	semapv:ManualMappingCuration
MONDO:0015849	longitudinal vaginal septum	oboInOwl:hasDbXref	Orphanet:180157	Longitudinal vaginal septum	semapv:ManualMappingCuration
MONDO:0015850	transverse vaginal septum	oboInOwl:hasDbXref	Orphanet:180160	Transverse vaginal septum	semapv:ManualMappingCuration
MONDO:0015851	obsolete rare breast malformation	oboInOwl:hasDbXref	Orphanet:180163	Rare breast malformation	semapv:ManualMappingCuration
MONDO:0015852	obsolete excess breast volume or number	oboInOwl:hasDbXref	Orphanet:180170	Excess breast volume or number	semapv:ManualMappingCuration
MONDO:0015853	obsolete deficient breast volume or number	oboInOwl:hasDbXref	Orphanet:180173	Deficient breast volume or number	semapv:ManualMappingCuration
MONDO:0015854	supernumerary breasts	oboInOwl:hasDbXref	Orphanet:180182	Supernumerary breasts	semapv:ManualMappingCuration
MONDO:0015855	isolated congenital breast hypoplasia/aplasia	oboInOwl:hasDbXref	Orphanet:180188	Isolated congenital breast hypoplasia/aplasia	semapv:ManualMappingCuration
MONDO:0015856	syndromic breast hypoplasia/aplasia	oboInOwl:hasDbXref	Orphanet:180193	Syndromic breast hypoplasia/aplasia	semapv:ManualMappingCuration
MONDO:0015857	obsolete rare non-malformative gynecologic or obstetric disease	oboInOwl:hasDbXref	Orphanet:180199	Rare non-malformative gynecologic or obstetric disease	semapv:ManualMappingCuration
MONDO:0015858	obsolete rare non-malformative breast disease	oboInOwl:hasDbXref	Orphanet:180202	Rare non-malformative breast disease	semapv:ManualMappingCuration
MONDO:0015859	obsolete rare non-malformative uterovaginal or vulvovaginal disease	oboInOwl:hasDbXref	Orphanet:180205	Rare non-malformative uterovaginal or vulvovaginal disease	semapv:ManualMappingCuration
MONDO:0015860	obsolete anomaly of puberty or/and menstrual cycle	oboInOwl:hasDbXref	Orphanet:180208	Anomaly of puberty or/and menstrual cycle	semapv:ManualMappingCuration
MONDO:0015861	obsolete rare uterine adnexal tumor	oboInOwl:hasDbXref	Orphanet:180220	Rare uterine adnexal tumor	semapv:ManualMappingCuration
MONDO:0015863	polyembryoma	oboInOwl:hasDbXref	Orphanet:180229	Polyembryoma	semapv:ManualMappingCuration
MONDO:0015864	mixed germ cell tumor	oboInOwl:hasDbXref	Orphanet:180234	Mixed germ cell tumor	semapv:ManualMappingCuration
MONDO:0015867	vaginal carcinoma	oboInOwl:hasDbXref	Orphanet:180247	Vaginal carcinoma	semapv:ManualMappingCuration
MONDO:0015868	obsolete rare breast tumor	oboInOwl:hasDbXref	Orphanet:180250	Rare breast tumor	semapv:ManualMappingCuration
MONDO:0015869	obsolete rare benign breast tumor	oboInOwl:hasDbXref	Orphanet:180253	Rare benign breast tumor	semapv:ManualMappingCuration
MONDO:0015870	obsolete rare malignant breast tumor	oboInOwl:hasDbXref	Orphanet:180257	Rare malignant breast tumor	semapv:ManualMappingCuration
MONDO:0015871	benign breast phyllodes tumor	oboInOwl:hasDbXref	Orphanet:180261	Phyllodes tumor of the breast	semapv:ManualMappingCuration
MONDO:0015873	Paget disease of the nipple	oboInOwl:hasDbXref	Orphanet:180275	Paget disease of the nipple	semapv:ManualMappingCuration
MONDO:0015874	benign ductal tumor of breast	oboInOwl:hasDbXref	Orphanet:180284	NON RARE IN EUROPE: Benign ductal tumor of breast	semapv:ManualMappingCuration
MONDO:0015875	obsolete rare non-malformative uterine adnexal disease	oboInOwl:hasDbXref	Orphanet:180303	Rare non-malformative uterine adnexal disease	semapv:ManualMappingCuration
MONDO:0015876	obsolete rare vulvovaginal tumor	oboInOwl:hasDbXref	Orphanet:180312	Rare vulvovaginal tumor	semapv:ManualMappingCuration
MONDO:0015877	obsolete malformative syndrome with dentinogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:180766	Malformative syndrome with dentinogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0015878	obsolete rare disease with autism	oboInOwl:hasDbXref	Orphanet:180772	Rare disease with autism	semapv:ManualMappingCuration
MONDO:0015879	obsolete non-syndromic diaphragmatic or thoracic malformation	oboInOwl:hasDbXref	Orphanet:180776	Non-syndromic diaphragmatic or thoracic malformation	semapv:ManualMappingCuration
MONDO:0015880	obsolete syndromic diaphragmatic or thoracic malformation	oboInOwl:hasDbXref	Orphanet:180779	Syndromic diaphragmatic or thoracic malformation	semapv:ManualMappingCuration
MONDO:0015881	obsolete gastroesophageal tumor	oboInOwl:hasDbXref	Orphanet:180821	Rare gastroesophageal tumor	semapv:ManualMappingCuration
MONDO:0015882	obsolete rare tumor of pancreas	oboInOwl:hasDbXref	Orphanet:180824	Rare tumor of pancreas	semapv:ManualMappingCuration
MONDO:0015883	hidrotic ectodermal dysplasia, Halal type	oboInOwl:hasDbXref	Orphanet:1809	Hidrotic ectodermal dysplasia, Halal type	semapv:ManualMappingCuration
MONDO:0015884	autosomal dominant hypohidrotic ectodermal dysplasia	oboInOwl:hasDbXref	Orphanet:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0015885	obsolete rare insulin-resistance syndrome	oboInOwl:hasDbXref	Orphanet:181368	Rare insulin-resistance syndrome	semapv:ManualMappingCuration
MONDO:0015886	obsolete rare diabetes mellitus type 1	oboInOwl:hasDbXref	Orphanet:181371	Rare diabetes mellitus type 1	semapv:ManualMappingCuration
MONDO:0015887	obsolete rare diabetes mellitus type 2	oboInOwl:hasDbXref	Orphanet:181376	Rare diabetes mellitus type 2	semapv:ManualMappingCuration
MONDO:0015888	obsolete other rare diabetes mellitus	oboInOwl:hasDbXref	Orphanet:181381	Other rare diabetes mellitus	semapv:ManualMappingCuration
MONDO:0015889	obsolete rare hypothalamic or pituitary disease	oboInOwl:hasDbXref	Orphanet:181384	Rare hypothalamic or pituitary disease	semapv:ManualMappingCuration
MONDO:0015890	obsolete rare disorder with congenital hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:181387	Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0015891	obsolete hypogonadotropic hypogonadism associated with other endocrinopathies	oboInOwl:hasDbXref	Orphanet:181390	Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature	semapv:ManualMappingCuration
MONDO:0015892	growth hormone insensitivity syndrome	oboInOwl:hasDbXref	Orphanet:181393	Growth hormone insensitivity syndrome	semapv:ManualMappingCuration
MONDO:0015893	obsolete rare hypothyroidism	oboInOwl:hasDbXref	Orphanet:181396	Rare hypothyroidism	semapv:ManualMappingCuration
MONDO:0015894	obsolete rare hyperthyroidism	oboInOwl:hasDbXref	Orphanet:181399	Rare hyperthyroidism	semapv:ManualMappingCuration
MONDO:0015895	obsolete syndrome with hypoparathyroidism	oboInOwl:hasDbXref	Orphanet:181402	Syndrome with hypoparathyroidism	semapv:ManualMappingCuration
MONDO:0015896	obsolete rare hypoparathyroidism	oboInOwl:hasDbXref	Orphanet:181405	Rare hypoparathyroidism	semapv:ManualMappingCuration
MONDO:0015897	obsolete rare hyperparathyroidism	oboInOwl:hasDbXref	Orphanet:181408	Rare hyperparathyroidism	semapv:ManualMappingCuration
MONDO:0015898	adrenogenital syndrome	oboInOwl:hasDbXref	Orphanet:181412	Adrenogenital syndrome	semapv:ManualMappingCuration
MONDO:0015899	obsolete rare primary hyperaldosteronism	oboInOwl:hasDbXref	Orphanet:181415	Rare primary hyperaldosteronism	semapv:ManualMappingCuration
MONDO:0015900	hypoaldosteronism disease	oboInOwl:hasDbXref	Orphanet:181419	Rare hypoaldosteronism	semapv:ManualMappingCuration
MONDO:0015901	obsolete rare inherited hyperlipidemia	oboInOwl:hasDbXref	Orphanet:181422	Rare hyperlipidemia	semapv:ManualMappingCuration
MONDO:0015902	obsolete major hypertriglyceridemia	oboInOwl:hasDbXref	Orphanet:181425	OBSOLETE: Rare major hypertriglyceridemia	semapv:ManualMappingCuration
MONDO:0015903	hyperalphalipoproteinemia	oboInOwl:hasDbXref	Orphanet:181428	Familial Hyperalphalipoproteinemia	semapv:ManualMappingCuration
MONDO:0015904	obsolete rare hypolipidemia	oboInOwl:hasDbXref	Orphanet:181431	Rare hypolipidemia	semapv:ManualMappingCuration
MONDO:0015905	syndromic dyslipidemia	oboInOwl:hasDbXref	Orphanet:181437	Rare syndromic dyslipidemia	semapv:ManualMappingCuration
MONDO:0015906	obsolete rare disorder with hypergonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:181441	Rare disorder with hypergonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0015907	epimetaphyseal skeletal dysplasia	oboInOwl:hasDbXref	Orphanet:1819	OBSOLETE: Epimetaphyseal skeletal dysplasia	semapv:ManualMappingCuration
MONDO:0015908	chromomycosis	oboInOwl:hasDbXref	Orphanet:182	Chromomycosis	semapv:ManualMappingCuration
MONDO:0015909	aplastic anemia	oboInOwl:hasDbXref	Orphanet:182040	Rare aplastic anemia	semapv:ManualMappingCuration
MONDO:0015910	obsolete rare constitutional hemolytic anemia	oboInOwl:hasDbXref	Orphanet:182043	Rare constitutional hemolytic anemia	semapv:ManualMappingCuration
MONDO:0015911	obsolete rare acquired hemolytic anemia	oboInOwl:hasDbXref	Orphanet:182047	Rare acquired hemolytic anemia	semapv:ManualMappingCuration
MONDO:0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:1019	Epstein syndrome	semapv:ManualMappingCuration
MONDO:0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:182050	MYH9-related disease	semapv:ManualMappingCuration
MONDO:0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:1984	Fechtner syndrome	semapv:ManualMappingCuration
MONDO:0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:807	Sebastian syndrome	semapv:ManualMappingCuration
MONDO:0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:850	May-Hegglin thrombocytopenia	semapv:ManualMappingCuration
MONDO:0015913	obsolete rare thrombotic disease of hematologic origin	oboInOwl:hasDbXref	Orphanet:182054	Rare thrombotic disease of hematologic origin	semapv:ManualMappingCuration
MONDO:0015914	primary orthostatic hypotension	oboInOwl:hasDbXref	Orphanet:182058	Primary orthostatic hypotension	semapv:ManualMappingCuration
MONDO:0015915	obsolete cerebellar malformation	oboInOwl:hasDbXref	Orphanet:182061	Cerebellar malformation	semapv:ManualMappingCuration
MONDO:0015916	obsolete rare neuroinflammatory or neuroimmunological disease	oboInOwl:hasDbXref	Orphanet:182064	Rare neuroinflammatory or neuroimmunological disease	semapv:ManualMappingCuration
MONDO:0015918	obsolete rare neurodegenerative disease	oboInOwl:hasDbXref	Orphanet:182070	Rare neurodegenerative disease	semapv:ManualMappingCuration
MONDO:0015919	obsolete syndromic neurometabolic disease with non-X-linked intellectual disability	oboInOwl:hasDbXref	Orphanet:182073	OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability	semapv:ManualMappingCuration
MONDO:0015920	obsolete syndromic neurometabolic disease with X-linked intellectual disability	oboInOwl:hasDbXref	Orphanet:182076	OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability	semapv:ManualMappingCuration
MONDO:0015921	obsolete ARX-related epileptic encephalopathy	oboInOwl:hasDbXref	Orphanet:182079	ARX-related epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0015922	obsolete channelopathy with epilepsy	oboInOwl:hasDbXref	Orphanet:182083	Channelopathy with epilepsy	semapv:ManualMappingCuration
MONDO:0015923	acquired peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:182086	Acquired peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0015924	pulmonary arterial hypertension	oboInOwl:hasDbXref	Orphanet:182090	Pulmonary arterial hypertension	semapv:ManualMappingCuration
MONDO:0015925	interstitial lung disease	oboInOwl:hasDbXref	Orphanet:182095	Interstitial lung disease	semapv:ManualMappingCuration
MONDO:0015926	pneumoconiosis	oboInOwl:hasDbXref	Orphanet:182098	Pneumoconiosis	semapv:ManualMappingCuration
MONDO:0015927	idiopathic eosinophilic pneumonia	oboInOwl:hasDbXref	Orphanet:182101	Idiopathic eosinophilic pneumonia	semapv:ManualMappingCuration
MONDO:0015928	obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	oboInOwl:hasDbXref	Orphanet:182104	Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	semapv:ManualMappingCuration
MONDO:0015929	thoracic malformation	oboInOwl:hasDbXref	Orphanet:182108	Thoracic malformation	semapv:ManualMappingCuration
MONDO:0015930	obsolete respiratory malformation	oboInOwl:hasDbXref	Orphanet:182111	Respiratory malformation	semapv:ManualMappingCuration
MONDO:0015931	obsolete rare urogenital tumor	oboInOwl:hasDbXref	Orphanet:182114	Rare urogenital tumor	semapv:ManualMappingCuration
MONDO:0015932	obsolete non-syndromic urogenital tract malformation of female	oboInOwl:hasDbXref	Orphanet:182117	Non-syndromic urogenital tract malformation of female	semapv:ManualMappingCuration
MONDO:0015933	obsolete non-syndromic urogenital tract malformation of male	oboInOwl:hasDbXref	Orphanet:182121	Non-syndromic urogenital tract malformation of male	semapv:ManualMappingCuration
MONDO:0015934	obsolete non-syndromic urogenital tract malformation of male and female	oboInOwl:hasDbXref	Orphanet:182124	Non-syndromic urogenital tract malformation of male and female	semapv:ManualMappingCuration
MONDO:0015935	extragonadal germinoma	oboInOwl:hasDbXref	Orphanet:182127	Extragonadal germinoma	semapv:ManualMappingCuration
MONDO:0015936	obsolete rare tumor of endocrine glands	oboInOwl:hasDbXref	Orphanet:182130	Tumor of endocrine glands	semapv:ManualMappingCuration
MONDO:0015937	obsolete rare inflammatory eye disease	oboInOwl:hasDbXref	Orphanet:182214	OBSOLETE: Rare inflammatory eye disease	semapv:ManualMappingCuration
MONDO:0015939	obsolete systemic autoimmune disease	oboInOwl:hasDbXref	Orphanet:182228	Systemic autoimmune disease	semapv:ManualMappingCuration
MONDO:0015940	obsolete rare rheumatologic disease	oboInOwl:hasDbXref	Orphanet:182231	Rare rheumatologic disease	semapv:ManualMappingCuration
MONDO:0015941	epiphyseal dysplasia-hearing loss-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:1825	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0015942	frontometaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:1826	Frontometaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0015943	eosinophilic granulomatosis with polyangiitis	oboInOwl:hasDbXref	Orphanet:183	Eosinophilic granulomatosis with polyangiitis	semapv:ManualMappingCuration
MONDO:0015944	axial mesodermal dysplasia spectrum	oboInOwl:hasDbXref	Orphanet:1834	Axial mesodermal dysplasia spectrum	semapv:ManualMappingCuration
MONDO:0015945	obsolete polymalformative genetic syndrome with increased risk of developing cancer	oboInOwl:hasDbXref	Orphanet:183422	Polymalformative genetic syndrome with increased risk of developing cancer	semapv:ManualMappingCuration
MONDO:0015946	obsolete rare genetic epidermal disorder	oboInOwl:hasDbXref	Orphanet:183426	Genetic epidermal disorder	semapv:ManualMappingCuration
MONDO:0015947	inherited ichthyosis	oboInOwl:hasDbXref	Orphanet:183435	Inherited ichthyosis	semapv:ManualMappingCuration
MONDO:0015948	obsolete rare genetic skin vascular disorder	oboInOwl:hasDbXref	Orphanet:183478	Genetic skin vascular disorder	semapv:ManualMappingCuration
MONDO:0015949	obsolete rare genetic subcutaneous tissue disorder	oboInOwl:hasDbXref	Orphanet:183484	Genetic subcutaneous tissue disorder	semapv:ManualMappingCuration
MONDO:0015950	obsolete inherited skin tumor	oboInOwl:hasDbXref	Orphanet:183487	Genetic skin tumor or hamartoma	semapv:ManualMappingCuration
MONDO:0015951	hereditary photodermatosis	oboInOwl:hasDbXref	Orphanet:183490	Genetic photodermatosis	semapv:ManualMappingCuration
MONDO:0015953	obsolete genetic central nervous system and retinal vascular disease	oboInOwl:hasDbXref	Orphanet:183503	Genetic central nervous system and retinal vascular disease	semapv:ManualMappingCuration
MONDO:0015954	obsolete rare genetic headache disorder	oboInOwl:hasDbXref	Orphanet:183509	Rare genetic headache	semapv:ManualMappingCuration
MONDO:0015955	obsolete rare genetic epilepsy	oboInOwl:hasDbXref	Orphanet:183512	Rare genetic epilepsy	semapv:ManualMappingCuration
MONDO:0015957	obsolete rare genetic movement disorder	oboInOwl:hasDbXref	Orphanet:183521	Rare genetic movement disorder	semapv:ManualMappingCuration
MONDO:0015958	obsolete rare genetic bone disease	oboInOwl:hasDbXref	Orphanet:183524	Rare genetic bone disease	semapv:ManualMappingCuration
MONDO:0015959	obsolete inherited syndrome with bone tumors as a major feature	oboInOwl:hasDbXref	Orphanet:183527	Genetic bone tumor	semapv:ManualMappingCuration
MONDO:0015960	obsolete rare genetic developmental defect during embryogenesis	oboInOwl:hasDbXref	Orphanet:183530	Rare genetic developmental defect during embryogenesis	semapv:ManualMappingCuration
MONDO:0015961	obsolete hereditary head and neck malformation	oboInOwl:hasDbXref	Orphanet:183583	Genetic head and neck malformation	semapv:ManualMappingCuration
MONDO:0015962	inherited renal tubular disease	oboInOwl:hasDbXref	Orphanet:183592	Genetic renal tubular disease	semapv:ManualMappingCuration
MONDO:0015963	obsolete inherited renal tumor	oboInOwl:hasDbXref	Orphanet:183595	Genetic renal tumor	semapv:ManualMappingCuration
MONDO:0015964	obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease	oboInOwl:hasDbXref	Orphanet:183598	OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease	semapv:ManualMappingCuration
MONDO:0015965	obsolete rare genetic refraction anomaly	oboInOwl:hasDbXref	Orphanet:183601	OBSOLETE: Rare genetic refraction anomaly	semapv:ManualMappingCuration
MONDO:0015966	obsolete hereditary eye tumor	oboInOwl:hasDbXref	Orphanet:183619	Genetic eye tumor	semapv:ManualMappingCuration
MONDO:0015967	monogenic diabetes	oboInOwl:hasDbXref	Orphanet:183625	Rare genetic diabetes mellitus	semapv:ManualMappingCuration
MONDO:0015968	obsolete rare genetic hypothalamic or pituitary disease	oboInOwl:hasDbXref	Orphanet:183628	Rare genetic hypothalamic or pituitary disease	semapv:ManualMappingCuration
MONDO:0015969	obsolete rare genetic thyroid disease	oboInOwl:hasDbXref	Orphanet:183631	Rare genetic thyroid disease	semapv:ManualMappingCuration
MONDO:0015970	obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder	oboInOwl:hasDbXref	Orphanet:183634	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	semapv:ManualMappingCuration
MONDO:0015971	obsolete rare genetic adrenal disease	oboInOwl:hasDbXref	Orphanet:183637	Rare genetic adrenal disease	semapv:ManualMappingCuration
MONDO:0015972	obsolete rare constitutional anemia	oboInOwl:hasDbXref	Orphanet:183651	Rare constitutional anemia	semapv:ManualMappingCuration
MONDO:0015974	severe combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:183660	Severe combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0015975	obsolete hyper-IgM syndrome with susceptibility to opportunistic infections	oboInOwl:hasDbXref	Orphanet:183663	Hyper-IgM syndrome with susceptibility to opportunistic infections	semapv:ManualMappingCuration
MONDO:0015976	obsolete hyper-IgM syndrome without susceptibility to opportunistic infections	oboInOwl:hasDbXref	Orphanet:183666	Hyper-IgM syndrome without susceptibility to opportunistic infections	semapv:ManualMappingCuration
MONDO:0015977	agammaglobulinemia	oboInOwl:hasDbXref	Orphanet:183669	Agammaglobulinemia	semapv:ManualMappingCuration
MONDO:0015978	functional neutrophil defect	oboInOwl:hasDbXref	Orphanet:183681	Congenital functional phagocyte defect	semapv:ManualMappingCuration
MONDO:0015979	obsolete hereditary predisposition to infections	oboInOwl:hasDbXref	Orphanet:183710	Genetic susceptibility to infections due to particular pathogens	semapv:ManualMappingCuration
MONDO:0015980	obsolete rare genetic gynecological and obstetrical diseases	oboInOwl:hasDbXref	Orphanet:183731	Rare genetic gynecological and obstetrical diseases	semapv:ManualMappingCuration
MONDO:0015981	obsolete inherited gynecological tumor	oboInOwl:hasDbXref	Orphanet:183734	Genetic gynecological tumor	semapv:ManualMappingCuration
MONDO:0015982	obsolete rare genetic intellectual disability	oboInOwl:hasDbXref	Orphanet:183757	Rare genetic intellectual disability	semapv:ManualMappingCuration
MONDO:0015983	obsolete rare genetic syndromic intellectual disability	oboInOwl:hasDbXref	Orphanet:183763	Rare genetic syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0015984	obsolete rare genetic immune disease	oboInOwl:hasDbXref	Orphanet:183770	Rare genetic immune disease	semapv:ManualMappingCuration
MONDO:0015985	obsolete bone dysplasia, Azouz type	oboInOwl:hasDbXref	Orphanet:1844	OBSOLETE: Bone dysplasia, Azouz type	semapv:ManualMappingCuration
MONDO:0015986	bilateral renal agenesis	oboInOwl:hasDbXref	Orphanet:1848	Renal agenesis, bilateral	semapv:ManualMappingCuration
MONDO:0015987	scimitar syndrome	oboInOwl:hasDbXref	Orphanet:185	Scimitar syndrome	semapv:ManualMappingCuration
MONDO:0015988	multicystic dysplastic kidney	oboInOwl:hasDbXref	Orphanet:1851	Multicystic dysplastic kidney	semapv:ManualMappingCuration
MONDO:0015990	focal, segmental or multifocal dystonia	oboInOwl:hasDbXref	Orphanet:1866	Focal, segmental or multifocal dystonia	semapv:ManualMappingCuration
MONDO:0015991	citrullinemia	oboInOwl:hasDbXref	Orphanet:187	Citrullinemia	semapv:ManualMappingCuration
MONDO:0015993	cone-rod dystrophy	oboInOwl:hasDbXref	Orphanet:1872	Cone rod dystrophy	semapv:ManualMappingCuration
MONDO:0015994	muscular dystrophy-white matter spongiosis syndrome	oboInOwl:hasDbXref	Orphanet:1877	Muscular dystrophy-white matter spongiosis syndrome	semapv:ManualMappingCuration
MONDO:0015995	melorheostosis with osteopoikilosis	oboInOwl:hasDbXref	Orphanet:1879	Melorheostosis with osteopoikilosis	semapv:ManualMappingCuration
MONDO:0015997	ectopia lentis-chorioretinal dystrophy-myopia syndrome	oboInOwl:hasDbXref	Orphanet:1884	Ectopia lentis-chorioretinal dystrophy-myopia syndrome	semapv:ManualMappingCuration
MONDO:0015998	isolated ectopia lentis	oboInOwl:hasDbXref	Orphanet:1885	Isolated ectopia lentis	semapv:ManualMappingCuration
MONDO:0015999	primary pigmented nodular adrenocortical disease	oboInOwl:hasDbXref	Orphanet:189439	OBSOLETE: Primary pigmented nodular adrenocortical disease	semapv:ManualMappingCuration
MONDO:0016000	familial isolated hypoparathyroidism due to impaired PTH secretion	oboInOwl:hasDbXref	Orphanet:189466	Familial isolated hypoparathyroidism due to impaired PTH secretion	semapv:ManualMappingCuration
MONDO:0016001	2-hydroxyglutaric aciduria	oboInOwl:hasDbXref	Orphanet:19	2-hydroxyglutaric aciduria	semapv:ManualMappingCuration
MONDO:0016002	Ehlers-Danlos syndrome, kyphoscoliotic type 1	oboInOwl:hasDbXref	Orphanet:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	semapv:ManualMappingCuration
MONDO:0016003	ehrlichiosis	oboInOwl:hasDbXref	Orphanet:1902	Ehrlichiosis	semapv:ManualMappingCuration
MONDO:0016004	aminopterin/methotrexate embryofetopathy	oboInOwl:hasDbXref	Orphanet:1908	Aminopterin/methotrexate embryofetopathy	semapv:ManualMappingCuration
MONDO:0016005	indomethacin embryofetopathy	oboInOwl:hasDbXref	Orphanet:1909	Indomethacin embryofetopathy	semapv:ManualMappingCuration
MONDO:0016006	Cockayne syndrome	oboInOwl:hasDbXref	Orphanet:191	Cockayne syndrome	semapv:ManualMappingCuration
MONDO:0016007	cocaine embryofetopathy	oboInOwl:hasDbXref	Orphanet:1911	Cocaine embryofetopathy	semapv:ManualMappingCuration
MONDO:0016008	fetal hydantoin syndrome	oboInOwl:hasDbXref	Orphanet:1912	Fetal hydantoin syndrome	semapv:ManualMappingCuration
MONDO:0016009	fetal trimethadione syndrome	oboInOwl:hasDbXref	Orphanet:1913	Fetal trimethadione syndrome	semapv:ManualMappingCuration
MONDO:0016010	vitamin K-antagonist embryofetopathy	oboInOwl:hasDbXref	Orphanet:1914	Vitamin K antagonist embryofetopathy	semapv:ManualMappingCuration
MONDO:0016011	fetal alcohol syndrome	oboInOwl:hasDbXref	Orphanet:1915	Fetal alcohol syndrome	semapv:ManualMappingCuration
MONDO:0016012	diethylstilbestrol syndrome	oboInOwl:hasDbXref	Orphanet:1916	Diethylstilbestrol syndrome	semapv:ManualMappingCuration
MONDO:0016013	fetal methylmercury syndrome	oboInOwl:hasDbXref	Orphanet:1917	Fetal methylmercury syndrome	semapv:ManualMappingCuration
MONDO:0016014	fetal minoxidil syndrome	oboInOwl:hasDbXref	Orphanet:1918	Fetal minoxidil syndrome	semapv:ManualMappingCuration
MONDO:0016015	phenobarbital embryopathy	oboInOwl:hasDbXref	Orphanet:1919	Phenobarbital embryopathy	semapv:ManualMappingCuration
MONDO:0016016	toluene embryopathy	oboInOwl:hasDbXref	Orphanet:1920	Toluene embryopathy	semapv:ManualMappingCuration
MONDO:0016017	methimazole embryofetopathy	oboInOwl:hasDbXref	Orphanet:1923	Methimazole embryofetopathy	semapv:ManualMappingCuration
MONDO:0016018	diabetic embryopathy	oboInOwl:hasDbXref	Orphanet:1926	Diabetic embryopathy	semapv:ManualMappingCuration
MONDO:0016019	Rasmussen subacute encephalitis	oboInOwl:hasDbXref	Orphanet:1929	Rasmussen subacute encephalitis	semapv:ManualMappingCuration
MONDO:0016020	frontal encephalocele	oboInOwl:hasDbXref	Orphanet:1931	Frontal encephalocele	semapv:ManualMappingCuration
MONDO:0016024	shoulder and thorax deformity-congenital heart disease syndrome	oboInOwl:hasDbXref	Orphanet:1940	Shoulder and thorax deformity-congenital heart disease syndrome	semapv:ManualMappingCuration
MONDO:0016026	infant epilepsy with migrant focal crisis	oboInOwl:hasDbXref	Orphanet:1943	Early-onset progressive encephalopathy with migrant continuous myoclonus	semapv:ManualMappingCuration
MONDO:0016027	benign neonatal seizures	oboInOwl:hasDbXref	Orphanet:1949	Self-limited neonatal epilepsy	semapv:ManualMappingCuration
MONDO:0016028	erythromelalgia	oboInOwl:hasDbXref	Orphanet:1956	OBSOLETE: Erythromelalgia	semapv:ManualMappingCuration
MONDO:0016029	esthesioneuroblastoma	oboInOwl:hasDbXref	Orphanet:1957	Esthesioneuroblastoma	semapv:ManualMappingCuration
MONDO:0016030	Evans syndrome	oboInOwl:hasDbXref	Orphanet:1959	Evans syndrome	semapv:ManualMappingCuration
MONDO:0016031	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	oboInOwl:hasDbXref	Orphanet:1969	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	semapv:ManualMappingCuration
MONDO:0016032	femoral agenesis/hypoplasia	oboInOwl:hasDbXref	Orphanet:1987	Isolated femoral agenesis/hypoplasia	semapv:ManualMappingCuration
MONDO:0016033	Cornelia de Lange syndrome	oboInOwl:hasDbXref	Orphanet:199	Cornelia de Lange syndrome	semapv:ManualMappingCuration
MONDO:0016034	obsolete cleft lip with or without cleft palate	oboInOwl:hasDbXref	Orphanet:1991	Cleft lip with or without cleft palate	semapv:ManualMappingCuration
MONDO:0016035	Nelson syndrome	oboInOwl:hasDbXref	Orphanet:199244	Nelson syndrome	semapv:ManualMappingCuration
MONDO:0016037	superficial Fibromatosis	oboInOwl:hasDbXref	Orphanet:199257	Superficial fibromatosis	semapv:ManualMappingCuration
MONDO:0016038	calcified aponeurotic fibroma	oboInOwl:hasDbXref	Orphanet:199260	Calcifying aponeurotic fibroma	semapv:ManualMappingCuration
MONDO:0016039	infantile digital fibromatosis	oboInOwl:hasDbXref	Orphanet:199267	Infantile digital fibromatosis	semapv:ManualMappingCuration
MONDO:0016040	harlequin syndrome	oboInOwl:hasDbXref	Orphanet:199282	Harlequin syndrome	semapv:ManualMappingCuration
MONDO:0016041	congenital microgastria	oboInOwl:hasDbXref	Orphanet:199293	Congenital microgastria	semapv:ManualMappingCuration
MONDO:0016042	late-onset isolated ACTH deficiency	oboInOwl:hasDbXref	Orphanet:199299	Late-onset isolated ACTH deficiency	semapv:ManualMappingCuration
MONDO:0016043	isolated cleft lip	oboInOwl:hasDbXref	Orphanet:199302	Isolated cleft lip	semapv:ManualMappingCuration
MONDO:0016044	cleft lip/palate	oboInOwl:hasDbXref	Orphanet:199306	Cleft lip/palate	semapv:ManualMappingCuration
MONDO:0016045	tetragametic chimerism	oboInOwl:hasDbXref	Orphanet:199310	Tetragametic chimerism syndrome	semapv:ManualMappingCuration
MONDO:0016046	familial clubfoot with or without associated lower limb anomalies	oboInOwl:hasDbXref	Orphanet:199315	Familial clubfoot with or without associated lower limb anomalies	semapv:ManualMappingCuration
MONDO:0016047	endophthalmitis	oboInOwl:hasDbXref	Orphanet:199323	Endophthalmitis	semapv:ManualMappingCuration
MONDO:0016048	isolated autosomal dominant hypomagnesemia, Glaudemans type	oboInOwl:hasDbXref	Orphanet:199326	Isolated autosomal dominant hypomagnesemia, Glaudemans type	semapv:ManualMappingCuration
MONDO:0016049	congenital myopathy, Paradas type	oboInOwl:hasDbXref	Orphanet:199329	Congenital myopathy, Paradas type	semapv:ManualMappingCuration
MONDO:0016051	cleft lip-retinopathy syndrome	oboInOwl:hasDbXref	Orphanet:1995	Cleft lip-retinopathy syndrome	semapv:ManualMappingCuration
MONDO:0016052	atypical autism	oboInOwl:hasDbXref	Orphanet:199627	Atypical autism	semapv:ManualMappingCuration
MONDO:0016053	isolated cerebellar vermis hypoplasia	oboInOwl:hasDbXref	Orphanet:199630	Isolated cerebellar vermis hypoplasia	semapv:ManualMappingCuration
MONDO:0016054	obsolete cerebral malformation	oboInOwl:hasDbXref	Orphanet:199633	Non-syndromic cerebral malformation	semapv:ManualMappingCuration
MONDO:0016055	obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature	oboInOwl:hasDbXref	Orphanet:199639	Syndrome with corpus callosum agenesis/dysgenesis as a major feature	semapv:ManualMappingCuration
MONDO:0016056	isolated congenital microcephaly	oboInOwl:hasDbXref	Orphanet:199642	Isolated congenital microcephaly	semapv:ManualMappingCuration
MONDO:0016057	isolated encephalocele	oboInOwl:hasDbXref	Orphanet:199647	Isolated encephalocele	semapv:ManualMappingCuration
MONDO:0016058	paroxysmal dystonia	oboInOwl:hasDbXref	Orphanet:200037	Paroxysmal dystonia	semapv:ManualMappingCuration
MONDO:0016059	cleft lip/palate-deafness-sacral lipoma syndrome	oboInOwl:hasDbXref	Orphanet:2003	Cleft lip/palate-deafness-sacral lipoma syndrome	semapv:ManualMappingCuration
MONDO:0016060	laryngotracheoesophageal cleft	oboInOwl:hasDbXref	Orphanet:2004	Laryngotracheoesophageal cleft	semapv:ManualMappingCuration
MONDO:0016061	immunodeficiency with factor H anomaly	oboInOwl:hasDbXref	Orphanet:200421	Immunodeficiency with factor H anomaly	semapv:ManualMappingCuration
MONDO:0016062	median cleft lip/mandibule	oboInOwl:hasDbXref	Orphanet:2006	Median cleft lip/mandible	semapv:ManualMappingCuration
MONDO:0016063	Cowden disease	oboInOwl:hasDbXref	Orphanet:201	Cowden syndrome	semapv:ManualMappingCuration
MONDO:0016064	cleft palate	oboInOwl:hasDbXref	Orphanet:2014	Cleft palate	semapv:ManualMappingCuration
MONDO:0016065	cleft palate-short stature-vertebral anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2015	Cleft palate-short stature-vertebral anomalies syndrome	semapv:ManualMappingCuration
MONDO:0016066	sternal cleft	oboInOwl:hasDbXref	Orphanet:2017	Sternal cleft	semapv:ManualMappingCuration
MONDO:0016067	Crandall syndrome	oboInOwl:hasDbXref	Orphanet:202	Crandall syndrome	semapv:ManualMappingCuration
MONDO:0016068	fibrochondrogenesis	oboInOwl:hasDbXref	Orphanet:2021	Fibrochondrogenesis	semapv:ManualMappingCuration
MONDO:0016070	hereditary gingival fibromatosis	oboInOwl:hasDbXref	Orphanet:2024	Hereditary gingival fibromatosis	semapv:ManualMappingCuration
MONDO:0016071	juvenile hyaline fibromatosis	oboInOwl:hasDbXref	Orphanet:2028	Juvenile hyaline fibromatosis	semapv:ManualMappingCuration
MONDO:0016072	obsolete anomaly of puberty or/and menstrual cycle of genetic origin	oboInOwl:hasDbXref	Orphanet:202940	Anomaly of puberty or/and menstrual cycle of genetic origin	semapv:ManualMappingCuration
MONDO:0016073	syndromic microphthalmia	oboInOwl:hasDbXref	Orphanet:202948	Syndromic microphthalmia-anophthalmia-coloboma	semapv:ManualMappingCuration
MONDO:0016075	filariasis	oboInOwl:hasDbXref	Orphanet:2034	Filariasis	semapv:ManualMappingCuration
MONDO:0016077	congenital aortopulmonary window	oboInOwl:hasDbXref	Orphanet:2037	Congenital aortopulmonary window	semapv:ManualMappingCuration
MONDO:0016078	congenital systemic arteriovenous fistula	oboInOwl:hasDbXref	Orphanet:2039	Congenital systemic arteriovenous fistula	semapv:ManualMappingCuration
MONDO:0016079	sporadic Creutzfeldt-Jakob disease	oboInOwl:hasDbXref	Orphanet:204	Sporadic Creutzfeldt-Jakob disease	semapv:ManualMappingCuration
MONDO:0016080	congenital bronchobiliary fistula	oboInOwl:hasDbXref	Orphanet:2040	Congenital respiratory-biliary fistula	semapv:ManualMappingCuration
MONDO:0016081	coronary arterial fistulas	oboInOwl:hasDbXref	Orphanet:2041	Coronary arterial fistula	semapv:ManualMappingCuration
MONDO:0016082	obsolete tracheo-esophageal fistula-hypospadias syndrome	oboInOwl:hasDbXref	Orphanet:2042	OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome	semapv:ManualMappingCuration
MONDO:0016083	FLOTCH syndrome	oboInOwl:hasDbXref	Orphanet:2045	FLOTCH syndrome	semapv:ManualMappingCuration
MONDO:0016085	Cole-Carpenter syndrome	oboInOwl:hasDbXref	Orphanet:2050	Cole-Carpenter syndrome	semapv:ManualMappingCuration
MONDO:0016086	osteochondritis of tarsal/metatarsal bone	oboInOwl:hasDbXref	Orphanet:2054	OBSOLETE: Osteochondritis of tarsal/metatarsal bone	semapv:ManualMappingCuration
MONDO:0016086	osteochondritis of tarsal/metatarsal bone	oboInOwl:hasDbXref	Orphanet:563991	Osteochondrosis of the tarsal bone	semapv:ManualMappingCuration
MONDO:0016087	progressive non-infectious anterior vertebral fusion	oboInOwl:hasDbXref	Orphanet:2062	Progressive non-infectious anterior vertebral fusion	semapv:ManualMappingCuration
MONDO:0016088	hypoxanthine-guanine phosphoribosyltransferase deficiency	oboInOwl:hasDbXref	Orphanet:206428	Hypoxanthine-guanine phosphoribosyltransferase deficiency	semapv:ManualMappingCuration
MONDO:0016089	infantile Krabbe disease	oboInOwl:hasDbXref	Orphanet:206436	Infantile Krabbe disease	semapv:ManualMappingCuration
MONDO:0016090	late-infantile/juvenile Krabbe disease	oboInOwl:hasDbXref	Orphanet:206443	Late-infantile/juvenile Krabbe disease	semapv:ManualMappingCuration
MONDO:0016091	adult Krabbe disease	oboInOwl:hasDbXref	Orphanet:206448	Adult Krabbe disease	semapv:ManualMappingCuration
MONDO:0016092	serous or mucinous cystadenoma of childhood	oboInOwl:hasDbXref	Orphanet:206470	Cystadenoma of childhood	semapv:ManualMappingCuration
MONDO:0016093	borderline epithelial tumor of ovary	oboInOwl:hasDbXref	Orphanet:206473	OBSOLETE: Borderline epithelial tumor of ovary	semapv:ManualMappingCuration
MONDO:0016094	vaginal germ cell malignant tumor	oboInOwl:hasDbXref	Orphanet:206489	Malignant germ cell tumor of the vagina	semapv:ManualMappingCuration
MONDO:0016095	vaginal rhabdomyosarcoma	oboInOwl:hasDbXref	Orphanet:206492	Vulvovaginal rhabdomyosarcoma	semapv:ManualMappingCuration
MONDO:0016096	malignant non-dysgerminomatous germ cell tumor of ovary	oboInOwl:hasDbXref	Orphanet:206538	Malignant non-dysgerminomatous germ cell tumor of ovary	semapv:ManualMappingCuration
MONDO:0016097	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	oboInOwl:hasDbXref	Orphanet:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	semapv:ManualMappingCuration
MONDO:0016098	immune-mediated necrotizing myopathy	oboInOwl:hasDbXref	Orphanet:206569	Immune-mediated necrotizing myopathy	semapv:ManualMappingCuration
MONDO:0016099	overlap myositis	oboInOwl:hasDbXref	Orphanet:206572	Overlap myositis	semapv:ManualMappingCuration
MONDO:0016100	rippling muscle disease with myasthenia gravis	oboInOwl:hasDbXref	Orphanet:206575	Rippling muscle disease with myasthenia gravis	semapv:ManualMappingCuration
MONDO:0016101	neurolymphomatosis	oboInOwl:hasDbXref	Orphanet:206586	Neurolymphomatosis	semapv:ManualMappingCuration
MONDO:0016102	subacute inflammatory demyelinating polyneuropathy	oboInOwl:hasDbXref	Orphanet:206594	Subacute inflammatory demyelinating polyneuropathy	semapv:ManualMappingCuration
MONDO:0016103	isolated asymptomatic elevation of creatine phosphokinase	oboInOwl:hasDbXref	Orphanet:206599	Isolated asymptomatic elevation of creatine phosphokinase	semapv:ManualMappingCuration
MONDO:0016104	obsolete infectious disease with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:206613	Infectious disease with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016105	acquired skeletal muscle disease	oboInOwl:hasDbXref	Orphanet:206638	Acquired skeletal muscle disease	semapv:ManualMappingCuration
MONDO:0016106	progressive muscular dystrophy	oboInOwl:hasDbXref	Orphanet:206644	Progressive muscular dystrophy	semapv:ManualMappingCuration
MONDO:0016107	myotonic dystrophy	oboInOwl:hasDbXref	Orphanet:206647	Myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0016108	autosomal dominant distal myopathy	oboInOwl:hasDbXref	Orphanet:206650	Autosomal dominant distal myopathy	semapv:ManualMappingCuration
MONDO:0016109	obsolete autosomal recessive distal myopathy	oboInOwl:hasDbXref	Orphanet:206653	Autosomal recessive distal myopathy	semapv:ManualMappingCuration
MONDO:0016110	obsolete non-dystrophic myopathy	oboInOwl:hasDbXref	Orphanet:206656	Non-dystrophic myopathy	semapv:ManualMappingCuration
MONDO:0016111	obsolete non-dystrophic myopathy with collagen 6 anomaly	oboInOwl:hasDbXref	Orphanet:206659	OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly	semapv:ManualMappingCuration
MONDO:0016112	hereditary inclusion-body myopathy	oboInOwl:hasDbXref	Orphanet:206662	Inclusion myopathy	semapv:ManualMappingCuration
MONDO:0016113	bulbospinal muscular atrophy	oboInOwl:hasDbXref	Orphanet:206701	Bulbospinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0016114	obsolete bulbospinal muscular atrophy of childhood	oboInOwl:hasDbXref	Orphanet:206704	Bulbospinal muscular atrophy of childhood	semapv:ManualMappingCuration
MONDO:0016115	obsolete bulbospinal muscular atrophy of adulthood	oboInOwl:hasDbXref	Orphanet:206707	Bulbospinal muscular atrophy of adult	semapv:ManualMappingCuration
MONDO:0016116	obsolete generalized bulbospinal muscular atrophy	oboInOwl:hasDbXref	Orphanet:206710	Generalized bulbospinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0016117	obsolete muscular lipidosis	oboInOwl:hasDbXref	Orphanet:206953	Muscular lipidosis	semapv:ManualMappingCuration
MONDO:0016118	obsolete muscular glycogenosis	oboInOwl:hasDbXref	Orphanet:206959	Muscular glycogenosis	semapv:ManualMappingCuration
MONDO:0016120	myotonic syndrome	oboInOwl:hasDbXref	Orphanet:206970	Myotonic syndrome	semapv:ManualMappingCuration
MONDO:0016121	obsolete congenital myotonia	oboInOwl:hasDbXref	Orphanet:206973	Congenital myotonia	semapv:ManualMappingCuration
MONDO:0016122	periodic paralysis	oboInOwl:hasDbXref	Orphanet:206976	Periodic paralysis	semapv:ManualMappingCuration
MONDO:0016123	obsolete muscular tumor	oboInOwl:hasDbXref	Orphanet:206982	Muscular tumor	semapv:ManualMappingCuration
MONDO:0016124	obsolete drug and/or toxic myopathy	oboInOwl:hasDbXref	Orphanet:206985	OBSOLETE: Drug and/or toxic myopathy	semapv:ManualMappingCuration
MONDO:0016125	obsolete infectious, fungal or parasitic myopathy	oboInOwl:hasDbXref	Orphanet:206988	Infectious, fungal or parasitic myopathy	semapv:ManualMappingCuration
MONDO:0016126	viral myositis	oboInOwl:hasDbXref	Orphanet:206991	Viral myositis	semapv:ManualMappingCuration
MONDO:0016127	bacterial myositis	oboInOwl:hasDbXref	Orphanet:206994	Bacterial myositis	semapv:ManualMappingCuration
MONDO:0016128	parasitic myositis	oboInOwl:hasDbXref	Orphanet:206997	Parasitic myositis	semapv:ManualMappingCuration
MONDO:0016129	eosinophilic gastroenteritis	oboInOwl:hasDbXref	Orphanet:2070	Eosinophilic gastroenteritis	semapv:ManualMappingCuration
MONDO:0016130	fungal myositis	oboInOwl:hasDbXref	Orphanet:207000	Fungal myositis	semapv:ManualMappingCuration
MONDO:0016131	obsolete spinal muscular atrophy associated with central nervous system anomaly	oboInOwl:hasDbXref	Orphanet:207012	Spinal muscular atrophy associated with central nervous system anomaly	semapv:ManualMappingCuration
MONDO:0016132	obsolete rare hereditary disease with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:207015	Rare hereditary disease with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016133	obsolete rare hereditary metabolic disease with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:207018	Rare hereditary metabolic disease with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016134	obsolete rare hereditary systemic disease with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:207021	Rare hereditary systemic disease with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016135	obsolete rare hereditary neurologic disease with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:207025	Rare hereditary neurologic disease with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016136	obsolete cerebellar ataxia with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:207028	Cerebellar ataxia with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016137	obsolete acute and subacute inflammatory demyelinating polyneuropathy	oboInOwl:hasDbXref	Orphanet:207038	Acute and subacute inflammatory demyelinating polyneuropathy	semapv:ManualMappingCuration
MONDO:0016138	obsolete malignant lymphoma with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:207046	Malignant lymphoma with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016139	qualitative or quantitative protein defects in neuromuscular diseases	oboInOwl:hasDbXref	Orphanet:207049	Qualitative or quantitative protein defects in neuromuscular diseases	semapv:ManualMappingCuration
MONDO:0016140	sarcoglycanopathy	oboInOwl:hasDbXref	Orphanet:207052	Qualitative or quantitative defects of sarcoglycan	semapv:ManualMappingCuration
MONDO:0016141	qualitative or quantitative defects of alpha-sarcoglycan	oboInOwl:hasDbXref	Orphanet:207060	Qualitative or quantitative defects of alpha-sarcoglycan	semapv:ManualMappingCuration
MONDO:0016142	qualitative or quantitative defects of beta-sarcoglycan	oboInOwl:hasDbXref	Orphanet:207063	Qualitative or quantitative defects of beta-sarcoglycan	semapv:ManualMappingCuration
MONDO:0016143	qualitative or quantitative defects of gamma-sarcoglycan	oboInOwl:hasDbXref	Orphanet:207067	Qualitative or quantitative defects of gamma-sarcoglycan	semapv:ManualMappingCuration
MONDO:0016144	qualitative or quantitative defects of delta-sarcoglycan	oboInOwl:hasDbXref	Orphanet:207070	Qualitative or quantitative defects of delta-sarcoglycan	semapv:ManualMappingCuration
MONDO:0016145	qualitative or quantitative defects of dysferlin	oboInOwl:hasDbXref	Orphanet:207073	Qualitative or quantitative defects of dysferlin	semapv:ManualMappingCuration
MONDO:0016146	caveolinopathy	oboInOwl:hasDbXref	Orphanet:207078	Qualitative or quantitative defects of caveolin-3	semapv:ManualMappingCuration
MONDO:0016147	qualitative or quantitative defects of dystrophin	oboInOwl:hasDbXref	Orphanet:207085	Qualitative or quantitative defects of dystrophin	semapv:ManualMappingCuration
MONDO:0016149	obsolete qualitative or quantitative defects of merosin	oboInOwl:hasDbXref	Orphanet:207094	Laminin subunit alpha 2-related muscular dystrophy	semapv:ManualMappingCuration
MONDO:0016150	obsolete qualitative or quantitative defects of integrin alpha-7	oboInOwl:hasDbXref	Orphanet:207098	Qualitative or quantitative defects of integrin alpha-7	semapv:ManualMappingCuration
MONDO:0016151	qualitative or quantitative defects of perlecan	oboInOwl:hasDbXref	Orphanet:207101	Qualitative or quantitative defects of perlecan	semapv:ManualMappingCuration
MONDO:0016152	obsolete qualitative or quantitative defects of calpain	oboInOwl:hasDbXref	Orphanet:207104	Qualitative or quantitative defects of calpain	semapv:ManualMappingCuration
MONDO:0016153	qualitative or quantitative defects of TRIM32	oboInOwl:hasDbXref	Orphanet:207107	Qualitative or quantitative defects of TRIM32	semapv:ManualMappingCuration
MONDO:0016154	obsolete qualitative or quantitative defects of myotubularin	oboInOwl:hasDbXref	Orphanet:207110	Qualitative or quantitative defects of myotubularin	semapv:ManualMappingCuration
MONDO:0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	oboInOwl:hasDbXref	Orphanet:207113	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	semapv:ManualMappingCuration
MONDO:0016156	qualitative or quantitative defects of FKRP	oboInOwl:hasDbXref	Orphanet:207119	Qualitative or quantitative defects of FKRP	semapv:ManualMappingCuration
MONDO:0016157	obsolete qualitative or quantitative defects of fukutin	oboInOwl:hasDbXref	Orphanet:207122	Qualitative or quantitative defects of fukutin	semapv:ManualMappingCuration
MONDO:0016158	narcolepsy-cataplexy syndrome	oboInOwl:hasDbXref	Orphanet:2073	Narcolepsy type 1	semapv:ManualMappingCuration
MONDO:0016159	Gemignani syndrome	oboInOwl:hasDbXref	Orphanet:2074	Gemignani syndrome	semapv:ManualMappingCuration
MONDO:0016160	X-linked intellectual disability-epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:2076	X-linked intellectual disability-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0016161	cerebral gigantism-jaw cysts syndrome	oboInOwl:hasDbXref	Orphanet:2081	Cerebral gigantism-jaw cysts syndrome	semapv:ManualMappingCuration
MONDO:0016162	bilateral frontal polymicrogyria	oboInOwl:hasDbXref	Orphanet:208444	Bilateral frontal polymicrogyria	semapv:ManualMappingCuration
MONDO:0016163	spinocerebellar ataxia 7	oboInOwl:hasDbXref	Orphanet:208508	Autosomal dominant cerebellar ataxia type II	semapv:ManualMappingCuration
MONDO:0016163	spinocerebellar ataxia 7	oboInOwl:hasDbXref	Orphanet:94147	Spinocerebellar ataxia type 7	semapv:ManualMappingCuration
MONDO:0016164	herpetiform pemphigus	oboInOwl:hasDbXref	Orphanet:208524	Herpetiform pemphigus	semapv:ManualMappingCuration
MONDO:0016165	hereditary hypoparathyroidism	oboInOwl:hasDbXref	Orphanet:208593	Genetic hypoparathyroidism	semapv:ManualMappingCuration
MONDO:0016166	hereditary hyperparathyroidism	oboInOwl:hasDbXref	Orphanet:208596	Genetic hyperparathyroidism	semapv:ManualMappingCuration
MONDO:0016167	optic pathway glioma	oboInOwl:hasDbXref	Orphanet:2086	Optic pathway glioma	semapv:ManualMappingCuration
MONDO:0016168	cryopyrin-associated periodic syndrome	oboInOwl:hasDbXref	Orphanet:208650	NLRP3-associated autoinflammatory disease	semapv:ManualMappingCuration
MONDO:0016169	obsolete chronic acquired demyelinating polyneuropathy	oboInOwl:hasDbXref	Orphanet:208974	Chronic acquired demyelinating polyneuropathy	semapv:ManualMappingCuration
MONDO:0016170	obsolete chronic polyradiculoneuropathy	oboInOwl:hasDbXref	Orphanet:208978	Chronic polyradiculoneuropathy	semapv:ManualMappingCuration
MONDO:0016171	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	oboInOwl:hasDbXref	Orphanet:208981	OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	semapv:ManualMappingCuration
MONDO:0016172	obsolete acquired sensory ganglionopathy	oboInOwl:hasDbXref	Orphanet:208984	Acquired sensory ganglionopathy	semapv:ManualMappingCuration
MONDO:0016173	obsolete non-paraneoplastic sensory ganglionopathy	oboInOwl:hasDbXref	Orphanet:208989	Non-paraneoplastic sensory ganglionopathy	semapv:ManualMappingCuration
MONDO:0016174	obsolete paraneoplastic sensory ganglionopathy	oboInOwl:hasDbXref	Orphanet:208999	Paraneoplastic sensory ganglionopathy	semapv:ManualMappingCuration
MONDO:0016175	cutis laxa	oboInOwl:hasDbXref	Orphanet:209	Cutis laxa	semapv:ManualMappingCuration
MONDO:0016176	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	oboInOwl:hasDbXref	Orphanet:209004	Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	semapv:ManualMappingCuration
MONDO:0016177	obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:209007	Systemic inflammatory disease associated with an acquired peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016178	obsolete peripheral neuropathy associated with monoclonal gammopathy	oboInOwl:hasDbXref	Orphanet:209010	Peripheral neuropathy associated with monoclonal gammopathy	semapv:ManualMappingCuration
MONDO:0016179	obsolete acquired amyloid peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:209013	Acquired amyloid peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016180	obsolete hematological disease associated with an acquired peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:209016	Hematological disease associated with an acquired peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016181	obsolete solid tumor associated with an acquired peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:209019	Solid tumor associated with an acquired peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016182	obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase	oboInOwl:hasDbXref	Orphanet:209024	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	semapv:ManualMappingCuration
MONDO:0016183	obsolete qualitative or quantitative defects of protein glycosyltransferase-like	oboInOwl:hasDbXref	Orphanet:209027	Qualitative or quantitative defects of protein glycosyltransferase-like	semapv:ManualMappingCuration
MONDO:0016184	qualitative or quantitative defects of protein O-mannosyltransferase 1	oboInOwl:hasDbXref	Orphanet:209030	Qualitative or quantitative defects of protein O-mannosyltransferase 1	semapv:ManualMappingCuration
MONDO:0016185	qualitative or quantitative defects of protein O-mannosyltransferase 2	oboInOwl:hasDbXref	Orphanet:209033	Qualitative or quantitative defects of protein O-mannosyltransferase 2	semapv:ManualMappingCuration
MONDO:0016186	qualitative or quantitative defects of myofibrillar proteins	oboInOwl:hasDbXref	Orphanet:209038	Qualitative or quantitative defects of myofibrillar proteins	semapv:ManualMappingCuration
MONDO:0016187	qualitative or quantitative defects of desmin	oboInOwl:hasDbXref	Orphanet:209041	Qualitative or quantitative defects of desmin	semapv:ManualMappingCuration
MONDO:0016188	qualitative or quantitative defects of alphaB-cristallin	oboInOwl:hasDbXref	Orphanet:209044	Qualitative or quantitative defects of alphaB-cristallin	semapv:ManualMappingCuration
MONDO:0016189	qualitative or quantitative defects of filamin C	oboInOwl:hasDbXref	Orphanet:209047	Qualitative or quantitative defects of filamin C	semapv:ManualMappingCuration
MONDO:0016190	qualitative or quantitative defects of protein ZASP	oboInOwl:hasDbXref	Orphanet:209050	Qualitative or quantitative defects of protein ZASP	semapv:ManualMappingCuration
MONDO:0016191	qualitative or quantitative defects of titin	oboInOwl:hasDbXref	Orphanet:209053	Qualitative or quantitative defects of titin	semapv:ManualMappingCuration
MONDO:0016192	qualitative or quantitative defects of telethonin	oboInOwl:hasDbXref	Orphanet:209056	Qualitative or quantitative defects of telethonin	semapv:ManualMappingCuration
MONDO:0016193	qualitative or quantitative defects of alpha-actin	oboInOwl:hasDbXref	Orphanet:209059	Qualitative or quantitative defects of alpha-actin	semapv:ManualMappingCuration
MONDO:0016194	qualitative or quantitative defects of nebulin	oboInOwl:hasDbXref	Orphanet:209182	Qualitative or quantitative defects of nebulin	semapv:ManualMappingCuration
MONDO:0016195	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	oboInOwl:hasDbXref	Orphanet:209185	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	semapv:ManualMappingCuration
MONDO:0016196	obsolete qualitative or quantitative defects of emerin	oboInOwl:hasDbXref	Orphanet:209188	Qualitative or quantitative defects of emerin	semapv:ManualMappingCuration
MONDO:0016197	qualitative or quantitative defects of selenoprotein N1	oboInOwl:hasDbXref	Orphanet:209193	Qualitative or quantitative defects of selenoprotein N1	semapv:ManualMappingCuration
MONDO:0016198	qualitative or quantitative defects of plectin	oboInOwl:hasDbXref	Orphanet:209196	Qualitative or quantitative defects of plectin	semapv:ManualMappingCuration
MONDO:0016199	qualitative or quantitative defects of protein SERCA1	oboInOwl:hasDbXref	Orphanet:209199	Qualitative or quantitative defects of protein SERCA1	semapv:ManualMappingCuration
MONDO:0016200	obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	oboInOwl:hasDbXref	Orphanet:209203	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	semapv:ManualMappingCuration
MONDO:0016201	obsolete qualitative or quantitative defects of myotilin	oboInOwl:hasDbXref	Orphanet:209224	Myotilinopathy	semapv:ManualMappingCuration
MONDO:0016202	autosomal dominant rhegmatogenous retinal detachment	oboInOwl:hasDbXref	Orphanet:209867	Autosomal dominant rhegmatogenous retinal detachment	semapv:ManualMappingCuration
MONDO:0016203	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	oboInOwl:hasDbXref	Orphanet:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	semapv:ManualMappingCuration
MONDO:0016204	idiopathic copper-associated cirrhosis	oboInOwl:hasDbXref	Orphanet:209919	Idiopathic copper-associated cirrhosis	semapv:ManualMappingCuration
MONDO:0016205	IRVAN syndrome	oboInOwl:hasDbXref	Orphanet:209943	IRVAN syndrome	semapv:ManualMappingCuration
MONDO:0016206	idiopathic uveal effusion syndrome	oboInOwl:hasDbXref	Orphanet:209956	Idiopathic uveal effusion syndrome	semapv:ManualMappingCuration
MONDO:0016207	phacoanaphylactic uveitis	oboInOwl:hasDbXref	Orphanet:209959	Phacoanaphylactic uveitis	semapv:ManualMappingCuration
MONDO:0016208	solitary rectal ulcer syndrome	oboInOwl:hasDbXref	Orphanet:209964	Solitary rectal ulcer syndrome	semapv:ManualMappingCuration
MONDO:0016209	benign familial nocturnal alternating hemiplegia of childhood	oboInOwl:hasDbXref	Orphanet:209973	Benign nocturnal alternating hemiplegia of childhood	semapv:ManualMappingCuration
MONDO:0016210	alternating hemiplegia	oboInOwl:hasDbXref	Orphanet:209978	Alternating hemiplegia	semapv:ManualMappingCuration
MONDO:0016211	non-papillary transitional cell carcinoma of the bladder	oboInOwl:hasDbXref	Orphanet:209989	Non-papillary transitional cell carcinoma of the bladder	semapv:ManualMappingCuration
MONDO:0016213	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	oboInOwl:hasDbXref	Orphanet:210133	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	semapv:ManualMappingCuration
MONDO:0016214	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0016215	spastic quadriplegic cerebral palsy	oboInOwl:hasDbXref	Orphanet:210141	Inherited congenital spastic tetraplegia	semapv:ManualMappingCuration
MONDO:0016216	adult hepatocellular carcinoma	oboInOwl:hasDbXref	Orphanet:210159	Adult hepatocellular carcinoma	semapv:ManualMappingCuration
MONDO:0016217	mal de Debarquement	oboInOwl:hasDbXref	Orphanet:210272	Mal de débarquement	semapv:ManualMappingCuration
MONDO:0016218	Guillain-Barre syndrome	oboInOwl:hasDbXref	Orphanet:2103	Guillain-Barré syndrome	semapv:ManualMappingCuration
MONDO:0016219	dysmorphism-pectus carinatum-joint laxity syndrome	oboInOwl:hasDbXref	Orphanet:2104	Dysmorphism-pectus carinatum-joint laxity syndrome	semapv:ManualMappingCuration
MONDO:0016220	congenital temporomandibular joint ankylosis	oboInOwl:hasDbXref	Orphanet:210576	Congenital temporomandibular joint ankylosis	semapv:ManualMappingCuration
MONDO:0016221	obsolete temporomandibular joint anomaly	oboInOwl:hasDbXref	Orphanet:210581	Temporomandibular joint anomaly	semapv:ManualMappingCuration
MONDO:0016222	spindle cell hemangioma	oboInOwl:hasDbXref	Orphanet:210584	Spindle cell hemangioma	semapv:ManualMappingCuration
MONDO:0016223	infantile hemangioma of rare localization	oboInOwl:hasDbXref	Orphanet:210589	Rare infantile hemangioma	semapv:ManualMappingCuration
MONDO:0016224	obsolete autosomal dominant proximal spinal muscular atrophy	oboInOwl:hasDbXref	Orphanet:211037	Autosomal dominant proximal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0016225	specific learning disability	oboInOwl:hasDbXref	Orphanet:211047	Specific learning disability	semapv:ManualMappingCuration
MONDO:0016226	specific language disorder	oboInOwl:hasDbXref	Orphanet:211053	Specific language disorder	semapv:ManualMappingCuration
MONDO:0016227	hereditary episodic ataxia	oboInOwl:hasDbXref	Orphanet:211062	Hereditary episodic ataxia	semapv:ManualMappingCuration
MONDO:0016228	obsolete rare vascular tumor	oboInOwl:hasDbXref	Orphanet:211237	Rare vascular tumor	semapv:ManualMappingCuration
MONDO:0016229	obsolete hereditary vascular anomaly	oboInOwl:hasDbXref	Orphanet:211240	Genetic vascular anomaly	semapv:ManualMappingCuration
MONDO:0016230	obsolete simple vascular malformation	oboInOwl:hasDbXref	Orphanet:211243	Simple vascular malformation	semapv:ManualMappingCuration
MONDO:0016231	capillary malformation	oboInOwl:hasDbXref	Orphanet:211247	Rare capillary malformation	semapv:ManualMappingCuration
MONDO:0016232	obsolete rare venous malformation	oboInOwl:hasDbXref	Orphanet:211252	Rare venous malformation	semapv:ManualMappingCuration
MONDO:0016233	obsolete rare lymphatic system malformation	oboInOwl:hasDbXref	Orphanet:211255	Rare lymphatic system anomaly	semapv:ManualMappingCuration
MONDO:0016234	obsolete rare arteriovenous malformation	oboInOwl:hasDbXref	Orphanet:211266	Rare arteriovenous malformation	semapv:ManualMappingCuration
MONDO:0016235	obsolete complex vascular malformation with associated anomalies	oboInOwl:hasDbXref	Orphanet:211277	Complex vascular malformation with associated anomalies	semapv:ManualMappingCuration
MONDO:0016236	kaposiform hemangioendothelioma	oboInOwl:hasDbXref	Orphanet:2122	Kaposiform hemangioendothelioma	semapv:ManualMappingCuration
MONDO:0016237	diffuse neonatal hemangiomatosis	oboInOwl:hasDbXref	Orphanet:2123	Multifocal infantile hemangioma with extracutenous involvement	semapv:ManualMappingCuration
MONDO:0016238	solitary fibrous tumor	oboInOwl:hasDbXref	Orphanet:2126	Solitary fibrous tumor	semapv:ManualMappingCuration
MONDO:0016239	cystinosis	oboInOwl:hasDbXref	Orphanet:213	Cystinosis	semapv:ManualMappingCuration
MONDO:0016240	hemimelia	oboInOwl:hasDbXref	Orphanet:2130	Non-syndromic hemimelia	semapv:ManualMappingCuration
MONDO:0016241	alternating hemiplegia of childhood	oboInOwl:hasDbXref	Orphanet:2131	Alternating hemiplegia of childhood	semapv:ManualMappingCuration
MONDO:0016242	hemoglobin C disease	oboInOwl:hasDbXref	Orphanet:2132	Hemoglobin C disease	semapv:ManualMappingCuration
MONDO:0016243	hemoglobin E disease	oboInOwl:hasDbXref	Orphanet:2133	Hemoglobin E disease	semapv:ManualMappingCuration
MONDO:0016244	atypical hemolytic-uremic syndrome	oboInOwl:hasDbXref	Orphanet:2134	Atypical hemolytic uremic syndrome	semapv:ManualMappingCuration
MONDO:0016248	familial ovarian cancer	oboInOwl:hasDbXref	Orphanet:213517	OBSOLETE: Familial ovarian cancer	semapv:ManualMappingCuration
MONDO:0016249	hereditary site-specific ovarian cancer syndrome	oboInOwl:hasDbXref	Orphanet:213524	Hereditary site-specific ovarian cancer syndrome	semapv:ManualMappingCuration
MONDO:0016250	obsolete rare adenocarcinoma of the breast	oboInOwl:hasDbXref	Orphanet:213528	Rare adenocarcinoma of the breast	semapv:ManualMappingCuration
MONDO:0016252	obsolete rare uterine cancer	oboInOwl:hasDbXref	Orphanet:213564	Rare uterine cancer	semapv:ManualMappingCuration
MONDO:0016253	obsolete rare cancer of corpus uteri	oboInOwl:hasDbXref	Orphanet:213569	Rare cancer of corpus uteri	semapv:ManualMappingCuration
MONDO:0016254	obsolete rare variants of adenocarcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213574	OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016255	uterine corpus mixed epithelial and mesenchymal neoplasm	oboInOwl:hasDbXref	Orphanet:213589	Malignant mixed epithelial and mesenchymal tumor of corpus uteri	semapv:ManualMappingCuration
MONDO:0016256	Hennekam syndrome	oboInOwl:hasDbXref	Orphanet:2136	Hennekam syndrome	semapv:ManualMappingCuration
MONDO:0016258	uterine corpus carcinofibroma	oboInOwl:hasDbXref	Orphanet:213605	Carcinofibroma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016259	carcinosarcoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213610	Carcinosarcoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016260	uterine corpus rhabdomyosarcoma	oboInOwl:hasDbXref	Orphanet:213615	Rhabdomyosarcoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016262	leiomyosarcoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213625	Leiomyosarcoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016263	primitive neuroectodermal tumor of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213630	Primitive neuroectodermal tumor of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016264	autoimmune hepatitis	oboInOwl:hasDbXref	Orphanet:2137	Autoimmune hepatitis	semapv:ManualMappingCuration
MONDO:0016266	squamous cell carcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213716	Squamous cell carcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016267	undifferentiated carcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213721	Undifferentiated carcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016268	papillary carcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213726	Serous carcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016269	high-grade neuroendocrine carcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213731	High-grade neuroendocrine carcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016270	low-grade neuroendocrine tumor of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213736	Low-grade neuroendocrine tumor of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016271	adenoid cystic carcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213741	OBSOLETE: Adenoid cystic carcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016272	transitional cell carcinoma of the corpus uteri	oboInOwl:hasDbXref	Orphanet:213746	Transitional cell carcinoma of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016273	malignant germ cell tumor of corpus uteri	oboInOwl:hasDbXref	Orphanet:213751	Malignant germ cell tumor of the corpus uteri	semapv:ManualMappingCuration
MONDO:0016274	obsolete rare cancer of cervix uteri	oboInOwl:hasDbXref	Orphanet:213761	Rare cancer of cervix uteri	semapv:ManualMappingCuration
MONDO:0016276	high-grade neuroendocrine carcinoma of the cervix uteri	oboInOwl:hasDbXref	Orphanet:213777	High-grade neuroendocrine carcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0016277	malignant mixed epithelial and mesenchymal tumor of cervix uteri	oboInOwl:hasDbXref	Orphanet:213782	Malignant mixed epithelial and mesenchymal tumor of cervix uteri	semapv:ManualMappingCuration
MONDO:0016280	sarcoma of cervix uteri	oboInOwl:hasDbXref	Orphanet:213797	Sarcoma of cervix uteri	semapv:ManualMappingCuration
MONDO:0016281	46,XX ovotesticular disorder of sex development	oboInOwl:hasDbXref	Orphanet:2138	46,XX ovotesticular difference of sex development	semapv:ManualMappingCuration
MONDO:0016282	rhabdomyosarcoma of the cervix uteri	oboInOwl:hasDbXref	Orphanet:213802	Rhabdomyosarcoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0016283	leiomyosarcoma of the cervix uteri	oboInOwl:hasDbXref	Orphanet:213807	Leiomyosarcoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0016284	primitive neuroectodermal tumor of the cervix uteri	oboInOwl:hasDbXref	Orphanet:213812	Primitive neuroectodermal tumor of the cervix uteri	semapv:ManualMappingCuration
MONDO:0016285	papillary carcinoma of the cervix uteri	oboInOwl:hasDbXref	Orphanet:213817	OBSOLETE: Papillary carcinoma of the cervix uteri	semapv:ManualMappingCuration
MONDO:0016289	malignant germ cell tumor of cervix uteri	oboInOwl:hasDbXref	Orphanet:213837	Malignant germ cell tumor of the cervix uteri	semapv:ManualMappingCuration
MONDO:0016290	Hernández-Aguirre Negrete syndrome	oboInOwl:hasDbXref	Orphanet:2139	Hernández-Aguirre Negrete syndrome	semapv:ManualMappingCuration
MONDO:0016291	craniosynostosis, Herrmann-Opitz type	oboInOwl:hasDbXref	Orphanet:2145	Craniosynostosis, Herrmann-Opitz type	semapv:ManualMappingCuration
MONDO:0016292	nodular neuronal heterotopia	oboInOwl:hasDbXref	Orphanet:2149	Nodular neuronal heterotopia	semapv:ManualMappingCuration
MONDO:0016293	congenital stationary night blindness	oboInOwl:hasDbXref	Orphanet:215	Congenital stationary night blindness	semapv:ManualMappingCuration
MONDO:0016294	Hirschsprung disease-type D brachydactyly syndrome	oboInOwl:hasDbXref	Orphanet:2150	Hirschsprung disease-type D brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0016295	neuronal ceroid lipofuscinosis	oboInOwl:hasDbXref	Orphanet:216	Neuronal ceroid lipofuscinosis	semapv:ManualMappingCuration
MONDO:0016296	holoprosencephaly	oboInOwl:hasDbXref	Orphanet:2162	Holoprosencephaly	semapv:ManualMappingCuration
MONDO:0016297	prelingual non-syndromic genetic hearing loss	oboInOwl:hasDbXref	Orphanet:216445	Prelingual non-syndromic genetic deafness	semapv:ManualMappingCuration
MONDO:0016298	postlingual non-syndromic genetic hearing loss	oboInOwl:hasDbXref	Orphanet:216452	Postlingual non-syndromic genetic deafness	semapv:ManualMappingCuration
MONDO:0016299	holoprosencephaly-caudal dysgenesis syndrome	oboInOwl:hasDbXref	Orphanet:2165	Holoprosencephaly-caudal dysgenesis syndrome	semapv:ManualMappingCuration
MONDO:0016301	congenitally corrected transposition of the great arteries	oboInOwl:hasDbXref	Orphanet:216694	Congenitally corrected transposition of the great arteries	semapv:ManualMappingCuration
MONDO:0016302	isolated congenitally uncorrected transposition of the great arteries	oboInOwl:hasDbXref	Orphanet:216718	Isolated congenitally uncorrected transposition of the great arteries	semapv:ManualMappingCuration
MONDO:0016303	congenitally uncorrected transposition of the great arteries with cardiac malformation	oboInOwl:hasDbXref	Orphanet:216729	Congenitally uncorrected transposition of the great arteries with cardiac malformation	semapv:ManualMappingCuration
MONDO:0016304	classic pantothenate kinase-associated neurodegeneration	oboInOwl:hasDbXref	Orphanet:216866	Classic pantothenate kinase-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0016305	atypical pantothenate kinase-associated neurodegeneration	oboInOwl:hasDbXref	Orphanet:216873	Atypical pantothenate kinase-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0016306	Niemann-Pick disease type C, severe perinatal form	oboInOwl:hasDbXref	Orphanet:216972	Niemann-Pick disease type C, severe perinatal form	semapv:ManualMappingCuration
MONDO:0016307	Niemann-Pick disease type C, severe early infantile neurologic onset	oboInOwl:hasDbXref	Orphanet:216975	Niemann-Pick disease type C, severe early infantile neurologic onset	semapv:ManualMappingCuration
MONDO:0016308	Niemann-Pick disease type C, late infantile neurologic onset	oboInOwl:hasDbXref	Orphanet:216978	Niemann-Pick disease type C, late infantile neurologic onset	semapv:ManualMappingCuration
MONDO:0016309	Niemann-Pick disease type C, juvenile neurologic onset	oboInOwl:hasDbXref	Orphanet:216981	Niemann-Pick disease type C, juvenile neurologic onset	semapv:ManualMappingCuration
MONDO:0016310	Niemann-Pick disease type C, adult neurologic onset	oboInOwl:hasDbXref	Orphanet:216986	Niemann-Pick disease type C, adult neurologic onset	semapv:ManualMappingCuration
MONDO:0016311	Bockenheimer syndrome	oboInOwl:hasDbXref	Orphanet:217008	Bockenheimer syndrome	semapv:ManualMappingCuration
MONDO:0016312	5-fluorouracil poisoning	oboInOwl:hasDbXref	Orphanet:217064	5-fluorouracil poisoning	semapv:ManualMappingCuration
MONDO:0016314	obsolete rare carcinoma of pancreas	oboInOwl:hasDbXref	Orphanet:217074	Rare carcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0016315	mucopolysaccharidosis type 2, severe form	oboInOwl:hasDbXref	Orphanet:217085	Mucopolysaccharidosis type 2, severe form	semapv:ManualMappingCuration
MONDO:0016316	mucopolysaccharidosis type 2, attenuated form	oboInOwl:hasDbXref	Orphanet:217093	Mucopolysaccharidosis type 2, attenuated form	semapv:ManualMappingCuration
MONDO:0016318	progressive multifocal leukoencephalopathy	oboInOwl:hasDbXref	Orphanet:217260	Progressive multifocal leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0016319	congenital insensitivity to pain with hyperhidrosis	oboInOwl:hasDbXref	Orphanet:217399	Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation	semapv:ManualMappingCuration
MONDO:0016320	obsolete rare hereditary thrombophilia	oboInOwl:hasDbXref	Orphanet:217454	Rare hereditary thrombophilia	semapv:ManualMappingCuration
MONDO:0016321	pulmonary interstitial glycogenosis	oboInOwl:hasDbXref	Orphanet:217557	Pulmonary interstitial glycogenosis	semapv:ManualMappingCuration
MONDO:0016322	neuroendocrine cell hyperplasia of infancy	oboInOwl:hasDbXref	Orphanet:217560	Neuroendocrine cell hyperplasia of infancy	semapv:ManualMappingCuration
MONDO:0016323	chronic respiratory distress with surfactant metabolism deficiency	oboInOwl:hasDbXref	Orphanet:217566	Chronic respiratory distress with surfactant metabolism deficiency	semapv:ManualMappingCuration
MONDO:0016325	obsolete glycogen storage disease with hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217572	Glycogen storage disease with hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016326	obsolete lysosomal disease with hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217581	Lysosomal disease with hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016327	obsolete mitochondrial disease with hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217587	Mitochondrial disease with hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016328	obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217591	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016330	non-familial hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217598	Non-familial hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016331	infantile systemic hyalinosis	oboInOwl:hasDbXref	Orphanet:2176	Infantile systemic hyalinosis	semapv:ManualMappingCuration
MONDO:0016332	hypertrophic cardiomyopathy due to intensive athletic training	oboInOwl:hasDbXref	Orphanet:217601	OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training	semapv:ManualMappingCuration
MONDO:0016333	familial dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217607	Familial dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016334	obsolete neuromuscular disease with dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217610	Neuromuscular disease with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016335	obsolete mitochondrial disease with dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217613	Mitochondrial disease with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016336	obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217616	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016337	obsolete syndrome associated with dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217619	Syndrome associated with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016338	non-familial dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217629	Non-familial dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016340	familial restrictive cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217635	Familial restrictive cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016341	obsolete lysosomal disease with restrictive cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217638	Lysosomal disease with restrictive cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016342	familial isolated arrhythmogenic right ventricular dysplasia	oboInOwl:hasDbXref	Orphanet:217656	Inherited isolated arrhythmogenic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016343	obsolete unclassified cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217678	Unclassified cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016344	hydranencephaly	oboInOwl:hasDbXref	Orphanet:2177	Hydranencephaly	semapv:ManualMappingCuration
MONDO:0016345	non-familial restrictive cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217720	Non-familial restrictive cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016346	hydrocephalus-obesity-hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:2183	Hydrocephalus-obesity-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0016347	obsolete rare cardiac rhythm disease	oboInOwl:hasDbXref	Orphanet:218436	Rare cardiac rhythm disease	semapv:ManualMappingCuration
MONDO:0016348	obsolete non-genetic cardiac rhythm disease	oboInOwl:hasDbXref	Orphanet:218439	Non-genetic cardiac rhythm disease	semapv:ManualMappingCuration
MONDO:0016349	congenital hydrocephalus	oboInOwl:hasDbXref	Orphanet:2185	Congenital hydrocephalus	semapv:ManualMappingCuration
MONDO:0016350	hydrocephalus-blue sclerae-nephropathy syndrome	oboInOwl:hasDbXref	Orphanet:2186	Hydrocephalus-blue sclerae-nephropathy syndrome	semapv:ManualMappingCuration
MONDO:0016351	anti-HLA hyperimmunization	oboInOwl:hasDbXref	Orphanet:2194	OBSOLETE: Anti-HLA hyperimmunization	semapv:ManualMappingCuration
MONDO:0016352	obsolete idiopathic inherited hypercalciuria	oboInOwl:hasDbXref	Orphanet:2197	Idiopathic hypercalciuria	semapv:ManualMappingCuration
MONDO:0016353	palmoplantar keratoderma-spastic paralysis syndrome	oboInOwl:hasDbXref	Orphanet:2201	Palmoplantar keratoderma-spastic paralysis syndrome	semapv:ManualMappingCuration
MONDO:0016354	xeroderma pigmentosum-Cockayne syndrome complex	oboInOwl:hasDbXref	Orphanet:220295	Xeroderma pigmentosum-Cockayne syndrome complex	semapv:ManualMappingCuration
MONDO:0016355	obsolete semilobar holoprosencephaly	oboInOwl:hasDbXref	Orphanet:220386	Semilobar holoprosencephaly	semapv:ManualMappingCuration
MONDO:0016356	diffuse cutaneous systemic sclerosis	oboInOwl:hasDbXref	Orphanet:220393	Diffuse cutaneous systemic sclerosis	semapv:ManualMappingCuration
MONDO:0016357	dysplastic cortical hyperostosis	oboInOwl:hasDbXref	Orphanet:646139	Dysplastic cortical hyperostosis	semapv:ManualMappingCuration
MONDO:0016358	limited cutaneous systemic sclerosis	oboInOwl:hasDbXref	Orphanet:220402	Limited cutaneous systemic sclerosis	semapv:ManualMappingCuration
MONDO:0016359	limited systemic sclerosis	oboInOwl:hasDbXref	Orphanet:220407	Limited systemic sclerosis	semapv:ManualMappingCuration
MONDO:0016360	marcothrombocytopenia with mitral valve insufficiency	oboInOwl:hasDbXref	Orphanet:220448	Macrothrombocytopenia with mitral valve insufficiency	semapv:ManualMappingCuration
MONDO:0016361	obsolete isolated hereditary giant platelet disorder	oboInOwl:hasDbXref	Orphanet:220452	Isolated hereditary giant platelet disorder	semapv:ManualMappingCuration
MONDO:0016362	attenuated familial adenomatous polyposis	oboInOwl:hasDbXref	Orphanet:220460	Attenuated familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0016363	obsolete rare hereditary hemochromatosis	oboInOwl:hasDbXref	Orphanet:220489	Rare hereditary hemochromatosis	semapv:ManualMappingCuration
MONDO:0016364	Joubert syndrome with ocular defect	oboInOwl:hasDbXref	Orphanet:220493	Joubert syndrome with ocular defect	semapv:ManualMappingCuration
MONDO:0016365	familial primary hyperparathyroidism	oboInOwl:hasDbXref	Orphanet:2207	Familial primary hyperparathyroidism	semapv:ManualMappingCuration
MONDO:0016366	maternal phenylketonuria	oboInOwl:hasDbXref	Orphanet:2209	Maternal phenylketonuria	semapv:ManualMappingCuration
MONDO:0016367	dermatomyositis	oboInOwl:hasDbXref	Orphanet:221	Dermatomyositis	semapv:ManualMappingCuration
MONDO:0016368	Rothmund-Thomson syndrome type 1	oboInOwl:hasDbXref	Orphanet:221008	Rothmund-Thomson syndrome type 1	semapv:ManualMappingCuration
MONDO:0016369	Rothmund-Thomson syndrome type 2	oboInOwl:hasDbXref	Orphanet:221016	Rothmund-Thomson syndrome type 2	semapv:ManualMappingCuration
MONDO:0016370	Marchiafava-Bignami disease	oboInOwl:hasDbXref	Orphanet:221074	Marchiafava-Bignami disease	semapv:ManualMappingCuration
MONDO:0016371	combined hyperactive dysfunction syndrome of the cranial nerves	oboInOwl:hasDbXref	Orphanet:221078	Combined hyperactive dysfunction syndrome of the cranial nerves	semapv:ManualMappingCuration
MONDO:0016372	glossopharyngeal neuralgia	oboInOwl:hasDbXref	Orphanet:221098	Glossopharyngeal neuralgia	semapv:ManualMappingCuration
MONDO:0016373	isolated facial myokymia	oboInOwl:hasDbXref	Orphanet:221106	OBSOLETE: Isolated facial myokymia	semapv:ManualMappingCuration
MONDO:0016374	cranial neuralgia	oboInOwl:hasDbXref	Orphanet:221109	Cranial neuralgia	semapv:ManualMappingCuration
MONDO:0016375	obsolete acquired peripheral movement disorder	oboInOwl:hasDbXref	Orphanet:221114	Acquired peripheral movement disorder	semapv:ManualMappingCuration
MONDO:0016376	confetti-like macular atrophy	oboInOwl:hasDbXref	Orphanet:221142	Confetti-like macular atrophy	semapv:ManualMappingCuration
MONDO:0016377	Pitt-Hopkins-like syndrome	oboInOwl:hasDbXref	Orphanet:221150	OBSOLETE: Pitt-Hopkins-like syndrome	semapv:ManualMappingCuration
MONDO:0016378	maternal hyperthermia induced birth defects	oboInOwl:hasDbXref	Orphanet:2216	Maternal hyperthermia-induced birth defects	semapv:ManualMappingCuration
MONDO:0016379	erosive pustular dermatosis of the scalp	oboInOwl:hasDbXref	Orphanet:222	Erosive pustular dermatosis of the scalp	semapv:ManualMappingCuration
MONDO:0016380	acquired hypertrichosis lanuginosa	oboInOwl:hasDbXref	Orphanet:2221	Acquired hypertrichosis lanuginosa	semapv:ManualMappingCuration
MONDO:0016381	hypertrichosis lanuginosa congenita	oboInOwl:hasDbXref	Orphanet:2222	Hypertrichosis lanuginosa congenita	semapv:ManualMappingCuration
MONDO:0016382	hereditary poikiloderma	oboInOwl:hasDbXref	Orphanet:222628	Hereditary poikiloderma	semapv:ManualMappingCuration
MONDO:0016383	nephrogenic diabetes insipidus	oboInOwl:hasDbXref	Orphanet:223	Arginine vasopressin resistance	semapv:ManualMappingCuration
MONDO:0016384	hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	oboInOwl:hasDbXref	Orphanet:2230	Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	semapv:ManualMappingCuration
MONDO:0016385	hypogonadism-mitral valve prolapse-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2233	Hypogonadism-mitral valve prolapse-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0016386	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:2235	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0016387	mitochondrial oxidative phosphorylation disorder	oboInOwl:hasDbXref	Orphanet:223713	Mitochondrial oxidative phosphorylation disorder	semapv:ManualMappingCuration
MONDO:0016390	familial hypoparathyroidism	oboInOwl:hasDbXref	Orphanet:2238	Familial isolated hypoparathyroidism	semapv:ManualMappingCuration
MONDO:0016391	neonatal diabetes mellitus	oboInOwl:hasDbXref	Orphanet:224	Neonatal diabetes mellitus	semapv:ManualMappingCuration
MONDO:0016392	cerebellar hypoplasia-tapetoretinal degeneration syndrome	oboInOwl:hasDbXref	Orphanet:2246	Cerebellar hypoplasia-tapetoretinal degeneration syndrome	semapv:ManualMappingCuration
MONDO:0016394	sporadic infantile bilateral striatal necrosis	oboInOwl:hasDbXref	Orphanet:225147	Sporadic infantile bilateral striatal necrosis	semapv:ManualMappingCuration
MONDO:0016395	foveal hypoplasia-presenile cataract syndrome	oboInOwl:hasDbXref	Orphanet:2253	Foveal hypoplasia-presenile cataract syndrome	semapv:ManualMappingCuration
MONDO:0016396	pontocerebellar hypoplasia type 1	oboInOwl:hasDbXref	Orphanet:2254	Pontocerebellar hypoplasia type 1	semapv:ManualMappingCuration
MONDO:0016397	obsolete lysosomal disease with epilepsy	oboInOwl:hasDbXref	Orphanet:225681	Lysosomal disease with epilepsy	semapv:ManualMappingCuration
MONDO:0016398	obsolete peroxisomal disease with epilepsy	oboInOwl:hasDbXref	Orphanet:225686	Peroxisomal disease with epilepsy	semapv:ManualMappingCuration
MONDO:0016399	obsolete amino acid or protein metabolism disease with epilepsy	oboInOwl:hasDbXref	Orphanet:225689	Amino acid or protein metabolism disease with epilepsy	semapv:ManualMappingCuration
MONDO:0016400	obsolete metal transport or utilization disorder with epilepsy	oboInOwl:hasDbXref	Orphanet:225692	Metal transport or utilization disorder with epilepsy	semapv:ManualMappingCuration
MONDO:0016401	obsolete energy metabolism disorder with epilepsy	oboInOwl:hasDbXref	Orphanet:225696	Energy metabolism disorder with epilepsy	semapv:ManualMappingCuration
MONDO:0016402	obsolete mitochondrial disease with epilepsy	oboInOwl:hasDbXref	Orphanet:225700	Mitochondrial disease with epilepsy	semapv:ManualMappingCuration
MONDO:0016403	obsolete mitochondrial disease with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:225703	Mitochondrial disease with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016404	obsolete metabolic neurotransmission anomaly with epilepsy	oboInOwl:hasDbXref	Orphanet:225707	Metabolic neurotransmission anomaly with epilepsy	semapv:ManualMappingCuration
MONDO:0016405	obsolete sterol metabolism disorder with epilepsy	oboInOwl:hasDbXref	Orphanet:225710	Sterol metabolism disorder with epilepsy	semapv:ManualMappingCuration
MONDO:0016406	obsolete other metabolic disease with epilepsy	oboInOwl:hasDbXref	Orphanet:225713	Other metabolic disease with epilepsy	semapv:ManualMappingCuration
MONDO:0016407	oligomeganephronia	oboInOwl:hasDbXref	Orphanet:2260	Oligomeganephronia	semapv:ManualMappingCuration
MONDO:0016408	permanent congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:226292	Permanent congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0016409	obsolete primary congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:226295	Primary congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0016410	central congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:226298	Central congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0016411	hypothyroidism due to deficient transcription factors involved in pituitary development or function	oboInOwl:hasDbXref	Orphanet:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	semapv:ManualMappingCuration
MONDO:0016412	peripheral hypothyroidism	oboInOwl:hasDbXref	Orphanet:226310	OBSOLETE: Peripheral hypothyroidism	semapv:ManualMappingCuration
MONDO:0016413	congenital hypothyroidism due to maternal intake of antithyroid drugs	oboInOwl:hasDbXref	Orphanet:226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs	semapv:ManualMappingCuration
MONDO:0016414	hypotrichosis-intellectual disability, Lopes type	oboInOwl:hasDbXref	Orphanet:2266	Hypotrichosis-intellectual disability, Lopes type	semapv:ManualMappingCuration
MONDO:0016416	diphallia	oboInOwl:hasDbXref	Orphanet:227	Diphallia	semapv:ManualMappingCuration
MONDO:0016417	congenital ichthyosis-microcephalus-tetraplegia syndrome	oboInOwl:hasDbXref	Orphanet:2271	Congenital ichthyosis-microcephalus-tetraplegia syndrome	semapv:ManualMappingCuration
MONDO:0016418	multiple system atrophy, cerebellar type	oboInOwl:hasDbXref	Orphanet:227510	Multiple system atrophy, cerebellar type	semapv:ManualMappingCuration
MONDO:0016419	hereditary breast carcinoma	oboInOwl:hasDbXref	Orphanet:227535	Hereditary breast cancer	semapv:ManualMappingCuration
MONDO:0016420	familial flecked retinopathy	oboInOwl:hasDbXref	Orphanet:227786	OBSOLETE: Familial flecked retinopathy	semapv:ManualMappingCuration
MONDO:0016421	toxic oil syndrome	oboInOwl:hasDbXref	Orphanet:227972	Toxic oil syndrome	semapv:ManualMappingCuration
MONDO:0016422	autoimmune polyendocrinopathy type 3	oboInOwl:hasDbXref	Orphanet:227982	Autoimmune polyendocrinopathy type 3	semapv:ManualMappingCuration
MONDO:0016423	autoimmune polyendocrinopathy type 4	oboInOwl:hasDbXref	Orphanet:227990	Autoimmune polyendocrinopathy type 4	semapv:ManualMappingCuration
MONDO:0016424	progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	oboInOwl:hasDbXref	Orphanet:228012	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	semapv:ManualMappingCuration
MONDO:0016425	Hughes-Stovin syndrome	oboInOwl:hasDbXref	Orphanet:228116	Hughes-Stovin syndrome	semapv:ManualMappingCuration
MONDO:0016426	fusariosis	oboInOwl:hasDbXref	Orphanet:228119	Fusariosis	semapv:ManualMappingCuration
MONDO:0016428	obsolete multiple sclerosis variant	oboInOwl:hasDbXref	Orphanet:228145	Multiple sclerosis variant	semapv:ManualMappingCuration
MONDO:0016429	Marburg acute multiple sclerosis	oboInOwl:hasDbXref	Orphanet:228157	Marburg acute multiple sclerosis	semapv:ManualMappingCuration
MONDO:0016430	Balo concentric sclerosis	oboInOwl:hasDbXref	Orphanet:228165	Baló concentric sclerosis	semapv:ManualMappingCuration
MONDO:0016431	autosomal dominant Charcot-Marie-Tooth disease type 2M	oboInOwl:hasDbXref	Orphanet:228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M	semapv:ManualMappingCuration
MONDO:0016432	heart-hand syndrome	oboInOwl:hasDbXref	Orphanet:228184	Heart-hand syndrome	semapv:ManualMappingCuration
MONDO:0016433	dysmorphism-short stature-deafness-disorder of sex development syndrome	oboInOwl:hasDbXref	Orphanet:2282	Dysmorphism-short stature-deafness-difference of sex development syndrome	semapv:ManualMappingCuration
MONDO:0016434	obsolete acquired dermis elastic tissue disorder	oboInOwl:hasDbXref	Orphanet:228218	Acquired dermis elastic tissue disorder	semapv:ManualMappingCuration
MONDO:0016435	obsolete acquired dermis elastic tissue disorder with decreased elastic tissue	oboInOwl:hasDbXref	Orphanet:228221	Acquired dermis elastic tissue disorder with decreased elastic tissue	semapv:ManualMappingCuration
MONDO:0016436	obsolete acquired dermis elastic tissue disorder with increased elastic tissue	oboInOwl:hasDbXref	Orphanet:228224	Acquired dermis elastic tissue disorder with increased elastic tissue	semapv:ManualMappingCuration
MONDO:0016437	late-onset focal dermal elastosis	oboInOwl:hasDbXref	Orphanet:228227	Late-onset focal dermal elastosis	semapv:ManualMappingCuration
MONDO:0016438	linear focal dermal elastosis	oboInOwl:hasDbXref	Orphanet:228236	Linear focal elastosis	semapv:ManualMappingCuration
MONDO:0016439	elastoderma	oboInOwl:hasDbXref	Orphanet:228240	Elastoderma	semapv:ManualMappingCuration
MONDO:0016440	elastofibroma dorsi	oboInOwl:hasDbXref	Orphanet:228243	Elastofibroma dorsi	semapv:ManualMappingCuration
MONDO:0016441	acquired pseudoxanthoma elasticum	oboInOwl:hasDbXref	Orphanet:228247	Acquired pseudoxanthoma elasticum	semapv:ManualMappingCuration
MONDO:0016442	elastoma	oboInOwl:hasDbXref	Orphanet:228254	Elastoma	semapv:ManualMappingCuration
MONDO:0016443	papular elastorrhexis	oboInOwl:hasDbXref	Orphanet:228264	Papular elastorrhexis	semapv:ManualMappingCuration
MONDO:0016444	primary anetoderma	oboInOwl:hasDbXref	Orphanet:228272	Primary anetoderma	semapv:ManualMappingCuration
MONDO:0016445	familial anetoderma	oboInOwl:hasDbXref	Orphanet:228277	Familial anetoderma	semapv:ManualMappingCuration
MONDO:0016446	acquired cutis laxa	oboInOwl:hasDbXref	Orphanet:228285	Acquired cutis laxa	semapv:ManualMappingCuration
MONDO:0016447	white fibrous papulosis of the neck	oboInOwl:hasDbXref	Orphanet:228290	White fibrous papulosis of the neck	semapv:ManualMappingCuration
MONDO:0016448	pseudoxanthoma elasticum-like papillary dermal elastolysis	oboInOwl:hasDbXref	Orphanet:228293	Pseudoxanthoma elasticum-like papillary dermal elastolysis	semapv:ManualMappingCuration
MONDO:0016449	mid-dermal elastolysis	oboInOwl:hasDbXref	Orphanet:228299	Mid-dermal elastolysis	semapv:ManualMappingCuration
MONDO:0016450	autoimmune hemolytic anemia, cold type	oboInOwl:hasDbXref	Orphanet:228312	Autoimmune hemolytic anemia, cold type	semapv:ManualMappingCuration
MONDO:0016451	idiopathic hypersomnia with long sleep time	oboInOwl:hasDbXref	Orphanet:228315	OBSOLETE: Idiopathic hypersomnia with long sleep time	semapv:ManualMappingCuration
MONDO:0016452	idiopathic hypersomnia without long sleep time	oboInOwl:hasDbXref	Orphanet:228318	OBSOLETE: Idiopathic hypersomnia without long sleep time	semapv:ManualMappingCuration
MONDO:0016453	foodborne botulism	oboInOwl:hasDbXref	Orphanet:228371	Foodborne botulism	semapv:ManualMappingCuration
MONDO:0016454	Charcot-Marie-Tooth disease type 2B5	oboInOwl:hasDbXref	Orphanet:228374	Charcot-Marie-Tooth disease type 2B5	semapv:ManualMappingCuration
MONDO:0016455	virus-associated trichodysplasia spinulosa	oboInOwl:hasDbXref	Orphanet:228379	Virus-associated trichodysplasia spinulosa	semapv:ManualMappingCuration
MONDO:0016456	5q14.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:228384	5q14.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016457	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	oboInOwl:hasDbXref	Orphanet:228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	semapv:ManualMappingCuration
MONDO:0016458	8q12 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:228399	8q12 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016459	2q23.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:228402	2q23.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016460	polyvalvular heart disease syndrome	oboInOwl:hasDbXref	Orphanet:228410	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0016461	5q35 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:228415	5q35 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016462	isolated agammaglobulinemia	oboInOwl:hasDbXref	Orphanet:229717	Isolated agammaglobulinemia	semapv:ManualMappingCuration
MONDO:0016463	syndromic agammaglobulinemia	oboInOwl:hasDbXref	Orphanet:229720	Syndromic agammaglobulinemia	semapv:ManualMappingCuration
MONDO:0016464	insulin-resistance syndrome type B	oboInOwl:hasDbXref	Orphanet:2298	Insulin-resistance syndrome type B	semapv:ManualMappingCuration
MONDO:0016466	asbestosis	oboInOwl:hasDbXref	Orphanet:2302	Asbestos intoxication	semapv:ManualMappingCuration
MONDO:0016467	isotretinoin syndrome	oboInOwl:hasDbXref	Orphanet:2305	Isotretinoin syndrome	semapv:ManualMappingCuration
MONDO:0016468	toxin-mediated infectious botulism	oboInOwl:hasDbXref	Orphanet:230800	Toxin-mediated infectious botulism	semapv:ManualMappingCuration
MONDO:0016469	Ehlers-Danlos syndrome, vascular-like type	oboInOwl:hasDbXref	Orphanet:230845	Vascular-like classical Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0016470	Ehlers-Danlos/osteogenesis imperfecta syndrome	oboInOwl:hasDbXref	Orphanet:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome	semapv:ManualMappingCuration
MONDO:0016471	pachyonychia congenita	oboInOwl:hasDbXref	Orphanet:2309	Pachyonychia congenita	semapv:ManualMappingCuration
MONDO:0016472	dracunculiasis	oboInOwl:hasDbXref	Orphanet:231	Dracunculiasis	semapv:ManualMappingCuration
MONDO:0016473	familial rhabdoid tumor	oboInOwl:hasDbXref	Orphanet:231108	Rhabdoid tumor predisposition syndrome	semapv:ManualMappingCuration
MONDO:0016474	drug-induced lupus erythematosus	oboInOwl:hasDbXref	Orphanet:231111	Drug-induced lupus erythematosus	semapv:ManualMappingCuration
MONDO:0016475	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	oboInOwl:hasDbXref	Orphanet:231117	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	semapv:ManualMappingCuration
MONDO:0016476	Beckwith-Wiedemann syndrome due to CDKN1C mutation	oboInOwl:hasDbXref	Orphanet:231120	Beckwith-Wiedemann syndrome due to CDKN1C mutation	semapv:ManualMappingCuration
MONDO:0016477	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	oboInOwl:hasDbXref	Orphanet:231127	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	semapv:ManualMappingCuration
MONDO:0016478	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	oboInOwl:hasDbXref	Orphanet:231130	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	semapv:ManualMappingCuration
MONDO:0016479	silver-Russell syndrome due to 7p11.2p13 microduplication	oboInOwl:hasDbXref	Orphanet:231137	Silver-Russell syndrome due to 7p11.2p13 microduplication	semapv:ManualMappingCuration
MONDO:0016480	silver-Russell syndrome due to an imprinting defect of 11p15	oboInOwl:hasDbXref	Orphanet:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	semapv:ManualMappingCuration
MONDO:0016481	silver-Russell syndrome due to 11p15 microduplication	oboInOwl:hasDbXref	Orphanet:231144	Silver-Russell syndrome due to 11p15 microduplication	semapv:ManualMappingCuration
MONDO:0016482	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	oboInOwl:hasDbXref	Orphanet:231147	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	semapv:ManualMappingCuration
MONDO:0016483	intracranial berry aneurysm	oboInOwl:hasDbXref	Orphanet:231160	Familial cerebral saccular aneurysm	semapv:ManualMappingCuration
MONDO:0016484	Usher syndrome type 2	oboInOwl:hasDbXref	Orphanet:231178	Usher syndrome type 2	semapv:ManualMappingCuration
MONDO:0016485	Usher syndrome type 3	oboInOwl:hasDbXref	Orphanet:231183	Usher syndrome type 3	semapv:ManualMappingCuration
MONDO:0016486	beta-thalassemia major	oboInOwl:hasDbXref	Orphanet:231214	Beta-thalassemia major	semapv:ManualMappingCuration
MONDO:0016487	beta-thalassemia intermedia	oboInOwl:hasDbXref	Orphanet:231222	Beta-thalassemia intermedia	semapv:ManualMappingCuration
MONDO:0016488	obsolete beta-thalassemia associated with another hemoglobin anomaly	oboInOwl:hasDbXref	Orphanet:231230	Beta-thalassemia associated with another hemoglobin anomaly	semapv:ManualMappingCuration
MONDO:0016489	delta-beta-thalassemia	oboInOwl:hasDbXref	Orphanet:231237	Delta-beta-thalassemia	semapv:ManualMappingCuration
MONDO:0016490	hemoglobin C-beta-thalassemia syndrome	oboInOwl:hasDbXref	Orphanet:231242	Hemoglobin C-beta-thalassemia syndrome	semapv:ManualMappingCuration
MONDO:0016491	hemoglobin E-beta-thalassemia syndrome	oboInOwl:hasDbXref	Orphanet:231249	Hemoglobin E-beta-thalassemia syndrome	semapv:ManualMappingCuration
MONDO:0016492	obsolete beta-thalassemia with other manifestations	oboInOwl:hasDbXref	Orphanet:231386	Beta-thalassemia with other manifestations	semapv:ManualMappingCuration
MONDO:0016493	obsolete variant of Guillain-Barre syndrome	oboInOwl:hasDbXref	Orphanet:231413	Variant of Guillain-Barré syndrome	semapv:ManualMappingCuration
MONDO:0016494	obsolete regional variant of Guillain-Barre syndrome	oboInOwl:hasDbXref	Orphanet:231416	Regional variant of Guillain-Barré syndrome	semapv:ManualMappingCuration
MONDO:0016495	obsolete functional variant of Guillain-Barre syndrome	oboInOwl:hasDbXref	Orphanet:231419	Functional variant of Guillain-Barré syndrome	semapv:ManualMappingCuration
MONDO:0016496	pharyngeal-cervical-brachial variant of Guillain-Barre syndrome	oboInOwl:hasDbXref	Orphanet:231426	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome	semapv:ManualMappingCuration
MONDO:0016497	paraparetic variant of Guillain-Barre syndrome	oboInOwl:hasDbXref	Orphanet:231445	Paraparetic variant of Guillain-Barré syndrome	semapv:ManualMappingCuration
MONDO:0016498	acute pure sensory neuropathy	oboInOwl:hasDbXref	Orphanet:231450	Acute pure sensory neuropathy	semapv:ManualMappingCuration
MONDO:0016499	autoimmune autonomic ganglionopathy	oboInOwl:hasDbXref	Orphanet:231457	Acute pandysautonomia	semapv:ManualMappingCuration
MONDO:0016500	acute sensory ataxic neuropathy	oboInOwl:hasDbXref	Orphanet:231466	Acute sensory ataxic neuropathy	semapv:ManualMappingCuration
MONDO:0016501	Hermansky-Pudlak syndrome with pulmonary fibrosis	oboInOwl:hasDbXref	Orphanet:231500	Hermansky-Pudlak syndrome due to BLOC-3 deficiency	semapv:ManualMappingCuration
MONDO:0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis	oboInOwl:hasDbXref	Orphanet:231512	Hermansky-Pudlak syndrome due to BLOC-2 deficiency	semapv:ManualMappingCuration
MONDO:0016503	congenital erosive and vesicular dermatosis	oboInOwl:hasDbXref	Orphanet:231573	Congenital erosive and vesicular dermatosis	semapv:ManualMappingCuration
MONDO:0016504	primary unilateral adrenal hyperplasia	oboInOwl:hasDbXref	Orphanet:231580	Primary unilateral adrenal hyperplasia	semapv:ManualMappingCuration
MONDO:0016505	aldosterone-producing adrenal cortex adenoma	oboInOwl:hasDbXref	Orphanet:231625	Adrenocortical carcinoma with pure aldosterone hypersecretion	semapv:ManualMappingCuration
MONDO:0016506	ectopic aldosterone-producing tumor	oboInOwl:hasDbXref	Orphanet:231632	Ectopic aldosterone-producing tumor	semapv:ManualMappingCuration
MONDO:0016507	obsolete rare surgically correctable form of primary aldosteronism	oboInOwl:hasDbXref	Orphanet:231637	Rare surgically correctable form of primary aldosteronism	semapv:ManualMappingCuration
MONDO:0016508	obsolete rare non surgically correctable form of primary aldosteronism	oboInOwl:hasDbXref	Orphanet:231641	Rare non surgically correctable form of primary aldosteronism	semapv:ManualMappingCuration
MONDO:0016509	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	oboInOwl:hasDbXref	Orphanet:231736	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	semapv:ManualMappingCuration
MONDO:0016510	epibulbar lipodermoid-preauricular appendage-polythelia syndrome	oboInOwl:hasDbXref	Orphanet:231742	Epibulbar lipodermoid-preauricular appendage-polythelia syndrome	semapv:ManualMappingCuration
MONDO:0016511	infectious embryofetopathy	oboInOwl:hasDbXref	Orphanet:232035	Infectious embryofetopathy	semapv:ManualMappingCuration
MONDO:0016512	Kabuki syndrome	oboInOwl:hasDbXref	Orphanet:2322	Kabuki syndrome	semapv:ManualMappingCuration
MONDO:0016513	obsolete alpha-thalassemia-related diseases	oboInOwl:hasDbXref	Orphanet:232288	Syndrome with alpha-thalassemia as a major feature	semapv:ManualMappingCuration
MONDO:0016514	epidermolysis bullosa simplex with anodontia/hypodontia	oboInOwl:hasDbXref	Orphanet:2325	Epidermolysis bullosa simplex with anodontia/hypodontia	semapv:ManualMappingCuration
MONDO:0016515	Kallmann syndrome-heart disease syndrome	oboInOwl:hasDbXref	Orphanet:2326	Kallmann syndrome-heart disease syndrome	semapv:ManualMappingCuration
MONDO:0016516	Kenny-Caffey syndrome	oboInOwl:hasDbXref	Orphanet:2333	Kenny-Caffey syndrome	semapv:ManualMappingCuration
MONDO:0016517	obsolete rare genetic vascular disease	oboInOwl:hasDbXref	Orphanet:233655	Rare genetic vascular disease	semapv:ManualMappingCuration
MONDO:0016518	obsolete isolated punctate palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:2338	Isolated punctate palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0016521	muscular pseudohypertrophy-hypothyroidism syndrome	oboInOwl:hasDbXref	Orphanet:2349	Muscular pseudohypertrophy-hypothyroidism syndrome	semapv:ManualMappingCuration
MONDO:0016522	Kousseff syndrome	oboInOwl:hasDbXref	Orphanet:2351	Kousseff syndrome	semapv:ManualMappingCuration
MONDO:0016523	bronchogenic cyst	oboInOwl:hasDbXref	Orphanet:2357	Bronchogenic cyst	semapv:ManualMappingCuration
MONDO:0016524	obsolete congenital vascular bone syndrome	oboInOwl:hasDbXref	Orphanet:235832	Congenital vascular bone syndrome	semapv:ManualMappingCuration
MONDO:0016525	familial hyperaldosteronism	oboInOwl:hasDbXref	Orphanet:235936	Familial hyperaldosteronism	semapv:ManualMappingCuration
MONDO:0016525	familial hyperaldosteronism	oboInOwl:hasDbXref	Orphanet:371861	Genetic hyperaldosteronism	semapv:ManualMappingCuration
MONDO:0016526	trisomy 9p	oboInOwl:hasDbXref	Orphanet:236	Trisomy 9p syndrome	semapv:ManualMappingCuration
MONDO:0016526	trisomy 9p	oboInOwl:hasDbXref	Orphanet:262767	Partial duplication/triplication of the short arm of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0016527	glycogen storage disease due to lactate dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:2364	Glycogen storage disease due to lactate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0016528	limb body wall complex	oboInOwl:hasDbXref	Orphanet:2369	Limb body wall complex	semapv:ManualMappingCuration
MONDO:0016529	duplication of urethra	oboInOwl:hasDbXref	Orphanet:237	Duplication of urethra	semapv:ManualMappingCuration
MONDO:0016530	laryngocele	oboInOwl:hasDbXref	Orphanet:2372	Laryngocele	semapv:ManualMappingCuration
MONDO:0016531	digestive duplication	oboInOwl:hasDbXref	Orphanet:238	OBSOLETE: Digestive duplication	semapv:ManualMappingCuration
MONDO:0016532	Lennox-Gastaut syndrome	oboInOwl:hasDbXref	Orphanet:2382	Lennox-Gastaut syndrome	semapv:ManualMappingCuration
MONDO:0016533	apolipoprotein A-II amyloidosis	oboInOwl:hasDbXref	Orphanet:238269	AApoAII amyloidosis	semapv:ManualMappingCuration
MONDO:0016534	infundibulo-neurohypophysitis	oboInOwl:hasDbXref	Orphanet:238305	Infundibulo-neurohypophysitis	semapv:ManualMappingCuration
MONDO:0016535	hypohidrotic ectodermal dysplasia	oboInOwl:hasDbXref	Orphanet:238468	Hypohidrotic ectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0016536	obsolete autosomal recessive lymphoproliferative disease	oboInOwl:hasDbXref	Orphanet:238505	Combined immunodeficiency due to CD27 deficiency	semapv:ManualMappingCuration
MONDO:0016537	lymphoproliferative syndrome	oboInOwl:hasDbXref	Orphanet:238510	OBSOLETE: Lymphoproliferative syndrome	semapv:ManualMappingCuration
MONDO:0016539	atypical hypotonia-cystinuria syndrome	oboInOwl:hasDbXref	Orphanet:238523	Atypical hypotonia-cystinuria syndrome	semapv:ManualMappingCuration
MONDO:0016540	congenital secondary polycythemia	oboInOwl:hasDbXref	Orphanet:238536	Congenital secondary polycythemia	semapv:ManualMappingCuration
MONDO:0016541	acquired secondary polycythemia	oboInOwl:hasDbXref	Orphanet:238547	Acquired secondary polycythemia	semapv:ManualMappingCuration
MONDO:0016542	IL10-related early-onset inflammatory bowel disease	oboInOwl:hasDbXref	Orphanet:238569	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	semapv:ManualMappingCuration
MONDO:0016543	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	oboInOwl:hasDbXref	Orphanet:238583	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	semapv:ManualMappingCuration
MONDO:0016544	IgG4-related mesenteritis	oboInOwl:hasDbXref	Orphanet:238593	IgG4-related mesenteritis	semapv:ManualMappingCuration
MONDO:0016545	leukoencephalopathy-palmoplantar keratoderma syndrome	oboInOwl:hasDbXref	Orphanet:2386	Leukoencephalopathy-palmoplantar keratoderma syndrome	semapv:ManualMappingCuration
MONDO:0016546	primary orthostatic tremor	oboInOwl:hasDbXref	Orphanet:238606	Primary orthostatic tremor	semapv:ManualMappingCuration
MONDO:0016547	Beckwith-Wiedemann syndrome due to NSD1 mutation	oboInOwl:hasDbXref	Orphanet:238613	Beckwith-Wiedemann syndrome due to NSD1 mutation	semapv:ManualMappingCuration
MONDO:0016548	megacystis-megaureter syndrome	oboInOwl:hasDbXref	Orphanet:238637	Megacystis-megaureter syndrome	semapv:ManualMappingCuration
MONDO:0016549	primary megaureter, adult-onset form	oboInOwl:hasDbXref	Orphanet:238642	Primary megaureter, adult-onset form	semapv:ManualMappingCuration
MONDO:0016550	congenital primary megaureter, obstructed form	oboInOwl:hasDbXref	Orphanet:238646	Congenital primary megaureter, obstructed form	semapv:ManualMappingCuration
MONDO:0016551	congenital primary megaureter, refluxing form	oboInOwl:hasDbXref	Orphanet:238650	Congenital primary megaureter, refluxing form	semapv:ManualMappingCuration
MONDO:0016552	congenital primary megaureter, nonrefluxing and unobstructed form	oboInOwl:hasDbXref	Orphanet:238654	Congenital primary megaureter, nonrefluxing and unobstructed form	semapv:ManualMappingCuration
MONDO:0016553	isolated congenital hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:238666	Isolated congenital hypogonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0016554	neonatal iodine exposure	oboInOwl:hasDbXref	Orphanet:238688	Neonatal iodine exposure	semapv:ManualMappingCuration
MONDO:0016555	transient congenital hypothyroidism due to maternal factor	oboInOwl:hasDbXref	Orphanet:238696	Transient congenital hypothyroidism due to maternal factor	semapv:ManualMappingCuration
MONDO:0016556	transient congenital hypothyroidism due to neonatal factor	oboInOwl:hasDbXref	Orphanet:238699	Transient congenital hypothyroidism due to neonatal factor	semapv:ManualMappingCuration
MONDO:0016557	leukonychia totalis	oboInOwl:hasDbXref	Orphanet:2387	Leukonychia totalis	semapv:ManualMappingCuration
MONDO:0016558	familial congenital mirror movements	oboInOwl:hasDbXref	Orphanet:238722	Familial congenital mirror movements	semapv:ManualMappingCuration
MONDO:0016559	glaucoma secondary to spherophakia/ectopia lentis and megalocornea	oboInOwl:hasDbXref	Orphanet:238763	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	semapv:ManualMappingCuration
MONDO:0016560	ptosis-syndactyly-learning difficulties syndrome	oboInOwl:hasDbXref	Orphanet:238766	Ptosis-syndactyly-learning difficulties syndrome	semapv:ManualMappingCuration
MONDO:0016561	1q44 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:238769	1q44 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016562	progressive supranuclear palsy-pure akinesia with gait freezing syndrome	oboInOwl:hasDbXref	Orphanet:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	semapv:ManualMappingCuration
MONDO:0016563	progressive supranuclear palsy-corticobasal syndrome	oboInOwl:hasDbXref	Orphanet:240103	Progressive supranuclear palsy-corticobasal syndrome	semapv:ManualMappingCuration
MONDO:0016564	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	oboInOwl:hasDbXref	Orphanet:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	semapv:ManualMappingCuration
MONDO:0016565	obsolete syndromic genetic obesity	oboInOwl:hasDbXref	Orphanet:240371	Syndromic obesity	semapv:ManualMappingCuration
MONDO:0016566	loiasis	oboInOwl:hasDbXref	Orphanet:2404	Loiasis	semapv:ManualMappingCuration
MONDO:0016567	locked-in syndrome	oboInOwl:hasDbXref	Orphanet:2406	Locked-in syndrome	semapv:ManualMappingCuration
MONDO:0016568	Lowe-Kohn-Cohen syndrome	oboInOwl:hasDbXref	Orphanet:2408	Lowe-Kohn-Cohen syndrome	semapv:ManualMappingCuration
MONDO:0016570	primary pulmonary lymphoma	oboInOwl:hasDbXref	Orphanet:2420	Primary pulmonary lymphoma	semapv:ManualMappingCuration
MONDO:0016571	macrocephaly-short stature-paraplegia syndrome	oboInOwl:hasDbXref	Orphanet:2427	Macrocephaly-short stature-paraplegia syndrome	semapv:ManualMappingCuration
MONDO:0016572	central bilateral macrogyria	oboInOwl:hasDbXref	Orphanet:2431	Central bilateral macrogyria	semapv:ManualMappingCuration
MONDO:0016573	acute fatty liver of pregnancy	oboInOwl:hasDbXref	Orphanet:243367	Acute fatty liver of pregnancy	semapv:ManualMappingCuration
MONDO:0016574	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2435	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0016575	primary ciliary dyskinesia	oboInOwl:hasDbXref	Orphanet:244	Primary ciliary dyskinesia	semapv:ManualMappingCuration
MONDO:0016576	split hand-foot malformation	oboInOwl:hasDbXref	Orphanet:2440	Isolated split hand-split foot malformation	semapv:ManualMappingCuration
MONDO:0016577	biliary atresia with splenic malformation syndrome	oboInOwl:hasDbXref	Orphanet:244283	Biliary atresia with splenic malformation syndrome	semapv:ManualMappingCuration
MONDO:0016578	obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	oboInOwl:hasDbXref	Orphanet:2443	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	semapv:ManualMappingCuration
MONDO:0016579	obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis	oboInOwl:hasDbXref	Orphanet:244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	semapv:ManualMappingCuration
MONDO:0016580	congenital pulmonary airway malformation	oboInOwl:hasDbXref	Orphanet:2444	Congenital pulmonary airway malformation	semapv:ManualMappingCuration
MONDO:0016581	conotruncal heart malformations	oboInOwl:hasDbXref	Orphanet:2445	Conotruncal heart malformations	semapv:ManualMappingCuration
MONDO:0016582	congenital mitral malformation	oboInOwl:hasDbXref	Orphanet:2447	Congenital mitral malformation	semapv:ManualMappingCuration
MONDO:0016583	familial intestinal malrotation-facial anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2454	OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome	semapv:ManualMappingCuration
MONDO:0016584	mandibuloacral dysplasia	oboInOwl:hasDbXref	Orphanet:2457	Mandibuloacral dysplasia	semapv:ManualMappingCuration
MONDO:0016586	systemic mastocytosis	oboInOwl:hasDbXref	Orphanet:2467	Systemic mastocytosis	semapv:ManualMappingCuration
MONDO:0016587	arrhythmogenic right ventricular cardiomyopathy	oboInOwl:hasDbXref	Orphanet:247	Inherited arrhythmogenic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0016588	infantile mercury poisoning	oboInOwl:hasDbXref	Orphanet:247165	Infantile mercury poisoning	semapv:ManualMappingCuration
MONDO:0016589	obsolete progressive cerebello-cerebral atrophy	oboInOwl:hasDbXref	Orphanet:247198	Progressive cerebello-cerebral atrophy	semapv:ManualMappingCuration
MONDO:0016591	sporadic adult-onset ataxia of unknown etiology	oboInOwl:hasDbXref	Orphanet:247234	Sporadic adult-onset ataxia of unknown etiology	semapv:ManualMappingCuration
MONDO:0016592	obsolete non-hereditary degenerative ataxia	oboInOwl:hasDbXref	Orphanet:247239	Non-hereditary degenerative ataxia	semapv:ManualMappingCuration
MONDO:0016593	acquired ataxia	oboInOwl:hasDbXref	Orphanet:247242	Acquired ataxia	semapv:ManualMappingCuration
MONDO:0016594	superficial siderosis	oboInOwl:hasDbXref	Orphanet:247245	Superficial siderosis	semapv:ManualMappingCuration
MONDO:0016595	inhalational anthrax	oboInOwl:hasDbXref	Orphanet:247257	Inhalational anthrax	semapv:ManualMappingCuration
MONDO:0016596	hyperphosphatasia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:247262	Hyperphosphatasia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0016598	autosomal recessive secondary polycythemia not associated with VHL gene	oboInOwl:hasDbXref	Orphanet:247378	Autosomal recessive secondary polycythemia not associated with VHL gene	semapv:ManualMappingCuration
MONDO:0016599	obsolete autosomal dominant secondary polycythemia	oboInOwl:hasDbXref	Orphanet:247511	Autosomal dominant secondary polycythemia	semapv:ManualMappingCuration
MONDO:0016600	acute neonatal citrullinemia type I	oboInOwl:hasDbXref	Orphanet:247546	Acute neonatal citrullinemia type I	semapv:ManualMappingCuration
MONDO:0016601	adult-onset citrullinemia type I	oboInOwl:hasDbXref	Orphanet:247573	Late-onset citrullinemia type I	semapv:ManualMappingCuration
MONDO:0016602	citrin deficiency	oboInOwl:hasDbXref	Orphanet:247582	Citrin deficiency	semapv:ManualMappingCuration
MONDO:0016603	citrullinemia type II	oboInOwl:hasDbXref	Orphanet:247585	Citrullinemia type II	semapv:ManualMappingCuration
MONDO:0016604	dysraphism-cleft lip/palate-limb reduction defects syndrome	oboInOwl:hasDbXref	Orphanet:2476	Dysraphism-cleft lip/palate-limb reduction defects syndrome	semapv:ManualMappingCuration
MONDO:0016605	perinatal lethal hypophosphatasia	oboInOwl:hasDbXref	Orphanet:247623	Perinatal lethal hypophosphatasia	semapv:ManualMappingCuration
MONDO:0016606	obsolete prenatal benign hypophosphatasia	oboInOwl:hasDbXref	Orphanet:247638	Prenatal benign hypophosphatasia	semapv:ManualMappingCuration
MONDO:0016607	odontohypophosphatasia	oboInOwl:hasDbXref	Orphanet:247685	Odontohypophosphatasia	semapv:ManualMappingCuration
MONDO:0016608	megalencephaly	oboInOwl:hasDbXref	Orphanet:2477	Megalencephaly	semapv:ManualMappingCuration
MONDO:0016609	inflammatory myopathy with abundant macrophages	oboInOwl:hasDbXref	Orphanet:247718	Inflammatory myopathy with abundant macrophages	semapv:ManualMappingCuration
MONDO:0016610	idiopathic eosinophilic myositis	oboInOwl:hasDbXref	Orphanet:247724	Idiopathic eosinophilic myositis	semapv:ManualMappingCuration
MONDO:0016611	lipoblastoma	oboInOwl:hasDbXref	Orphanet:247762	Lipoblastoma	semapv:ManualMappingCuration
MONDO:0016612	X-linked cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:247765	X-linked cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0016613	APC-related attenuated familial adenomatous polyposis	oboInOwl:hasDbXref	Orphanet:247806	APC-related attenuated familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0016614	autosomal recessive ataxia due to PEX10 deficiency	oboInOwl:hasDbXref	Orphanet:247815	Autosomal recessive ataxia due to PEX10 deficiency	semapv:ManualMappingCuration
MONDO:0016615	oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies	oboInOwl:hasDbXref	Orphanet:247839	OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies	semapv:ManualMappingCuration
MONDO:0016616	oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies	oboInOwl:hasDbXref	Orphanet:247846	OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies	semapv:ManualMappingCuration
MONDO:0016617	rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies	oboInOwl:hasDbXref	Orphanet:247854	OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies	semapv:ManualMappingCuration
MONDO:0016618	rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies	oboInOwl:hasDbXref	Orphanet:247861	OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies	semapv:ManualMappingCuration
MONDO:0016619	autosomal recessive hypohidrotic ectodermal dysplasia	oboInOwl:hasDbXref	Orphanet:248	Autosomal recessive hypohidrotic ectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0016620	primary hypertrophic osteoarthropathy	oboInOwl:hasDbXref	Orphanet:248095	Primary hypertrophic osteoarthropathy	semapv:ManualMappingCuration
MONDO:0016620	primary hypertrophic osteoarthropathy	oboInOwl:hasDbXref	Orphanet:2796	Pachydermoperiostosis	semapv:ManualMappingCuration
MONDO:0016621	juvenile Huntington disease	oboInOwl:hasDbXref	Orphanet:248111	Juvenile Huntington disease	semapv:ManualMappingCuration
MONDO:0016622	Melhem-Fahl syndrome	oboInOwl:hasDbXref	Orphanet:2482	Melhem-Fahl syndrome	semapv:ManualMappingCuration
MONDO:0016623	obsolete rare deficiency anemia	oboInOwl:hasDbXref	Orphanet:248293	Rare deficiency anemia	semapv:ManualMappingCuration
MONDO:0016624	hereditary anemia	oboInOwl:hasDbXref	Orphanet:248296	Constitutional deficiency anemia	semapv:ManualMappingCuration
MONDO:0016625	acquired deficiency anemia	oboInOwl:hasDbXref	Orphanet:248302	Rare acquired deficiency anemia	semapv:ManualMappingCuration
MONDO:0016626	obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:248305	OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0016627	obsolete rare hemorrhagic disorder	oboInOwl:hasDbXref	Orphanet:248308	Rare hemorrhagic disorder	semapv:ManualMappingCuration
MONDO:0016628	obsolete hemorrhagic disorder due to a coagulation factors defect	oboInOwl:hasDbXref	Orphanet:248315	Rare hemorrhagic disorder due to a coagulation factors defect	semapv:ManualMappingCuration
MONDO:0016629	obsolete hemorrhagic disorder due to a platelet anomaly	oboInOwl:hasDbXref	Orphanet:248326	Rare hemorrhagic disorder due to a platelet anomaly	semapv:ManualMappingCuration
MONDO:0016630	isolated delta-storage pool disease	oboInOwl:hasDbXref	Orphanet:248340	Isolated delta-storage pool disease	semapv:ManualMappingCuration
MONDO:0016631	obsolete hemorrhagic disorder due to an acquired platelet anomaly	oboInOwl:hasDbXref	Orphanet:248347	Rare hemorrhagic disorder due to an acquired platelet anomaly	semapv:ManualMappingCuration
MONDO:0016632	obsolete thrombotic disorder due to a coagulation factors defect	oboInOwl:hasDbXref	Orphanet:248358	Rare thrombotic disorder due to a coagulation factors defect	semapv:ManualMappingCuration
MONDO:0016633	obsolete thrombotic disorder due to a constitutional coagulation factors defect	oboInOwl:hasDbXref	Orphanet:248361	Rare thrombotic disorder due to a constitutional coagulation factors defect	semapv:ManualMappingCuration
MONDO:0016634	obsolete thrombotic disorder due to an acquired coagulation factors defect	oboInOwl:hasDbXref	Orphanet:248365	Rare thrombotic disorder due to an acquired coagulation factors defect	semapv:ManualMappingCuration
MONDO:0016635	obsolete thrombotic disorder due to a platelet anomaly	oboInOwl:hasDbXref	Orphanet:248368	Rare thrombotic disorder due to a platelet anomaly	semapv:ManualMappingCuration
MONDO:0016636	obsolete thrombotic disorder due to a constitutional platelet anomaly	oboInOwl:hasDbXref	Orphanet:248401	Rare thrombotic disorder due to a constitutional platelet anomaly	semapv:ManualMappingCuration
MONDO:0016637	obsolete thrombotic disorder due to an acquired platelet anomaly	oboInOwl:hasDbXref	Orphanet:248404	Rare thrombotic disorder due to an acquired platelet anomaly	semapv:ManualMappingCuration
MONDO:0016638	familial hypodysfibrinogenemia	oboInOwl:hasDbXref	Orphanet:248408	Familial hypodysfibrinogenemia	semapv:ManualMappingCuration
MONDO:0016639	lower limb deficiency-hypospadias syndrome	oboInOwl:hasDbXref	Orphanet:2487	Lower limb malformation-hypospadias syndrome	semapv:ManualMappingCuration
MONDO:0016641	limb transversal defect-cardiac anomaly syndrome	oboInOwl:hasDbXref	Orphanet:2492	FATCO syndrome	semapv:ManualMappingCuration
MONDO:0016642	meningioma	oboInOwl:hasDbXref	Orphanet:2495	Meningioma	semapv:ManualMappingCuration
MONDO:0016643	frontonasal dysplasia	oboInOwl:hasDbXref	Orphanet:250	Frontonasal dysplasia	semapv:ManualMappingCuration
MONDO:0016644	logopenic progressive aphasia	oboInOwl:hasDbXref	Orphanet:250831	Logopenic progressive aphasia	semapv:ManualMappingCuration
MONDO:0016645	obsolete rare neoplastic disease	oboInOwl:hasDbXref	Orphanet:250908	Rare neoplastic disease	semapv:ManualMappingCuration
MONDO:0016646	autosomal dominant optic atrophy and peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:250932	Autosomal dominant optic atrophy and peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0016647	obsolete autosomal recessive Stickler syndrome	oboInOwl:hasDbXref	Orphanet:250984	Autosomal recessive Stickler syndrome	semapv:ManualMappingCuration
MONDO:0016648	multiple epiphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:251	Multiple epiphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0016649	Warburg micro syndrome	oboInOwl:hasDbXref	Orphanet:2510	Micro syndrome	semapv:ManualMappingCuration
MONDO:0016650	paternal uniparental disomy of chromosome 1	oboInOwl:hasDbXref	Orphanet:251004	Paternal uniparental disomy of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0016651	maternal uniparental disomy of chromosome 1	oboInOwl:hasDbXref	Orphanet:251009	Maternal uniparental disomy of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0016652	2q31.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:251014	2q31.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016653	2q33.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:251028	SATB2-associated syndrome due to a chromosomal rearrangement	semapv:ManualMappingCuration
MONDO:0016654	ring chromosome 5	oboInOwl:hasDbXref	Orphanet:251043	Ring chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016655	6p22 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:251046	6p22 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016656	7q31 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:251061	7q31 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016657	8p11.2 deletion syndrome	oboInOwl:hasDbXref	Orphanet:251066	8p11.2 deletion syndrome	semapv:ManualMappingCuration
MONDO:0016658	8p23.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:251071	8p23.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016659	8p23.1 duplication syndrome	oboInOwl:hasDbXref	Orphanet:251076	8p23.1 duplication syndrome	semapv:ManualMappingCuration
MONDO:0016660	autosomal recessive primary microcephaly	oboInOwl:hasDbXref	Orphanet:2512	Autosomal recessive primary microcephaly	semapv:ManualMappingCuration
MONDO:0016661	infantile onset panniculitis with uveitis and systemic granulomatosis	oboInOwl:hasDbXref	Orphanet:251304	Infantile onset panniculitis with uveitis and systemic granulomatosis	semapv:ManualMappingCuration
MONDO:0016662	idiopathic recurrent pericarditis	oboInOwl:hasDbXref	Orphanet:251307	Idiopathic recurrent pericarditis	semapv:ManualMappingCuration
MONDO:0016663	overlapping connective tissue disease	oboInOwl:hasDbXref	Orphanet:251312	Overlapping connective tissue disease	semapv:ManualMappingCuration
MONDO:0016664	drug-induced vasculitis	oboInOwl:hasDbXref	Orphanet:251325	Drug-induced vasculitis	semapv:ManualMappingCuration
MONDO:0016665	obsolete unclassified vasculitis	oboInOwl:hasDbXref	Orphanet:251328	Unclassified vasculitis	semapv:ManualMappingCuration
MONDO:0016666	unexplained long-lasting fever/inflammatory syndrome	oboInOwl:hasDbXref	Orphanet:251332	Unexplained long-lasting fever/inflammatory syndrome	semapv:ManualMappingCuration
MONDO:0016667	obsolete sickle cell disease associated with an other hemoglobin anomaly	oboInOwl:hasDbXref	Orphanet:251355	Sickle cell disease associated with another hemoglobin anomaly	semapv:ManualMappingCuration
MONDO:0016668	sickle cell-beta-thalassemia disease syndrome	oboInOwl:hasDbXref	Orphanet:251359	Sickle cell-beta-thalassemia disease syndrome	semapv:ManualMappingCuration
MONDO:0016669	sickle cell-hemoglobin c disease syndrome	oboInOwl:hasDbXref	Orphanet:251365	Sickle cell-hemoglobin C disease syndrome	semapv:ManualMappingCuration
MONDO:0016670	sickle cell-hemoglobin d disease syndrome	oboInOwl:hasDbXref	Orphanet:251370	Sickle cell-hemoglobin D disease syndrome	semapv:ManualMappingCuration
MONDO:0016671	sickle cell-hemoglobin E disease syndrome	oboInOwl:hasDbXref	Orphanet:251375	Sickle cell-hemoglobin E disease syndrome	semapv:ManualMappingCuration
MONDO:0016672	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	oboInOwl:hasDbXref	Orphanet:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	semapv:ManualMappingCuration
MONDO:0016673	localized junctional epidermolysis bullosa, non-Herlitz type	oboInOwl:hasDbXref	Orphanet:251393	Localized junctional epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0016674	46,XY partial gonadal dysgenesis	oboInOwl:hasDbXref	Orphanet:251510	46,XY partial gonadal dysgenesis	semapv:ManualMappingCuration
MONDO:0016675	distal arthrogryposis type 10	oboInOwl:hasDbXref	Orphanet:251515	Distal arthrogryposis type 10	semapv:ManualMappingCuration
MONDO:0016677	toxic or drug-related embryofetopathy	oboInOwl:hasDbXref	Orphanet:251529	Toxic or drug-related embryofetopathy	semapv:ManualMappingCuration
MONDO:0016678	obsolete maternal disease-related embryofetopathy	oboInOwl:hasDbXref	Orphanet:251535	Maternal disease-related embryofetopathy	semapv:ManualMappingCuration
MONDO:0016679	obsolete rare tumor of neuroepithelial tissue	oboInOwl:hasDbXref	Orphanet:251558	Rare tumor of neuroepithelial tissue	semapv:ManualMappingCuration
MONDO:0016680	high grade astrocytic tumor	oboInOwl:hasDbXref	Orphanet:251561	High-grade astrocytoma	semapv:ManualMappingCuration
MONDO:0016681	gliosarcoma	oboInOwl:hasDbXref	Orphanet:251576	Gliosarcoma	semapv:ManualMappingCuration
MONDO:0016682	giant cell glioblastoma	oboInOwl:hasDbXref	Orphanet:251579	Giant cell glioblastoma	semapv:ManualMappingCuration
MONDO:0016683	gliomatosis cerebri	oboInOwl:hasDbXref	Orphanet:251582	Gliomatosis cerebri	semapv:ManualMappingCuration
MONDO:0016684	anaplastic astrocytoma	oboInOwl:hasDbXref	Orphanet:251589	Anaplastic astrocytoma	semapv:ManualMappingCuration
MONDO:0016685	low-grade astrocytoma	oboInOwl:hasDbXref	Orphanet:251592	Low-grade astrocytoma	semapv:ManualMappingCuration
MONDO:0016686	diffuse astrocytoma	oboInOwl:hasDbXref	Orphanet:251595	Diffuse astrocytoma	semapv:ManualMappingCuration
MONDO:0016687	protoplasmic astrocytoma	oboInOwl:hasDbXref	Orphanet:251598	Protoplasmic astrocytoma	semapv:ManualMappingCuration
MONDO:0016688	fibrillary astrocytoma	oboInOwl:hasDbXref	Orphanet:251601	Fibrillary astrocytoma	semapv:ManualMappingCuration
MONDO:0016689	gemistocytic astrocytoma	oboInOwl:hasDbXref	Orphanet:251604	Gemistocytic astrocytoma	semapv:ManualMappingCuration
MONDO:0016690	pleomorphic xanthoastrocytoma	oboInOwl:hasDbXref	Orphanet:251607	Pleomorphic xanthoastrocytoma	semapv:ManualMappingCuration
MONDO:0016691	pilocytic astrocytoma	oboInOwl:hasDbXref	Orphanet:251612	Pilocytic astrocytoma	semapv:ManualMappingCuration
MONDO:0016692	pilomyxoid astrocytoma	oboInOwl:hasDbXref	Orphanet:251615	Pilomyxoid astrocytoma	semapv:ManualMappingCuration
MONDO:0016693	subependymal giant cell astrocytoma	oboInOwl:hasDbXref	Orphanet:251618	Subependymal giant cell astrocytoma	semapv:ManualMappingCuration
MONDO:0016695	oligodendroglioma	oboInOwl:hasDbXref	Orphanet:251627	Oligodendroglioma	semapv:ManualMappingCuration
MONDO:0016696	anaplastic oligodendroglioma	oboInOwl:hasDbXref	Orphanet:251630	Anaplastic oligodendroglioma	semapv:ManualMappingCuration
MONDO:0016697	low grade ependymoma	oboInOwl:hasDbXref	Orphanet:251633	OBSOLETE: Low-grade ependymoma	semapv:ManualMappingCuration
MONDO:0016698	ependymoma	oboInOwl:hasDbXref	Orphanet:251636	Ependymoma	semapv:ManualMappingCuration
MONDO:0016699	myxopapillary ependymoma	oboInOwl:hasDbXref	Orphanet:251643	Myxopapillary ependymoma	semapv:ManualMappingCuration
MONDO:0016700	anaplastic ependymoma	oboInOwl:hasDbXref	Orphanet:251646	Anaplastic ependymoma	semapv:ManualMappingCuration
MONDO:0016701	obsolete oligoastrocytic tumor	oboInOwl:hasDbXref	Orphanet:251651	Oligoastrocytic tumor	semapv:ManualMappingCuration
MONDO:0016702	oligoastrocytoma	oboInOwl:hasDbXref	Orphanet:251656	Oligoastrocytoma	semapv:ManualMappingCuration
MONDO:0016703	anaplastic oligoastrocytoma	oboInOwl:hasDbXref	Orphanet:251663	Anaplastic oligoastrocytoma	semapv:ManualMappingCuration
MONDO:0016704	obsolete glial tumor of neuroepithelial tissue with unknown origin	oboInOwl:hasDbXref	Orphanet:251668	Glial tumor of neuroepithelial tissue with unknown origin	semapv:ManualMappingCuration
MONDO:0016705	angiocentric glioma	oboInOwl:hasDbXref	Orphanet:251671	Angiocentric glioma	semapv:ManualMappingCuration
MONDO:0016706	chordoid glioma of the third ventricle	oboInOwl:hasDbXref	Orphanet:251674	Chordoid glioma	semapv:ManualMappingCuration
MONDO:0016707	astroblastoma	oboInOwl:hasDbXref	Orphanet:251679	Astroblastoma	semapv:ManualMappingCuration
MONDO:0016708	obsolete embryonal tumor of neuroepithelial tissue	oboInOwl:hasDbXref	Orphanet:251852	Embryonal tumor of neuroepithelial tissue	semapv:ManualMappingCuration
MONDO:0016709	anaplastic/large cell medulloblastoma	oboInOwl:hasDbXref	Orphanet:251855	Anaplastic/large cell medulloblastoma	semapv:ManualMappingCuration
MONDO:0016710	medulloblastoma with extensive nodularity	oboInOwl:hasDbXref	Orphanet:251858	Medulloblastoma with extensive nodularity	semapv:ManualMappingCuration
MONDO:0016711	desmoplastic/nodular medulloblastoma	oboInOwl:hasDbXref	Orphanet:251863	Desmoplastic/nodular medulloblastoma	semapv:ManualMappingCuration
MONDO:0016712	classic medulloblastoma	oboInOwl:hasDbXref	Orphanet:251867	Classic medulloblastoma	semapv:ManualMappingCuration
MONDO:0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	oboInOwl:hasDbXref	Orphanet:251870	Central nervous system embryonal tumor	semapv:ManualMappingCuration
MONDO:0016715	ependymoblastoma	oboInOwl:hasDbXref	Orphanet:251880	Ependymoblastoma	semapv:ManualMappingCuration
MONDO:0016717	choroid plexus neoplasm	oboInOwl:hasDbXref	Orphanet:251896	Choroid plexus tumor	semapv:ManualMappingCuration
MONDO:0016718	choroid plexus carcinoma	oboInOwl:hasDbXref	Orphanet:251899	Choroid plexus carcinoma	semapv:ManualMappingCuration
MONDO:0016719	microcephaly-seizures-intellectual disability-heart disease syndrome	oboInOwl:hasDbXref	Orphanet:2519	Microcephaly-seizures-intellectual disability-heart disease syndrome	semapv:ManualMappingCuration
MONDO:0016721	obsolete pineal tumor of neuroepithelial tissue	oboInOwl:hasDbXref	Orphanet:251905	Pineal tumor of neuroepithelial tissue	semapv:ManualMappingCuration
MONDO:0016722	pineoblastoma	oboInOwl:hasDbXref	Orphanet:251909	Pineoblastoma	semapv:ManualMappingCuration
MONDO:0016723	pineocytoma	oboInOwl:hasDbXref	Orphanet:251912	Pineocytoma	semapv:ManualMappingCuration
MONDO:0016724	papillary tumor of the pineal region	oboInOwl:hasDbXref	Orphanet:251915	Papillary tumor of the pineal region	semapv:ManualMappingCuration
MONDO:0016726	obsolete neuronal tumor	oboInOwl:hasDbXref	Orphanet:251924	Neuronal tumor	semapv:ManualMappingCuration
MONDO:0016727	extraventricular neurocytoma	oboInOwl:hasDbXref	Orphanet:251927	Extraventricular neurocytoma	semapv:ManualMappingCuration
MONDO:0016729	mixed neuronal-glial tumor	oboInOwl:hasDbXref	Orphanet:251934	Mixed neuronal-glial tumor	semapv:ManualMappingCuration
MONDO:0016730	gangliocytoma	oboInOwl:hasDbXref	Orphanet:251937	Gangliocytoma	semapv:ManualMappingCuration
MONDO:0016731	desmoplastic infantile astrocytoma/ganglioglioma	oboInOwl:hasDbXref	Orphanet:251940	Desmoplastic infantile astrocytoma/ganglioglioma	semapv:ManualMappingCuration
MONDO:0016733	ganglioglioma	oboInOwl:hasDbXref	Orphanet:251949	Ganglioglioma	semapv:ManualMappingCuration
MONDO:0016734	anaplastic ganglioglioma	oboInOwl:hasDbXref	Orphanet:251957	Anaplastic ganglioglioma	semapv:ManualMappingCuration
MONDO:0016735	papillary glioneuronal tumor	oboInOwl:hasDbXref	Orphanet:251962	Papillary glioneuronal tumor	semapv:ManualMappingCuration
MONDO:0016736	rosette-forming glioneuronal tumor of fourth ventricule	oboInOwl:hasDbXref	Orphanet:251975	Rosette-forming glioneuronal tumor	semapv:ManualMappingCuration
MONDO:0016738	obsolete primary germ cell tumor of central nervous system	oboInOwl:hasDbXref	Orphanet:251995	Primary germ cell tumor of central nervous system	semapv:ManualMappingCuration
MONDO:0016739	yolk sac tumor of central nervous system	oboInOwl:hasDbXref	Orphanet:252006	Yolk sac tumor of central nervous system	semapv:ManualMappingCuration
MONDO:0016740	choriocarcinoma of the central nervous system	oboInOwl:hasDbXref	Orphanet:252015	Choriocarcinoma of the central nervous system	semapv:ManualMappingCuration
MONDO:0016742	mixed germ cell tumor of central nervous system	oboInOwl:hasDbXref	Orphanet:252021	Mixed germ cell tumor of central nervous system	semapv:ManualMappingCuration
MONDO:0016743	tumor of meninges	oboInOwl:hasDbXref	Orphanet:252025	Tumor of meninges	semapv:ManualMappingCuration
MONDO:0016744	obsolete primary melanocytic tumor of central nervous system	oboInOwl:hasDbXref	Orphanet:252028	Primary melanocytic tumor of central nervous system	semapv:ManualMappingCuration
MONDO:0016745	diffuse leptomeningeal melanocytosis	oboInOwl:hasDbXref	Orphanet:252031	Diffuse leptomeningeal melanocytosis	semapv:ManualMappingCuration
MONDO:0016746	meningeal melanocytoma	oboInOwl:hasDbXref	Orphanet:252046	Meningeal melanocytoma	semapv:ManualMappingCuration
MONDO:0016747	primary melanoma of the central nervous system	oboInOwl:hasDbXref	Orphanet:252050	Primary melanoma of the central nervous system	semapv:ManualMappingCuration
MONDO:0016748	hemangioblastoma	oboInOwl:hasDbXref	Orphanet:252054	Hemangioblastoma	semapv:ManualMappingCuration
MONDO:0016749	tumor of cranial and spinal nerves	oboInOwl:hasDbXref	Orphanet:252057	Tumor of cranial and spinal nerves	semapv:ManualMappingCuration
MONDO:0016750	microcephaly-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:2521	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome	semapv:ManualMappingCuration
MONDO:0016751	malignant perineurioma	oboInOwl:hasDbXref	Orphanet:252128	Malignant peripheral nerve sheath tumor with perineurial differentiation	semapv:ManualMappingCuration
MONDO:0016752	benign peripheral nerve sheath tumor	oboInOwl:hasDbXref	Orphanet:252131	Benign peripheral nerve sheath tumor	semapv:ManualMappingCuration
MONDO:0016755	neurofibroma	oboInOwl:hasDbXref	Orphanet:252183	Neurofibroma	semapv:ManualMappingCuration
MONDO:0016756	obsolete inherited nervous system cancer-predisposing syndrome	oboInOwl:hasDbXref	Orphanet:252190	Inherited nervous system cancer-predisposing syndrome	semapv:ManualMappingCuration
MONDO:0016757	malignant triton tumor	oboInOwl:hasDbXref	Orphanet:252212	Malignant triton tumor	semapv:ManualMappingCuration
MONDO:0016758	microcephaly-brain defect-spasticity-hypernatremia syndrome	oboInOwl:hasDbXref	Orphanet:2523	Microcephaly-brain defect-spasticity-hypernatremia syndrome	semapv:ManualMappingCuration
MONDO:0016759	pontocerebellar hypoplasia type 2	oboInOwl:hasDbXref	Orphanet:2524	Pontocerebellar hypoplasia type 2	semapv:ManualMappingCuration
MONDO:0016760	microcephaly-microcornea syndrome, Seemanova type	oboInOwl:hasDbXref	Orphanet:2528	Microcephaly-microcornea syndrome, Seemanova type	semapv:ManualMappingCuration
MONDO:0016761	spondyloepiphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:252	OBSOLETE: Spondyloepimetaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0016762	microcornea-corectopia-macular hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:2535	OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome	semapv:ManualMappingCuration
MONDO:0016763	spondylometaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:254	Spondylometaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0016764	isolated anophthalmia-microphthalmia syndrome	oboInOwl:hasDbXref	Orphanet:2542	Isolated microphthalmia-anophthalmia-coloboma	semapv:ManualMappingCuration
MONDO:0016765	19p13.12 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:254346	19p13.12 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016766	obsolete rare lichen planus	oboInOwl:hasDbXref	Orphanet:254367	Rare lichen planus	semapv:ManualMappingCuration
MONDO:0016767	obsolete cutaneous lichen planus	oboInOwl:hasDbXref	Orphanet:254370	Rare cutaneous lichen planus	semapv:ManualMappingCuration
MONDO:0016768	obsolete rare mucosal lichen planus	oboInOwl:hasDbXref	Orphanet:254373	Rare mucosal lichen planus	semapv:ManualMappingCuration
MONDO:0016769	linear lichen planus	oboInOwl:hasDbXref	Orphanet:254379	Linear lichen planus	semapv:ManualMappingCuration
MONDO:0016770	actinic lichen planus	oboInOwl:hasDbXref	Orphanet:254395	Actinic lichen planus	semapv:ManualMappingCuration
MONDO:0016771	annular atrophic lichen planus	oboInOwl:hasDbXref	Orphanet:254411	Annular atrophic lichen planus	semapv:ManualMappingCuration
MONDO:0016772	annular lichen planus	oboInOwl:hasDbXref	Orphanet:254424	Annular lichen planus	semapv:ManualMappingCuration
MONDO:0016773	atrophic lichen planus	oboInOwl:hasDbXref	Orphanet:254449	Atrophic lichen planus	semapv:ManualMappingCuration
MONDO:0016774	lichen planus pigmentosus	oboInOwl:hasDbXref	Orphanet:254463	Lichen planus pigmentosus	semapv:ManualMappingCuration
MONDO:0016775	lichen planus pemphigoides	oboInOwl:hasDbXref	Orphanet:254478	Lichen planus pemphigoides	semapv:ManualMappingCuration
MONDO:0016776	frontal fibrosing alopecia	oboInOwl:hasDbXref	Orphanet:254492	Frontal fibrosing alopecia	semapv:ManualMappingCuration
MONDO:0016777	inhalational botulism	oboInOwl:hasDbXref	Orphanet:254504	Inhalational botulism	semapv:ManualMappingCuration
MONDO:0016778	iatrogenic botulism	oboInOwl:hasDbXref	Orphanet:254509	Iatrogenic botulism	semapv:ManualMappingCuration
MONDO:0016779	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	oboInOwl:hasDbXref	Orphanet:254519	Kagami-Ogata syndrome	semapv:ManualMappingCuration
MONDO:0016780	paternal 14q32.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:254525	Temple syndrome due to paternal 14q32.2 microdeletion	semapv:ManualMappingCuration
MONDO:0016781	maternal 14q32.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	semapv:ManualMappingCuration
MONDO:0016782	paternal 14q32.2 hypomethylation syndrome	oboInOwl:hasDbXref	Orphanet:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	semapv:ManualMappingCuration
MONDO:0016783	maternal 14q32.2 hypermethylation syndrome	oboInOwl:hasDbXref	Orphanet:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	semapv:ManualMappingCuration
MONDO:0016784	obsolete gestational trophoblastic disease	oboInOwl:hasDbXref	Orphanet:254685	Gestational trophoblastic disease	semapv:ManualMappingCuration
MONDO:0016785	complete hydatidiform mole	oboInOwl:hasDbXref	Orphanet:254688	Complete hydatidiform mole	semapv:ManualMappingCuration
MONDO:0016786	partial hydatidiform mole	oboInOwl:hasDbXref	Orphanet:254693	Partial hydatidiform mole	semapv:ManualMappingCuration
MONDO:0016787	epithelioid trophoblastic tumor	oboInOwl:hasDbXref	Orphanet:254698	Epithelioid trophoblastic tumor	semapv:ManualMappingCuration
MONDO:0016788	obsolete genetic hyperferritinemia without iron overload	oboInOwl:hasDbXref	Orphanet:254704	Genetic hyperferritinemia without iron overload	semapv:ManualMappingCuration
MONDO:0016789	pyruvate metabolism disorder	oboInOwl:hasDbXref	Orphanet:254746	Pyruvate metabolism disorder	semapv:ManualMappingCuration
MONDO:0016790	tricarboxylic acid cycle disorder	oboInOwl:hasDbXref	Orphanet:254749	Tricarboxylic acid cycle disorder	semapv:ManualMappingCuration
MONDO:0016791	obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	oboInOwl:hasDbXref	Orphanet:254758	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	semapv:ManualMappingCuration
MONDO:0016792	obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	oboInOwl:hasDbXref	Orphanet:254767	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	semapv:ManualMappingCuration
MONDO:0016793	obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	oboInOwl:hasDbXref	Orphanet:254776	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	semapv:ManualMappingCuration
MONDO:0016794	obsolete maternally-inherited mitochondrial myopathy	oboInOwl:hasDbXref	Orphanet:254788	Mitochondrial DNA-related mitochondrial myopathy	semapv:ManualMappingCuration
MONDO:0016795	obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	oboInOwl:hasDbXref	Orphanet:254793	OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	semapv:ManualMappingCuration
MONDO:0016796	mitochondrial DNA depletion syndrome, encephalomyopathic form	oboInOwl:hasDbXref	Orphanet:254803	Mitochondrial DNA depletion syndrome, encephalomyopathic form	semapv:ManualMappingCuration
MONDO:0016797	obsolete multiple mitochondrial DNA deletion syndrome	oboInOwl:hasDbXref	Orphanet:254807	Multiple mitochondrial DNA deletion syndrome	semapv:ManualMappingCuration
MONDO:0016798	ataxia neuropathy spectrum	oboInOwl:hasDbXref	Orphanet:254818	Ataxia neuropathy spectrum	semapv:ManualMappingCuration
MONDO:0016799	obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism	oboInOwl:hasDbXref	Orphanet:254822	Mitochondrial oxidative phosphorylation disorder with no known mechanism	semapv:ManualMappingCuration
MONDO:0016800	mitochondrial membrane transport disorder	oboInOwl:hasDbXref	Orphanet:254827	Mitochondrial membrane transport disorder	semapv:ManualMappingCuration
MONDO:0016801	mitochondrial substrate carrier disorder	oboInOwl:hasDbXref	Orphanet:254830	Mitochondrial substrate carrier disorder	semapv:ManualMappingCuration
MONDO:0016802	mitochondrial protein import disorder	oboInOwl:hasDbXref	Orphanet:254834	Mitochondrial protein import disorder	semapv:ManualMappingCuration
MONDO:0016803	obsolete unspecified inborn mitochondrial disorder	oboInOwl:hasDbXref	Orphanet:254837	Unspecified mitochondrial disorder	semapv:ManualMappingCuration
MONDO:0016804	obsolete exercise intolerance with lactic acidosis	oboInOwl:hasDbXref	Orphanet:254843	Exercise intolerance with lactic acidosis	semapv:ManualMappingCuration
MONDO:0016805	obsolete isolated oxidative phosphorylation complex disorder	oboInOwl:hasDbXref	Orphanet:254846	Isolated oxidative phosphorylation complex disorder	semapv:ManualMappingCuration
MONDO:0016806	maternally-inherited mitochondrial dystonia	oboInOwl:hasDbXref	Orphanet:254851	Mitochondrial DNA-related dystonia	semapv:ManualMappingCuration
MONDO:0016807	pure mitochondrial myopathy	oboInOwl:hasDbXref	Orphanet:254854	Pure mitochondrial myopathy	semapv:ManualMappingCuration
MONDO:0016809	spinocerebellar ataxia with epilepsy	oboInOwl:hasDbXref	Orphanet:254881	Spinocerebellar ataxia with epilepsy	semapv:ManualMappingCuration
MONDO:0016810	autosomal recessive progressive external ophthalmoplegia	oboInOwl:hasDbXref	Orphanet:254886	Autosomal recessive progressive external ophthalmoplegia	semapv:ManualMappingCuration
MONDO:0016811	renal tubulopathy-encephalopathy-liver failure syndrome	oboInOwl:hasDbXref	Orphanet:254902	Renal tubulopathy-encephalopathy-liver failure syndrome	semapv:ManualMappingCuration
MONDO:0016812	dopa-responsive dystonia	oboInOwl:hasDbXref	Orphanet:255	Dopa-responsive dystonia	semapv:ManualMappingCuration
MONDO:0016814	maternally-inherited Leigh syndrome	oboInOwl:hasDbXref	Orphanet:255210	Mitochondrial DNA-associated Leigh syndrome	semapv:ManualMappingCuration
MONDO:0016815	obsolete Leigh syndrome with leukodystrophy	oboInOwl:hasDbXref	Orphanet:255241	Leigh syndrome with leukodystrophy	semapv:ManualMappingCuration
MONDO:0016816	obsolete Leigh syndrome with nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:255249	Leigh syndrome with nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0016817	Meier-Gorlin syndrome	oboInOwl:hasDbXref	Orphanet:2554	Ear-patella-short stature syndrome	semapv:ManualMappingCuration
MONDO:0016818	Mikati-Najjar-Sahli syndrome	oboInOwl:hasDbXref	Orphanet:2558	Mikati-Najjar-Sahli syndrome	semapv:ManualMappingCuration
MONDO:0016819	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	oboInOwl:hasDbXref	Orphanet:2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:0016820	Moyamoya disease	oboInOwl:hasDbXref	Orphanet:2573	Moyamoya disease	semapv:ManualMappingCuration
MONDO:0016821	shoulder and girdle defects-familial intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2580	OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0016822	myalgia-eosinophilia syndrome associated with tryptophan	oboInOwl:hasDbXref	Orphanet:2582	Myalgia-eosinophilia syndrome associated with tryptophan	semapv:ManualMappingCuration
MONDO:0016823	mycetoma	oboInOwl:hasDbXref	Orphanet:2583	Mycetoma	semapv:ManualMappingCuration
MONDO:0016824	infantile myofibromatosis	oboInOwl:hasDbXref	Orphanet:2591	Infantile myofibromatosis	semapv:ManualMappingCuration
MONDO:0016825	mitochondrial myopathy-lactic acidosis-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2597	Mitochondrial myopathy-lactic acidosis-deafness syndrome	semapv:ManualMappingCuration
MONDO:0016826	methylmalonic aciduria and homocystinuria	oboInOwl:hasDbXref	Orphanet:26	Methylmalonic acidemia with homocystinuria	semapv:ManualMappingCuration
MONDO:0016827	myopathy-growth delay-intellectual disability-hypospadias syndrome	oboInOwl:hasDbXref	Orphanet:2601	OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome	semapv:ManualMappingCuration
MONDO:0016828	autosomal recessive sideroblastic anemia	oboInOwl:hasDbXref	Orphanet:260305	Autosomal recessive sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0016829	familial visceral myopathy	oboInOwl:hasDbXref	Orphanet:2604	Familial visceral myopathy	semapv:ManualMappingCuration
MONDO:0016830	Emery-Dreifuss muscular dystrophy	oboInOwl:hasDbXref	Orphanet:261	Emery-Dreifuss muscular dystrophy	semapv:ManualMappingCuration
MONDO:0016831	linear verrucous nevus syndrome	oboInOwl:hasDbXref	Orphanet:2611	Linear verrucous nevus syndrome	semapv:ManualMappingCuration
MONDO:0016832	distal 7q11.23 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:261102	Distal 7q11.23 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016833	14q12 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261144	FOXG1 syndrome due to 14q12 microdeletion	semapv:ManualMappingCuration
MONDO:0016834	16p11.2p12.2 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:261204	16p11.2p12.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016835	14q11.2 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:261229	14q11.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016836	16p13.11 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261236	16p13.11 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016837	16p13.11 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:261243	16p13.11 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016838	16q24.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261250	16q24.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016839	distal 17p13.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261257	Distal 17p13.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016840	trisomy 17p	oboInOwl:hasDbXref	Orphanet:261290	Trisomy 17p syndrome	semapv:ManualMappingCuration
MONDO:0016841	20p12.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261295	20p12.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016842	paternal 20q13.2q13.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261304	Paternal 20q13.2q13.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016843	20q13.33 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261311	20q13.33 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016844	trisomy 20p	oboInOwl:hasDbXref	Orphanet:261318	Trisomy 20p syndrome	semapv:ManualMappingCuration
MONDO:0016845	21q22.11q22.12 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:261323	21q22.11q22.12 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0016846	distal 22q11.2 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:261337	Distal 22q11.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0016847	trisomy 1q	oboInOwl:hasDbXref	Orphanet:261344	Trisomy 1q syndrome	semapv:ManualMappingCuration
MONDO:0016848	juvenile temporal arteritis	oboInOwl:hasDbXref	Orphanet:26137	Juvenile temporal arteritis	semapv:ManualMappingCuration
MONDO:0016850	atypical Norrie disease due to monosomy Xp11.3	oboInOwl:hasDbXref	Orphanet:261501	Atypical Norrie disease due to Xp11.3 microdeletion	semapv:ManualMappingCuration
MONDO:0016851	maternal uniparental disomy of chromosome X	oboInOwl:hasDbXref	Orphanet:261519	Maternal uniparental disomy of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0016852	paternal uniparental disomy of chromosome X	oboInOwl:hasDbXref	Orphanet:261524	Paternal uniparental disomy of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0016853	ring chromosome Y	oboInOwl:hasDbXref	Orphanet:261529	Ring chromosome Y syndrome	semapv:ManualMappingCuration
MONDO:0016854	49,XXXYY syndrome	oboInOwl:hasDbXref	Orphanet:261534	49,XXXYY syndrome	semapv:ManualMappingCuration
MONDO:0016855	Mowat-Wilson syndrome due to monosomy 2q22	oboInOwl:hasDbXref	Orphanet:261537	Mowat-Wilson syndrome due to monosomy 2q22	semapv:ManualMappingCuration
MONDO:0016856	Mowat-Wilson syndrome due to a ZEB2 point mutation	oboInOwl:hasDbXref	Orphanet:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	semapv:ManualMappingCuration
MONDO:0016857	blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	oboInOwl:hasDbXref	Orphanet:261559	OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	semapv:ManualMappingCuration
MONDO:0016858	blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	oboInOwl:hasDbXref	Orphanet:261572	OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	semapv:ManualMappingCuration
MONDO:0016859	blepharophimosis-epicanthus inversus-ptosis due to copy number variations	oboInOwl:hasDbXref	Orphanet:261579	OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations	semapv:ManualMappingCuration
MONDO:0016860	familial adenomatous polyposis due to 5q22.2 microdeletion	oboInOwl:hasDbXref	Orphanet:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	semapv:ManualMappingCuration
MONDO:0016861	Alagille syndrome due to 20p12 microdeletion	oboInOwl:hasDbXref	Orphanet:261600	Alagille syndrome due to 20p12 microdeletion	semapv:ManualMappingCuration
MONDO:0016862	Alagille syndrome due to a JAG1 point mutation	oboInOwl:hasDbXref	Orphanet:261619	Alagille syndrome due to a JAG1 point mutation	semapv:ManualMappingCuration
MONDO:0016863	Okihiro syndrome due to 20q13 microdeletion	oboInOwl:hasDbXref	Orphanet:261638	Okihiro syndrome due to 20q13 microdeletion	semapv:ManualMappingCuration
MONDO:0016864	Okihiro syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:261647	Okihiro syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0016865	Kleefstra syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:261652	Kleefstra syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0016866	partial deletion of chromosome 1	oboInOwl:hasDbXref	Orphanet:261766	Partial deletion of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0016867	partial deletion of chromosome 2	oboInOwl:hasDbXref	Orphanet:261771	Partial deletion of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0016868	partial deletion of chromosome 3	oboInOwl:hasDbXref	Orphanet:261776	Partial deletion of chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0016869	partial deletion of chromosome 4	oboInOwl:hasDbXref	Orphanet:261781	Partial deletion of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0016870	partial deletion of chromosome 5	oboInOwl:hasDbXref	Orphanet:261786	Partial deletion of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016871	partial deletion of chromosome 6	oboInOwl:hasDbXref	Orphanet:261791	Partial deletion of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0016872	partial deletion of chromosome 7	oboInOwl:hasDbXref	Orphanet:261796	Partial deletion of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0016873	partial deletion of chromosome 8	oboInOwl:hasDbXref	Orphanet:261801	Partial deletion of chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0016874	partial deletion of chromosome 9	oboInOwl:hasDbXref	Orphanet:261806	Partial deletion of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0016875	partial deletion of chromosome 10	oboInOwl:hasDbXref	Orphanet:261811	Partial deletion of chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0016876	partial deletion of chromosome 11	oboInOwl:hasDbXref	Orphanet:261816	Partial deletion of chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0016877	partial deletion of the long arm of chromosome 12	oboInOwl:hasDbXref	Orphanet:261821	Partial deletion of the long arm of chromosome 12 syndrome	semapv:ManualMappingCuration
MONDO:0016878	partial deletion of chromosome 16	oboInOwl:hasDbXref	Orphanet:261826	Partial deletion of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0016879	partial deletion of chromosome 17	oboInOwl:hasDbXref	Orphanet:261831	Partial deletion of chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0016880	partial deletion of chromosome 18	oboInOwl:hasDbXref	Orphanet:261836	Partial deletion of chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0016881	partial deletion of chromosome 19	oboInOwl:hasDbXref	Orphanet:261841	Partial deletion of chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0016882	partial deletion of chromosome 20	oboInOwl:hasDbXref	Orphanet:261846	Partial deletion of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0016883	partial deletion of the short arm of chromosome 1	oboInOwl:hasDbXref	Orphanet:261857	Partial deletion of the short arm of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0016884	partial deletion of the short arm of chromosome 2	oboInOwl:hasDbXref	Orphanet:261866	Partial deletion of the short arm of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0016885	partial deletion of the short arm of chromosome 3	oboInOwl:hasDbXref	Orphanet:261875	Partial deletion of the short arm of chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0016887	partial deletion of the short arm of chromosome 5	oboInOwl:hasDbXref	Orphanet:261893	Partial deletion of the short arm of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016888	partial deletion of the short arm of chromosome 6	oboInOwl:hasDbXref	Orphanet:261902	Partial deletion of the short arm of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0016889	partial deletion of the short arm of chromosome 7	oboInOwl:hasDbXref	Orphanet:261911	Partial deletion of the short arm of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0016890	partial deletion of the short arm of chromosome 8	oboInOwl:hasDbXref	Orphanet:261920	Partial deletion of the short arm of chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0016891	obsolete partial deletion of the short arm of chromosome 9	oboInOwl:hasDbXref	Orphanet:261929	Partial deletion of the short arm of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0016892	partial deletion of the short arm of chromosome 10	oboInOwl:hasDbXref	Orphanet:261938	Partial deletion of the short arm of chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0016893	partial deletion of the short arm of chromosome 11	oboInOwl:hasDbXref	Orphanet:261947	Partial deletion of the short arm of chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0016894	partial deletion of the short arm of chromosome 16	oboInOwl:hasDbXref	Orphanet:261956	Partial deletion of the short arm of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0016897	partial deletion of the short arm of chromosome 19	oboInOwl:hasDbXref	Orphanet:261983	Partial deletion of the short arm of chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0016898	partial monosomy of the short arm of chromosome 20	oboInOwl:hasDbXref	Orphanet:261992	Partial deletion of the short arm of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0016899	obsolete Duchenne and Becker muscular dystrophy	oboInOwl:hasDbXref	Orphanet:262	Duchenne and Becker muscular dystrophy	semapv:ManualMappingCuration
MONDO:0016901	partial deletion of the long arm of chromosome 2	oboInOwl:hasDbXref	Orphanet:262010	Partial deletion of the long arm of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0016902	partial deletion of the long arm of chromosome 3	oboInOwl:hasDbXref	Orphanet:262019	Partial deletion of the long arm of chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0016903	partial deletion of the long arm of chromosome 4	oboInOwl:hasDbXref	Orphanet:262029	Partial deletion of the long arm of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0016904	partial deletion of the long arm of chromosome 5	oboInOwl:hasDbXref	Orphanet:262038	Partial deletion of the long arm of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016905	partial deletion of the long arm of chromosome 6	oboInOwl:hasDbXref	Orphanet:262047	Partial deletion of the long arm of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0016906	partial deletion of the long arm of chromosome 7	oboInOwl:hasDbXref	Orphanet:262056	Partial deletion of the long arm of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0016907	partial deletion of the long arm of chromosome 8	oboInOwl:hasDbXref	Orphanet:262065	Partial deletion of the long arm of chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0016908	partial monosomy of the long arm of chromosome 9	oboInOwl:hasDbXref	Orphanet:262074	Partial deletion of the long arm of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0016909	partial monosomy of the long arm of chromosome 10	oboInOwl:hasDbXref	Orphanet:262083	Partial deletion of the long arm of chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0016910	partial deletion of the long arm of chromosome 11	oboInOwl:hasDbXref	Orphanet:262092	Partial deletion of the long arm of chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0016911	partial deletion of the long arm of chromosome 13	oboInOwl:hasDbXref	Orphanet:262101	Partial deletion of the long arm of chromosome 13 syndrome	semapv:ManualMappingCuration
MONDO:0016912	partial deletion of the long arm of chromosome 14	oboInOwl:hasDbXref	Orphanet:262110	Partial deletion of the long arm of chromosome 14 syndrome	semapv:ManualMappingCuration
MONDO:0016913	partial deletion of the long arm of chromosome 15	oboInOwl:hasDbXref	Orphanet:262119	Partial deletion of the long arm of chromosome 15 syndrome	semapv:ManualMappingCuration
MONDO:0016914	partial deletion of the long arm of chromosome 16	oboInOwl:hasDbXref	Orphanet:262128	Partial deletion of the long arm of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0016915	partial deletion of the long arm of chromosome 17	oboInOwl:hasDbXref	Orphanet:262137	Partial deletion of the long arm of chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0016917	partial deletion of the long arm of chromosome 19	oboInOwl:hasDbXref	Orphanet:262155	Partial deletion of the long arm of chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0016918	partial deletion of the long arm of chromosome 20	oboInOwl:hasDbXref	Orphanet:262164	Partial deletion of the long arm of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0016919	partial deletion of the long arm of chromosome 21	oboInOwl:hasDbXref	Orphanet:262173	Partial deletion of the long arm of chromosome 21 syndrome	semapv:ManualMappingCuration
MONDO:0016921	partial duplication of chromosome 1	oboInOwl:hasDbXref	Orphanet:262191	Partial duplication of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0016922	partial duplication of chromosome 2	oboInOwl:hasDbXref	Orphanet:262196	Partial duplication of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0016923	partial duplication of chromosome 3	oboInOwl:hasDbXref	Orphanet:262201	Partial duplication of chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0016924	partial duplication of chromosome 4	oboInOwl:hasDbXref	Orphanet:262206	Partial duplication of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0016925	partial trisomy/tetrasomy of chromosome 5	oboInOwl:hasDbXref	Orphanet:262211	Partial duplication/triplication of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016927	partial duplication of chromosome 6	oboInOwl:hasDbXref	Orphanet:262628	Partial duplication of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0016928	partial duplication of chromosome 7	oboInOwl:hasDbXref	Orphanet:262633	Partial duplication of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0016929	partial duplication of chromosome 8	oboInOwl:hasDbXref	Orphanet:262638	Partial duplication of chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0016930	partial trisomy/tetrasomy of chromosome 9	oboInOwl:hasDbXref	Orphanet:262643	Partial duplication/triplication of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0016931	partial duplication of chromosome 10	oboInOwl:hasDbXref	Orphanet:262648	Partial duplication of chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0016932	partial duplication of chromosome 11	oboInOwl:hasDbXref	Orphanet:262653	Partial duplication of chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0016933	partial trisomy/tetrasomy of the short arm of chromosome 12	oboInOwl:hasDbXref	Orphanet:262658	Partial duplication/triplication of the short arm of chromosome 12 syndrome	semapv:ManualMappingCuration
MONDO:0016934	partial duplication of chromosome 16	oboInOwl:hasDbXref	Orphanet:262672	Partial duplication of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0016935	partial duplication of chromosome 17	oboInOwl:hasDbXref	Orphanet:262677	Partial duplication of chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0016936	partial trisomy/tetrasomy of chromosome 18	oboInOwl:hasDbXref	Orphanet:262682	Partial duplication/triplication of chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0016937	partial duplication of chromosome 19	oboInOwl:hasDbXref	Orphanet:262687	Partial duplication of chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0016938	partial trisomy of chromosome 20	oboInOwl:hasDbXref	Orphanet:262692	Partial duplication of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0016939	partial duplication of the short arm of chromosome 2	oboInOwl:hasDbXref	Orphanet:262698	Partial duplication of the short arm of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0016940	partial duplication of the short arm of chromosome 3	oboInOwl:hasDbXref	Orphanet:262707	Partial duplication of the short arm of chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0016941	partial duplication of the short arm of chromosome 4	oboInOwl:hasDbXref	Orphanet:262716	Partial duplication of the short arm of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0016942	partial trisomy/tetrasomy of the short arm of chromosome 5	oboInOwl:hasDbXref	Orphanet:262725	Partial duplication/triplication of the short arm of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016943	partial duplication of the short arm of chromosome 6	oboInOwl:hasDbXref	Orphanet:262740	Partial duplication of the short arm of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0016944	partial duplication of the short arm of chromosome 7	oboInOwl:hasDbXref	Orphanet:262749	Partial duplication of the short arm of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0016945	partial duplication of the short arm of chromosome 8	oboInOwl:hasDbXref	Orphanet:262758	Partial duplication of the short arm of chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0016947	partial duplication of the short arm of chromosome 10	oboInOwl:hasDbXref	Orphanet:262776	Partial duplication of the short arm of chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0016948	partial duplication of the short arm of chromosome 11	oboInOwl:hasDbXref	Orphanet:262785	Partial duplication of the short arm of chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0016949	partial duplication of the short arm of chromosome 16	oboInOwl:hasDbXref	Orphanet:262794	Partial duplication of the short arm of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0016950	partial duplication of the short arm of chromosome 17	oboInOwl:hasDbXref	Orphanet:262803	Partial duplication of the short arm of chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0016951	partial trisomy/tetrasomy of the short arm of chromosome 18	oboInOwl:hasDbXref	Orphanet:262812	Partial duplication/triplication of the short arm of chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0016952	partial duplication of the long arm of chromosome 1	oboInOwl:hasDbXref	Orphanet:262833	Partial duplication of the long arm of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0016953	partial duplication of the long arm of chromosome 2	oboInOwl:hasDbXref	Orphanet:262842	Partial duplication of the long arm of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0016954	partial duplication of the long arm of chromosome 3	oboInOwl:hasDbXref	Orphanet:262851	Partial duplication of the long arm of chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0016955	partial duplication of the long arm of chromosome 4	oboInOwl:hasDbXref	Orphanet:262860	Partial duplication of the long arm of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0016956	partial trisomy of the long arm of chromosome 5	oboInOwl:hasDbXref	Orphanet:262869	Partial duplication of the long arm of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0016957	partial duplication of the long arm of chromosome 6	oboInOwl:hasDbXref	Orphanet:262878	Partial duplication of the long arm of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0016958	partial duplication of the long arm of chromosome 7	oboInOwl:hasDbXref	Orphanet:262887	Partial duplication of the long arm of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0016959	partial duplication of the long arm of chromosome 8	oboInOwl:hasDbXref	Orphanet:262896	Partial duplication of the long arm of chromosome 8 syndrome	semapv:ManualMappingCuration
MONDO:0016960	partial trisomy of the long arm of chromosome 9	oboInOwl:hasDbXref	Orphanet:262905	Partial duplication of the long arm of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0016961	partial duplication of the long arm of chromosome 10	oboInOwl:hasDbXref	Orphanet:262914	Partial duplication of the long arm of chromosome 10 syndrome	semapv:ManualMappingCuration
MONDO:0016964	partial duplication of the long arm of chromosome 14	oboInOwl:hasDbXref	Orphanet:262941	Partial duplication of the long arm of chromosome 14 syndrome	semapv:ManualMappingCuration
MONDO:0016965	partial duplication of the long arm of chromosome 15	oboInOwl:hasDbXref	Orphanet:262950	Partial duplication of the long arm of chromosome 15 syndrome	semapv:ManualMappingCuration
MONDO:0016966	partial trisomy of the long arm of chromosome 16	oboInOwl:hasDbXref	Orphanet:262959	Partial duplication of the long arm of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0016967	partial duplication of the long arm of chromosome 17	oboInOwl:hasDbXref	Orphanet:262968	Partial duplication of the long arm of chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0016968	partial trisomy of the long arm of chromosome 18	oboInOwl:hasDbXref	Orphanet:262977	Partial duplication of the long arm of chromosome 18 syndrome	semapv:ManualMappingCuration
MONDO:0016969	partial duplication of the long arm of chromosome 19	oboInOwl:hasDbXref	Orphanet:262986	Partial duplication of the long arm of chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0016970	partial trisomy of the long arm of chromosome 20	oboInOwl:hasDbXref	Orphanet:262995	Partial duplication of the long arm of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0016971	limb-girdle muscular dystrophy	oboInOwl:hasDbXref	Orphanet:263	Limb-girdle muscular dystrophy	semapv:ManualMappingCuration
MONDO:0016972	partial duplication of the long arm of chromosome 22	oboInOwl:hasDbXref	Orphanet:263004	Partial duplication of the long arm of chromosome 22 syndrome	semapv:ManualMappingCuration
MONDO:0016974	thymoma type B	oboInOwl:hasDbXref	Orphanet:263317	Thymoma type B	semapv:ManualMappingCuration
MONDO:0016975	thymoma type AB	oboInOwl:hasDbXref	Orphanet:263324	Thymoma type AB	semapv:ManualMappingCuration
MONDO:0016976	well-differentiated thymic neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:263331	Well-differentiated thymic neuroendocrine carcinoma	semapv:ManualMappingCuration
MONDO:0016977	moderately-differentiated thymic neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:263335	Moderately-differentiated thymic neuroendocrine carcinoma	semapv:ManualMappingCuration
MONDO:0016978	poorly differentiated thymic neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:263339	Poorly differentiated thymic neuroendocrine carcinoma	semapv:ManualMappingCuration
MONDO:0016979	MRCS syndrome	oboInOwl:hasDbXref	Orphanet:263347	MRCS syndrome	semapv:ManualMappingCuration
MONDO:0016980	ATR-X-related syndrome	oboInOwl:hasDbXref	Orphanet:263355	OBSOLETE: ATR-X-related syndrome	semapv:ManualMappingCuration
MONDO:0016981	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	oboInOwl:hasDbXref	Orphanet:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	semapv:ManualMappingCuration
MONDO:0016982	angiosarcoma	oboInOwl:hasDbXref	Orphanet:263413	Angiosarcoma	semapv:ManualMappingCuration
MONDO:0016983	Bartter syndrome with hypocalcemia	oboInOwl:hasDbXref	Orphanet:263417	Bartter syndrome with hypocalcemia	semapv:ManualMappingCuration
MONDO:0016984	nevus of Ota	oboInOwl:hasDbXref	Orphanet:263425	Nevus of Ota	semapv:ManualMappingCuration
MONDO:0016985	nevus of Ito	oboInOwl:hasDbXref	Orphanet:263432	Nevus of Ito	semapv:ManualMappingCuration
MONDO:0016986	congenital smooth muscle hamartoma	oboInOwl:hasDbXref	Orphanet:263435	Congenital smooth muscle hamartoma	semapv:ManualMappingCuration
MONDO:0016987	neuroacanthocytosis	oboInOwl:hasDbXref	Orphanet:263440	Neuroacanthocytosis	semapv:ManualMappingCuration
MONDO:0016988	hyperinsulinism due to HNF4A deficiency	oboInOwl:hasDbXref	Orphanet:263455	Congenital hyperinsulinism due to HNF4A deficiency	semapv:ManualMappingCuration
MONDO:0016989	Fuchs heterochromic iridocyclitis	oboInOwl:hasDbXref	Orphanet:263479	Fuchs heterochromic iridocyclitis	semapv:ManualMappingCuration
MONDO:0016990	acquired prothrombin deficiency	oboInOwl:hasDbXref	Orphanet:26348	Acquired prothrombin deficiency	semapv:ManualMappingCuration
MONDO:0016991	acute necrotizing encephalopathy of childhood	oboInOwl:hasDbXref	Orphanet:263524	Acute necrotizing encephalopathy of childhood	semapv:ManualMappingCuration
MONDO:0016993	generalized peeling skin syndrome type C	oboInOwl:hasDbXref	Orphanet:263558	OBSOLETE: Peeling skin syndrome type C	semapv:ManualMappingCuration
MONDO:0016994	microcephalic osteodysplastic primordial dwarfism types I and III	oboInOwl:hasDbXref	Orphanet:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	semapv:ManualMappingCuration
MONDO:0016995	familial multiple meningioma	oboInOwl:hasDbXref	Orphanet:263662	Familial multiple meningioma	semapv:ManualMappingCuration
MONDO:0016996	NK-cell enteropathy	oboInOwl:hasDbXref	Orphanet:263665	NK-cell enteropathy	semapv:ManualMappingCuration
MONDO:0016997	obsolete hereditary epidermolysis bullosa associated with ocular features	oboInOwl:hasDbXref	Orphanet:263676	OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features	semapv:ManualMappingCuration
MONDO:0016998	obsolete complex chromosomal rearrangement	oboInOwl:hasDbXref	Orphanet:263708	Complex chromosomal rearrangement syndrome	semapv:ManualMappingCuration
MONDO:0016999	obsolete X chromosome number anomaly	oboInOwl:hasDbXref	Orphanet:263714	X chromosome number anomaly syndrome	semapv:ManualMappingCuration
MONDO:0017000	obsolete X chromosome number anomaly with female phenotype	oboInOwl:hasDbXref	Orphanet:263717	X chromosome number anomaly with female phenotype syndrome	semapv:ManualMappingCuration
MONDO:0017001	obsolete X chromosome number anomaly with male phenotype	oboInOwl:hasDbXref	Orphanet:263720	X chromosome number anomaly with male phenotype syndrome	semapv:ManualMappingCuration
MONDO:0017002	obsolete polysomy of X chromosome	oboInOwl:hasDbXref	Orphanet:263723	Polysomy of X chromosome syndrome	semapv:ManualMappingCuration
MONDO:0017003	partial deletion of chromosome X	oboInOwl:hasDbXref	Orphanet:263726	Partial deletion of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017004	partial monosomy of the short arm of chromosome X	oboInOwl:hasDbXref	Orphanet:263731	Partial deletion of the short arm of the chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017005	obsolete Y chromosome number anomaly	oboInOwl:hasDbXref	Orphanet:263746	Y chromosome number anomaly syndrome	semapv:ManualMappingCuration
MONDO:0017006	obsolete X and Y chromosomal anomaly	oboInOwl:hasDbXref	Orphanet:263749	X and Y chromosomal anomaly syndrome	semapv:ManualMappingCuration
MONDO:0017007	partial deletion of the long arm of chromosome X	oboInOwl:hasDbXref	Orphanet:263756	Partial deletion of the long arm of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017008	partial duplication of chromosome X	oboInOwl:hasDbXref	Orphanet:263768	Partial duplication of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017009	partial duplication of the short arm of chromosome X	oboInOwl:hasDbXref	Orphanet:263775	Partial duplication of the short arm of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017010	partial duplication of the long arm of chromosome X	oboInOwl:hasDbXref	Orphanet:263783	Partial duplication of the long arm of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017011	obsolete uniparental disomy of chromosome X	oboInOwl:hasDbXref	Orphanet:263793	Uniparental disomy of chromosome X syndrome	semapv:ManualMappingCuration
MONDO:0017012	partial duplication of the short arm of chromosome 1	oboInOwl:hasDbXref	Orphanet:264431	Partial duplication of the short arm of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0017013	trisomy 8p	oboInOwl:hasDbXref	Orphanet:264450	Trisomy 8p syndrome	semapv:ManualMappingCuration
MONDO:0017014	interstitial lung disease specific to childhood	oboInOwl:hasDbXref	Orphanet:264656	Interstitial lung disease specific to childhood	semapv:ManualMappingCuration
MONDO:0017015	primary interstitial lung disease specific to childhood	oboInOwl:hasDbXref	Orphanet:264665	Primary interstitial lung disease specific to childhood	semapv:ManualMappingCuration
MONDO:0017016	obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder	oboInOwl:hasDbXref	Orphanet:264670	Primary interstitial lung disease specific to childhood due to alveolar structure disorder	semapv:ManualMappingCuration
MONDO:0017017	obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder	oboInOwl:hasDbXref	Orphanet:264683	Primary interstitial lung disease specific to childhood due to alveolar vascular disorder	semapv:ManualMappingCuration
MONDO:0017018	isolated pulmonary capillaritis	oboInOwl:hasDbXref	Orphanet:264691	Isolated pulmonary capillaritis	semapv:ManualMappingCuration
MONDO:0017019	interstitial lung disease specific to infancy	oboInOwl:hasDbXref	Orphanet:264694	Interstitial lung disease specific to infancy	semapv:ManualMappingCuration
MONDO:0017020	obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease	oboInOwl:hasDbXref	Orphanet:264699	Secondary interstitial lung disease specific to childhood associated with a systemic disease	semapv:ManualMappingCuration
MONDO:0017021	obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease	oboInOwl:hasDbXref	Orphanet:264704	Secondary interstitial lung disease specific to childhood associated with a connective tissue disease	semapv:ManualMappingCuration
MONDO:0017022	obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis	oboInOwl:hasDbXref	Orphanet:264709	Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis	semapv:ManualMappingCuration
MONDO:0017023	obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease	oboInOwl:hasDbXref	Orphanet:264714	Secondary interstitial lung disease specific to childhood associated with a granulomatous disease	semapv:ManualMappingCuration
MONDO:0017024	obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease	oboInOwl:hasDbXref	Orphanet:264719	Secondary interstitial lung disease specific to childhood associated with a metabolic disease	semapv:ManualMappingCuration
MONDO:0017025	Langerhans cell histiocytosis specific to childhood	oboInOwl:hasDbXref	Orphanet:264724	OBSOLETE: Langerhans cell histiocytosis specific to childhood	semapv:ManualMappingCuration
MONDO:0017026	interstitial lung disease specific to adulthood	oboInOwl:hasDbXref	Orphanet:264735	Interstitial lung disease specific to adulthood	semapv:ManualMappingCuration
MONDO:0017027	obsolete primary interstitial lung disease specific to adulthood	oboInOwl:hasDbXref	Orphanet:264740	Primary interstitial lung disease specific to adulthood	semapv:ManualMappingCuration
MONDO:0017028	obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease	oboInOwl:hasDbXref	Orphanet:264745	Secondary interstitial lung disease specific to adulthood associated with a systemic disease	semapv:ManualMappingCuration
MONDO:0017029	Langerhans cell histiocytosis specific to adulthood	oboInOwl:hasDbXref	Orphanet:264750	OBSOLETE: Langerhans cell histiocytosis specific to adulthood	semapv:ManualMappingCuration
MONDO:0017030	obsolete interstitial lung disease in childhood and adulthood	oboInOwl:hasDbXref	Orphanet:264757	Interstitial lung disease in childhood and adulthood	semapv:ManualMappingCuration
MONDO:0017031	obsolete primary interstitial lung disease in childhood and adulthood	oboInOwl:hasDbXref	Orphanet:264762	Primary interstitial lung disease in childhood and adulthood	semapv:ManualMappingCuration
MONDO:0017032	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder	oboInOwl:hasDbXref	Orphanet:264930	Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder	semapv:ManualMappingCuration
MONDO:0017033	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder	oboInOwl:hasDbXref	Orphanet:264935	Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder	semapv:ManualMappingCuration
MONDO:0017034	obsolete secondary interstitial lung disease in childhood and adulthood	oboInOwl:hasDbXref	Orphanet:264944	Secondary interstitial lung disease in childhood and adulthood	semapv:ManualMappingCuration
MONDO:0017035	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	oboInOwl:hasDbXref	Orphanet:264949	Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	semapv:ManualMappingCuration
MONDO:0017036	obsolete Langerhans cell histiocytosis in childhood and adulthood	oboInOwl:hasDbXref	Orphanet:264955	OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood	semapv:ManualMappingCuration
MONDO:0017037	obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	oboInOwl:hasDbXref	Orphanet:264968	Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	semapv:ManualMappingCuration
MONDO:0017038	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	oboInOwl:hasDbXref	Orphanet:264973	Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	semapv:ManualMappingCuration
MONDO:0017039	drug or radiation exposure-related interstitial lung disease	oboInOwl:hasDbXref	Orphanet:264978	Drug or radiation exposure-related interstitial lung disease	semapv:ManualMappingCuration
MONDO:0017040	obsolete exposure-related interstitial lung disease	oboInOwl:hasDbXref	Orphanet:264984	Exposure-related interstitial lung disease	semapv:ManualMappingCuration
MONDO:0017041	osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:2653	OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0017042	thanatophoric dysplasia	oboInOwl:hasDbXref	Orphanet:2655	Thanatophoric dysplasia	semapv:ManualMappingCuration
MONDO:0017043	congenital mesoblastic nephroma	oboInOwl:hasDbXref	Orphanet:2665	Congenital mesoblastic nephroma	semapv:ManualMappingCuration
MONDO:0017044	adult familial nephronophthisis-spastic quadriparesia syndrome	oboInOwl:hasDbXref	Orphanet:2666	Adult familial nephronophthisis-spastic quadriparesia syndrome	semapv:ManualMappingCuration
MONDO:0017045	neuroectodermal-endocrine syndrome	oboInOwl:hasDbXref	Orphanet:2676	Neuroectodermal-endocrine syndrome	semapv:ManualMappingCuration
MONDO:0017046	neuroepithelioma	oboInOwl:hasDbXref	Orphanet:2677	OBSOLETE: Neuroepithelioma	semapv:ManualMappingCuration
MONDO:0017047	infantile axonal neuropathy	oboInOwl:hasDbXref	Orphanet:2679	OBSOLETE: Infantile axonal neuropathy	semapv:ManualMappingCuration
MONDO:0017048	pseudomyxoma peritonei	oboInOwl:hasDbXref	Orphanet:26790	Pseudomyxoma peritonei	semapv:ManualMappingCuration
MONDO:0017049	obsolete hypomyelination neuropathy-arthrogryposis syndrome	oboInOwl:hasDbXref	Orphanet:2680	Hypomyelination neuropathy-arthrogryposis syndrome	semapv:ManualMappingCuration
MONDO:0017050	intraocular medulloepithelioma	oboInOwl:hasDbXref	Orphanet:268139	Intraocular medulloepithelioma	semapv:ManualMappingCuration
MONDO:0017051	classic maple syrup urine disease	oboInOwl:hasDbXref	Orphanet:268145	Classic maple syrup urine disease	semapv:ManualMappingCuration
MONDO:0017052	intermediate maple syrup urine disease	oboInOwl:hasDbXref	Orphanet:268162	Intermediate maple syrup urine disease	semapv:ManualMappingCuration
MONDO:0017053	intermittent maple syrup urine disease	oboInOwl:hasDbXref	Orphanet:268173	Intermittent maple syrup urine disease	semapv:ManualMappingCuration
MONDO:0017054	thiamine-responsive maple syrup urine disease	oboInOwl:hasDbXref	Orphanet:268184	Thiamine-responsive maple syrup urine disease	semapv:ManualMappingCuration
MONDO:0017055	mycophenolate mofetil embryopathy	oboInOwl:hasDbXref	Orphanet:268249	Mycophenolate mofetil embryopathy	semapv:ManualMappingCuration
MONDO:0017056	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	oboInOwl:hasDbXref	Orphanet:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	semapv:ManualMappingCuration
MONDO:0017057	obsolete hereditary thrombocytopenia with normal platelets	oboInOwl:hasDbXref	Orphanet:268322	Hereditary thrombocytopenia with normal platelets	semapv:ManualMappingCuration
MONDO:0017058	autosomal recessive intermediate Charcot-Marie-Tooth disease	oboInOwl:hasDbXref	Orphanet:268337	Autosomal recessive intermediate Charcot-Marie-Tooth disease	semapv:ManualMappingCuration
MONDO:0017059	obsolete neural tube closure defect	oboInOwl:hasDbXref	Orphanet:268357	Neural tube closure defect	semapv:ManualMappingCuration
MONDO:0017060	open iniencephaly	oboInOwl:hasDbXref	Orphanet:268363	Open iniencephaly	semapv:ManualMappingCuration
MONDO:0017061	closed iniencephaly	oboInOwl:hasDbXref	Orphanet:268366	Closed iniencephaly	semapv:ManualMappingCuration
MONDO:0017062	spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268369	Open spinal dysraphism	semapv:ManualMappingCuration
MONDO:0017063	total spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268377	OBSOLETE: Total spina bifida aperta	semapv:ManualMappingCuration
MONDO:0017064	thoracolumbosacral spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268384	OBSOLETE: Thoracolumbosacral spina bifida aperta	semapv:ManualMappingCuration
MONDO:0017065	lumbosacral spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268388	OBSOLETE: Lumbosacral spina bifida aperta	semapv:ManualMappingCuration
MONDO:0017066	cervical spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268392	OBSOLETE: Cervical spina bifida aperta	semapv:ManualMappingCuration
MONDO:0017067	cervicothoracic spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268397	OBSOLETE: Cervicothoracic spina bifida aperta	semapv:ManualMappingCuration
MONDO:0017068	upper thoracic spina bifida aperta	oboInOwl:hasDbXref	Orphanet:268740	OBSOLETE: Upper thoracic spina bifida aperta	semapv:ManualMappingCuration
MONDO:0017069	spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268744	Spinal dysraphism with a posterior meningocele	semapv:ManualMappingCuration
MONDO:0017070	total spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268748	OBSOLETE: Total spina bifida cystica	semapv:ManualMappingCuration
MONDO:0017071	thoracolumbosacral spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268752	OBSOLETE: Thoracolumbosacral spina bifida cystica	semapv:ManualMappingCuration
MONDO:0017072	lumbosacral spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268758	OBSOLETE: Lumbosacral spina bifida cystica	semapv:ManualMappingCuration
MONDO:0017073	cervical spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268762	OBSOLETE: Cervical spina bifida cystica	semapv:ManualMappingCuration
MONDO:0017074	cervicothoracic spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268766	OBSOLETE: Cervicothoracic spina bifida cystica	semapv:ManualMappingCuration
MONDO:0017075	upper thoracic spina bifida cystica	oboInOwl:hasDbXref	Orphanet:268770	OBSOLETE: Upper thoracic spina bifida cystica	semapv:ManualMappingCuration
MONDO:0017076	posterior meningocele	oboInOwl:hasDbXref	Orphanet:268810	Isolated posterior meningocele	semapv:ManualMappingCuration
MONDO:0017077	myelocystocele	oboInOwl:hasDbXref	Orphanet:268813	Myelocystocele	semapv:ManualMappingCuration
MONDO:0017078	cephalocele	oboInOwl:hasDbXref	Orphanet:268817	Cephalocele	semapv:ManualMappingCuration
MONDO:0017079	meningoencephalocele	oboInOwl:hasDbXref	Orphanet:268820	Cranial meningocele	semapv:ManualMappingCuration
MONDO:0017080	occipital encephalocele	oboInOwl:hasDbXref	Orphanet:268823	Occipital encephalocele	semapv:ManualMappingCuration
MONDO:0017081	parietal encephalocele	oboInOwl:hasDbXref	Orphanet:268826	Parietal encephalocele	semapv:ManualMappingCuration
MONDO:0017082	basal encephalocele	oboInOwl:hasDbXref	Orphanet:268829	Basal encephalocele	semapv:ManualMappingCuration
MONDO:0017083	obsolete lipoma associated with neurospinal dysraphism	oboInOwl:hasDbXref	Orphanet:268832	OBSOLETE: Lipoma associated with neurospinal dysraphism	semapv:ManualMappingCuration
MONDO:0017084	leptomyelolipoma	oboInOwl:hasDbXref	Orphanet:268838	OBSOLETE: Leptomyelolipoma	semapv:ManualMappingCuration
MONDO:0017085	obsolete malformation of the neurenteric canal, spinal cord and column	oboInOwl:hasDbXref	Orphanet:268843	Malformation of the neurenteric canal, spinal cord and column	semapv:ManualMappingCuration
MONDO:0017086	primary tethered cord syndrome	oboInOwl:hasDbXref	Orphanet:268861	Primary tethered cord syndrome	semapv:ManualMappingCuration
MONDO:0017087	neurenteric cyst	oboInOwl:hasDbXref	Orphanet:268865	Neurenteric cyst	semapv:ManualMappingCuration
MONDO:0017088	isolated amyelia	oboInOwl:hasDbXref	Orphanet:268868	Isolated amyelia	semapv:ManualMappingCuration
MONDO:0017089	isolated megalencephaly	oboInOwl:hasDbXref	Orphanet:268920	Isolated megalencephaly	semapv:ManualMappingCuration
MONDO:0017090	obsolete midline cerebral malformation	oboInOwl:hasDbXref	Orphanet:268926	Midline cerebral malformation	semapv:ManualMappingCuration
MONDO:0017091	bilateral polymicrogyria	oboInOwl:hasDbXref	Orphanet:268940	Bilateral polymicrogyria	semapv:ManualMappingCuration
MONDO:0017092	unilateral polymicrogyria	oboInOwl:hasDbXref	Orphanet:268943	Unilateral polymicrogyria	semapv:ManualMappingCuration
MONDO:0017093	unilateral focal polymicrogyria	oboInOwl:hasDbXref	Orphanet:268947	Unilateral focal polymicrogyria	semapv:ManualMappingCuration
MONDO:0017094	cerebral cortical dysplasia	oboInOwl:hasDbXref	Orphanet:268950	Cerebral cortical dysplasia	semapv:ManualMappingCuration
MONDO:0017095	isolated focal cortical dysplasia type I	oboInOwl:hasDbXref	Orphanet:268961	Isolated focal cortical dysplasia type I	semapv:ManualMappingCuration
MONDO:0017096	isolated focal cortical dysplasia type Ia	oboInOwl:hasDbXref	Orphanet:268973	Isolated focal cortical dysplasia type Ia	semapv:ManualMappingCuration
MONDO:0017097	isolated focal cortical dysplasia type Ib	oboInOwl:hasDbXref	Orphanet:268980	Isolated focal cortical dysplasia type Ib	semapv:ManualMappingCuration
MONDO:0017098	isolated focal cortical dysplasia type Ic	oboInOwl:hasDbXref	Orphanet:268987	Isolated focal cortical dysplasia type Ic	semapv:ManualMappingCuration
MONDO:0017100	neutropenia-monocytopenia-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2690	Neutropenia-monocytopenia-deafness syndrome	semapv:ManualMappingCuration
MONDO:0017101	isolated focal cortical dysplasia type IIa	oboInOwl:hasDbXref	Orphanet:269001	Isolated focal cortical dysplasia type IIa	semapv:ManualMappingCuration
MONDO:0017102	isolated focal cortical dysplasia type IIb	oboInOwl:hasDbXref	Orphanet:269008	Isolated focal cortical dysplasia type IIb	semapv:ManualMappingCuration
MONDO:0017103	encephaloclastic disorder	oboInOwl:hasDbXref	Orphanet:269190	Encephaloclastic disorder	semapv:ManualMappingCuration
MONDO:0017104	obsolete central nervous system cystic malformation	oboInOwl:hasDbXref	Orphanet:269194	Central nervous system cystic malformation	semapv:ManualMappingCuration
MONDO:0017105	glioependymal/ependymal cyst	oboInOwl:hasDbXref	Orphanet:269197	Glioependymal/ependymal cyst	semapv:ManualMappingCuration
MONDO:0017106	retrocerebellar cyst	oboInOwl:hasDbXref	Orphanet:269200	OBSOLETE: Retrocerebellar cyst	semapv:ManualMappingCuration
MONDO:0017107	isolated cerebellar vermis agenesis	oboInOwl:hasDbXref	Orphanet:269203	Isolated cerebellar vermis agenesis	semapv:ManualMappingCuration
MONDO:0017108	isolated total cerebellar vermis agenesis	oboInOwl:hasDbXref	Orphanet:269206	Isolated total cerebellar vermis agenesis	semapv:ManualMappingCuration
MONDO:0017109	isolated partial cerebellar vermis agenesis	oboInOwl:hasDbXref	Orphanet:269209	Isolated partial cerebellar vermis agenesis	semapv:ManualMappingCuration
MONDO:0017110	isolated Dandy-Walker malformation with hydrocephalus	oboInOwl:hasDbXref	Orphanet:269212	Isolated Dandy-Walker malformation with hydrocephalus	semapv:ManualMappingCuration
MONDO:0017111	isolated Dandy-Walker malformation without hydrocephalus	oboInOwl:hasDbXref	Orphanet:269215	Isolated Dandy-Walker malformation without hydrocephalus	semapv:ManualMappingCuration
MONDO:0017112	isolated unilateral hemispheric cerebellar hypoplasia	oboInOwl:hasDbXref	Orphanet:269218	Isolated unilateral hemispheric cerebellar hypoplasia	semapv:ManualMappingCuration
MONDO:0017113	isolated bilateral hemispheric cerebellar hypoplasia	oboInOwl:hasDbXref	Orphanet:269221	Isolated bilateral hemispheric cerebellar hypoplasia	semapv:ManualMappingCuration
MONDO:0017114	obsolete global cerebellar malformation	oboInOwl:hasDbXref	Orphanet:269224	Global cerebellar malformation	semapv:ManualMappingCuration
MONDO:0017116	congenital communicating hydrocephalus	oboInOwl:hasDbXref	Orphanet:269505	Congenital communicating hydrocephalus	semapv:ManualMappingCuration
MONDO:0017117	congenital non-communicating hydrocephalus	oboInOwl:hasDbXref	Orphanet:269510	Congenital non-communicating hydrocephalus	semapv:ManualMappingCuration
MONDO:0017118	obsolete syndrome with a cerebellar malformation as major feature	oboInOwl:hasDbXref	Orphanet:269523	Syndrome with a cerebellar malformation as a major feature	semapv:ManualMappingCuration
MONDO:0017119	obsolete syndrome with microcephaly as major feature	oboInOwl:hasDbXref	Orphanet:269528	Syndrome with microcephaly as a major feature	semapv:ManualMappingCuration
MONDO:0017120	obsolete other syndrome with a central nervous system malformation as major feature	oboInOwl:hasDbXref	Orphanet:269531	Other syndrome with a central nervous system malformation as a major feature	semapv:ManualMappingCuration
MONDO:0017121	obsolete syndrome with a Dandy-Walker malformation as major feature	oboInOwl:hasDbXref	Orphanet:269546	Syndrome with a Dandy-Walker malformation as a major feature	semapv:ManualMappingCuration
MONDO:0017122	obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	oboInOwl:hasDbXref	Orphanet:269573	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	semapv:ManualMappingCuration
MONDO:0017123	arthrogryposis-renal dysfunction-cholestasis syndrome	oboInOwl:hasDbXref	Orphanet:2697	Arthrogryposis-renal dysfunction-cholestasis syndrome	semapv:ManualMappingCuration
MONDO:0017124	noma	oboInOwl:hasDbXref	Orphanet:2700	Noma	semapv:ManualMappingCuration
MONDO:0017126	oculo-skeletal-renal syndrome	oboInOwl:hasDbXref	Orphanet:2716	OBSOLETE: Oculo-skeletal-renal syndrome	semapv:ManualMappingCuration
MONDO:0017127	obsolete inherited soft tissue tumor	oboInOwl:hasDbXref	Orphanet:271832	Genetic soft tissue tumor	semapv:ManualMappingCuration
MONDO:0017128	obsolete inherited digestive tract tumor	oboInOwl:hasDbXref	Orphanet:271835	Genetic digestive tract tumor	semapv:ManualMappingCuration
MONDO:0017129	obsolete inherited cardiac tumor	oboInOwl:hasDbXref	Orphanet:271841	Genetic cardiac tumor	semapv:ManualMappingCuration
MONDO:0017130	obsolete genetic urogenital tumor	oboInOwl:hasDbXref	Orphanet:271844	Genetic urogenital tumor	semapv:ManualMappingCuration
MONDO:0017131	obsolete hereditary cardiac anomaly	oboInOwl:hasDbXref	Orphanet:271853	Genetic cardiac anomaly	semapv:ManualMappingCuration
MONDO:0017134	odonto-onycho dysplasia-alopecia syndrome	oboInOwl:hasDbXref	Orphanet:2722	Odonto-onycho dysplasia-alopecia syndrome	semapv:ManualMappingCuration
MONDO:0017135	olivopontocerebellar atrophy-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2732	Olivopontocerebellar atrophy-deafness syndrome	semapv:ManualMappingCuration
MONDO:0017136	omodysplasia	oboInOwl:hasDbXref	Orphanet:2733	Omodysplasia	semapv:ManualMappingCuration
MONDO:0017137	onchocerciasis	oboInOwl:hasDbXref	Orphanet:2737	Onchocerciasis	semapv:ManualMappingCuration
MONDO:0017138	Opitz G/BBB syndrome	oboInOwl:hasDbXref	Orphanet:2745	Opitz GBBB syndrome	semapv:ManualMappingCuration
MONDO:0017139	oromandibular-limb hypogenesis syndrome	oboInOwl:hasDbXref	Orphanet:2749	Oromandibular-limb hypogenesis syndrome	semapv:ManualMappingCuration
MONDO:0017140	L1 syndrome	oboInOwl:hasDbXref	Orphanet:275543	L1 syndrome	semapv:ManualMappingCuration
MONDO:0017141	obsolete hemorrhagic disorder due to a constitutional thrombocytopenia	oboInOwl:hasDbXref	Orphanet:275729	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	semapv:ManualMappingCuration
MONDO:0017142	obsolete hemorrhagic disorder due to a qualitative platelet defect	oboInOwl:hasDbXref	Orphanet:275736	Rare hemorrhagic disorder due to a qualitative platelet defect	semapv:ManualMappingCuration
MONDO:0017143	obsolete genetic infertility	oboInOwl:hasDbXref	Orphanet:275742	Genetic infertility	semapv:ManualMappingCuration
MONDO:0017144	obsolete alpha-thalassemia and related diseases	oboInOwl:hasDbXref	Orphanet:275745	Alpha-thalassemia and related disorders	semapv:ManualMappingCuration
MONDO:0017145	beta-thalassemia and related diseases	oboInOwl:hasDbXref	Orphanet:275749	Beta-thalassemia and related diseases	semapv:ManualMappingCuration
MONDO:0017146	obsolete sickle cell disease and related diseases	oboInOwl:hasDbXref	Orphanet:275752	Sickle cell disease and related diseases	semapv:ManualMappingCuration
MONDO:0017147	idiopathic pulmonary arterial hypertension	oboInOwl:hasDbXref	Orphanet:275766	Idiopathic pulmonary arterial hypertension	semapv:ManualMappingCuration
MONDO:0017148	heritable pulmonary arterial hypertension	oboInOwl:hasDbXref	Orphanet:275777	Heritable pulmonary arterial hypertension	semapv:ManualMappingCuration
MONDO:0017149	drug- or toxin-induced pulmonary arterial hypertension	oboInOwl:hasDbXref	Orphanet:275786	Drug- or toxin-induced pulmonary arterial hypertension	semapv:ManualMappingCuration
MONDO:0017150	obsolete pulmonary arterial hypertension associated with another disease	oboInOwl:hasDbXref	Orphanet:275791	Pulmonary arterial hypertension associated with another disease	semapv:ManualMappingCuration
MONDO:0017151	obsolete pulmonary arterial hypertension associated with connective tissue disease	oboInOwl:hasDbXref	Orphanet:275798	Pulmonary arterial hypertension associated with connective tissue disease	semapv:ManualMappingCuration
MONDO:0017152	obsolete pulmonary arterial hypertension associated with congenital heart disease	oboInOwl:hasDbXref	Orphanet:275803	Pulmonary arterial hypertension associated with congenital heart disease	semapv:ManualMappingCuration
MONDO:0017153	obsolete pulmonary arterial hypertension associated with HIV infection	oboInOwl:hasDbXref	Orphanet:275808	Pulmonary arterial hypertension associated with HIV infection	semapv:ManualMappingCuration
MONDO:0017154	obsolete pulmonary arterial hypertension associated with portal hypertension	oboInOwl:hasDbXref	Orphanet:275813	Pulmonary arterial hypertension associated with portal hypertension	semapv:ManualMappingCuration
MONDO:0017155	obsolete pulmonary arterial hypertension associated with schistosomiasis	oboInOwl:hasDbXref	Orphanet:275823	Pulmonary arterial hypertension associated with schistosomiasis	semapv:ManualMappingCuration
MONDO:0017156	obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia	oboInOwl:hasDbXref	Orphanet:275828	Pulmonary arterial hypertension associated with chronic hemolytic anemia	semapv:ManualMappingCuration
MONDO:0017157	pulmonary hypertension owing to lung disease and/or hypoxia	oboInOwl:hasDbXref	Orphanet:275837	Pulmonary hypertension owing to lung disease and/or hypoxia	semapv:ManualMappingCuration
MONDO:0017158	obsolete pulmonary hypertension with unclear multifactorial mechanism	oboInOwl:hasDbXref	Orphanet:275844	Pulmonary hypertension with unclear multifactorial mechanism	semapv:ManualMappingCuration
MONDO:0017159	obsolete syndrome with pulmonary hypertension as a major feature	oboInOwl:hasDbXref	Orphanet:275853	Syndrome with pulmonary hypertension as a major feature	semapv:ManualMappingCuration
MONDO:0017160	behavioral variant of frontotemporal dementia	oboInOwl:hasDbXref	Orphanet:275864	Behavioral variant of frontotemporal dementia	semapv:ManualMappingCuration
MONDO:0017161	frontotemporal dementia with motor neuron disease	oboInOwl:hasDbXref	Orphanet:275872	Frontotemporal dementia with motor neuron disease	semapv:ManualMappingCuration
MONDO:0017162	imperforate oropharynx-costo vetebral anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2759	Imperforate oropharynx-costovertebral anomalies syndrome	semapv:ManualMappingCuration
MONDO:0017163	obsolete hemolytic disease due to fetomaternal alloimmunization	oboInOwl:hasDbXref	Orphanet:275938	Hemolytic disease due to fetomaternal alloimmunization	semapv:ManualMappingCuration
MONDO:0017164	hemolytic disease of the newborn with Kell alloimmunization	oboInOwl:hasDbXref	Orphanet:275944	Hemolytic disease of the newborn with Kell alloimmunization	semapv:ManualMappingCuration
MONDO:0017165	bile acid CoA ligase deficiency and defective amidation	oboInOwl:hasDbXref	Orphanet:276066	Bile acid CoA ligase deficiency and defective amidation	semapv:ManualMappingCuration
MONDO:0017166	obsolete rare tumor of salivary glands	oboInOwl:hasDbXref	Orphanet:276142	Rare tumor of salivary glands	semapv:ManualMappingCuration
MONDO:0017167	malignant epithelial tumor of salivary glands	oboInOwl:hasDbXref	Orphanet:276145	Malignant epithelial tumor of salivary glands	semapv:ManualMappingCuration
MONDO:0017168	benign epithelial tumor of salivary glands	oboInOwl:hasDbXref	Orphanet:276148	Benign epithelial tumor of salivary glands	semapv:ManualMappingCuration
MONDO:0017169	multiple endocrine neoplasia	oboInOwl:hasDbXref	Orphanet:276161	Multiple endocrine neoplasia	semapv:ManualMappingCuration
MONDO:0017170	idiopathic recurrent stupor	oboInOwl:hasDbXref	Orphanet:276174	Idiopathic recurrent stupor	semapv:ManualMappingCuration
MONDO:0017171	mucopolysaccharidosis type 6, rapidly progressing	oboInOwl:hasDbXref	Orphanet:276212	Mucopolysaccharidosis type 6, rapidly progressing	semapv:ManualMappingCuration
MONDO:0017172	mucopolysaccharidosis type 6, slowly progressing	oboInOwl:hasDbXref	Orphanet:276223	Mucopolysaccharidosis type 6, slowly progressing	semapv:ManualMappingCuration
MONDO:0017173	obsolete non-syndromic male infertility due to sperm motility disorder	oboInOwl:hasDbXref	Orphanet:276234	Non-syndromic male infertility due to sperm motility disorder	semapv:ManualMappingCuration
MONDO:0017174	Machado-Joseph disease type 1	oboInOwl:hasDbXref	Orphanet:276238	Machado-Joseph disease type 1	semapv:ManualMappingCuration
MONDO:0017175	Machado-Joseph disease type 2	oboInOwl:hasDbXref	Orphanet:276241	Machado-Joseph disease type 2	semapv:ManualMappingCuration
MONDO:0017176	Machado-Joseph disease type 3	oboInOwl:hasDbXref	Orphanet:276244	Machado-Joseph disease type 3	semapv:ManualMappingCuration
MONDO:0017177	hemihyperplasia-multiple lipomatosis syndrome	oboInOwl:hasDbXref	Orphanet:276280	Hemihyperplasia-multiple lipomatosis syndrome	semapv:ManualMappingCuration
MONDO:0017178	osteochondritis dissecans	oboInOwl:hasDbXref	Orphanet:2764	Osteochondritis dissecans	semapv:ManualMappingCuration
MONDO:0017179	limbic encephalitis with caspr2 antibodies	oboInOwl:hasDbXref	Orphanet:276402	OBSOLETE: Limbic encephalitis with caspr2 antibodies	semapv:ManualMappingCuration
MONDO:0017180	10q22.3q23.3 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:276422	10q22.3q23.3 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0017181	hypnic headache	oboInOwl:hasDbXref	Orphanet:276429	Hypnic headache	semapv:ManualMappingCuration
MONDO:0017182	familial hyperinsulinism	oboInOwl:hasDbXref	Orphanet:276525	Familial hyperinsulinism	semapv:ManualMappingCuration
MONDO:0017183	hyperinsulinism due to UCP2 deficiency	oboInOwl:hasDbXref	Orphanet:276556	Hyperinsulinism due to UCP2 deficiency	semapv:ManualMappingCuration
MONDO:0017184	autosomal dominant hyperinsulinism due to SUR1 deficiency	oboInOwl:hasDbXref	Orphanet:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	semapv:ManualMappingCuration
MONDO:0017185	autosomal dominant hyperinsulinism due to Kir6.2 deficiency	oboInOwl:hasDbXref	Orphanet:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	semapv:ManualMappingCuration
MONDO:0017186	diazoxide-resistant hyperinsulinism	oboInOwl:hasDbXref	Orphanet:276585	Diazoxide-resistant hyperinsulinism	semapv:ManualMappingCuration
MONDO:0017187	diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	oboInOwl:hasDbXref	Orphanet:276598	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	semapv:ManualMappingCuration
MONDO:0017188	diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	oboInOwl:hasDbXref	Orphanet:276603	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	semapv:ManualMappingCuration
MONDO:0017189	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	oboInOwl:hasDbXref	Orphanet:276608	Non-insulinoma pancreatogenous hypoglycemia syndrome	semapv:ManualMappingCuration
MONDO:0017190	sporadic pheochromocytoma/secreting paraganglioma	oboInOwl:hasDbXref	Orphanet:276621	Sporadic pheochromocytoma/secreting paraganglioma	semapv:ManualMappingCuration
MONDO:0017191	sporadic pheochromocytoma	oboInOwl:hasDbXref	Orphanet:276624	OBSOLETE: Sporadic pheochromocytoma	semapv:ManualMappingCuration
MONDO:0017192	sporadic secreting paraganglioma	oboInOwl:hasDbXref	Orphanet:276627	OBSOLETE: Sporadic secreting paraganglioma	semapv:ManualMappingCuration
MONDO:0017193	symptomatic form of Coffin-Lowry syndrome in female carriers	oboInOwl:hasDbXref	Orphanet:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	semapv:ManualMappingCuration
MONDO:0017194	Blount disease	oboInOwl:hasDbXref	Orphanet:2768	Blount disease	semapv:ManualMappingCuration
MONDO:0017195	Bruck syndrome	oboInOwl:hasDbXref	Orphanet:2771	Bruck syndrome	semapv:ManualMappingCuration
MONDO:0017196	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2773	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0017197	osteopathia striata-pigmentary dermopathy-white forelock syndrome	oboInOwl:hasDbXref	Orphanet:2779	Osteopathia striata-pigmentary dermopathy-white forelock syndrome	semapv:ManualMappingCuration
MONDO:0017198	osteopetrosis	oboInOwl:hasDbXref	Orphanet:2781	Osteopetrosis and related disorders	semapv:ManualMappingCuration
MONDO:0017199	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	oboInOwl:hasDbXref	Orphanet:2787	OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	semapv:ManualMappingCuration
MONDO:0017200	polycystic ovaries-urethral sphincter dysfunction syndrome	oboInOwl:hasDbXref	Orphanet:2795	Fowler urethral sphincter dysfunction syndrome	semapv:ManualMappingCuration
MONDO:0017201	Spasmus nutans	oboInOwl:hasDbXref	Orphanet:279882	Spasmus nutans	semapv:ManualMappingCuration
MONDO:0017202	acute endophthalmitis	oboInOwl:hasDbXref	Orphanet:279888	Acute endophthalmitis	semapv:ManualMappingCuration
MONDO:0017203	chronic endophthalmitis	oboInOwl:hasDbXref	Orphanet:279891	Chronic endophthalmitis	semapv:ManualMappingCuration
MONDO:0017204	toxic maculopathy due to antimalarial drugs	oboInOwl:hasDbXref	Orphanet:279894	Toxic maculopathy due to antimalarial drugs	semapv:ManualMappingCuration
MONDO:0017205	primary oculocerebral lymphoma	oboInOwl:hasDbXref	Orphanet:279897	Primary oculocerebral lymphoma	semapv:ManualMappingCuration
MONDO:0017207	primary organ-specific lymphoma	oboInOwl:hasDbXref	Orphanet:279911	Primary organ-specific lymphoma	semapv:ManualMappingCuration
MONDO:0017209	infectious posterior uveitis	oboInOwl:hasDbXref	Orphanet:279919	Infectious posterior uveitis	semapv:ManualMappingCuration
MONDO:0017210	infectious anterior uveitis	oboInOwl:hasDbXref	Orphanet:279922	Infectious anterior uveitis	semapv:ManualMappingCuration
MONDO:0017211	infectious panuveitis	oboInOwl:hasDbXref	Orphanet:279925	Infectious panuveitis	semapv:ManualMappingCuration
MONDO:0017212	paraneoplastic uveitis	oboInOwl:hasDbXref	Orphanet:279928	Paraneoplastic uveitis	semapv:ManualMappingCuration
MONDO:0017213	postorgasmic illness syndrome	oboInOwl:hasDbXref	Orphanet:279947	Postorgasmic illness syndrome	semapv:ManualMappingCuration
MONDO:0017214	vitamin B12-responsive methylmalonic acidemia	oboInOwl:hasDbXref	Orphanet:28	Vitamin B12-responsive methylmalonic acidemia	semapv:ManualMappingCuration
MONDO:0017215	calciphylaxis	oboInOwl:hasDbXref	Orphanet:280062	Calciphylaxis	semapv:ManualMappingCuration
MONDO:0017216	calciphylaxis cutis	oboInOwl:hasDbXref	Orphanet:280065	Calciphylaxis cutis	semapv:ManualMappingCuration
MONDO:0017217	visceral calciphylaxis	oboInOwl:hasDbXref	Orphanet:280068	Visceral calciphylaxis	semapv:ManualMappingCuration
MONDO:0017218	obsolete septopreoptic holoprosencephaly	oboInOwl:hasDbXref	Orphanet:280195	Septopreoptic holoprosencephaly	semapv:ManualMappingCuration
MONDO:0017219	microform holoprosencephaly	oboInOwl:hasDbXref	Orphanet:280200	Microform holoprosencephaly	semapv:ManualMappingCuration
MONDO:0017220	laryngotracheoesophageal cleft type 0	oboInOwl:hasDbXref	Orphanet:280205	Laryngotracheoesophageal cleft type 0	semapv:ManualMappingCuration
MONDO:0017221	Pelizaeus-Merzbacher disease, connatal form	oboInOwl:hasDbXref	Orphanet:280210	Pelizaeus-Merzbacher disease, connatal form	semapv:ManualMappingCuration
MONDO:0017222	Pelizaeus-Merzbacher disease, classic form	oboInOwl:hasDbXref	Orphanet:280219	Pelizaeus-Merzbacher disease, classic form	semapv:ManualMappingCuration
MONDO:0017223	Pelizaeus-Merzbacher disease, transitional form	oboInOwl:hasDbXref	Orphanet:280224	Pelizaeus-Merzbacher disease, transitional form	semapv:ManualMappingCuration
MONDO:0017224	Pelizaeus-Merzbacher disease in female carriers	oboInOwl:hasDbXref	Orphanet:280229	Pelizaeus-Merzbacher disease in female carriers	semapv:ManualMappingCuration
MONDO:0017225	null syndrome	oboInOwl:hasDbXref	Orphanet:280234	Null syndrome	semapv:ManualMappingCuration
MONDO:0017226	Pelizaeus-Merzbacher-like disease	oboInOwl:hasDbXref	Orphanet:280270	Pelizaeus-Merzbacher-like disease	semapv:ManualMappingCuration
MONDO:0017227	autoimmune pancreatitis type 1	oboInOwl:hasDbXref	Orphanet:280302	Autoimmune pancreatitis type 1	semapv:ManualMappingCuration
MONDO:0017228	autoimmune pancreatitis type 2	oboInOwl:hasDbXref	Orphanet:280315	Autoimmune pancreatitis type 2	semapv:ManualMappingCuration
MONDO:0017229	distal monosomy 12p	oboInOwl:hasDbXref	Orphanet:280325	Distal deletion 12p syndrome	semapv:ManualMappingCuration
MONDO:0017230	autosomal semi-dominant severe lipodystrophic laminopathy	oboInOwl:hasDbXref	Orphanet:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	semapv:ManualMappingCuration
MONDO:0017231	erythropoietic uroporphyria associated with myeloid malignancy	oboInOwl:hasDbXref	Orphanet:280379	Erythropoietic uroporphyria associated with myeloid malignancy	semapv:ManualMappingCuration
MONDO:0017232	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	oboInOwl:hasDbXref	Orphanet:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	semapv:ManualMappingCuration
MONDO:0017233	familial Alzheimer-like prion disease	oboInOwl:hasDbXref	Orphanet:280397	Familial Alzheimer-like prion disease	semapv:ManualMappingCuration
MONDO:0017234	obsolete inherited prion disease	oboInOwl:hasDbXref	Orphanet:280400	Inherited human prion disease	semapv:ManualMappingCuration
MONDO:0017235	familial omphalocele syndrome with facial dysmorphism	oboInOwl:hasDbXref	Orphanet:280403	Familial omphalocele syndrome with facial dysmorphism	semapv:ManualMappingCuration
MONDO:0017236	rapidly progressive glomerulonephritis	oboInOwl:hasDbXref	Orphanet:280569	OBSOLETE: Rapidly progressive glomerulonephritis	semapv:ManualMappingCuration
MONDO:0017237	hereditary sensorimotor neuropathy with hyperelastic skin	oboInOwl:hasDbXref	Orphanet:280598	Hereditary sensorimotor neuropathy with hyperelastic skin	semapv:ManualMappingCuration
MONDO:0017238	hemoglobinopathy Toms River	oboInOwl:hasDbXref	Orphanet:280615	Hemoglobinopathy Toms River	semapv:ManualMappingCuration
MONDO:0017239	familial progressive hyper- and hypopigmentation	oboInOwl:hasDbXref	Orphanet:280628	Familial progressive hyper- and hypopigmentation	semapv:ManualMappingCuration
MONDO:0017240	obsolete acrodysostosis with multiple hormone resistance	oboInOwl:hasDbXref	Orphanet:280651	OBSOLETE: Acrodysostosis with multiple hormone resistance	semapv:ManualMappingCuration
MONDO:0017241	obsolete AP4-related intellectual disability and spastic paraplegia	oboInOwl:hasDbXref	Orphanet:280763	Severe intellectual disability and progressive spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017242	cutaneous collagenous vasculopathy	oboInOwl:hasDbXref	Orphanet:280779	Cutaneous collagenous vasculopathy	semapv:ManualMappingCuration
MONDO:0017243	bullous diffuse cutaneous mastocytosis	oboInOwl:hasDbXref	Orphanet:280785	Bullous diffuse cutaneous mastocytosis	semapv:ManualMappingCuration
MONDO:0017244	pseudoxanthomatous diffuse cutaneous mastocytosis	oboInOwl:hasDbXref	Orphanet:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	semapv:ManualMappingCuration
MONDO:0017245	intralobar congenital pulmonary sequestration	oboInOwl:hasDbXref	Orphanet:280802	Intralobar congenital pulmonary sequestration	semapv:ManualMappingCuration
MONDO:0017246	extralobar congenital pulmonary sequestration	oboInOwl:hasDbXref	Orphanet:280811	Extralobar congenital pulmonary sequestration	semapv:ManualMappingCuration
MONDO:0017247	communicating congenital bronchopulmonary-foregut malformation	oboInOwl:hasDbXref	Orphanet:280821	Communicating congenital bronchopulmonary-foregut malformation	semapv:ManualMappingCuration
MONDO:0017248	congenital pulmonary airway malformation type 0	oboInOwl:hasDbXref	Orphanet:280827	Congenital pulmonary airway malformation type 0	semapv:ManualMappingCuration
MONDO:0017249	congenital pulmonary airway malformation type 1	oboInOwl:hasDbXref	Orphanet:280832	Congenital pulmonary airway malformation type 1	semapv:ManualMappingCuration
MONDO:0017250	congenital pulmonary airway malformation type 2	oboInOwl:hasDbXref	Orphanet:280840	Congenital pulmonary airway malformation type 2	semapv:ManualMappingCuration
MONDO:0017251	congenital pulmonary airway malformation type 3	oboInOwl:hasDbXref	Orphanet:280847	Congenital pulmonary airway malformation type 3	semapv:ManualMappingCuration
MONDO:0017252	congenital pulmonary airway malformation type 4	oboInOwl:hasDbXref	Orphanet:280854	Congenital pulmonary airway malformation type 4	semapv:ManualMappingCuration
MONDO:0017255	panuveitis	oboInOwl:hasDbXref	Orphanet:280898	Panuveitis	semapv:ManualMappingCuration
MONDO:0017256	idiopathic anterior uveitis	oboInOwl:hasDbXref	Orphanet:280914	Isolated idiopathic anterior uveitis	semapv:ManualMappingCuration
MONDO:0017257	idiopathic posterior uveitis	oboInOwl:hasDbXref	Orphanet:280917	Idiopathic posterior uveitis	semapv:ManualMappingCuration
MONDO:0017258	idiopathic panuveitis	oboInOwl:hasDbXref	Orphanet:280921	Idiopathic panuveitis	semapv:ManualMappingCuration
MONDO:0017259	obsolete systemic diseases with anterior uveitis	oboInOwl:hasDbXref	Orphanet:280926	Systemic diseases with anterior uveitis	semapv:ManualMappingCuration
MONDO:0017260	obsolete systemic diseases with posterior uveitis	oboInOwl:hasDbXref	Orphanet:280930	Systemic diseases with posterior uveitis	semapv:ManualMappingCuration
MONDO:0017261	obsolete systemic diseases with panuveitis	oboInOwl:hasDbXref	Orphanet:280933	Systemic diseases with panuveitis	semapv:ManualMappingCuration
MONDO:0017262	obsolete inherited non-syndromic ichthyosis	oboInOwl:hasDbXref	Orphanet:281082	Inherited non-syndromic ichthyosis	semapv:ManualMappingCuration
MONDO:0017263	obsolete inherited ichthyosis syndromic form	oboInOwl:hasDbXref	Orphanet:281085	Inherited ichthyosis syndromic form	semapv:ManualMappingCuration
MONDO:0017264	syndromic recessive X-linked ichthyosis	oboInOwl:hasDbXref	Orphanet:281090	Syndromic recessive X-linked ichthyosis	semapv:ManualMappingCuration
MONDO:0017265	autosomal recessive congenital ichthyosis	oboInOwl:hasDbXref	Orphanet:281097	Autosomal recessive congenital ichthyosis	semapv:ManualMappingCuration
MONDO:0017266	keratinopathic ichthyosis	oboInOwl:hasDbXref	Orphanet:281103	Keratinopathic ichthyosis	semapv:ManualMappingCuration
MONDO:0017267	self-healing collodion baby	oboInOwl:hasDbXref	Orphanet:281122	Self-improving collodion baby	semapv:ManualMappingCuration
MONDO:0017268	acral self-healing collodion baby	oboInOwl:hasDbXref	Orphanet:281127	Acral self-healing collodion baby	semapv:ManualMappingCuration
MONDO:0017269	X-linked ichthyosis syndrome	oboInOwl:hasDbXref	Orphanet:281210	X-linked ichthyosis syndrome	semapv:ManualMappingCuration
MONDO:0017270	obsolete autosomal ichthyosis syndrome	oboInOwl:hasDbXref	Orphanet:281217	Autosomal ichthyosis syndrome	semapv:ManualMappingCuration
MONDO:0017271	obsolete autosomal ichthyosis syndrome with prominent hair abnormalities	oboInOwl:hasDbXref	Orphanet:281222	Autosomal ichthyosis syndrome with prominent hair abnormalities	semapv:ManualMappingCuration
MONDO:0017272	obsolete autosomal ichthyosis syndrome with prominent neurologics signs	oboInOwl:hasDbXref	Orphanet:281238	Autosomal ichthyosis syndrome with prominent neurologic signs	semapv:ManualMappingCuration
MONDO:0017273	obsolete autosomal ichthyosis syndrome with fatal disease course	oboInOwl:hasDbXref	Orphanet:281241	Autosomal ichthyosis syndrome with fatal disease course	semapv:ManualMappingCuration
MONDO:0017275	spastic paraplegia-facial-cutaneous lesions syndrome	oboInOwl:hasDbXref	Orphanet:2819	Spastic paraplegia-facial-cutaneous lesions syndrome	semapv:ManualMappingCuration
MONDO:0017276	frontotemporal dementia	oboInOwl:hasDbXref	Orphanet:282	Frontotemporal dementia	semapv:ManualMappingCuration
MONDO:0017277	partial deletion of chromosome 12	oboInOwl:hasDbXref	Orphanet:282124	Partial deletion of chromosome 12 syndrome	semapv:ManualMappingCuration
MONDO:0017278	autoimmune polyendocrinopathy	oboInOwl:hasDbXref	Orphanet:282196	Autoimmune polyendocrinopathy	semapv:ManualMappingCuration
MONDO:0017279	young-onset Parkinson disease	oboInOwl:hasDbXref	Orphanet:2828	Young-onset Parkinson disease	semapv:ManualMappingCuration
MONDO:0017280	demodicidosis	oboInOwl:hasDbXref	Orphanet:283	Demodicidosis	semapv:ManualMappingCuration
MONDO:0017281	renal caliceal diverticuli-deafness syndrome	oboInOwl:hasDbXref	Orphanet:2838	Renal caliceal diverticuli-deafness syndrome	semapv:ManualMappingCuration
MONDO:0017282	alveolar echinococcosis	oboInOwl:hasDbXref	Orphanet:284	Alveolar echinococcosis	semapv:ManualMappingCuration
MONDO:0017283	DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion	oboInOwl:hasDbXref	Orphanet:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	semapv:ManualMappingCuration
MONDO:0017284	Xp22.13p22.2 duplication syndrome	oboInOwl:hasDbXref	Orphanet:284180	Xp22.13p22.2 duplication syndrome	semapv:ManualMappingCuration
MONDO:0017285	penoscrotal transposition	oboInOwl:hasDbXref	Orphanet:2842	Penoscrotal transposition	semapv:ManualMappingCuration
MONDO:0017286	tempi syndrome	oboInOwl:hasDbXref	Orphanet:284227	TEMPI syndrome	semapv:ManualMappingCuration
MONDO:0017287	immunoglobulin G4-related sclerosing disease	oboInOwl:hasDbXref	Orphanet:284264	IgG4-related disease	semapv:ManualMappingCuration
MONDO:0017287	immunoglobulin G4-related sclerosing disease	oboInOwl:hasDbXref	Orphanet:596448	IgG4-related systemic disease	semapv:ManualMappingCuration
MONDO:0017289	fetal lung interstitial tumor	oboInOwl:hasDbXref	Orphanet:284362	Fetal lung interstitial tumor	semapv:ManualMappingCuration
MONDO:0017290	familial intrahepatic cholestasis	oboInOwl:hasDbXref	Orphanet:284385	Familial intrahepatic cholestasis	semapv:ManualMappingCuration
MONDO:0017291	reversible cerebral vasoconstriction syndrome	oboInOwl:hasDbXref	Orphanet:284388	Reversible cerebral vasoconstriction syndrome	semapv:ManualMappingCuration
MONDO:0017292	well-differentiated fetal adenocarcinoma of the lung	oboInOwl:hasDbXref	Orphanet:284395	Well-differentiated fetal adenocarcinoma of the lung	semapv:ManualMappingCuration
MONDO:0017294	glycerol kinase deficiency, infantile form	oboInOwl:hasDbXref	Orphanet:284408	OBSOLETE: Glycerol kinase deficiency, infantile form	semapv:ManualMappingCuration
MONDO:0017295	glycerol kinase deficiency, juvenile form	oboInOwl:hasDbXref	Orphanet:284411	Glycerol kinase deficiency, juvenile form	semapv:ManualMappingCuration
MONDO:0017296	glycerol kinase deficiency, adult form	oboInOwl:hasDbXref	Orphanet:284414	Glycerol kinase deficiency, adult form	semapv:ManualMappingCuration
MONDO:0017297	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids	oboInOwl:hasDbXref	Orphanet:284448	CLIPPERS	semapv:ManualMappingCuration
MONDO:0017298	acute zonal occult outer retinopathy	oboInOwl:hasDbXref	Orphanet:284454	Acute zonal occult outer retinopathy	semapv:ManualMappingCuration
MONDO:0017299	acute annular outer retinopathy	oboInOwl:hasDbXref	Orphanet:284460	Acute annular outer retinopathy	semapv:ManualMappingCuration
MONDO:0017300	congenital pericardium anomaly	oboInOwl:hasDbXref	Orphanet:2846	Congenital pericardium anomaly	semapv:ManualMappingCuration
MONDO:0017301	pericardial and diaphragmatic defect	oboInOwl:hasDbXref	Orphanet:2847	Pericardial and diaphragmatic defect	semapv:ManualMappingCuration
MONDO:0017302	obsolete qualitative or quantitative defects of troponin	oboInOwl:hasDbXref	Orphanet:284786	Qualitative or quantitative defects of troponin	semapv:ManualMappingCuration
MONDO:0017303	qualitative or quantitative defects of tropomyosin	oboInOwl:hasDbXref	Orphanet:284790	Qualitative or quantitative defects of tropomyosin	semapv:ManualMappingCuration
MONDO:0017304	ocular albinism	oboInOwl:hasDbXref	Orphanet:284804	Ocular albinism	semapv:ManualMappingCuration
MONDO:0017305	syndromic oculocutaneous albinism	oboInOwl:hasDbXref	Orphanet:284811	Syndromic oculocutaneous albinism	semapv:ManualMappingCuration
MONDO:0017306	disorder of phenylalanine metabolism	oboInOwl:hasDbXref	Orphanet:284814	Disorder of phenylalanine metabolism	semapv:ManualMappingCuration
MONDO:0017307	disorder of tyrosine metabolism	oboInOwl:hasDbXref	Orphanet:284818	Disorder of tyrosine metabolism	semapv:ManualMappingCuration
MONDO:0017308	obsolete Marfan syndrome type 2	oboInOwl:hasDbXref	Orphanet:284973	Marfan syndrome type 2	semapv:ManualMappingCuration
MONDO:0017309	neonatal Marfan syndrome	oboInOwl:hasDbXref	Orphanet:284979	Neonatal Marfan syndrome	semapv:ManualMappingCuration
MONDO:0017310	Marfan and Marfan-related disorder	oboInOwl:hasDbXref	Orphanet:284993	Marfan syndrome and Marfan-related disorders	semapv:ManualMappingCuration
MONDO:0017311	obsolete rare disease with thoracic aortic aneurysm and aortic dissection	oboInOwl:hasDbXref	Orphanet:285014	Rare disease with thoracic aortic aneurysm and aortic dissection	semapv:ManualMappingCuration
MONDO:0017312	Perrault syndrome	oboInOwl:hasDbXref	Orphanet:2855	Perrault syndrome	semapv:ManualMappingCuration
MONDO:0017313	disorder of folate metabolism and transport	oboInOwl:hasDbXref	Orphanet:285657	Disorder of folate metabolism and transport	semapv:ManualMappingCuration
MONDO:0017314	Ehlers-Danlos syndrome, vascular type	oboInOwl:hasDbXref	Orphanet:286	Vascular Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0017315	short stature-webbed neck-heart disease syndrome	oboInOwl:hasDbXref	Orphanet:2865	Short stature-webbed neck-heart disease syndrome	semapv:ManualMappingCuration
MONDO:0017316	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:2866	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0017317	phakomatosis pigmentokeratotica	oboInOwl:hasDbXref	Orphanet:2874	Phakomatosis pigmentokeratotica	semapv:ManualMappingCuration
MONDO:0017318	phakomatosis pigmentovascularis	oboInOwl:hasDbXref	Orphanet:2875	Phakomatosis pigmentovascularis	semapv:ManualMappingCuration
MONDO:0017319	hereditary elliptocytosis	oboInOwl:hasDbXref	Orphanet:288	Hereditary elliptocytosis	semapv:ManualMappingCuration
MONDO:0017320	phosphoenolpyruvate carboxykinase deficiency	oboInOwl:hasDbXref	Orphanet:2880	Phosphoenolpyruvate carboxykinase deficiency	semapv:ManualMappingCuration
MONDO:0017321	pili torti-onychodysplasia syndrome	oboInOwl:hasDbXref	Orphanet:2890	Pili torti-onychodysplasia syndrome	semapv:ManualMappingCuration
MONDO:0017322	disorders of vitamin D metabolism	oboInOwl:hasDbXref	Orphanet:289098	Disorders of vitamin D metabolism	semapv:ManualMappingCuration
MONDO:0017323	hypocalcemic rickets	oboInOwl:hasDbXref	Orphanet:289103	Hypocalcemic rickets	semapv:ManualMappingCuration
MONDO:0017324	autosomal recessive hypophosphatemic rickets	oboInOwl:hasDbXref	Orphanet:289176	Autosomal recessive hypophosphatemic rickets	semapv:ManualMappingCuration
MONDO:0017325	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	oboInOwl:hasDbXref	Orphanet:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	semapv:ManualMappingCuration
MONDO:0017326	infective dermatitis associated with HTLV-1	oboInOwl:hasDbXref	Orphanet:289347	Infective dermatitis associated with HTLV-1	semapv:ManualMappingCuration
MONDO:0017327	primary non-gestational choriocarcinoma of ovary	oboInOwl:hasDbXref	Orphanet:289356	Primary non-gestational choriocarcinoma of ovary	semapv:ManualMappingCuration
MONDO:0017328	non-central nervous system-localized embryonal carcinoma	oboInOwl:hasDbXref	Orphanet:289362	Non-central nervous system-localized embryonal carcinoma	semapv:ManualMappingCuration
MONDO:0017329	familial vesicoureteral reflux	oboInOwl:hasDbXref	Orphanet:289365	Familial vesicoureteral reflux	semapv:ManualMappingCuration
MONDO:0017330	malignancy diagnosed during pregnancy	oboInOwl:hasDbXref	Orphanet:289385	Malignancy diagnosed during pregnancy	semapv:ManualMappingCuration
MONDO:0017331	Pilotto syndrome	oboInOwl:hasDbXref	Orphanet:2894	OBSOLETE: Pilotto syndrome	semapv:ManualMappingCuration
MONDO:0017332	pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	oboInOwl:hasDbXref	Orphanet:289478	PASH syndrome	semapv:ManualMappingCuration
MONDO:0017334	12q15q21.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:289513	12q15q21.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0017335	microtriplication 11q24.1	oboInOwl:hasDbXref	Orphanet:289522	Microtriplication 11q24.1 syndrome	semapv:ManualMappingCuration
MONDO:0017336	obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency	oboInOwl:hasDbXref	Orphanet:289527	OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency	semapv:ManualMappingCuration
MONDO:0017337	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	oboInOwl:hasDbXref	Orphanet:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	semapv:ManualMappingCuration
MONDO:0017338	fatal multiple mitochondrial dysfunctions syndrome	oboInOwl:hasDbXref	Orphanet:289573	Multiple mitochondrial dysfunctions syndrome	semapv:ManualMappingCuration
MONDO:0017339	exfoliative ichthyosis	oboInOwl:hasDbXref	Orphanet:289586	Exfoliative ichthyosis	semapv:ManualMappingCuration
MONDO:0017340	juvenile nasopharyngeal angiofibroma	oboInOwl:hasDbXref	Orphanet:289596	Juvenile nasopharyngeal angiofibroma	semapv:ManualMappingCuration
MONDO:0017341	virus associated tumor	oboInOwl:hasDbXref	Orphanet:289635	Rare virus associated tumor	semapv:ManualMappingCuration
MONDO:0017342	Epstein-Barr virus-related tumor	oboInOwl:hasDbXref	Orphanet:289638	Epstein-Barr Virus-related tumor	semapv:ManualMappingCuration
MONDO:0017343	Epstein-Barr virus-associated malignant lymphoproliferative disorder	oboInOwl:hasDbXref	Orphanet:289644	Epstein-Barr virus-associated malignant lymphoproliferative disorder	semapv:ManualMappingCuration
MONDO:0017344	Epstein-Barr virus-associated carcinoma	oboInOwl:hasDbXref	Orphanet:289651	Epstein-Barr Virus-associated carcinoma	semapv:ManualMappingCuration
MONDO:0017345	Epstein-Barr virus-associated mesenchymal tumor	oboInOwl:hasDbXref	Orphanet:289656	Epstein-Barr Virus-associated mesenchymal tumor	semapv:ManualMappingCuration
MONDO:0017346	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	oboInOwl:hasDbXref	Orphanet:289661	Epstein-Barr virus-positive diffuse large B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0017347	plasmablastic lymphoma	oboInOwl:hasDbXref	Orphanet:289666	Plasmablastic lymphoma	semapv:ManualMappingCuration
MONDO:0017348	lymphoepithelial-like carcinoma	oboInOwl:hasDbXref	Orphanet:289682	Lymphoepithelial-like carcinoma	semapv:ManualMappingCuration
MONDO:0017349	myopericytoma	oboInOwl:hasDbXref	Orphanet:289685	Myopericytoma	semapv:ManualMappingCuration
MONDO:0017350	inborn disorder of tryptophan metabolism	oboInOwl:hasDbXref	Orphanet:289829	Disorder of tryptophan metabolism	semapv:ManualMappingCuration
MONDO:0017351	inborn disorder of lysine and hydroxylysine metabolism	oboInOwl:hasDbXref	Orphanet:289832	Disorder of lysine and hydroxylysine metabolism	semapv:ManualMappingCuration
MONDO:0017352	disorder of glutamine metabolism	oboInOwl:hasDbXref	Orphanet:289841	Disorder of glutamine metabolism	semapv:ManualMappingCuration
MONDO:0017353	neonatal glycine encephalopathy	oboInOwl:hasDbXref	Orphanet:289857	Neonatal glycine encephalopathy	semapv:ManualMappingCuration
MONDO:0017354	infantile glycine encephalopathy	oboInOwl:hasDbXref	Orphanet:289860	Infantile glycine encephalopathy	semapv:ManualMappingCuration
MONDO:0017355	inborn disorder of proline metabolism	oboInOwl:hasDbXref	Orphanet:289866	Disorder of proline metabolism	semapv:ManualMappingCuration
MONDO:0017356	inborn disorder of ornithine metabolism	oboInOwl:hasDbXref	Orphanet:289869	Disorder of ornithine metabolism	semapv:ManualMappingCuration
MONDO:0017357	transient hyperammonemia of the newborn	oboInOwl:hasDbXref	Orphanet:289877	Transient hyperammonemia of the newborn	semapv:ManualMappingCuration
MONDO:0017359	3-methylglutaconic aciduria	oboInOwl:hasDbXref	Orphanet:289902	3-methylglutaconic aciduria	semapv:ManualMappingCuration
MONDO:0017360	vitamin B12-unresponsive methylmalonic acidemia type mut0	oboInOwl:hasDbXref	Orphanet:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	semapv:ManualMappingCuration
MONDO:0017361	congenital rubella syndrome	oboInOwl:hasDbXref	Orphanet:290	Congenital rubella syndrome	semapv:ManualMappingCuration
MONDO:0017362	neuralgic amyotrophy	oboInOwl:hasDbXref	Orphanet:2901	Neuralgic amyotrophy	semapv:ManualMappingCuration
MONDO:0017363	idiopathic chronic eosinophilic pneumonia	oboInOwl:hasDbXref	Orphanet:2902	Idiopathic chronic eosinophilic pneumonia	semapv:ManualMappingCuration
MONDO:0017364	POEMS syndrome	oboInOwl:hasDbXref	Orphanet:2905	POEMS syndrome	semapv:ManualMappingCuration
MONDO:0017365	hereditary acrokeratotic poikiloderma, Weary type	oboInOwl:hasDbXref	Orphanet:2907	Hereditary acrokeratotic poikiloderma	semapv:ManualMappingCuration
MONDO:0017366	hereditary pheochromocytoma-paraganglioma	oboInOwl:hasDbXref	Orphanet:29072	Hereditary pheochromocytoma-paraganglioma	semapv:ManualMappingCuration
MONDO:0017368	obsolete systemic disease with skin involvement	oboInOwl:hasDbXref	Orphanet:290836	Systemic disease with skin involvement	semapv:ManualMappingCuration
MONDO:0017369	obsolete autoinflammatory syndrome with immune deficiency	oboInOwl:hasDbXref	Orphanet:290839	Autoinflammatory syndrome with immune deficiency	semapv:ManualMappingCuration
MONDO:0017370	obsolete autoinflammatory syndrome with skin involvement	oboInOwl:hasDbXref	Orphanet:290842	Autoinflammatory syndrome with skin involvement	semapv:ManualMappingCuration
MONDO:0017371	obsolete rare head and neck tumor	oboInOwl:hasDbXref	Orphanet:290849	Rare head and neck tumor	semapv:ManualMappingCuration
MONDO:0017372	congenital varicella syndrome	oboInOwl:hasDbXref	Orphanet:291	Congenital varicella syndrome	semapv:ManualMappingCuration
MONDO:0017373	poliomyelitis	oboInOwl:hasDbXref	Orphanet:2912	Poliomyelitis	semapv:ManualMappingCuration
MONDO:0017375	congenital enterovirus infection	oboInOwl:hasDbXref	Orphanet:292	Congenital enterovirus infection	semapv:ManualMappingCuration
MONDO:0017376	reactive arthritis	oboInOwl:hasDbXref	Orphanet:29207	Reactive arthritis	semapv:ManualMappingCuration
MONDO:0017377	preaxial polydactyly-colobomata-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:2921	Preaxial polydactyly-colobomata-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0017378	obsolete polymicrogyria-turricephaly-hypogenitalism syndrome	oboInOwl:hasDbXref	Orphanet:2925	OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome	semapv:ManualMappingCuration
MONDO:0017379	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	oboInOwl:hasDbXref	Orphanet:2928	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	semapv:ManualMappingCuration
MONDO:0017380	juvenile polyposis syndrome	oboInOwl:hasDbXref	Orphanet:2929	Juvenile polyposis syndrome	semapv:ManualMappingCuration
MONDO:0017381	congenital herpes simplex virus infection	oboInOwl:hasDbXref	Orphanet:293	Congenital herpes simplex virus infection	semapv:ManualMappingCuration
MONDO:0017382	familial clubfoot due to 5q31 microdeletion	oboInOwl:hasDbXref	Orphanet:293144	Familial clubfoot due to 5q31 microdeletion	semapv:ManualMappingCuration
MONDO:0017383	familial clubfoot due to PITX1 point mutation	oboInOwl:hasDbXref	Orphanet:293150	Familial clubfoot due to PITX1 point mutation	semapv:ManualMappingCuration
MONDO:0017384	acute generalized exanthematous pustulosis	oboInOwl:hasDbXref	Orphanet:293173	Acute generalized exanthematous pustulosis	semapv:ManualMappingCuration
MONDO:0017385	malignant migrating partial seizures of infancy	oboInOwl:hasDbXref	Orphanet:293181	Epilepsy of infancy with migrating focal seizures	semapv:ManualMappingCuration
MONDO:0017386	pleomorphic rhabdomyosarcoma	oboInOwl:hasDbXref	Orphanet:293199	Pleomorphic rhabdomyosarcoma	semapv:ManualMappingCuration
MONDO:0017387	epithelioid sarcoma	oboInOwl:hasDbXref	Orphanet:293202	Epithelioid sarcoma	semapv:ManualMappingCuration
MONDO:0017388	celiac trunk compression syndrome	oboInOwl:hasDbXref	Orphanet:293208	Celiac artery compression syndrome	semapv:ManualMappingCuration
MONDO:0017389	tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	oboInOwl:hasDbXref	Orphanet:293284	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	semapv:ManualMappingCuration
MONDO:0017390	obsolete methylmalonic acidemia without homocystinuria	oboInOwl:hasDbXref	Orphanet:293355	Methylmalonic acidemia without homocystinuria	semapv:ManualMappingCuration
MONDO:0017391	Grayson-Wilbrandt corneal dystrophy	oboInOwl:hasDbXref	Orphanet:293375	Grayson-Wilbrandt corneal dystrophy	semapv:ManualMappingCuration
MONDO:0017392	pre-descemet corneal dystrophy	oboInOwl:hasDbXref	Orphanet:293462	Pre-Descemet corneal dystrophy	semapv:ManualMappingCuration
MONDO:0017393	blepharophimosis - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:293642	Blepharophimosis-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0017394	ketamine-induced biliary dilatation	oboInOwl:hasDbXref	Orphanet:293807	Ketamine-induced biliary dilatation	semapv:ManualMappingCuration
MONDO:0017395	fixed pigmented erythema	oboInOwl:hasDbXref	Orphanet:293812	Fixed drug eruption	semapv:ManualMappingCuration
MONDO:0017396	toxic dermatosis	oboInOwl:hasDbXref	Orphanet:293815	Toxic dermatosis	semapv:ManualMappingCuration
MONDO:0017397	obsolete constitutional dyserythropoietic anemia	oboInOwl:hasDbXref	Orphanet:293830	Constitutional dyserythropoietic anemia	semapv:ManualMappingCuration
MONDO:0017398	3MC syndrome	oboInOwl:hasDbXref	Orphanet:293843	3MC syndrome	semapv:ManualMappingCuration
MONDO:0017399	frontotemporal dementia, right temporal atrophy variant	oboInOwl:hasDbXref	Orphanet:293848	Frontotemporal dementia, right temporal atrophy variant	semapv:ManualMappingCuration
MONDO:0017400	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	oboInOwl:hasDbXref	Orphanet:293864	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	semapv:ManualMappingCuration
MONDO:0017401	familial isolated arrhythmogenic ventricular dysplasia, left dominant form	oboInOwl:hasDbXref	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	semapv:ManualMappingCuration
MONDO:0017402	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	oboInOwl:hasDbXref	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	semapv:ManualMappingCuration
MONDO:0017403	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	oboInOwl:hasDbXref	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	semapv:ManualMappingCuration
MONDO:0017404	distal Xq28 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:293939	Distal Xq28 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0017405	1p21.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:293948	1p21.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0017406	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:293967	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0017407	deficiency in anterior pituitary function - variable immunodeficiency syndrome	oboInOwl:hasDbXref	Orphanet:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	semapv:ManualMappingCuration
MONDO:0017408	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	oboInOwl:hasDbXref	Orphanet:293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	semapv:ManualMappingCuration
MONDO:0017409	fetal cytomegalovirus syndrome	oboInOwl:hasDbXref	Orphanet:294	Fetal cytomegalovirus syndrome	semapv:ManualMappingCuration
MONDO:0017410	porencephaly	oboInOwl:hasDbXref	Orphanet:2940	Porencephaly	semapv:ManualMappingCuration
MONDO:0017411	neonatal inflammatory skin and bowel disease	oboInOwl:hasDbXref	Orphanet:294023	Neonatal inflammatory skin and bowel disease	semapv:ManualMappingCuration
MONDO:0017413	Reunion island Larsen syndrome	oboInOwl:hasDbXref	Orphanet:294049	Reunion Island Larsen-like syndrome	semapv:ManualMappingCuration
MONDO:0017414	obsolete rare nevus	oboInOwl:hasDbXref	Orphanet:294057	Rare nevus	semapv:ManualMappingCuration
MONDO:0017415	multiple pterygium syndrome	oboInOwl:hasDbXref	Orphanet:294060	Multiple pterygium syndrome	semapv:ManualMappingCuration
MONDO:0017416	postpoliomyelitis syndrome	oboInOwl:hasDbXref	Orphanet:2942	Postpoliomyelitis syndrome	semapv:ManualMappingCuration
MONDO:0017417	renal-hepatic-pancreatic dysplasia	oboInOwl:hasDbXref	Orphanet:294415	Renal-hepatic-pancreatic dysplasia	semapv:ManualMappingCuration
MONDO:0017418	chronic intestinal failure	oboInOwl:hasDbXref	Orphanet:294422	Chronic intestinal failure	semapv:ManualMappingCuration
MONDO:0017419	non-syndromic amelia	oboInOwl:hasDbXref	Orphanet:294925	Non-syndromic amelia	semapv:ManualMappingCuration
MONDO:0017420	obsolete intercalary limb defects	oboInOwl:hasDbXref	Orphanet:294927	Non-syndromic intercalary limb defects	semapv:ManualMappingCuration
MONDO:0017421	obsolete non-syndromic terminal limb defects	oboInOwl:hasDbXref	Orphanet:294929	OBSOLETE: Terminal limb defects	semapv:ManualMappingCuration
MONDO:0017422	obsolete adactyly of hand	oboInOwl:hasDbXref	Orphanet:294931	OBSOLETE: Adactyly of hand	semapv:ManualMappingCuration
MONDO:0017423	obsolete split hand or/and split foot malformation	oboInOwl:hasDbXref	Orphanet:294935	OBSOLETE: Split hand or/and split foot malformation	semapv:ManualMappingCuration
MONDO:0017424	non-syndromic brachydactyly	oboInOwl:hasDbXref	Orphanet:294937	OBSOLETE: Brachydactyly	semapv:ManualMappingCuration
MONDO:0017425	preaxial polydactyly of fingers	oboInOwl:hasDbXref	Orphanet:294939	OBSOLETE: Preaxial polydactyly of fingers	semapv:ManualMappingCuration
MONDO:0017426	postaxial polydactyly of fingers	oboInOwl:hasDbXref	Orphanet:294942	OBSOLETE: Postaxial polydactyly of fingers	semapv:ManualMappingCuration
MONDO:0017427	congenital deformities of limbs	oboInOwl:hasDbXref	Orphanet:294944	Congenital deformities of limbs	semapv:ManualMappingCuration
MONDO:0017428	obsolete congenital deformities of fingers	oboInOwl:hasDbXref	Orphanet:294947	Congenital deformities of fingers	semapv:ManualMappingCuration
MONDO:0017429	obsolete joint formation defects	oboInOwl:hasDbXref	Orphanet:294949	Non-syndromic joint formation defects	semapv:ManualMappingCuration
MONDO:0017430	obsolete non-syndromic congenital joint dislocations	oboInOwl:hasDbXref	Orphanet:294951	Congenital joint dislocations	semapv:ManualMappingCuration
MONDO:0017431	obsolete non-syndromic limb overgrowth	oboInOwl:hasDbXref	Orphanet:294953	Non-syndromic limb overgrowth	semapv:ManualMappingCuration
MONDO:0017432	obsolete syndrome with limb reduction defects	oboInOwl:hasDbXref	Orphanet:294955	Syndrome with limb reduction defects	semapv:ManualMappingCuration
MONDO:0017433	obsolete dysostosis with combined reduction defects of upper and lower limbs	oboInOwl:hasDbXref	Orphanet:294957	Dysostosis with combined reduction defects of upper and lower limbs	semapv:ManualMappingCuration
MONDO:0017434	obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	oboInOwl:hasDbXref	Orphanet:294959	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	semapv:ManualMappingCuration
MONDO:0017435	popliteal pterygium syndrome	oboInOwl:hasDbXref	Orphanet:294963	Popliteal pterygium syndrome	semapv:ManualMappingCuration
MONDO:0017436	lethal congenital contracture syndrome	oboInOwl:hasDbXref	Orphanet:294965	Lethal congenital contracture syndrome	semapv:ManualMappingCuration
MONDO:0017437	amelia of upper limb	oboInOwl:hasDbXref	Orphanet:294967	Isolated amelia of upper limb	semapv:ManualMappingCuration
MONDO:0017438	amelia of lower limb	oboInOwl:hasDbXref	Orphanet:294969	Isolated amelia of lower limb	semapv:ManualMappingCuration
MONDO:0017439	tetra-amelia	oboInOwl:hasDbXref	Orphanet:294971	Isolated tetra-amelia	semapv:ManualMappingCuration
MONDO:0017440	humeral agenesis/hypoplasia	oboInOwl:hasDbXref	Orphanet:294973	Isolated humeral agenesis/hypoplasia	semapv:ManualMappingCuration
MONDO:0017441	congenital absence of upper arm and forearm with hand present	oboInOwl:hasDbXref	Orphanet:294975	Isolated absence of upper arm and forearm with hand present	semapv:ManualMappingCuration
MONDO:0017442	congenital absence of thigh and lower leg with foot present	oboInOwl:hasDbXref	Orphanet:294977	Isolated absence of thigh and lower leg with foot present	semapv:ManualMappingCuration
MONDO:0017443	congenital absence of both forearm and hand	oboInOwl:hasDbXref	Orphanet:294979	Isolated absence of both forearm and hand	semapv:ManualMappingCuration
MONDO:0017444	congenital absence of both lower leg and foot	oboInOwl:hasDbXref	Orphanet:294981	Isolated absence of both lower leg and foot	semapv:ManualMappingCuration
MONDO:0017445	acheiria	oboInOwl:hasDbXref	Orphanet:294983	Isolated acheiria	semapv:ManualMappingCuration
MONDO:0017446	apodia	oboInOwl:hasDbXref	Orphanet:294986	Isolated apodia	semapv:ManualMappingCuration
MONDO:0017447	obsolete congenital absence/hypoplasia of thumb	oboInOwl:hasDbXref	Orphanet:294988	Isolated hypoplasia of thumb	semapv:ManualMappingCuration
MONDO:0017448	obsolete congenital absence/hypoplasia of fingers excluding thumb	oboInOwl:hasDbXref	Orphanet:294990	OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb	semapv:ManualMappingCuration
MONDO:0017449	split hand	oboInOwl:hasDbXref	Orphanet:294992	OBSOLETE: Split hand	semapv:ManualMappingCuration
MONDO:0017450	split foot	oboInOwl:hasDbXref	Orphanet:294994	OBSOLETE: Split foot	semapv:ManualMappingCuration
MONDO:0017451	non-syndromic brachydactyly of fingers	oboInOwl:hasDbXref	Orphanet:294996	OBSOLETE: Brachydactyly of fingers	semapv:ManualMappingCuration
MONDO:0017452	non-syndromic brachydactyly of toes	oboInOwl:hasDbXref	Orphanet:294998	OBSOLETE: Brachydactyly of toes	semapv:ManualMappingCuration
MONDO:0017453	fetal parvovirus syndrome	oboInOwl:hasDbXref	Orphanet:295	Fetal parvovirus syndrome	semapv:ManualMappingCuration
MONDO:0017454	triphalangeal thumb-polysyndactyly syndrome	oboInOwl:hasDbXref	Orphanet:2950	Triphalangeal thumb-polysyndactyly syndrome	semapv:ManualMappingCuration
MONDO:0017455	hyperphalangy	oboInOwl:hasDbXref	Orphanet:295002	Isolated hyperphalangy	semapv:ManualMappingCuration
MONDO:0017456	central polydactyly of fingers	oboInOwl:hasDbXref	Orphanet:295004	Central polydactyly	semapv:ManualMappingCuration
MONDO:0017457	Preaxial polydactyly of toes	oboInOwl:hasDbXref	Orphanet:295006	OBSOLETE: Preaxial polydactyly of toes	semapv:ManualMappingCuration
MONDO:0017458	obsolete postaxial polydactyly of toes	oboInOwl:hasDbXref	Orphanet:295008	OBSOLETE: Postaxial polydactyly of toes	semapv:ManualMappingCuration
MONDO:0017459	obsolete central polydactyly of toes	oboInOwl:hasDbXref	Orphanet:295010	OBSOLETE: Central polydactyly of toes	semapv:ManualMappingCuration
MONDO:0017460	syndactyly type 6	oboInOwl:hasDbXref	Orphanet:295012	Syndactyly type 6	semapv:ManualMappingCuration
MONDO:0017461	familial isolated clinodactyly of fingers	oboInOwl:hasDbXref	Orphanet:295014	Familial isolated clinodactyly of fingers	semapv:ManualMappingCuration
MONDO:0017462	congenital pseudoarthrosis of the tibia	oboInOwl:hasDbXref	Orphanet:295018	Congenital pseudoarthrosis of the tibia	semapv:ManualMappingCuration
MONDO:0017463	congenital pseudoarthrosis of the femur	oboInOwl:hasDbXref	Orphanet:295020	Congenital pseudoarthrosis of the femur	semapv:ManualMappingCuration
MONDO:0017464	congenital pseudoarthrosis of the fibula	oboInOwl:hasDbXref	Orphanet:295022	Congenital pseudoarthrosis of the fibula	semapv:ManualMappingCuration
MONDO:0017465	congenital pseudoarthrosis of the radius	oboInOwl:hasDbXref	Orphanet:295024	Congenital pseudoarthrosis of the radius	semapv:ManualMappingCuration
MONDO:0017466	congenital pseudoarthrosis of the ulna	oboInOwl:hasDbXref	Orphanet:295026	Congenital pseudoarthrosis of the ulna	semapv:ManualMappingCuration
MONDO:0017467	tibio-fibular synostosis	oboInOwl:hasDbXref	Orphanet:295028	Isolated tibio-fibular synostosis	semapv:ManualMappingCuration
MONDO:0017468	congenital shoulder dislocation	oboInOwl:hasDbXref	Orphanet:295030	True congenital shoulder dislocation	semapv:ManualMappingCuration
MONDO:0017469	congenital elbow dislocation	oboInOwl:hasDbXref	Orphanet:295032	Isolated congenital radial head dislocation	semapv:ManualMappingCuration
MONDO:0017470	congenital knee dislocation	oboInOwl:hasDbXref	Orphanet:295034	Congenital knee dislocation	semapv:ManualMappingCuration
MONDO:0017471	congenital patella dislocation	oboInOwl:hasDbXref	Orphanet:295036	Congenital patella dislocation	semapv:ManualMappingCuration
MONDO:0017472	patella aplasia/hypoplasia, unilateral	oboInOwl:hasDbXref	Orphanet:295038	OBSOLETE: Patella aplasia/hypoplasia, unilateral	semapv:ManualMappingCuration
MONDO:0017473	patella aplasia/hypoplasia, bilateral	oboInOwl:hasDbXref	Orphanet:295041	OBSOLETE: Patella aplasia/hypoplasia, bilateral	semapv:ManualMappingCuration
MONDO:0017474	macrodactyly of fingers	oboInOwl:hasDbXref	Orphanet:295044	Macrodactyly of fingers	semapv:ManualMappingCuration
MONDO:0017475	macrodactyly of toes	oboInOwl:hasDbXref	Orphanet:295047	Macrodactyly of toes	semapv:ManualMappingCuration
MONDO:0017476	upper limb hypertrophy	oboInOwl:hasDbXref	Orphanet:295049	Upper limb hypertrophy	semapv:ManualMappingCuration
MONDO:0017477	lower limb hypertrophy	oboInOwl:hasDbXref	Orphanet:295051	Lower limb hypertrophy	semapv:ManualMappingCuration
MONDO:0017478	amelia of upper limb, unilateral	oboInOwl:hasDbXref	Orphanet:295053	OBSOLETE: Amelia of upper limb, unilateral	semapv:ManualMappingCuration
MONDO:0017479	amelia of upper limb, bilateral	oboInOwl:hasDbXref	Orphanet:295055	OBSOLETE: Amelia of upper limb, bilateral	semapv:ManualMappingCuration
MONDO:0017480	amelia of lower limb, unilateral	oboInOwl:hasDbXref	Orphanet:295057	OBSOLETE: Amelia of lower limb, unilateral	semapv:ManualMappingCuration
MONDO:0017481	amelia of lower limb, bilateral	oboInOwl:hasDbXref	Orphanet:295059	OBSOLETE: Amelia of lower limb, bilateral	semapv:ManualMappingCuration
MONDO:0017482	humeral agenesis/hypoplasia, unilateral	oboInOwl:hasDbXref	Orphanet:295061	OBSOLETE: Humeral agenesis/hypoplasia, unilateral	semapv:ManualMappingCuration
MONDO:0017483	humeral agenesis/hypoplasia, bilateral	oboInOwl:hasDbXref	Orphanet:295063	OBSOLETE: Humeral agenesis/hypoplasia, bilateral	semapv:ManualMappingCuration
MONDO:0017484	femoral agenesis/hypoplasia, unilateral	oboInOwl:hasDbXref	Orphanet:295065	OBSOLETE: Femoral agenesis/hypoplasia, unilateral	semapv:ManualMappingCuration
MONDO:0017485	femoral agenesis/hypoplasia, bilateral	oboInOwl:hasDbXref	Orphanet:295067	OBSOLETE: Femoral agenesis/hypoplasia, bilateral	semapv:ManualMappingCuration
MONDO:0017486	radial hemimelia, unilateral	oboInOwl:hasDbXref	Orphanet:295069	OBSOLETE: Radial hemimelia, unilateral	semapv:ManualMappingCuration
MONDO:0017487	radial hemimelia, bilateral	oboInOwl:hasDbXref	Orphanet:295071	OBSOLETE: Radial hemimelia, bilateral	semapv:ManualMappingCuration
MONDO:0017488	ulnar hemimelia, bilateral	oboInOwl:hasDbXref	Orphanet:295073	OBSOLETE: Ulnar hemimelia, bilateral	semapv:ManualMappingCuration
MONDO:0017489	ulnar hemimelia, unilateral	oboInOwl:hasDbXref	Orphanet:295075	OBSOLETE: Ulnar hemimelia, unilateral	semapv:ManualMappingCuration
MONDO:0017490	tibial hemimelia, unilateral	oboInOwl:hasDbXref	Orphanet:295077	OBSOLETE: Tibial hemimelia, unilateral	semapv:ManualMappingCuration
MONDO:0017491	tibial hemimelia, bilateral	oboInOwl:hasDbXref	Orphanet:295079	OBSOLETE: Tibial hemimelia, bilateral	semapv:ManualMappingCuration
MONDO:0017492	fibular hemimelia, unilateral	oboInOwl:hasDbXref	Orphanet:295081	OBSOLETE: Fibular hemimelia, unilateral	semapv:ManualMappingCuration
MONDO:0017493	fibular hemimelia, bilateral	oboInOwl:hasDbXref	Orphanet:295083	OBSOLETE: Fibular hemimelia, bilateral	semapv:ManualMappingCuration
MONDO:0017494	obsolete congenital absence of upper arm and forearm with hand present, unilateral	oboInOwl:hasDbXref	Orphanet:295085	OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral	semapv:ManualMappingCuration
MONDO:0017495	obsolete congenital absence of upper arm and forearm with hand present, bilateral	oboInOwl:hasDbXref	Orphanet:295087	OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral	semapv:ManualMappingCuration
MONDO:0017496	congenital absence of thigh and lower leg with foot present, unilateral	oboInOwl:hasDbXref	Orphanet:295089	OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral	semapv:ManualMappingCuration
MONDO:0017497	congenital absence of thigh and lower leg with foot present, bilateral	oboInOwl:hasDbXref	Orphanet:295091	OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral	semapv:ManualMappingCuration
MONDO:0017498	congenital absence of both forearm and hand, unilateral	oboInOwl:hasDbXref	Orphanet:295093	OBSOLETE: Congenital absence of both forearm and hand, unilateral	semapv:ManualMappingCuration
MONDO:0017499	congenital absence of both forearm and hand, bilateral	oboInOwl:hasDbXref	Orphanet:295095	OBSOLETE: Congenital absence of both forearm and hand, bilateral	semapv:ManualMappingCuration
MONDO:0017500	congenital absence of both lower leg and foot, unilateral	oboInOwl:hasDbXref	Orphanet:295097	OBSOLETE: Congenital absence of both lower leg and foot, unilateral	semapv:ManualMappingCuration
MONDO:0017501	congenital absence of both lower leg and foot, bilateral	oboInOwl:hasDbXref	Orphanet:295099	OBSOLETE: Congenital absence of both lower leg and foot, bilateral	semapv:ManualMappingCuration
MONDO:0017502	acheiria, unilateral	oboInOwl:hasDbXref	Orphanet:295101	OBSOLETE: Acheiria, unilateral	semapv:ManualMappingCuration
MONDO:0017503	acheiria, bilateral	oboInOwl:hasDbXref	Orphanet:295103	OBSOLETE: Acheiria, bilateral	semapv:ManualMappingCuration
MONDO:0017504	apodia, unilateral	oboInOwl:hasDbXref	Orphanet:295105	OBSOLETE: Apodia, unilateral	semapv:ManualMappingCuration
MONDO:0017505	apodia, bilateral	oboInOwl:hasDbXref	Orphanet:295107	OBSOLETE: Apodia, bilateral	semapv:ManualMappingCuration
MONDO:0017506	obsolete congenital absence/hypoplasia of thumb, unilateral	oboInOwl:hasDbXref	Orphanet:295110	OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral	semapv:ManualMappingCuration
MONDO:0017507	obsolete congenital absence/hypoplasia of thumb, bilateral	oboInOwl:hasDbXref	Orphanet:295112	OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral	semapv:ManualMappingCuration
MONDO:0017508	obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral	oboInOwl:hasDbXref	Orphanet:295114	OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral	semapv:ManualMappingCuration
MONDO:0017509	adactyly of foot, unilateral	oboInOwl:hasDbXref	Orphanet:295116	OBSOLETE: Adactyly of foot, unilateral	semapv:ManualMappingCuration
MONDO:0017510	adactyly of foot, bilateral	oboInOwl:hasDbXref	Orphanet:295118	OBSOLETE: Adactyly of foot, bilateral	semapv:ManualMappingCuration
MONDO:0017511	split hand, unilateral	oboInOwl:hasDbXref	Orphanet:295120	OBSOLETE: Split hand, unilateral	semapv:ManualMappingCuration
MONDO:0017512	split hand, bilateral	oboInOwl:hasDbXref	Orphanet:295122	OBSOLETE: Split hand, bilateral	semapv:ManualMappingCuration
MONDO:0017513	split foot, unilateral	oboInOwl:hasDbXref	Orphanet:295124	OBSOLETE: Split foot, unilateral	semapv:ManualMappingCuration
MONDO:0017514	split foot, bilateral	oboInOwl:hasDbXref	Orphanet:295126	OBSOLETE: Split foot, bilateral	semapv:ManualMappingCuration
MONDO:0017515	brachydactyly of fingers, unilateral	oboInOwl:hasDbXref	Orphanet:295128	OBSOLETE: Brachydactyly of fingers, unilateral	semapv:ManualMappingCuration
MONDO:0017516	brachydactyly of fingers, bilateral	oboInOwl:hasDbXref	Orphanet:295130	OBSOLETE: Brachydactyly of fingers, bilateral	semapv:ManualMappingCuration
MONDO:0017517	brachydactyly of toes, unilateral	oboInOwl:hasDbXref	Orphanet:295132	OBSOLETE: Brachydactyly of toes, unilateral	semapv:ManualMappingCuration
MONDO:0017518	brachydactyly of toes, bilateral	oboInOwl:hasDbXref	Orphanet:295134	OBSOLETE: Brachydactyly of toes, bilateral	semapv:ManualMappingCuration
MONDO:0017519	symbrachydactyly of hand and foot, unilateral	oboInOwl:hasDbXref	Orphanet:295136	OBSOLETE: Symbrachydactyly of hand and foot, unilateral	semapv:ManualMappingCuration
MONDO:0017520	symbrachydactyly of hand and foot, bilateral	oboInOwl:hasDbXref	Orphanet:295138	OBSOLETE: Symbrachydactyly of hand and foot, bilateral	semapv:ManualMappingCuration
MONDO:0017521	hyperphalangy, unilateral	oboInOwl:hasDbXref	Orphanet:295140	OBSOLETE: Hyperphalangy, unilateral	semapv:ManualMappingCuration
MONDO:0017522	hyperphalangy, bilateral	oboInOwl:hasDbXref	Orphanet:295142	OBSOLETE: Hyperphalangy, bilateral	semapv:ManualMappingCuration
MONDO:0017523	polydactyly of a biphalangeal thumb, unilateral	oboInOwl:hasDbXref	Orphanet:295144	OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral	semapv:ManualMappingCuration
MONDO:0017524	polydactyly of a biphalangeal thumb, bilateral	oboInOwl:hasDbXref	Orphanet:295146	OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral	semapv:ManualMappingCuration
MONDO:0017525	polydactyly of a triphalangeal thumb, unilateral	oboInOwl:hasDbXref	Orphanet:295148	OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral	semapv:ManualMappingCuration
MONDO:0017526	polydactyly of a triphalangeal thumb, bilateral	oboInOwl:hasDbXref	Orphanet:295150	OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral	semapv:ManualMappingCuration
MONDO:0017527	polydactyly of an index finger, unilateral	oboInOwl:hasDbXref	Orphanet:295152	OBSOLETE: Polydactyly of an index finger, unilateral	semapv:ManualMappingCuration
MONDO:0017528	polydactyly of an index finger, bilateral	oboInOwl:hasDbXref	Orphanet:295154	OBSOLETE: Polydactyly of an index finger, bilateral	semapv:ManualMappingCuration
MONDO:0017529	polysyndactyly, unilateral	oboInOwl:hasDbXref	Orphanet:295159	OBSOLETE: Polysyndactyly, unilateral	semapv:ManualMappingCuration
MONDO:0017530	polysyndactyly, bilateral	oboInOwl:hasDbXref	Orphanet:295161	OBSOLETE: Polysyndactyly, bilateral	semapv:ManualMappingCuration
MONDO:0017531	postaxial polydactyly type A, unilateral	oboInOwl:hasDbXref	Orphanet:295163	OBSOLETE: Postaxial polydactyly type A, unilateral	semapv:ManualMappingCuration
MONDO:0017532	postaxial polydactyly type A, bilateral	oboInOwl:hasDbXref	Orphanet:295165	OBSOLETE: Postaxial polydactyly type A, bilateral	semapv:ManualMappingCuration
MONDO:0017533	postaxial polydactyly type B, unilateral	oboInOwl:hasDbXref	Orphanet:295167	OBSOLETE: Postaxial polydactyly type B, unilateral	semapv:ManualMappingCuration
MONDO:0017534	postaxial polydactyly type B, bilateral	oboInOwl:hasDbXref	Orphanet:295169	OBSOLETE: Postaxial polydactyly type B, bilateral	semapv:ManualMappingCuration
MONDO:0017535	central polydactyly of fingers, unilateral	oboInOwl:hasDbXref	Orphanet:295171	OBSOLETE: Central polydactyly of fingers, unilateral	semapv:ManualMappingCuration
MONDO:0017536	central polydactyly of fingers, bilateral	oboInOwl:hasDbXref	Orphanet:295173	OBSOLETE: Central polydactyly of fingers, bilateral	semapv:ManualMappingCuration
MONDO:0017537	Preaxial polydactyly of toes, unilateral	oboInOwl:hasDbXref	Orphanet:295175	OBSOLETE: Preaxial polydactyly of toes, unilateral	semapv:ManualMappingCuration
MONDO:0017538	Preaxial polydactyly of toes, bilateral	oboInOwl:hasDbXref	Orphanet:295177	OBSOLETE: Preaxial polydactyly of toes, bilateral	semapv:ManualMappingCuration
MONDO:0017539	obsolete postaxial polydactyly of toes, unilateral	oboInOwl:hasDbXref	Orphanet:295179	OBSOLETE: Postaxial polydactyly of toes, unilateral	semapv:ManualMappingCuration
MONDO:0017540	obsolete postaxial polydactyly of toes, bilateral	oboInOwl:hasDbXref	Orphanet:295181	OBSOLETE: Postaxial polydactyly of toes, bilateral	semapv:ManualMappingCuration
MONDO:0017541	obsolete central polydactyly of toes, unilateral	oboInOwl:hasDbXref	Orphanet:295183	OBSOLETE: Central polydactyly of toes, unilateral	semapv:ManualMappingCuration
MONDO:0017542	obsolete central polydactyly of toes, bilateral	oboInOwl:hasDbXref	Orphanet:295185	OBSOLETE: Central polydactyly of toes, bilateral	semapv:ManualMappingCuration
MONDO:0017543	zygodactyly type 2	oboInOwl:hasDbXref	Orphanet:295189	Zygodactyly type 2	semapv:ManualMappingCuration
MONDO:0017544	zygodactyly type 3	oboInOwl:hasDbXref	Orphanet:295191	Zygodactyly type 3	semapv:ManualMappingCuration
MONDO:0017545	zygodactyly type 4	oboInOwl:hasDbXref	Orphanet:295193	Zygodactyly type 4	semapv:ManualMappingCuration
MONDO:0017546	congenital vertical talus, unilateral	oboInOwl:hasDbXref	Orphanet:295201	Congenital vertical talus, unilateral	semapv:ManualMappingCuration
MONDO:0017547	congenital vertical talus, bilateral	oboInOwl:hasDbXref	Orphanet:295203	Congenital vertical talus, bilateral	semapv:ManualMappingCuration
MONDO:0017548	humero-radio-ulnar synostosis, unilateral	oboInOwl:hasDbXref	Orphanet:295205	OBSOLETE: Humero-radio-ulnar synostosis, unilateral	semapv:ManualMappingCuration
MONDO:0017549	humero-radio-ulnar synostosis, bilateral	oboInOwl:hasDbXref	Orphanet:295207	OBSOLETE: Humero-radio-ulnar synostosis, bilateral	semapv:ManualMappingCuration
MONDO:0017550	humero-radial synostosis, unilateral	oboInOwl:hasDbXref	Orphanet:295209	OBSOLETE: Humero-radial synostosis, unilateral	semapv:ManualMappingCuration
MONDO:0017551	humero-radial synostosis, bilateral	oboInOwl:hasDbXref	Orphanet:295211	OBSOLETE: Humero-radial synostosis, bilateral	semapv:ManualMappingCuration
MONDO:0017552	humero-ulnar synostosis, unilateral	oboInOwl:hasDbXref	Orphanet:295213	OBSOLETE: Humero-ulnar synostosis, unilateral	semapv:ManualMappingCuration
MONDO:0017553	humero-ulnar synostosis, bilateral	oboInOwl:hasDbXref	Orphanet:295215	OBSOLETE: Humero-ulnar synostosis, bilateral	semapv:ManualMappingCuration
MONDO:0017554	radio-ulnar synostosis, unilateral	oboInOwl:hasDbXref	Orphanet:295217	OBSOLETE: Radio-ulnar synostosis, unilateral	semapv:ManualMappingCuration
MONDO:0017555	radio-ulnar synostosis, bilateral	oboInOwl:hasDbXref	Orphanet:295219	OBSOLETE: Radio-ulnar synostosis, bilateral	semapv:ManualMappingCuration
MONDO:0017556	Madelung deformity, unilateral	oboInOwl:hasDbXref	Orphanet:295221	OBSOLETE: Madelung deformity, unilateral	semapv:ManualMappingCuration
MONDO:0017557	Madelung deformity, bilateral	oboInOwl:hasDbXref	Orphanet:295223	OBSOLETE: Madelung deformity, bilateral	semapv:ManualMappingCuration
MONDO:0017558	congenital elbow dislocation, unilateral	oboInOwl:hasDbXref	Orphanet:295225	Congenital elbow dislocation, unilateral	semapv:ManualMappingCuration
MONDO:0017559	congenital elbow dislocation, bilateral	oboInOwl:hasDbXref	Orphanet:295227	Congenital elbow dislocation, bilateral	semapv:ManualMappingCuration
MONDO:0017560	congenital genu recurvatum	oboInOwl:hasDbXref	Orphanet:295229	Congenital genu recurvatum	semapv:ManualMappingCuration
MONDO:0017561	congenital genu flexum	oboInOwl:hasDbXref	Orphanet:295232	Congenital genu flexum	semapv:ManualMappingCuration
MONDO:0017562	congenital patella dislocation, unilateral	oboInOwl:hasDbXref	Orphanet:295234	OBSOLETE: Congenital patella dislocation, unilateral	semapv:ManualMappingCuration
MONDO:0017563	congenital patella dislocation, bilateral	oboInOwl:hasDbXref	Orphanet:295237	OBSOLETE: Congenital patella dislocation, bilateral	semapv:ManualMappingCuration
MONDO:0017564	macrodactyly of fingers, unilateral	oboInOwl:hasDbXref	Orphanet:295239	Macrodactyly of fingers, unilateral	semapv:ManualMappingCuration
MONDO:0017565	macrodactyly of fingers, bilateral	oboInOwl:hasDbXref	Orphanet:295241	Macrodactyly of fingers, bilateral	semapv:ManualMappingCuration
MONDO:0017566	macrodactyly of toes, unilateral	oboInOwl:hasDbXref	Orphanet:295243	Macrodactyly of toes, unilateral	semapv:ManualMappingCuration
MONDO:0017567	macrodactyly of toes, bilateral	oboInOwl:hasDbXref	Orphanet:295245	Macrodactyly of toes, bilateral	semapv:ManualMappingCuration
MONDO:0017568	Prata-Liberal-Goncalves syndrome	oboInOwl:hasDbXref	Orphanet:2956	Acrodysplasia scoliosis	semapv:ManualMappingCuration
MONDO:0017569	de Barsy syndrome	oboInOwl:hasDbXref	Orphanet:2962	De Barsy syndrome	semapv:ManualMappingCuration
MONDO:0017570	leukocyte adhesion deficiency	oboInOwl:hasDbXref	Orphanet:2968	Leukocyte adhesion deficiency	semapv:ManualMappingCuration
MONDO:0017571	Proteus-like syndrome	oboInOwl:hasDbXref	Orphanet:2969	Proteus-like syndrome	semapv:ManualMappingCuration
MONDO:0017572	tick-borne encephalitis	oboInOwl:hasDbXref	Orphanet:297	Tick-borne encephalitis	semapv:ManualMappingCuration
MONDO:0017573	46,XX disorder of sex development-anorectal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:2973	46,XX difference of sex development-anorectal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0017574	chronic intestinal pseudoobstruction	oboInOwl:hasDbXref	Orphanet:2978	Chronic intestinal pseudoobstruction	semapv:ManualMappingCuration
MONDO:0017575	mitochondrial neurogastrointestinal encephalomyopathy	oboInOwl:hasDbXref	Orphanet:298	Mitochondrial neurogastrointestinal encephalomyopathy	semapv:ManualMappingCuration
MONDO:0017576	46,XX disorder of sex development	oboInOwl:hasDbXref	Orphanet:2982	46,XX difference of sex development	semapv:ManualMappingCuration
MONDO:0017577	spontaneous periodic hypothermia	oboInOwl:hasDbXref	Orphanet:29822	Spontaneous periodic hypothermia	semapv:ManualMappingCuration
MONDO:0017578	disorder of thiamine metabolism and transport	oboInOwl:hasDbXref	Orphanet:298644	Disorder of thiamine metabolism and transport	semapv:ManualMappingCuration
MONDO:0017579	Baraitser-Winter cerebrofrontofacial syndrome	oboInOwl:hasDbXref	Orphanet:2995	Baraitser-Winter cerebrofrontofacial syndrome	semapv:ManualMappingCuration
MONDO:0017580	11p15.4 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:300305	11p15.4 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0017581	obsolete familial infantile gigantism	oboInOwl:hasDbXref	Orphanet:300373	X-linked acrogigantism	semapv:ManualMappingCuration
MONDO:0017582	pituitary adenocarcinoma	oboInOwl:hasDbXref	Orphanet:300385	Pituitary carcinoma	semapv:ManualMappingCuration
MONDO:0017583	mirror polydactyly-vertebral segmentation-limbs defects syndrome	oboInOwl:hasDbXref	Orphanet:3004	Mirror polydactyly-vertebral segmentation-limbs defects syndrome	semapv:ManualMappingCuration
MONDO:0017584	Sagliker syndrome	oboInOwl:hasDbXref	Orphanet:300493	Sagliker syndrome	semapv:ManualMappingCuration
MONDO:0017585	painful orbital and systemic neurofibromas-marfanoid habitus syndrome	oboInOwl:hasDbXref	Orphanet:300501	Painful orbital and systemic neurofibromas-marfanoid habitus syndrome	semapv:ManualMappingCuration
MONDO:0017586	onychocytic matricoma	oboInOwl:hasDbXref	Orphanet:300504	Onychocytic matricoma	semapv:ManualMappingCuration
MONDO:0017587	onychomatricoma	oboInOwl:hasDbXref	Orphanet:300512	Onychomatricoma	semapv:ManualMappingCuration
MONDO:0017588	nail tumor	oboInOwl:hasDbXref	Orphanet:300515	Rare nail tumor	semapv:ManualMappingCuration
MONDO:0017589	follicular cholangitis and pancreatitis	oboInOwl:hasDbXref	Orphanet:300552	Follicular cholangitis and pancreatitis	semapv:ManualMappingCuration
MONDO:0017590	carcinoma of the ampulla of vater	oboInOwl:hasDbXref	Orphanet:300557	Carcinoma of the ampulla of Vater	semapv:ManualMappingCuration
MONDO:0017591	combined pulmonary fibrosis-emphysema syndrome	oboInOwl:hasDbXref	Orphanet:300564	Combined pulmonary fibrosis-emphysema syndrome	semapv:ManualMappingCuration
MONDO:0017592	staphylococcal toxemia	oboInOwl:hasDbXref	Orphanet:300579	Staphylococcal toxemia	semapv:ManualMappingCuration
MONDO:0017593	juvenile amyotrophic lateral sclerosis	oboInOwl:hasDbXref	Orphanet:300605	Juvenile amyotrophic lateral sclerosis	semapv:ManualMappingCuration
MONDO:0017594	indolent B-cell non-Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:300842	Indolent B-cell non-Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0017595	aggressive B-cell non-Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:300846	Aggressive B-cell non-Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0017596	diffuse large B-cell lymphoma of the central nervous system	oboInOwl:hasDbXref	Orphanet:300849	Diffuse large B-cell lymphoma of the central nervous system	semapv:ManualMappingCuration
MONDO:0017597	T-cell/histiocyte rich large B cell lymphoma	oboInOwl:hasDbXref	Orphanet:300857	T-cell/histiocyte rich large B cell lymphoma	semapv:ManualMappingCuration
MONDO:0017598	primary cutaneous anaplastic large cell lymphoma	oboInOwl:hasDbXref	Orphanet:300865	Primary cutaneous anaplastic large cell lymphoma	semapv:ManualMappingCuration
MONDO:0017599	splenic diffuse red pulp small B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:300869	Splenic diffuse red pulp small B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0017600	hairy cell leukemia variant	oboInOwl:hasDbXref	Orphanet:300878	Hairy cell leukemia variant	semapv:ManualMappingCuration
MONDO:0017601	diffuse large B-cell lymphoma with chronic inflammation	oboInOwl:hasDbXref	Orphanet:300888	Diffuse large B-cell lymphoma with chronic inflammation	semapv:ManualMappingCuration
MONDO:0017602	ALK-positive anaplastic large cell lymphoma	oboInOwl:hasDbXref	Orphanet:300895	ALK-positive anaplastic large cell lymphoma	semapv:ManualMappingCuration
MONDO:0017603	ALK-negative anaplastic large cell lymphoma	oboInOwl:hasDbXref	Orphanet:300903	ALK-negative anaplastic large cell lymphoma	semapv:ManualMappingCuration
MONDO:0017604	marginal zone lymphoma	oboInOwl:hasDbXref	Orphanet:300912	Marginal zone lymphoma	semapv:ManualMappingCuration
MONDO:0017607	caudal regression sequence	oboInOwl:hasDbXref	Orphanet:3027	Caudal regression syndrome	semapv:ManualMappingCuration
MONDO:0017609	renal tubular dysgenesis	oboInOwl:hasDbXref	Orphanet:3033	Renal tubular dysgenesis	semapv:ManualMappingCuration
MONDO:0017610	epidermolysis bullosa simplex	oboInOwl:hasDbXref	Orphanet:304	Epidermolysis bullosa simplex	semapv:ManualMappingCuration
MONDO:0017611	pituitary tumor	oboInOwl:hasDbXref	Orphanet:304055	Pituitary tumor	semapv:ManualMappingCuration
MONDO:0017612	junctional epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:305	Junctional epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0017613	intellectual disability-hypotonia-skin hyperpigmentation syndrome	oboInOwl:hasDbXref	Orphanet:3050	OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome	semapv:ManualMappingCuration
MONDO:0017614	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	oboInOwl:hasDbXref	Orphanet:3055	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	semapv:ManualMappingCuration
MONDO:0017615	benign familial infantile epilepsy	oboInOwl:hasDbXref	Orphanet:306	Self-limited infantile epilepsy	semapv:ManualMappingCuration
MONDO:0017616	X-linked intellectual disability, Schutz type	oboInOwl:hasDbXref	Orphanet:3062	OBSOLETE: X-linked intellectual disability, Schutz type	semapv:ManualMappingCuration
MONDO:0017617	acquired adult-onset immunodeficiency	oboInOwl:hasDbXref	Orphanet:306431	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies	semapv:ManualMappingCuration
MONDO:0017618	congenital sucrase-isomaltase deficiency with starch intolerance	oboInOwl:hasDbXref	Orphanet:306436	OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance	semapv:ManualMappingCuration
MONDO:0017619	congenital sucrase-isomaltase deficiency with minimal starch tolerance	oboInOwl:hasDbXref	Orphanet:306446	OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance	semapv:ManualMappingCuration
MONDO:0017620	congenital sucrase-isomaltase deficiency without starch intolerance	oboInOwl:hasDbXref	Orphanet:306462	OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance	semapv:ManualMappingCuration
MONDO:0017621	congenital sucrase-isomaltase deficiency with starch and lactose intolerance	oboInOwl:hasDbXref	Orphanet:306474	OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance	semapv:ManualMappingCuration
MONDO:0017622	congenital sucrase-isomaltase deficiency without sucrose intolerance	oboInOwl:hasDbXref	Orphanet:306486	OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance	semapv:ManualMappingCuration
MONDO:0017623	PTEN hamartoma tumor syndrome	oboInOwl:hasDbXref	Orphanet:306498	PTEN hamartoma tumor syndrome	semapv:ManualMappingCuration
MONDO:0017624	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	oboInOwl:hasDbXref	Orphanet:306516	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis	semapv:ManualMappingCuration
MONDO:0017625	familial primary hypomagnesemia with hypocalcuria	oboInOwl:hasDbXref	Orphanet:306519	OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria	semapv:ManualMappingCuration
MONDO:0017626	familial primary hypomagnesemia with normocalcuria	oboInOwl:hasDbXref	Orphanet:306522	OBSOLETE: Genetic primary hypomagnesemia with normocalciuria	semapv:ManualMappingCuration
MONDO:0017627	congenital hereditary facial paralysis-variable hearing loss syndrome	oboInOwl:hasDbXref	Orphanet:306530	Congenital hereditary facial paralysis-variable hearing loss syndrome	semapv:ManualMappingCuration
MONDO:0017628	myospherulosis	oboInOwl:hasDbXref	Orphanet:306553	Myospherulosis	semapv:ManualMappingCuration
MONDO:0017629	obsolete sodium channelopathy-related small fiber neuropathy	oboInOwl:hasDbXref	Orphanet:306577	Hereditary sodium channelopathy-related small fibers neuropathy	semapv:ManualMappingCuration
MONDO:0017630	X-linked complicated spastic paraplegia type 1	oboInOwl:hasDbXref	Orphanet:306617	X-linked complicated spastic paraplegia type 1	semapv:ManualMappingCuration
MONDO:0017631	obsolete rare tumor of gallbladder and extrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:306633	Rare tumor of gallbladder and extrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0017632	obsolete rare tumor of liver and intrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:306636	Rare tumor of liver and intrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0017633	obsolete rare intoxication due to medical products	oboInOwl:hasDbXref	Orphanet:306640	Rare intoxication due to medical products	semapv:ManualMappingCuration
MONDO:0017634	non-infectious anterior uveitis	oboInOwl:hasDbXref	Orphanet:306648	Non-infectious anterior uveitis	semapv:ManualMappingCuration
MONDO:0017635	obsolete parkinsonian syndrome due to neurodegenerative disease	oboInOwl:hasDbXref	Orphanet:306666	Rare parkinsonian syndrome due to neurodegenerative disease	semapv:ManualMappingCuration
MONDO:0017636	hemiparkinsonism-hemiatrophy syndrome	oboInOwl:hasDbXref	Orphanet:306669	Hemiparkinsonism-hemiatrophy syndrome	semapv:ManualMappingCuration
MONDO:0017637	obsolete rare parkinsonian syndrome due to intoxication	oboInOwl:hasDbXref	Orphanet:306679	Rare parkinsonian syndrome due to intoxication	semapv:ManualMappingCuration
MONDO:0017638	manganese poisoning	oboInOwl:hasDbXref	Orphanet:306682	Manganese poisoning	semapv:ManualMappingCuration
MONDO:0017639	carbon monoxide-induced parkinsonism	oboInOwl:hasDbXref	Orphanet:306686	Delayed encephalopathy due to carbon monoxide poisoning	semapv:ManualMappingCuration
MONDO:0017640	cyanide-induced parkinsonism	oboInOwl:hasDbXref	Orphanet:306692	Cyanide-induced parkinsonism-dystonia	semapv:ManualMappingCuration
MONDO:0017641	obsolete miscellaneous movement disorder due to neurodegenerative disease	oboInOwl:hasDbXref	Orphanet:306695	Miscellaneous movement disorder due to neurodegenerative disease	semapv:ManualMappingCuration
MONDO:0017642	intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome	oboInOwl:hasDbXref	Orphanet:3067	OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0017643	obsolete frontotemporal neurodegeneration with movement disorder	oboInOwl:hasDbXref	Orphanet:306708	Frontotemporal neurodegeneration with movement disorder	semapv:ManualMappingCuration
MONDO:0017644	obsolete rare tremor disorder	oboInOwl:hasDbXref	Orphanet:306712	Rare tremor disorder	semapv:ManualMappingCuration
MONDO:0017645	obsolete rare choreic movement disorder	oboInOwl:hasDbXref	Orphanet:306715	Rare choreic movement disorder	semapv:ManualMappingCuration
MONDO:0017646	obsolete neurodegenerative disease with chorea	oboInOwl:hasDbXref	Orphanet:306719	Neurodegenerative disease with chorea	semapv:ManualMappingCuration
MONDO:0017647	obsolete postinfectious autoimmune disease with chorea	oboInOwl:hasDbXref	Orphanet:306727	Postinfectious autoimmune disease with chorea	semapv:ManualMappingCuration
MONDO:0017648	Sydenham chorea	oboInOwl:hasDbXref	Orphanet:306731	Sydenham chorea	semapv:ManualMappingCuration
MONDO:0017649	hemidystonia-hemiatrophy syndrome	oboInOwl:hasDbXref	Orphanet:306741	Hemidystonia-hemiatrophy syndrome	semapv:ManualMappingCuration
MONDO:0017650	obsolete rare myoclonus	oboInOwl:hasDbXref	Orphanet:306747	Rare myoclonus	semapv:ManualMappingCuration
MONDO:0017651	obsolete primary myoclonus	oboInOwl:hasDbXref	Orphanet:306750	Primary myoclonus	semapv:ManualMappingCuration
MONDO:0017652	obsolete rare disease with myoclonus as a major feature	oboInOwl:hasDbXref	Orphanet:306753	Rare disease with myoclonus as a major feature	semapv:ManualMappingCuration
MONDO:0017653	obsolete epilepsy and/or ataxia with myoclonus as major feature	oboInOwl:hasDbXref	Orphanet:306756	Epilepsy and/or ataxia with myoclonus as a major feature	semapv:ManualMappingCuration
MONDO:0017654	obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature	oboInOwl:hasDbXref	Orphanet:306759	Non progressive epilepsy and/or ataxia with myoclonus as a major feature	semapv:ManualMappingCuration
MONDO:0017655	obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature	oboInOwl:hasDbXref	Orphanet:306762	OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature	semapv:ManualMappingCuration
MONDO:0017656	obsolete motor stereotypies	oboInOwl:hasDbXref	Orphanet:306765	Motor stereotypies	semapv:ManualMappingCuration
MONDO:0017657	obsolete rare paroxysmal movement disorder	oboInOwl:hasDbXref	Orphanet:306768	Rare paroxysmal movement disorder	semapv:ManualMappingCuration
MONDO:0017658	hyperekplexia	oboInOwl:hasDbXref	Orphanet:306773	Hyperekplexia	semapv:ManualMappingCuration
MONDO:0017659	sporadic hyperekplexia	oboInOwl:hasDbXref	Orphanet:306776	Sporadic hyperekplexia	semapv:ManualMappingCuration
MONDO:0017660	obsolete rare genetic parkinsonian disorder	oboInOwl:hasDbXref	Orphanet:307052	Rare genetic parkinsonian disorder	semapv:ManualMappingCuration
MONDO:0017661	obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease	oboInOwl:hasDbXref	Orphanet:307055	Rare parkinsonian syndrome due to genetic neurodegenerative disease	semapv:ManualMappingCuration
MONDO:0017662	obsolete miscellaneous movement disorder due to genetic neurodegenerative disease	oboInOwl:hasDbXref	Orphanet:307058	Miscellaneous movement disorder due to genetic neurodegenerative disease	semapv:ManualMappingCuration
MONDO:0017663	obsolete inherited tremor disorder	oboInOwl:hasDbXref	Orphanet:307061	Rare genetic tremor disorder	semapv:ManualMappingCuration
MONDO:0017663	obsolete inherited tremor disorder	oboInOwl:hasDbXref	Orphanet:307064	Rare genetic myoclonus	semapv:ManualMappingCuration
MONDO:0017665	obsolete rare genetic disease with myoclonus as a major feature	oboInOwl:hasDbXref	Orphanet:307067	Rare genetic disease with myoclonus as a major feature	semapv:ManualMappingCuration
MONDO:0017666	diffuse palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307141	Diffuse palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017667	obsolete isolated diffuse palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307148	Isolated diffuse palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017668	intellectual disability-short stature-hypertelorism syndrome	oboInOwl:hasDbXref	Orphanet:3074	Intellectual disability-short stature-hypertelorism syndrome	semapv:ManualMappingCuration
MONDO:0017669	obsolete disease with diffuse palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:307711	Disease with diffuse palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0017670	obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307773	Autosomal dominant diffuse mutilating palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017671	obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:307804	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0017672	focal palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307837	Focal palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017673	obsolete isolated focal palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307846	Isolated focal palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017674	obsolete disease with focal palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:307871	Disease with focal palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0017675	punctate palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307967	Punctate palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017676	obsolete marginal papular palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:307995	Marginal papular palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0017677	focal acral hyperkeratosis	oboInOwl:hasDbXref	Orphanet:308013	Focal acral hyperkeratosis	semapv:ManualMappingCuration
MONDO:0017678	obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:308023	Disease with punctate palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0017679	obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:308031	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0017680	obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:308041	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0017682	intellectual disability-polydactyly-uncombable hair syndrome	oboInOwl:hasDbXref	Orphanet:3082	Intellectual disability-polydactyly-uncombable hair syndrome	semapv:ManualMappingCuration
MONDO:0017683	methylcobalamin deficiency type cblDv1	oboInOwl:hasDbXref	Orphanet:308380	Methylcobalamin deficiency type cblDv1	semapv:ManualMappingCuration
MONDO:0017684	disorder of beta and omega amino acid metabolism	oboInOwl:hasDbXref	Orphanet:308407	Disorder of beta and omega amino acid metabolism	semapv:ManualMappingCuration
MONDO:0017685	vitamin B12-responsive methylmalonic acidemia, type cblDv2	oboInOwl:hasDbXref	Orphanet:308442	Vitamin B12-responsive methylmalonic acidemia, type cblDv2	semapv:ManualMappingCuration
MONDO:0017686	inborn aminoacylase deficiency	oboInOwl:hasDbXref	Orphanet:308448	Aminoacylase deficiency	semapv:ManualMappingCuration
MONDO:0017687	disorder of neutral amino acid transport	oboInOwl:hasDbXref	Orphanet:308451	Disorder of neutral amino acid transport	semapv:ManualMappingCuration
MONDO:0017688	disorder of glycolysis	oboInOwl:hasDbXref	Orphanet:308459	Disorder of glycolysis	semapv:ManualMappingCuration
MONDO:0017689	disorder of fructose metabolism	oboInOwl:hasDbXref	Orphanet:308463	Disorder of fructose metabolism	semapv:ManualMappingCuration
MONDO:0017690	disorder of galactose metabolism	oboInOwl:hasDbXref	Orphanet:308467	Disorder of galactose metabolism	semapv:ManualMappingCuration
MONDO:0017691	erythrocyte galactose epimerase deficiency	oboInOwl:hasDbXref	Orphanet:308473	Erythrocyte galactose epimerase deficiency	semapv:ManualMappingCuration
MONDO:0017692	generalized galactose epimerase deficiency	oboInOwl:hasDbXref	Orphanet:308487	Generalized galactose epimerase deficiency	semapv:ManualMappingCuration
MONDO:0017693	obsolete glycogen storage disease due to glycogen synthase deficiency	oboInOwl:hasDbXref	Orphanet:308520	Glycogen storage disease due to glycogen synthase deficiency	semapv:ManualMappingCuration
MONDO:0017694	glycogen storage disease due to acid maltase deficiency, infantile onset	oboInOwl:hasDbXref	Orphanet:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	semapv:ManualMappingCuration
MONDO:0017695	glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	oboInOwl:hasDbXref	Orphanet:308621	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	semapv:ManualMappingCuration
MONDO:0017696	glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	oboInOwl:hasDbXref	Orphanet:308638	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	semapv:ManualMappingCuration
MONDO:0017697	glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	oboInOwl:hasDbXref	Orphanet:308655	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	semapv:ManualMappingCuration
MONDO:0017698	glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	oboInOwl:hasDbXref	Orphanet:308670	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	semapv:ManualMappingCuration
MONDO:0017699	glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	oboInOwl:hasDbXref	Orphanet:308684	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	semapv:ManualMappingCuration
MONDO:0017700	glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	oboInOwl:hasDbXref	Orphanet:308698	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	semapv:ManualMappingCuration
MONDO:0017701	glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	oboInOwl:hasDbXref	Orphanet:308712	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	semapv:ManualMappingCuration
MONDO:0017703	disorder of glyoxylate metabolism	oboInOwl:hasDbXref	Orphanet:308998	Disorder of glyoxylate metabolism	semapv:ManualMappingCuration
MONDO:0017704	familial partial epilepsy	oboInOwl:hasDbXref	Orphanet:309	Familial partial epilepsy	semapv:ManualMappingCuration
MONDO:0017705	congenital pulmonary venous return anomaly	oboInOwl:hasDbXref	Orphanet:3090	Congenital pulmonary venous return anomaly	semapv:ManualMappingCuration
MONDO:0017706	disorder of carbohydrate transmembrane transport and absorption	oboInOwl:hasDbXref	Orphanet:309001	Disorder of carbohydrate absorption and transport	semapv:ManualMappingCuration
MONDO:0017708	mevalonate kinase deficiency	oboInOwl:hasDbXref	Orphanet:309025	Mevalonate kinase deficiency	semapv:ManualMappingCuration
MONDO:0017709	obsolete disorder of lipid absorption and transport	oboInOwl:hasDbXref	Orphanet:309028	Disorder of lipid absorption and transport	semapv:ManualMappingCuration
MONDO:0017710	obsolete congenital systemic veins anomaly	oboInOwl:hasDbXref	Orphanet:3091	Congenital systemic veins anomaly	semapv:ManualMappingCuration
MONDO:0017711	pancreatic colipase deficiency	oboInOwl:hasDbXref	Orphanet:309108	Pancreatic colipase deficiency	semapv:ManualMappingCuration
MONDO:0017712	combined pancreatic lipase-colipase deficiency	oboInOwl:hasDbXref	Orphanet:309111	Combined pancreatic lipase-colipase deficiency	semapv:ManualMappingCuration
MONDO:0017713	disorder of fatty acid oxidation and ketogenesis	oboInOwl:hasDbXref	Orphanet:309115	Disorder of fatty acid oxidation and ketogenesis	semapv:ManualMappingCuration
MONDO:0017714	acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:309120	Acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0017715	3-hydroxyacyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:309127	3-hydroxyacyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0017716	disorder of carnitine cycle and carnitine transport	oboInOwl:hasDbXref	Orphanet:309130	Disorder of carnitine cycle and carnitine transport	semapv:ManualMappingCuration
MONDO:0017717	obsolete metabolic disease due to other fatty acid oxidation disorder	oboInOwl:hasDbXref	Orphanet:309133	Metabolic disease due to other fatty acid oxidation disorder	semapv:ManualMappingCuration
MONDO:0017718	obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	oboInOwl:hasDbXref	Orphanet:309136	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	semapv:ManualMappingCuration
MONDO:0017719	gangliosidosis	oboInOwl:hasDbXref	Orphanet:309144	Gangliosidosis	semapv:ManualMappingCuration
MONDO:0017720	GM2 gangliosidosis	oboInOwl:hasDbXref	Orphanet:309152	GM2 gangliosidosis	semapv:ManualMappingCuration
MONDO:0017721	Sandhoff disease, infantile form	oboInOwl:hasDbXref	Orphanet:309155	Sandhoff disease, infantile form	semapv:ManualMappingCuration
MONDO:0017722	Sandhoff disease, juvenile form	oboInOwl:hasDbXref	Orphanet:309162	Sandhoff disease, juvenile form	semapv:ManualMappingCuration
MONDO:0017723	Sandhoff disease, adult form	oboInOwl:hasDbXref	Orphanet:309169	Sandhoff disease, adult form	semapv:ManualMappingCuration
MONDO:0017724	Tay-Sachs disease, b variant, infantile form	oboInOwl:hasDbXref	Orphanet:309178	Tay-Sachs disease, infantile form	semapv:ManualMappingCuration
MONDO:0017725	Tay-Sachs disease, b variant, juvenile form	oboInOwl:hasDbXref	Orphanet:309185	Tay-Sachs disease, juvenile form	semapv:ManualMappingCuration
MONDO:0017726	Tay-Sachs disease, B variant, adult form	oboInOwl:hasDbXref	Orphanet:309192	Tay-Sachs disease, adult form	semapv:ManualMappingCuration
MONDO:0017727	fixed subaortic stenosis	oboInOwl:hasDbXref	Orphanet:3092	Fixed subaortic stenosis	semapv:ManualMappingCuration
MONDO:0017728	Tay-Sachs disease, B1 variant	oboInOwl:hasDbXref	Orphanet:309239	OBSOLETE: Tay-Sachs disease, B1 variant	semapv:ManualMappingCuration
MONDO:0017729	metachromatic leukodystrophy, late infantile form	oboInOwl:hasDbXref	Orphanet:309256	Metachromatic leukodystrophy, late infantile form	semapv:ManualMappingCuration
MONDO:0017730	metachromatic leukodystrophy, adult form	oboInOwl:hasDbXref	Orphanet:309271	Metachromatic leukodystrophy, adult form	semapv:ManualMappingCuration
MONDO:0017731	glycoproteinosis	oboInOwl:hasDbXref	Orphanet:309279	Glycoproteinosis	semapv:ManualMappingCuration
MONDO:0017732	alpha-mannosidosis, infantile form	oboInOwl:hasDbXref	Orphanet:309282	Alpha-mannosidosis, infantile form	semapv:ManualMappingCuration
MONDO:0017733	alpha-mannosidosis, adult form	oboInOwl:hasDbXref	Orphanet:309288	Alpha-mannosidosis, adult form	semapv:ManualMappingCuration
MONDO:0017734	sialidosis	oboInOwl:hasDbXref	Orphanet:309294	Sialidosis	semapv:ManualMappingCuration
MONDO:0017735	congenital aortic valve stenosis	oboInOwl:hasDbXref	Orphanet:3093	Congenital aortic valve stenosis	semapv:ManualMappingCuration
MONDO:0017736	disorder of sialic acid metabolism	oboInOwl:hasDbXref	Orphanet:309319	Disorder of sialic acid metabolism	semapv:ManualMappingCuration
MONDO:0017737	intermediate severe Salla disease	oboInOwl:hasDbXref	Orphanet:309331	Intermediate severe Salla disease	semapv:ManualMappingCuration
MONDO:0017738	lysosomal glycogen storage disease	oboInOwl:hasDbXref	Orphanet:309337	Lysosomal glycogen storage disease	semapv:ManualMappingCuration
MONDO:0017739	disorder of lysosomal-related organelles	oboInOwl:hasDbXref	Orphanet:309340	Disorder of lysosomal-related organelles	semapv:ManualMappingCuration
MONDO:0017740	disorder of protein N-glycosylation	oboInOwl:hasDbXref	Orphanet:309347	Disorder of protein N-glycosylation	semapv:ManualMappingCuration
MONDO:0017741	disorder of protein O-glycosylation	oboInOwl:hasDbXref	Orphanet:309447	Disorder of protein O-glycosylation	semapv:ManualMappingCuration
MONDO:0017742	obsolete disorder of O-xylosylglycan synthesis	oboInOwl:hasDbXref	Orphanet:309450	Disorder of O-xylosylglycan synthesis	semapv:ManualMappingCuration
MONDO:0017743	obsolete disorder of O-N-acetylgalactosaminylglycan synthesis	oboInOwl:hasDbXref	Orphanet:309458	Disorder of O-N-acetylgalactosaminylglycan synthesis	semapv:ManualMappingCuration
MONDO:0017744	obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	oboInOwl:hasDbXref	Orphanet:309463	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	semapv:ManualMappingCuration
MONDO:0017745	obsolete disorder of O-mannosylglycan synthesis	oboInOwl:hasDbXref	Orphanet:309469	Disorder of O-mannosylglycan synthesis	semapv:ManualMappingCuration
MONDO:0017746	atypical Rett syndrome	oboInOwl:hasDbXref	Orphanet:3095	Atypical Rett syndrome	semapv:ManualMappingCuration
MONDO:0017747	disorder of fucoglycosan synthesis	oboInOwl:hasDbXref	Orphanet:309505	Disorder of fucoglycosan synthesis	semapv:ManualMappingCuration
MONDO:0017748	inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	oboInOwl:hasDbXref	Orphanet:309515	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	semapv:ManualMappingCuration
MONDO:0017749	disorder of multiple glycosylation	oboInOwl:hasDbXref	Orphanet:309526	Disorder of multiple glycosylation	semapv:ManualMappingCuration
MONDO:0017750	defect in conserved oligomeric Golgi complex	oboInOwl:hasDbXref	Orphanet:309568	Defect in conserved oligomeric Golgi complex	semapv:ManualMappingCuration
MONDO:0017752	defect in V-ATPase	oboInOwl:hasDbXref	Orphanet:309778	Defect in V-ATPase	semapv:ManualMappingCuration
MONDO:0017753	obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation	oboInOwl:hasDbXref	Orphanet:309810	Disorder of peroxisomal alpha-, beta- and omega-oxidation	semapv:ManualMappingCuration
MONDO:0017754	inborn disorder of porphyrin metabolism	oboInOwl:hasDbXref	Orphanet:309813	Disorder of porphyrin and heme metabolism	semapv:ManualMappingCuration
MONDO:0017755	inborn disorder of bilirubin metabolism	oboInOwl:hasDbXref	Orphanet:309816	Disorder of bilirubin metabolism and excretion	semapv:ManualMappingCuration
MONDO:0017756	obsolete disorder of pterin metabolism	oboInOwl:hasDbXref	Orphanet:309819	Disorder of pterin metabolism	semapv:ManualMappingCuration
MONDO:0017757	disorder of metabolite absorption and transport	oboInOwl:hasDbXref	Orphanet:309824	Disorder of metabolite absorption and transport	semapv:ManualMappingCuration
MONDO:0017758	disorder of vitamin and non-protein cofactor absorption and transport	oboInOwl:hasDbXref	Orphanet:309827	Disorder of vitamin and non-protein cofactor absorption and transport	semapv:ManualMappingCuration
MONDO:0017759	disorder of catecholamine synthesis	oboInOwl:hasDbXref	Orphanet:309830	Disorder of catecholamine synthesis	semapv:ManualMappingCuration
MONDO:0017760	obsolete disorder of other vitamins and cofactors metabolism and transport	oboInOwl:hasDbXref	Orphanet:309833	Disorder of other vitamins and cofactors metabolism and transport	semapv:ManualMappingCuration
MONDO:0017761	disorder of mineral absorption and transport	oboInOwl:hasDbXref	Orphanet:309836	Disorder of mineral absorption and transport	semapv:ManualMappingCuration
MONDO:0017762	disorder of copper metabolism	oboInOwl:hasDbXref	Orphanet:309839	Disorder of copper metabolism	semapv:ManualMappingCuration
MONDO:0017763	disorder of iron metabolism and transport	oboInOwl:hasDbXref	Orphanet:309842	Disorder of iron metabolism and transport	semapv:ManualMappingCuration
MONDO:0017764	disorder of zinc metabolism	oboInOwl:hasDbXref	Orphanet:309845	Disorder of zinc metabolism and transport	semapv:ManualMappingCuration
MONDO:0017765	disorder of magnesium transport	oboInOwl:hasDbXref	Orphanet:309848	Disorder of magnesium transport	semapv:ManualMappingCuration
MONDO:0017766	disorder of manganese transport	oboInOwl:hasDbXref	Orphanet:309851	Disorder of manganese transport	semapv:ManualMappingCuration
MONDO:0017767	rheumatic fever	oboInOwl:hasDbXref	Orphanet:3099	Rheumatic fever	semapv:ManualMappingCuration
MONDO:0017768	reflex epilepsy	oboInOwl:hasDbXref	Orphanet:310	Reflex epilepsy	semapv:ManualMappingCuration
MONDO:0017769	acquired immunodeficiency	oboInOwl:hasDbXref	Orphanet:310050	Acquired immunodeficiency	semapv:ManualMappingCuration
MONDO:0017770	Robinow-like syndrome	oboInOwl:hasDbXref	Orphanet:3105	Robinow-like syndrome	semapv:ManualMappingCuration
MONDO:0017771	Mayer-Rokitansky-Kuster-Hauser syndrome	oboInOwl:hasDbXref	Orphanet:3109	Mayer-Rokitansky-Küster-Hauser syndrome	semapv:ManualMappingCuration
MONDO:0017772	oral erosive lichen	oboInOwl:hasDbXref	Orphanet:31142	NON RARE IN EUROPE: Oral erosive lichen	semapv:ManualMappingCuration
MONDO:0017773	hypoalphalipoproteinemia	oboInOwl:hasDbXref	Orphanet:31153	Hypoalphalipoproteinemia	semapv:ManualMappingCuration
MONDO:0017774	hypobetalipoproteinemia	oboInOwl:hasDbXref	Orphanet:31154	Hypobetalipoproteinemia	semapv:ManualMappingCuration
MONDO:0017775	melioidosis	oboInOwl:hasDbXref	Orphanet:31202	Melioidosis	semapv:ManualMappingCuration
MONDO:0017776	nocardiosis	oboInOwl:hasDbXref	Orphanet:31204	Nocardiosis	semapv:ManualMappingCuration
MONDO:0017778	lamellar ichthyosis	oboInOwl:hasDbXref	Orphanet:313	Lamellar ichthyosis	semapv:ManualMappingCuration
MONDO:0017779	alpha-N-acetylgalactosaminidase deficiency	oboInOwl:hasDbXref	Orphanet:3137	Alpha-N-acetylgalactosaminidase deficiency	semapv:ManualMappingCuration
MONDO:0017780	20p13 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:313781	20p13 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0017781	12p12.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:313884	12p12.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0017782	developmental and speech delay due to SOX5 deficiency	oboInOwl:hasDbXref	Orphanet:313892	Developmental and speech delay due to SOX5 deficiency	semapv:ManualMappingCuration
MONDO:0017783	congenital pancreatic cyst	oboInOwl:hasDbXref	Orphanet:313906	Congenital pancreatic cyst	semapv:ManualMappingCuration
MONDO:0017784	Epstein-Barr virus-associated gastric carcinoma	oboInOwl:hasDbXref	Orphanet:313920	Epstein-Barr virus-associated gastric carcinoma	semapv:ManualMappingCuration
MONDO:0017785	PENS syndrome	oboInOwl:hasDbXref	Orphanet:313936	PENS syndrome	semapv:ManualMappingCuration
MONDO:0017786	2q23.1 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:313947	2q23.1 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0017787	erythroderma desquamativum	oboInOwl:hasDbXref	Orphanet:314	Erythroderma desquamativum	semapv:ManualMappingCuration
MONDO:0017788	contractures - webbed neck - micrognathia - hypoplastic nipples syndrome	oboInOwl:hasDbXref	Orphanet:314002	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome	semapv:ManualMappingCuration
MONDO:0017789	idiopathic linear interstitial keratitis	oboInOwl:hasDbXref	Orphanet:314017	Idiopathic linear interstitial keratitis	semapv:ManualMappingCuration
MONDO:0017790	gastric adenocarcinoma and proximal polyposis of the stomach	oboInOwl:hasDbXref	Orphanet:314022	Gastric adenocarcinoma and proximal polyposis of the stomach	semapv:ManualMappingCuration
MONDO:0017791	high bone mass osteogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:314029	High bone mass osteogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0017792	7p22.1 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:314034	7p22.1 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0017793	marfanoid habitus-inguinal hernia-advanced bone age syndrome	oboInOwl:hasDbXref	Orphanet:314041	Marfanoid habitus-inguinal hernia-advanced bone age syndrome	semapv:ManualMappingCuration
MONDO:0017794	Xq12-q13.3 duplication syndrome	oboInOwl:hasDbXref	Orphanet:314389	Xq12-q13.3 duplication syndrome	semapv:ManualMappingCuration
MONDO:0017795	ameloblastoma	oboInOwl:hasDbXref	Orphanet:314419	Ameloblastoma	semapv:ManualMappingCuration
MONDO:0017797	obsolete rare odontologic tumor	oboInOwl:hasDbXref	Orphanet:314425	Rare odontogenic tumor	semapv:ManualMappingCuration
MONDO:0017798	Spigelian hernia-cryptorchidism syndrome	oboInOwl:hasDbXref	Orphanet:314432	Spigelian hernia-cryptorchidism syndrome	semapv:ManualMappingCuration
MONDO:0017799	Meigs syndrome	oboInOwl:hasDbXref	Orphanet:314451	Meigs syndrome	semapv:ManualMappingCuration
MONDO:0017800	pseudo-Meigs syndrome	oboInOwl:hasDbXref	Orphanet:314459	Pseudo-Meigs syndrome	semapv:ManualMappingCuration
MONDO:0017801	atypical Meigs syndrome	oboInOwl:hasDbXref	Orphanet:314466	Atypical Meigs syndrome	semapv:ManualMappingCuration
MONDO:0017802	ovarian fibrothecoma	oboInOwl:hasDbXref	Orphanet:314478	Ovarian fibrothecoma	semapv:ManualMappingCuration
MONDO:0017803	primary progressive apraxia of speech	oboInOwl:hasDbXref	Orphanet:314566	Primary progressive apraxia of speech	semapv:ManualMappingCuration
MONDO:0017804	autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	oboInOwl:hasDbXref	Orphanet:314572	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	semapv:ManualMappingCuration
MONDO:0017805	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	oboInOwl:hasDbXref	Orphanet:314575	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	semapv:ManualMappingCuration
MONDO:0017806	15q overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:314585	15q overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0017807	growing teratoma syndrome	oboInOwl:hasDbXref	Orphanet:314613	Growing teratoma syndrome	semapv:ManualMappingCuration
MONDO:0017808	duplication of the pituitary gland	oboInOwl:hasDbXref	Orphanet:314621	Duplication of the pituitary gland	semapv:ManualMappingCuration
MONDO:0017809	parkinsonism due to ATP13A2 deficiency	oboInOwl:hasDbXref	Orphanet:314632	CLN12 disease	semapv:ManualMappingCuration
MONDO:0017810	variant ABeta2M amyloidosis	oboInOwl:hasDbXref	Orphanet:314652	Variant ABeta2M amyloidosis	semapv:ManualMappingCuration
MONDO:0017811	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	oboInOwl:hasDbXref	Orphanet:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	semapv:ManualMappingCuration
MONDO:0017812	segmental progressive overgrowth syndrome with fibroadipose hyperplasia	oboInOwl:hasDbXref	Orphanet:314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	semapv:ManualMappingCuration
MONDO:0017813	van Maldergem syndrome	oboInOwl:hasDbXref	Orphanet:314679	Cerebrofacioarticular syndrome	semapv:ManualMappingCuration
MONDO:0017814	primary bone lymphoma	oboInOwl:hasDbXref	Orphanet:314684	Primary bone lymphoma	semapv:ManualMappingCuration
MONDO:0017815	acquired porencephaly	oboInOwl:hasDbXref	Orphanet:314697	Acquired porencephaly	semapv:ManualMappingCuration
MONDO:0017816	primary systemic amyloidosis	oboInOwl:hasDbXref	Orphanet:314701	Primary systemic amyloidosis	semapv:ManualMappingCuration
MONDO:0017817	primary localized amyloidosis	oboInOwl:hasDbXref	Orphanet:314709	Primary localized amyloidosis	semapv:ManualMappingCuration
MONDO:0017818	lethal arteriopathy syndrome due to fibulin-4 deficiency	oboInOwl:hasDbXref	Orphanet:314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency	semapv:ManualMappingCuration
MONDO:0017819	atypical dentin dysplasia due to SMOC2 deficiency	oboInOwl:hasDbXref	Orphanet:314721	Atypical dentin dysplasia due to SMOC2 deficiency	semapv:ManualMappingCuration
MONDO:0017820	obsolete obsolete disease with Cushing syndrome as a major feature	oboInOwl:hasDbXref	Orphanet:314749	Rare disease with adrenal Cushing syndrome as a major feature	semapv:ManualMappingCuration
MONDO:0017822	mixed functioning pituitary adenoma	oboInOwl:hasDbXref	Orphanet:314759	Mixed functioning pituitary adenoma	semapv:ManualMappingCuration
MONDO:0017823	somatomammotropinoma	oboInOwl:hasDbXref	Orphanet:314769	Somatomammotropinoma	semapv:ManualMappingCuration
MONDO:0017824	familial isolated pituitary adenoma	oboInOwl:hasDbXref	Orphanet:314777	Familial isolated pituitary adenoma	semapv:ManualMappingCuration
MONDO:0017825	silent pituitary adenoma	oboInOwl:hasDbXref	Orphanet:314786	Silent pituitary adenoma	semapv:ManualMappingCuration
MONDO:0017826	null pituitary adenoma	oboInOwl:hasDbXref	Orphanet:314790	Null pituitary adenoma	semapv:ManualMappingCuration
MONDO:0017827	malignant peripheral nerve sheath tumor	oboInOwl:hasDbXref	Orphanet:3148	Malignant peripheral nerve sheath tumor	semapv:ManualMappingCuration
MONDO:0017828	obsolete primary renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:314822	Primary renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0017829	autosomal dominant proximal renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:314889	Autosomal dominant proximal renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0017830	severe Canavan disease	oboInOwl:hasDbXref	Orphanet:314911	Severe Canavan disease	semapv:ManualMappingCuration
MONDO:0017831	mild Canavan disease	oboInOwl:hasDbXref	Orphanet:314918	Mild Canavan disease	semapv:ManualMappingCuration
MONDO:0017832	Mycobacterium xenopi infection	oboInOwl:hasDbXref	Orphanet:314946	OBSOLETE: Mycobacterium xenopi infection	semapv:ManualMappingCuration
MONDO:0017833	primary hypereosinophilic syndrome	oboInOwl:hasDbXref	Orphanet:314950	Primary hypereosinophilic syndrome	semapv:ManualMappingCuration
MONDO:0017834	secondary hypereosinophilic syndrome	oboInOwl:hasDbXref	Orphanet:314962	Secondary hypereosinophilic syndrome	semapv:ManualMappingCuration
MONDO:0017835	lymphocytic hypereosinophilic syndrome	oboInOwl:hasDbXref	Orphanet:314970	Lymphocytic hypereosinophilic syndrome	semapv:ManualMappingCuration
MONDO:0017836	erythrokeratoderma en cocardes	oboInOwl:hasDbXref	Orphanet:315	Erythrokeratoderma ''en cocardes''	semapv:ManualMappingCuration
MONDO:0017837	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	oboInOwl:hasDbXref	Orphanet:3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	semapv:ManualMappingCuration
MONDO:0017838	sclerosteosis	oboInOwl:hasDbXref	Orphanet:3152	Sclerosteosis	semapv:ManualMappingCuration
MONDO:0017839	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	oboInOwl:hasDbXref	Orphanet:315306	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	semapv:ManualMappingCuration
MONDO:0017840	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	oboInOwl:hasDbXref	Orphanet:315311	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	semapv:ManualMappingCuration
MONDO:0017841	obsolete autoimmune disease with skin involvement	oboInOwl:hasDbXref	Orphanet:315350	Autoimmune disease with skin involvement	semapv:ManualMappingCuration
MONDO:0017842	Senior-Loken syndrome	oboInOwl:hasDbXref	Orphanet:3156	Senior-Loken syndrome	semapv:ManualMappingCuration
MONDO:0017843	congenital pulmonary sequestration	oboInOwl:hasDbXref	Orphanet:3161	Congenital pulmonary sequestration	semapv:ManualMappingCuration
MONDO:0017844	Sezary syndrome	oboInOwl:hasDbXref	Orphanet:3162	Sézary syndrome	semapv:ManualMappingCuration
MONDO:0017845	spastic ataxia	oboInOwl:hasDbXref	Orphanet:316226	Spastic ataxia	semapv:ManualMappingCuration
MONDO:0017846	autosomal dominant spastic ataxia	oboInOwl:hasDbXref	Orphanet:316235	Autosomal dominant spastic ataxia	semapv:ManualMappingCuration
MONDO:0017847	autosomal recessive spastic ataxia	oboInOwl:hasDbXref	Orphanet:316240	Autosomal recessive spastic ataxia	semapv:ManualMappingCuration
MONDO:0017849	Siegler-Brewer-Carey syndrome	oboInOwl:hasDbXref	Orphanet:3167	Siegler-Brewer-Carey syndrome	semapv:ManualMappingCuration
MONDO:0017850	sirenomelia	oboInOwl:hasDbXref	Orphanet:3169	Sirenomelia	semapv:ManualMappingCuration
MONDO:0017851	erythrokeratodermia variabilis	oboInOwl:hasDbXref	Orphanet:308166	Erythrokeratoderma variabilis progressiva	semapv:ManualMappingCuration
MONDO:0017851	erythrokeratodermia variabilis	oboInOwl:hasDbXref	Orphanet:316	Progressive symmetric erythrokeratodermia	semapv:ManualMappingCuration
MONDO:0017851	erythrokeratodermia variabilis	oboInOwl:hasDbXref	Orphanet:317	Erythrokeratodermia variabilis	semapv:ManualMappingCuration
MONDO:0017852	infantile spasms-broad thumbs syndrome	oboInOwl:hasDbXref	Orphanet:3173	Infantile spasms-broad thumbs syndrome	semapv:ManualMappingCuration
MONDO:0017853	hypersensitivity pneumonitis	oboInOwl:hasDbXref	Orphanet:31740	Hypersensitivity pneumonitis	semapv:ManualMappingCuration
MONDO:0017855	T-B- severe combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:317419	T-B- severe combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0017856	X-linked spasticity-intellectual disability-epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:3175	X-linked spasticity-intellectual disability-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0017857	spina bifida-hypospadias syndrome	oboInOwl:hasDbXref	Orphanet:3176	Spina bifida-hypospadias syndrome	semapv:ManualMappingCuration
MONDO:0017858	acute erythroid leukemia	oboInOwl:hasDbXref	Orphanet:318	Acute erythroid leukemia	semapv:ManualMappingCuration
MONDO:0017859	colchicine poisoning	oboInOwl:hasDbXref	Orphanet:31824	Colchicine poisoning	semapv:ManualMappingCuration
MONDO:0017860	methanol poisoning	oboInOwl:hasDbXref	Orphanet:31825	Methanol poisoning	semapv:ManualMappingCuration
MONDO:0017861	ethylene glycol poisoning	oboInOwl:hasDbXref	Orphanet:31826	Ethylene glycol poisoning	semapv:ManualMappingCuration
MONDO:0017862	paraquat poisoning	oboInOwl:hasDbXref	Orphanet:31827	Paraquat poisoning	semapv:ManualMappingCuration
MONDO:0017863	digitalis poisoning	oboInOwl:hasDbXref	Orphanet:31828	Digitalis poisoning	semapv:ManualMappingCuration
MONDO:0017864	congenital pulmonary veins atresia or stenosis	oboInOwl:hasDbXref	Orphanet:3188	Congenital pulmonary veins atresia or stenosis	semapv:ManualMappingCuration
MONDO:0017865	congenital pulmonary valve stenosis	oboInOwl:hasDbXref	Orphanet:3189	Congenital pulmonary valvar stenosis	semapv:ManualMappingCuration
MONDO:0017866	subpulmonary stenosis	oboInOwl:hasDbXref	Orphanet:3190	Subpulmonary stenosis	semapv:ManualMappingCuration
MONDO:0017867	distal 17p13.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:319171	Distal 17p13.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0017868	diencephalic-mesencephalic junction dysplasia	oboInOwl:hasDbXref	Orphanet:319192	Diencephalic-mesencephalic junction dysplasia	semapv:ManualMappingCuration
MONDO:0017869	chondroectodermal dysplasia with night blindness	oboInOwl:hasDbXref	Orphanet:319195	Chondroectodermal dysplasia with night blindness	semapv:ManualMappingCuration
MONDO:0017870	supravalvular pulmonary stenosis	oboInOwl:hasDbXref	Orphanet:3192	Supravalvular pulmonary stenosis	semapv:ManualMappingCuration
MONDO:0017871	bilateral massive adrenal hemorrhage	oboInOwl:hasDbXref	Orphanet:319205	Bilateral massive adrenal hemorrhage	semapv:ManualMappingCuration
MONDO:0017872	Lujo hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319213	Lujo hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017874	Argentine hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319223	Argentine hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017875	Bolivian hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319229	Bolivian hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017876	Venezuelan hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319234	Venezuelan hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017877	Brazilian hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319239	Brazilian hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017878	Chapare hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319244	Chapare hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017879	hantavirus pulmonary syndrome	oboInOwl:hasDbXref	Orphanet:319247	Hantavirus pulmonary syndrome	semapv:ManualMappingCuration
MONDO:0017880	Rift valley fever	oboInOwl:hasDbXref	Orphanet:319251	Rift valley fever	semapv:ManualMappingCuration
MONDO:0017881	Kyasanur forest disease	oboInOwl:hasDbXref	Orphanet:319254	Kyasanur forest disease	semapv:ManualMappingCuration
MONDO:0017882	Omsk hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:319266	Omsk hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0017884	papillary renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:319298	Papillary renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0017885	chromophobe renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:319303	Chromophobe renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0017886	MIT family translocation renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:319308	MiT family translocation renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0017887	renal cell carcinoma associated with neuroblastoma	oboInOwl:hasDbXref	Orphanet:319314	OBSOLETE: Renal cell carcinoma associated with neuroblastoma	semapv:ManualMappingCuration
MONDO:0017890	tubulocystic renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:319325	Tubulocystic renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0017891	obsolete inherited renal cancer-predisposing syndrome	oboInOwl:hasDbXref	Orphanet:319328	Inherited renal cancer-predisposing syndrome	semapv:ManualMappingCuration
MONDO:0017892	autosomal recessive myogenic arthrogryposis multiplex congenita	oboInOwl:hasDbXref	Orphanet:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita	semapv:ManualMappingCuration
MONDO:0017893	inherited acute myeloid leukemia	oboInOwl:hasDbXref	Orphanet:319465	Inherited acute myeloid leukemia	semapv:ManualMappingCuration
MONDO:0017894	acute myeloid leukemia with CEBPA somatic mutations	oboInOwl:hasDbXref	Orphanet:319480	Acute myeloid leukemia with CEBPA somatic mutations	semapv:ManualMappingCuration
MONDO:0017895	familial papillary or follicular thyroid carcinoma	oboInOwl:hasDbXref	Orphanet:319487	Familial papillary or follicular thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0017896	familial nonmedullary thyroid carcinoma	oboInOwl:hasDbXref	Orphanet:319494	Familial nonmedullary thyroid carcinoma	semapv:ManualMappingCuration
MONDO:0017897	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	oboInOwl:hasDbXref	Orphanet:319535	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	semapv:ManualMappingCuration
MONDO:0017898	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	oboInOwl:hasDbXref	Orphanet:319539	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	semapv:ManualMappingCuration
MONDO:0017899	obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	oboInOwl:hasDbXref	Orphanet:319543	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	semapv:ManualMappingCuration
MONDO:0017900	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	oboInOwl:hasDbXref	Orphanet:319547	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	semapv:ManualMappingCuration
MONDO:0017901	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	oboInOwl:hasDbXref	Orphanet:319569	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	semapv:ManualMappingCuration
MONDO:0017902	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	oboInOwl:hasDbXref	Orphanet:319574	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	semapv:ManualMappingCuration
MONDO:0017903	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	oboInOwl:hasDbXref	Orphanet:319589	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	semapv:ManualMappingCuration
MONDO:0017904	steroid dehydrogenase deficiency-dental anomalies syndrome	oboInOwl:hasDbXref	Orphanet:3196	Steroid dehydrogenase deficiency-dental anomalies syndrome	semapv:ManualMappingCuration
MONDO:0017905	X-linked Mendelian susceptibility to mycobacterial diseases	oboInOwl:hasDbXref	Orphanet:319605	X-linked mendelian susceptibility to mycobacterial diseases	semapv:ManualMappingCuration
MONDO:0017906	amyloidosis cutis dyschromia	oboInOwl:hasDbXref	Orphanet:319635	Amyloidosis cutis dyschromia	semapv:ManualMappingCuration
MONDO:0017907	primary lymphoma of the conjunctiva	oboInOwl:hasDbXref	Orphanet:319667	Primary lymphoma of the conjunctiva	semapv:ManualMappingCuration
MONDO:0017909	inherited glutathione synthetase deficiency	oboInOwl:hasDbXref	Orphanet:32	Glutathione synthetase deficiency	semapv:ManualMappingCuration
MONDO:0017910	dehydrated hereditary stomatocytosis	oboInOwl:hasDbXref	Orphanet:3202	Dehydrated hereditary stomatocytosis	semapv:ManualMappingCuration
MONDO:0017912	obsolete X-linked pure spastic paraplegia	oboInOwl:hasDbXref	Orphanet:320332	X-linked pure spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017913	pure or complex hereditary spastic paraplegia	oboInOwl:hasDbXref	Orphanet:320335	Pure or complex hereditary spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017914	obsolete pure or complex autosomal dominant spastic paraplegia	oboInOwl:hasDbXref	Orphanet:320342	Pure or complex autosomal dominant spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017915	obsolete pure or complex autosomal recessive spastic paraplegia	oboInOwl:hasDbXref	Orphanet:320346	Pure or complex autosomal recessive spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017916	obsolete pure or complex X-linked spastic paraplegia	oboInOwl:hasDbXref	Orphanet:320350	Pure or complex X-linked spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017917	maternally-inherited spastic paraplegia	oboInOwl:hasDbXref	Orphanet:320360	MT-ATP6-related mitochondrial spastic paraplegia	semapv:ManualMappingCuration
MONDO:0017918	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:3207	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0017919	exstrophy-epispadias complex	oboInOwl:hasDbXref	Orphanet:322	Exstrophy-epispadias complex	semapv:ManualMappingCuration
MONDO:0017920	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	oboInOwl:hasDbXref	Orphanet:3224	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	semapv:ManualMappingCuration
MONDO:0017921	hearing loss-familial salivary gland insensitivity to aldosterone syndrome	oboInOwl:hasDbXref	Orphanet:3225	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome	semapv:ManualMappingCuration
MONDO:0017922	obsolete deafness-onychodystrophy syndrome	oboInOwl:hasDbXref	Orphanet:3231	Deafness-onychodystrophy syndrome	semapv:ManualMappingCuration
MONDO:0017923	multiple synostoses syndrome	oboInOwl:hasDbXref	Orphanet:3237	Multiple synostoses syndrome	semapv:ManualMappingCuration
MONDO:0017924	central nervous system calcification-deafness-tubular acidosis-anemia syndrome	oboInOwl:hasDbXref	Orphanet:3240	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	semapv:ManualMappingCuration
MONDO:0017925	T-cell immunodeficiency with epidermodysplasia verruciformis	oboInOwl:hasDbXref	Orphanet:324294	T-cell immunodeficiency with epidermodysplasia verruciformis	semapv:ManualMappingCuration
MONDO:0017926	multiple paragangliomas associated with polycythemia	oboInOwl:hasDbXref	Orphanet:324299	Multiple paragangliomas associated with polycythemia	semapv:ManualMappingCuration
MONDO:0017927	severe lateral tibial bowing with short stature	oboInOwl:hasDbXref	Orphanet:324307	Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0017928	9p13 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:324313	9p13 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0017929	congenital achiasma	oboInOwl:hasDbXref	Orphanet:324353	Congenital achiasma	semapv:ManualMappingCuration
MONDO:0017930	mixed sclerosing bone dystrophy with extra-skeletal manifestations	oboInOwl:hasDbXref	Orphanet:324364	Mixed sclerosing bone dystrophy with extra-skeletal manifestations	semapv:ManualMappingCuration
MONDO:0017931	hereditary inclusion body myopathy type 4	oboInOwl:hasDbXref	Orphanet:324381	Hereditary inclusion body myopathy type 4	semapv:ManualMappingCuration
MONDO:0017932	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	oboInOwl:hasDbXref	Orphanet:324416	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	semapv:ManualMappingCuration
MONDO:0017933	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	oboInOwl:hasDbXref	Orphanet:324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation	semapv:ManualMappingCuration
MONDO:0017934	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0017935	hyperinsulinism due to HNF1A deficiency	oboInOwl:hasDbXref	Orphanet:324575	Hyperinsulinism due to HNF1A deficiency	semapv:ManualMappingCuration
MONDO:0017936	benign Samaritan congenital myopathy	oboInOwl:hasDbXref	Orphanet:324581	Benign Samaritan congenital myopathy	semapv:ManualMappingCuration
MONDO:0017937	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	oboInOwl:hasDbXref	Orphanet:324585	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	semapv:ManualMappingCuration
MONDO:0017939	classic multiminicore myopathy	oboInOwl:hasDbXref	Orphanet:324604	Classic multiminicore myopathy	semapv:ManualMappingCuration
MONDO:0017940	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	oboInOwl:hasDbXref	Orphanet:324611	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	semapv:ManualMappingCuration
MONDO:0017941	chikungunya	oboInOwl:hasDbXref	Orphanet:324625	Chikungunya	semapv:ManualMappingCuration
MONDO:0017942	Hendra virus infection	oboInOwl:hasDbXref	Orphanet:324632	Hendra virus infection	semapv:ManualMappingCuration
MONDO:0017943	autoerythrocyte sensitization syndrome	oboInOwl:hasDbXref	Orphanet:324636	Autoerythrocyte sensitization syndrome	semapv:ManualMappingCuration
MONDO:0017944	invasive non-typhoidal salmonellosis	oboInOwl:hasDbXref	Orphanet:324648	Invasive non-typhoidal salmonellosis	semapv:ManualMappingCuration
MONDO:0017945	ABetaL34V amyloidosis	oboInOwl:hasDbXref	Orphanet:324703	ABetaL34V amyloidosis	semapv:ManualMappingCuration
MONDO:0017946	ABeta amyloidosis, Iowa type	oboInOwl:hasDbXref	Orphanet:324708	ABeta amyloidosis, Iowa type	semapv:ManualMappingCuration
MONDO:0017947	ABeta amyloidosis, Italian type	oboInOwl:hasDbXref	Orphanet:324713	ABeta amyloidosis, Italian type	semapv:ManualMappingCuration
MONDO:0017948	ABetaA21G amyloidosis	oboInOwl:hasDbXref	Orphanet:324718	ABetaA21G amyloidosis	semapv:ManualMappingCuration
MONDO:0017949	ABeta amyloidosis, Arctic type	oboInOwl:hasDbXref	Orphanet:324723	ABeta amyloidosis, Arctic type	semapv:ManualMappingCuration
MONDO:0017950	obsolete microcephalic primordial dwarfism	oboInOwl:hasDbXref	Orphanet:324761	Microcephalic primordial dwarfism	semapv:ManualMappingCuration
MONDO:0017951	trichorhinophalangeal syndrome	oboInOwl:hasDbXref	Orphanet:324764	Trichorhinophalangeal syndrome	semapv:ManualMappingCuration
MONDO:0017952	obsolete non-familial rare disease with dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:324767	Non-familial rare disease with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0017953	hereditary periodic fever syndrome	oboInOwl:hasDbXref	Orphanet:324924	Hereditary periodic fever syndrome	semapv:ManualMappingCuration
MONDO:0017954	obsolete pyogenic autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:324927	Pyogenic autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0017955	obsolete granulomatous autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:324930	Granulomatous autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0017956	obsolete mixed autoinflammatory and autoimmune syndrome	oboInOwl:hasDbXref	Orphanet:324933	Mixed autoinflammatory and autoimmune syndrome	semapv:ManualMappingCuration
MONDO:0017957	obsolete unclassified autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:324936	Unclassified autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0017958	magic syndrome	oboInOwl:hasDbXref	Orphanet:324972	MAGIC syndrome	semapv:ManualMappingCuration
MONDO:0017961	obsolete 46,XX disorder of gonadal development	oboInOwl:hasDbXref	Orphanet:325055	46,XX disorder of gonadal development	semapv:ManualMappingCuration
MONDO:0017962	obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess	oboInOwl:hasDbXref	Orphanet:325061	46,XX difference of sex development induced by fetoplacental androgens excess	semapv:ManualMappingCuration
MONDO:0017963	obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen	oboInOwl:hasDbXref	Orphanet:325093	46,XX difference of sex development induced by endogenous maternal-derived androgen	semapv:ManualMappingCuration
MONDO:0017964	obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen	oboInOwl:hasDbXref	Orphanet:325099	46,XX difference of sex development induced by exogenous maternal-derived androgen	semapv:ManualMappingCuration
MONDO:0017965	obsolete syndrome with 46,XX disorder of sex development	oboInOwl:hasDbXref	Orphanet:325109	Syndrome with 46,XX difference of sex development	semapv:ManualMappingCuration
MONDO:0017966	obsolete 46,XY disorder of gonadal development	oboInOwl:hasDbXref	Orphanet:325118	46,XY disorder of gonadal development	semapv:ManualMappingCuration
MONDO:0017967	testicular agenesis	oboInOwl:hasDbXref	Orphanet:325124	Testicular agenesis	semapv:ManualMappingCuration
MONDO:0017968	46,XY ovotesticular disorder of sex development	oboInOwl:hasDbXref	Orphanet:325345	46,XY ovotesticular difference of sex development	semapv:ManualMappingCuration
MONDO:0017969	obsolete 46,XY disorder of sex development of endocrine origin	oboInOwl:hasDbXref	Orphanet:325351	46,XY difference of sex development of endocrine origin	semapv:ManualMappingCuration
MONDO:0017970	obsolete 46,XY disorder of sex development due to impaired androgen production	oboInOwl:hasDbXref	Orphanet:325357	46,XY difference of sex development due to impaired androgen production	semapv:ManualMappingCuration
MONDO:0017971	obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect	oboInOwl:hasDbXref	Orphanet:325511	46,XY difference of sex development due to a cholesterol synthesis defect	semapv:ManualMappingCuration
MONDO:0017972	classic congenital lipoid adrenal hyperplasia due to STAR deficency	oboInOwl:hasDbXref	Orphanet:325524	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	semapv:ManualMappingCuration
MONDO:0017973	non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	oboInOwl:hasDbXref	Orphanet:325529	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	semapv:ManualMappingCuration
MONDO:0017974	obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors	oboInOwl:hasDbXref	Orphanet:325537	46,XY difference of sex development induced by maternal exposure to endocrine disruptors	semapv:ManualMappingCuration
MONDO:0017975	sex chromosome disorder of sex development	oboInOwl:hasDbXref	Orphanet:325546	Sex chromosome difference of sex development	semapv:ManualMappingCuration
MONDO:0017976	obsolete disorder of sex development of gynecological interest	oboInOwl:hasDbXref	Orphanet:325620	Difference of sex development of gynecological interest	semapv:ManualMappingCuration
MONDO:0017977	obsolete 46,XY disorder of sex development of gynecological interest	oboInOwl:hasDbXref	Orphanet:325632	46,XY difference of sex development of gynecological interest	semapv:ManualMappingCuration
MONDO:0017978	obsolete syndrome with disorder of sex development of gynecological interest	oboInOwl:hasDbXref	Orphanet:325638	Syndrome with difference of sex development of gynecological interest	semapv:ManualMappingCuration
MONDO:0017979	autoimmune lymphoproliferative syndrome	oboInOwl:hasDbXref	Orphanet:3261	Autoimmune lymphoproliferative syndrome	semapv:ManualMappingCuration
MONDO:0017980	syngnathia multiple anomalies	oboInOwl:hasDbXref	Orphanet:3262	Dobrow syndrome	semapv:ManualMappingCuration
MONDO:0017981	syngnathia-cleft palate syndrome	oboInOwl:hasDbXref	Orphanet:3263	Syngnathia-cleft palate syndrome	semapv:ManualMappingCuration
MONDO:0017983	humero-radio-ulnar synostosis	oboInOwl:hasDbXref	Orphanet:3266	Isolated humero-radio-ulnar synostosis	semapv:ManualMappingCuration
MONDO:0017984	obsolete familial lambdoid synostosis	oboInOwl:hasDbXref	Orphanet:3267	OBSOLETE: Familial lambdoid synostosis	semapv:ManualMappingCuration
MONDO:0017985	congenital radioulnar synostosis	oboInOwl:hasDbXref	Orphanet:3269	Isolated radio-ulnar synostosis	semapv:ManualMappingCuration
MONDO:0017986	disorder of plasmalogens biosynthesis	oboInOwl:hasDbXref	Orphanet:3276	Disorder of plasmalogens biosynthesis	semapv:ManualMappingCuration
MONDO:0017987	syringomyelia	oboInOwl:hasDbXref	Orphanet:3280	Syringomyelia	semapv:ManualMappingCuration
MONDO:0017988	multifocal atrial tachycardia	oboInOwl:hasDbXref	Orphanet:3282	Multifocal atrial tachycardia	semapv:ManualMappingCuration
MONDO:0017989	His bundle tachycardia	oboInOwl:hasDbXref	Orphanet:3283	His bundle tachycardia	semapv:ManualMappingCuration
MONDO:0017990	catecholaminergic polymorphic ventricular tachycardia	oboInOwl:hasDbXref	Orphanet:3286	Catecholaminergic polymorphic ventricular tachycardia	semapv:ManualMappingCuration
MONDO:0017991	Takayasu arteritis	oboInOwl:hasDbXref	Orphanet:3287	Takayasu arteritis	semapv:ManualMappingCuration
MONDO:0017991	Takayasu arteritis	oboInOwl:hasDbXref	Orphanet:99079	Cervical aortic arch	semapv:ManualMappingCuration
MONDO:0017992	autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	oboInOwl:hasDbXref	Orphanet:329173	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	semapv:ManualMappingCuration
MONDO:0017993	cerebral sinovenous thrombosis	oboInOwl:hasDbXref	Orphanet:329217	Cerebral sinovenous thrombosis	semapv:ManualMappingCuration
MONDO:0017994	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	oboInOwl:hasDbXref	Orphanet:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	semapv:ManualMappingCuration
MONDO:0017995	spondylocostal dysostosis-hypospadias-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:329252	OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0017996	obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency	oboInOwl:hasDbXref	Orphanet:329255	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency	semapv:ManualMappingCuration
MONDO:0017997	telecanthus-hypertelorism-strabismus-pes cavus syndrome	oboInOwl:hasDbXref	Orphanet:3293	Telecanthus-hypertelorism-strabismus-pes cavus syndrome	semapv:ManualMappingCuration
MONDO:0017998	PLA2G6-associated neurodegeneration	oboInOwl:hasDbXref	Orphanet:329303	PLA2G6-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0017999	fatty acid hydroxylase-associated neurodegeneration	oboInOwl:hasDbXref	Orphanet:329308	Fatty acid hydroxylase-associated neurodegeneration	semapv:ManualMappingCuration
MONDO:0018000	hereditary thrombocytosis with transverse limb defect	oboInOwl:hasDbXref	Orphanet:329319	Thrombocythemia with distal limb defects	semapv:ManualMappingCuration
MONDO:0018001	inverse Klippel-Trenaunay syndrome	oboInOwl:hasDbXref	Orphanet:329324	Inverse Klippel-Trénaunay syndrome	semapv:ManualMappingCuration
MONDO:0018002	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	oboInOwl:hasDbXref	Orphanet:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	semapv:ManualMappingCuration
MONDO:0018003	limbic encephalitis with DPP6 antibodies	oboInOwl:hasDbXref	Orphanet:329341	OBSOLETE: Limbic encephalitis with DPP6 antibodies	semapv:ManualMappingCuration
MONDO:0018004	acute megakaryoblastic leukemia without down syndrome	oboInOwl:hasDbXref	Orphanet:329469	Acute megakaryoblastic leukemia in children without Down syndrome	semapv:ManualMappingCuration
MONDO:0018005	spastic paraplegia-Paget disease of bone syndrome	oboInOwl:hasDbXref	Orphanet:329475	Spastic paraplegia-Paget disease of bone syndrome	semapv:ManualMappingCuration
MONDO:0018006	adult-onset distal myopathy due to VCP mutation	oboInOwl:hasDbXref	Orphanet:329478	Adult-onset distal myopathy due to VCP mutation	semapv:ManualMappingCuration
MONDO:0018007	mosaic genome-wide paternal uniparental disomy	oboInOwl:hasDbXref	Orphanet:329813	Mosaic genome-wide paternal uniparental disomy syndrome	semapv:ManualMappingCuration
MONDO:0018008	idiopathic giant cell myocarditis	oboInOwl:hasDbXref	Orphanet:329874	Idiopathic giant cell myocarditis	semapv:ManualMappingCuration
MONDO:0018009	non-hypoproteinemic hypertrophic gastropathy	oboInOwl:hasDbXref	Orphanet:329883	Non-hypoproteinemic hypertrophic gastropathy	semapv:ManualMappingCuration
MONDO:0018010	juvenile idiopathic inflammatory myopathy	oboInOwl:hasDbXref	Orphanet:329888	Juvenile idiopathic inflammatory myopathy	semapv:ManualMappingCuration
MONDO:0018011	juvenile overlap myositis	oboInOwl:hasDbXref	Orphanet:329894	Juvenile overlap myositis	semapv:ManualMappingCuration
MONDO:0018013	non-immunoglobulin-mediated membranoproliferative glomerulonephritis	oboInOwl:hasDbXref	Orphanet:329918	C3 glomerulopathy	semapv:ManualMappingCuration
MONDO:0018014	transient neonatal multiple acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:329942	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0018015	intermittent hydrarthrosis	oboInOwl:hasDbXref	Orphanet:329967	Intermittent hydrarthrosis	semapv:ManualMappingCuration
MONDO:0018016	classic neuroendocrine tumor of appendix	oboInOwl:hasDbXref	Orphanet:329977	Classic neuroendocrine tumor of appendix	semapv:ManualMappingCuration
MONDO:0018017	goblet cell carcinoma	oboInOwl:hasDbXref	Orphanet:329984	Goblet cell carcinoma	semapv:ManualMappingCuration
MONDO:0018018	wild type ATTR amyloidosis	oboInOwl:hasDbXref	Orphanet:330001	Wild type ATTR amyloidosis	semapv:ManualMappingCuration
MONDO:0018019	lead poisoning	oboInOwl:hasDbXref	Orphanet:330015	Lead poisoning	semapv:ManualMappingCuration
MONDO:0018020	mercury poisoning	oboInOwl:hasDbXref	Orphanet:330021	Mercury poisoning	semapv:ManualMappingCuration
MONDO:0018021	hypotrichosis-deafness syndrome	oboInOwl:hasDbXref	Orphanet:330029	Hypotrichosis-deafness syndrome	semapv:ManualMappingCuration
MONDO:0018022	hemoglobin Lepore-beta-thalassemia syndrome	oboInOwl:hasDbXref	Orphanet:330032	Hemoglobin Lepore-beta-thalassemia syndrome	semapv:ManualMappingCuration
MONDO:0018023	hemoglobin M disease	oboInOwl:hasDbXref	Orphanet:330041	Hemoglobin M disease	semapv:ManualMappingCuration
MONDO:0018024	hydroa vacciniforme	oboInOwl:hasDbXref	Orphanet:330058	Hydroa vacciniforme	semapv:ManualMappingCuration
MONDO:0018025	chronic actinic dermatitis	oboInOwl:hasDbXref	Orphanet:330064	Chronic actinic dermatitis	semapv:ManualMappingCuration
MONDO:0018026	tetraploidy syndrome	oboInOwl:hasDbXref	Orphanet:3305	Tetraploidy syndrome	semapv:ManualMappingCuration
MONDO:0018027	duplication/inversion 15q11	oboInOwl:hasDbXref	Orphanet:3306	Inverted duplicated chromosome 15 syndrome	semapv:ManualMappingCuration
MONDO:0018028	tetrasomy 5p	oboInOwl:hasDbXref	Orphanet:3309	Tetrasomy 5p syndrome	semapv:ManualMappingCuration
MONDO:0018029	congenital factor XIII deficiency	oboInOwl:hasDbXref	Orphanet:331	Congenital factor XIII deficiency	semapv:ManualMappingCuration
MONDO:0018030	tetrasomy 9p	oboInOwl:hasDbXref	Orphanet:3310	Tetrasomy 9p syndrome	semapv:ManualMappingCuration
MONDO:0018031	granulomatous slack skin disease	oboInOwl:hasDbXref	Orphanet:33111	Granulomatous slack skin	semapv:ManualMappingCuration
MONDO:0018032	obsolete constitutional neutropenia with extra-hematopoietic manifestations	oboInOwl:hasDbXref	Orphanet:331184	Syndrome with congenital neutropenia as a major feature	semapv:ManualMappingCuration
MONDO:0018033	obsolete other immunodeficiency syndromes due to defects in innate immunity	oboInOwl:hasDbXref	Orphanet:331193	Other immunodeficiency syndromes due to defects in innate immunity	semapv:ManualMappingCuration
MONDO:0018034	thalidomide embryopathy	oboInOwl:hasDbXref	Orphanet:3312	Thalidomide embryopathy	semapv:ManualMappingCuration
MONDO:0018035	obsolete syndrome with combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:331217	Syndrome with combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0018036	obsolete immunodeficiency due to absence of thymus	oboInOwl:hasDbXref	Orphanet:331220	Syndome with combined immunodeficiency due to thymic defect	semapv:ManualMappingCuration
MONDO:0018037	hyper-IgE syndrome	oboInOwl:hasDbXref	Orphanet:331223	Hyper-IgE syndrome	semapv:ManualMappingCuration
MONDO:0018038	obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	oboInOwl:hasDbXref	Orphanet:331232	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	semapv:ManualMappingCuration
MONDO:0018039	selective IgM deficiency	oboInOwl:hasDbXref	Orphanet:331235	Selective IgM deficiency	semapv:ManualMappingCuration
MONDO:0018040	obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	oboInOwl:hasDbXref	Orphanet:331240	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	semapv:ManualMappingCuration
MONDO:0018041	obsolete other immunodeficiency syndrome with predominantly antibody defects	oboInOwl:hasDbXref	Orphanet:331244	Other immunodeficiency syndrome with predominantly antibody defects	semapv:ManualMappingCuration
MONDO:0018042	obsolete immunodeficiency syndrome with abnormal pigmentation	oboInOwl:hasDbXref	Orphanet:331249	Primary hemophagocytic lymphohistiocytosis with hypopigmentation	semapv:ManualMappingCuration
MONDO:0018043	Thomas syndrome	oboInOwl:hasDbXref	Orphanet:3316	Thomas syndrome	semapv:ManualMappingCuration
MONDO:0018044	idiopathic hypersomnia	oboInOwl:hasDbXref	Orphanet:33208	Idiopathic hypersomnia	semapv:ManualMappingCuration
MONDO:0018045	Hoyeraal-Hreidarsson syndrome	oboInOwl:hasDbXref	Orphanet:3322	Hoyeraal-Hreidarsson syndrome	semapv:ManualMappingCuration
MONDO:0018046	thrombocytopenia-Robin sequence syndrome	oboInOwl:hasDbXref	Orphanet:3323	Braddock-Carey syndrome	semapv:ManualMappingCuration
MONDO:0018047	familial thrombomodulin anomalies	oboInOwl:hasDbXref	Orphanet:3324	Familial thrombomodulin anomalies	semapv:ManualMappingCuration
MONDO:0018048	heparin-induced thrombocytopenia	oboInOwl:hasDbXref	Orphanet:3325	Heparin-induced thrombocytopenia	semapv:ManualMappingCuration
MONDO:0018050	tibial aplasia-ectrodactyly syndrome	oboInOwl:hasDbXref	Orphanet:3329	Tibial aplasia-ectrodactyly syndrome	semapv:ManualMappingCuration
MONDO:0018051	Jessner lymphocytic infiltration of the skin	oboInOwl:hasDbXref	Orphanet:33314	Jessner lymphocytic infiltration of the skin	semapv:ManualMappingCuration
MONDO:0018053	trichothiodystrophy	oboInOwl:hasDbXref	Orphanet:33364	Trichothiodystrophy	semapv:ManualMappingCuration
MONDO:0018054	familial atrial fibrillation	oboInOwl:hasDbXref	Orphanet:334	Familial atrial fibrillation	semapv:ManualMappingCuration
MONDO:0018055	pediatric hepatocellular carcinoma	oboInOwl:hasDbXref	Orphanet:33402	Pediatric hepatocellular carcinoma	semapv:ManualMappingCuration
MONDO:0018056	bullous lichen planus	oboInOwl:hasDbXref	Orphanet:33408	Bullous lichen planus	semapv:ManualMappingCuration
MONDO:0018058	tracheal agenesis	oboInOwl:hasDbXref	Orphanet:3346	Tracheal agenesis	semapv:ManualMappingCuration
MONDO:0018059	meningococcal meningitis	oboInOwl:hasDbXref	Orphanet:33475	Meningococcal meningitis	semapv:ManualMappingCuration
MONDO:0018060	congenital fibrinogen deficiency	oboInOwl:hasDbXref	Orphanet:335	Congenital fibrinogen deficiency	semapv:ManualMappingCuration
MONDO:0018061	trichodermodysplasia-dental alterations syndrome	oboInOwl:hasDbXref	Orphanet:3353	Trichodermodysplasia-dental alterations syndrome	semapv:ManualMappingCuration
MONDO:0018062	autosomal dominant trichoodontoonychodysplasia-syndactyly	oboInOwl:hasDbXref	Orphanet:3357	OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly	semapv:ManualMappingCuration
MONDO:0018063	nodular non-suppurative panniculitis	oboInOwl:hasDbXref	Orphanet:33577	Nodular non-suppurative panniculitis	semapv:ManualMappingCuration
MONDO:0018064	trigonocephaly-broad thumbs syndrome	oboInOwl:hasDbXref	Orphanet:3365	Trigonocephaly-broad thumbs syndrome	semapv:ManualMappingCuration
MONDO:0018065	isolated trigonocephaly	oboInOwl:hasDbXref	Orphanet:3366	Non-syndromic metopic craniosynostosis	semapv:ManualMappingCuration
MONDO:0018066	trisomy X	oboInOwl:hasDbXref	Orphanet:3375	Trisomy X syndrome	semapv:ManualMappingCuration
MONDO:0018067	triploidy	oboInOwl:hasDbXref	Orphanet:3376	Triploidy syndrome	semapv:ManualMappingCuration
MONDO:0018068	trisomy 13	oboInOwl:hasDbXref	Orphanet:3378	Trisomy 13 syndrome	semapv:ManualMappingCuration
MONDO:0018069	distal trisomy 17q	oboInOwl:hasDbXref	Orphanet:3379	Distal duplication 17q syndrome	semapv:ManualMappingCuration
MONDO:0018070	familial multiple fibrofolliculoma	oboInOwl:hasDbXref	Orphanet:338	Familial multiple fibrofolliculoma	semapv:ManualMappingCuration
MONDO:0018071	trisomy 18	oboInOwl:hasDbXref	Orphanet:3380	Trisomy 18 syndrome	semapv:ManualMappingCuration
MONDO:0018072	persistent truncus arteriosus	oboInOwl:hasDbXref	Orphanet:3384	Common arterial trunk	semapv:ManualMappingCuration
MONDO:0018075	neural tube defect	oboInOwl:hasDbXref	Orphanet:3388	Neural tube defect	semapv:ManualMappingCuration
MONDO:0018076	tuberculosis	oboInOwl:hasDbXref	Orphanet:3389	Tuberculosis	semapv:ManualMappingCuration
MONDO:0018077	tularemia	oboInOwl:hasDbXref	Orphanet:3392	Tularemia	semapv:ManualMappingCuration
MONDO:0018078	soft tissue sarcoma	oboInOwl:hasDbXref	Orphanet:3394	Soft tissue sarcoma	semapv:ManualMappingCuration
MONDO:0018079	thymic epithelial neoplasm	oboInOwl:hasDbXref	Orphanet:3398	Thymic epithelial neoplasm	semapv:ManualMappingCuration
MONDO:0018080	obsolete rare germ cell tumor	oboInOwl:hasDbXref	Orphanet:3399	Germ cell tumor	semapv:ManualMappingCuration
MONDO:0018081	hemorrhagic fever-renal syndrome	oboInOwl:hasDbXref	Orphanet:340	Hemorrhagic fever-renal syndrome	semapv:ManualMappingCuration
MONDO:0018082	aorto-ventricular tunnel	oboInOwl:hasDbXref	Orphanet:3400	Aorto-ventricular tunnel	semapv:ManualMappingCuration
MONDO:0018083	transient tyrosinemia of the newborn	oboInOwl:hasDbXref	Orphanet:3402	Transient tyrosinemia of the newborn	semapv:ManualMappingCuration
MONDO:0018084	Uhl anomaly	oboInOwl:hasDbXref	Orphanet:3403	Uhl anomaly	semapv:ManualMappingCuration
MONDO:0018085	umbilical cord ulceration-intestinal atresia syndrome	oboInOwl:hasDbXref	Orphanet:3405	Umbilical cord ulceration-intestinal atresia syndrome	semapv:ManualMappingCuration
MONDO:0018086	ulerythema ophryogenesis	oboInOwl:hasDbXref	Orphanet:3406	Ulerythema ophryogenesis	semapv:ManualMappingCuration
MONDO:0018087	viral hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:341	Viral hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0018088	familial Mediterranean fever	oboInOwl:hasDbXref	Orphanet:342	Familial Mediterranean fever	semapv:ManualMappingCuration
MONDO:0018089	double outlet right ventricle	oboInOwl:hasDbXref	Orphanet:3426	Double outlet right ventricle	semapv:ManualMappingCuration
MONDO:0018090	double outlet left ventricle	oboInOwl:hasDbXref	Orphanet:3427	Double outlet left ventricle	semapv:ManualMappingCuration
MONDO:0018091	microcephaly-brachydactyly-kyphoscoliosis syndrome	oboInOwl:hasDbXref	Orphanet:3433	Microcephaly-brachydactyly-kyphoscoliosis syndrome	semapv:ManualMappingCuration
MONDO:0018092	Vogt-Koyanagi-Harada disease	oboInOwl:hasDbXref	Orphanet:3437	Vogt-Koyanagi-Harada disease	semapv:ManualMappingCuration
MONDO:0018093	arbovirus fever	oboInOwl:hasDbXref	Orphanet:344	OBSOLETE: Arbovirus fever	semapv:ManualMappingCuration
MONDO:0018094	Waardenburg syndrome	oboInOwl:hasDbXref	Orphanet:3440	Waardenburg syndrome	semapv:ManualMappingCuration
MONDO:0018095	Weaver-Williams syndrome	oboInOwl:hasDbXref	Orphanet:3448	Weaver-Williams syndrome	semapv:ManualMappingCuration
MONDO:0018096	Weill-Marchesani syndrome	oboInOwl:hasDbXref	Orphanet:3449	Weill-Marchesani syndrome	semapv:ManualMappingCuration
MONDO:0018097	infantile spasms	oboInOwl:hasDbXref	Orphanet:3451	Infantile epileptic spasms syndrome	semapv:ManualMappingCuration
MONDO:0018098	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	oboInOwl:hasDbXref	Orphanet:34517	Autosomal dominant limb-girdle muscular dystrophy type 1E	semapv:ManualMappingCuration
MONDO:0018100	familial primary hypomagnesemia	oboInOwl:hasDbXref	Orphanet:34526	OBSOLETE: Genetic primary hypomagnesemia	semapv:ManualMappingCuration
MONDO:0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia	oboInOwl:hasDbXref	Orphanet:34527	OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia	semapv:ManualMappingCuration
MONDO:0018102	corneal dystrophy	oboInOwl:hasDbXref	Orphanet:34533	Corneal dystrophy	semapv:ManualMappingCuration
MONDO:0018103	Quinquaud's folliculitis decalvans	oboInOwl:hasDbXref	Orphanet:346	Quinquaud folliculitis decalvans	semapv:ManualMappingCuration
MONDO:0018104	obsolete Torg-Winchester syndrome	oboInOwl:hasDbXref	Orphanet:3460	Torg-Winchester syndrome	semapv:ManualMappingCuration
MONDO:0018105	Wolfram syndrome	oboInOwl:hasDbXref	Orphanet:3463	Wolfram syndrome	semapv:ManualMappingCuration
MONDO:0018106	hereditary xanthinuria	oboInOwl:hasDbXref	Orphanet:3467	Hereditary xanthinuria	semapv:ManualMappingCuration
MONDO:0018107	obsolete idiopathic recurrent and disabling cutaneous herpes	oboInOwl:hasDbXref	Orphanet:35061	OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes	semapv:ManualMappingCuration
MONDO:0018108	idiopathic disseminated cytomegalovirus infection	oboInOwl:hasDbXref	Orphanet:35062	Severe disseminated cytomegalovirus infection in immunocompetent patients	semapv:ManualMappingCuration
MONDO:0018109	fulminant viral hepatitis	oboInOwl:hasDbXref	Orphanet:35063	Fulminant viral hepatitis	semapv:ManualMappingCuration
MONDO:0018110	obsolete lethal idiopathic viral infection	oboInOwl:hasDbXref	Orphanet:35064	OBSOLETE: Lethal idiopathic viral infection	semapv:ManualMappingCuration
MONDO:0018111	idiopathic severe pneumococcemia	oboInOwl:hasDbXref	Orphanet:35065	OBSOLETE: Idiopathic severe pneumococcemia	semapv:ManualMappingCuration
MONDO:0018112	obsolete isolated scaphocephaly	oboInOwl:hasDbXref	Orphanet:35093	Non-syndromic sagittal craniosynostosis	semapv:ManualMappingCuration
MONDO:0018113	obsolete isolated plagiocephaly	oboInOwl:hasDbXref	Orphanet:35098	OBSOLETE: Isolated plagiocephaly	semapv:ManualMappingCuration
MONDO:0018114	obsolete isolated brachycephaly	oboInOwl:hasDbXref	Orphanet:35099	Non-syndromic bicoronal craniosynostosis	semapv:ManualMappingCuration
MONDO:0018115	epidermal nevus syndrome	oboInOwl:hasDbXref	Orphanet:35125	Epidermal nevus syndrome	semapv:ManualMappingCuration
MONDO:0018116	galactosemia	oboInOwl:hasDbXref	Orphanet:352	Galactosemia	semapv:ManualMappingCuration
MONDO:0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis	oboInOwl:hasDbXref	Orphanet:352301	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	semapv:ManualMappingCuration
MONDO:0018118	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	oboInOwl:hasDbXref	Orphanet:352306	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	semapv:ManualMappingCuration
MONDO:0018119	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	oboInOwl:hasDbXref	Orphanet:352309	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	semapv:ManualMappingCuration
MONDO:0018120	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	oboInOwl:hasDbXref	Orphanet:352312	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	semapv:ManualMappingCuration
MONDO:0018121	mitochondrial DNA maintenance syndrome	oboInOwl:hasDbXref	Orphanet:352456	Mitochondrial DNA maintenance syndrome	semapv:ManualMappingCuration
MONDO:0018122	digital anomalies-intellectual disability-short stature syndrome	oboInOwl:hasDbXref	Orphanet:352487	Digital anomalies-intellectual disability-short stature syndrome	semapv:ManualMappingCuration
MONDO:0018123	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0018124	Oncogenic osteomalacia	oboInOwl:hasDbXref	Orphanet:352540	Oncogenic osteomalacia	semapv:ManualMappingCuration
MONDO:0018125	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	oboInOwl:hasDbXref	Orphanet:352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	semapv:ManualMappingCuration
MONDO:0018126	progressive myoclonic epilepsy with dystonia	oboInOwl:hasDbXref	Orphanet:352596	Progressive myoclonic epilepsy with dystonia	semapv:ManualMappingCuration
MONDO:0018127	16q24.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:352629	16q24.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018128	phalangeal microgeodic syndrome	oboInOwl:hasDbXref	Orphanet:352636	Phalangeal microgeodic syndrome	semapv:ManualMappingCuration
MONDO:0018129	autosomal recessive cerebellar ataxia with late-onset spasticity	oboInOwl:hasDbXref	Orphanet:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	semapv:ManualMappingCuration
MONDO:0018130	brain dopamine-serotonin vesicular transport disease	oboInOwl:hasDbXref	Orphanet:352649	Brain dopamine-serotonin vesicular transport disease	semapv:ManualMappingCuration
MONDO:0018131	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion	oboInOwl:hasDbXref	Orphanet:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	semapv:ManualMappingCuration
MONDO:0018132	obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	oboInOwl:hasDbXref	Orphanet:352687	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	semapv:ManualMappingCuration
MONDO:0018133	attenuated Chédiak-Higashi syndrome	oboInOwl:hasDbXref	Orphanet:352723	Attenuated Chédiak-Higashi syndrome	semapv:ManualMappingCuration
MONDO:0018134	disorder of melanin metabolism	oboInOwl:hasDbXref	Orphanet:352728	Disorder of melanin metabolism	semapv:ManualMappingCuration
MONDO:0018135	oculocutaneous albinism type 1	oboInOwl:hasDbXref	Orphanet:352731	Oculocutaneous albinism type 1	semapv:ManualMappingCuration
MONDO:0018136	minimal pigment oculocutaneous albinism type 1	oboInOwl:hasDbXref	Orphanet:352734	Minimal pigment oculocutaneous albinism type 1	semapv:ManualMappingCuration
MONDO:0018137	temperature-sensitive oculocutaneous albinism type 1	oboInOwl:hasDbXref	Orphanet:352737	Temperature-sensitive oculocutaneous albinism type 1	semapv:ManualMappingCuration
MONDO:0018138	obsolete ocular albinism with congenital sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:352740	Ocular albinism with congenital sensorineural deafness	semapv:ManualMappingCuration
MONDO:0018141	pyruvate carboxylase deficiency, infantile form	oboInOwl:hasDbXref	Orphanet:353308	Pyruvate carboxylase deficiency, infantile type	semapv:ManualMappingCuration
MONDO:0018142	pyruvate carboxylase deficiency, severe neonatal type	oboInOwl:hasDbXref	Orphanet:353314	Pyruvate carboxylase deficiency, severe neonatal type	semapv:ManualMappingCuration
MONDO:0018143	pyruvate carboxylase deficiency, benign type	oboInOwl:hasDbXref	Orphanet:353320	Pyruvate carboxylase deficiency, benign type	semapv:ManualMappingCuration
MONDO:0018144	obsolete congenital myasthenic syndromes with glycosylation defect	oboInOwl:hasDbXref	Orphanet:353327	Congenital myasthenic syndromes with glycosylation defect	semapv:ManualMappingCuration
MONDO:0018145	congenital retinal arteriovenous communication	oboInOwl:hasDbXref	Orphanet:353334	Congenital retinal arteriovenous communication	semapv:ManualMappingCuration
MONDO:0018146	idiopathic macular telangiectasia type 1	oboInOwl:hasDbXref	Orphanet:353344	Idiopathic macular telangiectasia type 1	semapv:ManualMappingCuration
MONDO:0018147	idiopathic macular telangiectasia type 3	oboInOwl:hasDbXref	Orphanet:353351	Idiopathic macular telangiectasia type 3	semapv:ManualMappingCuration
MONDO:0018148	vasoproliferative tumor of retina	oboInOwl:hasDbXref	Orphanet:353356	Vasoproliferative tumor of the retina	semapv:ManualMappingCuration
MONDO:0018149	GM1 gangliosidosis	oboInOwl:hasDbXref	Orphanet:354	GM1 gangliosidosis	semapv:ManualMappingCuration
MONDO:0018150	Gaucher disease	oboInOwl:hasDbXref	Orphanet:355	Gaucher disease	semapv:ManualMappingCuration
MONDO:0018151	coenzyme Q10 deficiency	oboInOwl:hasDbXref	Orphanet:35656	Coenzyme Q10 deficiency	semapv:ManualMappingCuration
MONDO:0018152	serpiginous choroiditis	oboInOwl:hasDbXref	Orphanet:35686	Serpiginous choroiditis	semapv:ManualMappingCuration
MONDO:0018153	Erdheim-Chester disease	oboInOwl:hasDbXref	Orphanet:35687	Erdheim-Chester disease	semapv:ManualMappingCuration
MONDO:0018154	Madelung deformity	oboInOwl:hasDbXref	Orphanet:35688	OBSOLETE: Madelung deformity	semapv:ManualMappingCuration
MONDO:0018155	lateral sclerosis	oboInOwl:hasDbXref	Orphanet:35689	Primary lateral sclerosis	semapv:ManualMappingCuration
MONDO:0018156	3q26q27 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:356947	3q26q27 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018157	obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis	oboInOwl:hasDbXref	Orphanet:35696	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	semapv:ManualMappingCuration
MONDO:0018158	mitochondrial DNA depletion syndrome	oboInOwl:hasDbXref	Orphanet:35698	Mitochondrial DNA depletion syndrome	semapv:ManualMappingCuration
MONDO:0018159	atypical hemolytic-uremic syndrome with DGKE deficiency	oboInOwl:hasDbXref	Orphanet:357008	Hemolytic uremic syndrome with DGKE deficiency	semapv:ManualMappingCuration
MONDO:0018160	hereditary retinoblastoma	oboInOwl:hasDbXref	Orphanet:357027	Hereditary retinoblastoma	semapv:ManualMappingCuration
MONDO:0018161	non-hereditary retinoblastoma	oboInOwl:hasDbXref	Orphanet:357034	Non-hereditary retinoblastoma	semapv:ManualMappingCuration
MONDO:0018162	neurometabolic disorder due to serine deficiency	oboInOwl:hasDbXref	Orphanet:35705	Neurometabolic disorder due to serine deficiency	semapv:ManualMappingCuration
MONDO:0018163	autosomal recessive cutis laxa type 2A	oboInOwl:hasDbXref	Orphanet:357058	Autosomal recessive cutis laxa type 2A	semapv:ManualMappingCuration
MONDO:0018164	arterial thoracic outlet syndrome	oboInOwl:hasDbXref	Orphanet:357107	Arterial thoracic outlet syndrome	semapv:ManualMappingCuration
MONDO:0018165	venous thoracic outlet syndrome	oboInOwl:hasDbXref	Orphanet:357131	Venous thoracic outlet syndrome	semapv:ManualMappingCuration
MONDO:0018166	oral submucous fibrosis	oboInOwl:hasDbXref	Orphanet:357154	Oral submucous fibrosis	semapv:ManualMappingCuration
MONDO:0018167	primary essential cutis verticis gyrata	oboInOwl:hasDbXref	Orphanet:357220	Primary essential cutis verticis gyrata	semapv:ManualMappingCuration
MONDO:0018168	primary non-essential cutis verticis gyrata	oboInOwl:hasDbXref	Orphanet:357225	Primary non-essential cutis verticis gyrata	semapv:ManualMappingCuration
MONDO:0018169	morning glory syndrome	oboInOwl:hasDbXref	Orphanet:35737	Morning glory disc anomaly	semapv:ManualMappingCuration
MONDO:0018170	idiopathic nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:357502	Idiopathic nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0018171	malignant germ cell tumor of ovary	oboInOwl:hasDbXref	Orphanet:35807	Malignant germ cell tumor of ovary	semapv:ManualMappingCuration
MONDO:0018172	malignant sex cord stromal tumor of ovary	oboInOwl:hasDbXref	Orphanet:35808	Malignant sex cord stromal tumor of ovary	semapv:ManualMappingCuration
MONDO:0018173	acute opioid poisoning	oboInOwl:hasDbXref	Orphanet:35889	Acute opioid intoxication	semapv:ManualMappingCuration
MONDO:0018174	hereditary glaucoma	oboInOwl:hasDbXref	Orphanet:359	Pediatric-onset glaucoma of genetic origin	semapv:ManualMappingCuration
MONDO:0018175	combined deficiency of factor V and factor VIII	oboInOwl:hasDbXref	Orphanet:35909	Combined deficiency of factor V and factor VIII	semapv:ManualMappingCuration
MONDO:0018177	glioblastoma	oboInOwl:hasDbXref	Orphanet:360	Glioblastoma	semapv:ManualMappingCuration
MONDO:0018178	intestinal lymphangiectasia	oboInOwl:hasDbXref	Orphanet:36204	Intestinal lymphangiectasia	semapv:ManualMappingCuration
MONDO:0018180	staphylococcal scarlet fever	oboInOwl:hasDbXref	Orphanet:36235	Staphylococcal scarlet fever	semapv:ManualMappingCuration
MONDO:0018181	staphylococcal scalded skin syndrome	oboInOwl:hasDbXref	Orphanet:36236	Staphylococcal scalded skin syndrome	semapv:ManualMappingCuration
MONDO:0018182	bullous impetigo	oboInOwl:hasDbXref	Orphanet:36237	Bullous impetigo	semapv:ManualMappingCuration
MONDO:0018183	staphylococcal necrotizing pneumonia	oboInOwl:hasDbXref	Orphanet:36238	Staphylococcal necrotizing pneumonia	semapv:ManualMappingCuration
MONDO:0018184	gastric linitis plastica	oboInOwl:hasDbXref	Orphanet:36273	Gastric linitis plastica	semapv:ManualMappingCuration
MONDO:0018185	obsolete congenital anomaly of the great veins	oboInOwl:hasDbXref	Orphanet:363189	Congenital anomaly of the great veins	semapv:ManualMappingCuration
MONDO:0018186	obsolete ring chromosome	oboInOwl:hasDbXref	Orphanet:363203	Ring chromosome syndrome	semapv:ManualMappingCuration
MONDO:0018187	obsolete hereditary syndromic Pierre Robin syndrome	oboInOwl:hasDbXref	Orphanet:363294	Genetic syndromic Pierre Robin syndrome	semapv:ManualMappingCuration
MONDO:0018188	obsolete hereditary intestinal polyposis	oboInOwl:hasDbXref	Orphanet:363314	Genetic intestinal polyposis	semapv:ManualMappingCuration
MONDO:0018189	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	oboInOwl:hasDbXref	Orphanet:363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	semapv:ManualMappingCuration
MONDO:0018190	autosomal dominant childhood-onset proximal spinal muscular atrophy	oboInOwl:hasDbXref	Orphanet:363447	Autosomal dominant childhood-onset proximal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0018191	obsolete tumor of testis and paratestis	oboInOwl:hasDbXref	Orphanet:363472	Tumor of testis and paratestis	semapv:ManualMappingCuration
MONDO:0018192	paratesticular adenocarcinoma	oboInOwl:hasDbXref	Orphanet:363478	Paratesticular adenocarcinoma	semapv:ManualMappingCuration
MONDO:0018193	testicular teratoma	oboInOwl:hasDbXref	Orphanet:363483	Testicular teratoma	semapv:ManualMappingCuration
MONDO:0018197	mitochondrial DNA depletion syndrome, hepatocerebrorenal form	oboInOwl:hasDbXref	Orphanet:363534	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	semapv:ManualMappingCuration
MONDO:0018198	acute encephalopathy with biphasic seizures and late reduced diffusion	oboInOwl:hasDbXref	Orphanet:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	semapv:ManualMappingCuration
MONDO:0018199	new-onset refractory status epilepticus	oboInOwl:hasDbXref	Orphanet:363558	New-onset refractory status epilepticus	semapv:ManualMappingCuration
MONDO:0018200	obsolete acute encephalopathy with inflammation-mediated status epilepticus	oboInOwl:hasDbXref	Orphanet:363567	Acute encephalopathy with inflammation-mediated status epilepticus	semapv:ManualMappingCuration
MONDO:0018201	extragonadal germ cell tumor	oboInOwl:hasDbXref	Orphanet:363579	Extragonadal germ cell tumor	semapv:ManualMappingCuration
MONDO:0018202	gonadal germ cell tumor	oboInOwl:hasDbXref	Orphanet:363582	Gonadal germ cell tumor	semapv:ManualMappingCuration
MONDO:0018203	LMNA-related cardiocutaneous progeria syndrome	oboInOwl:hasDbXref	Orphanet:363618	LMNA-related cardiocutaneous progeria syndrome	semapv:ManualMappingCuration
MONDO:0018204	20q11.2 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:363659	20q11.2 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0018205	distal monosomy 1q	oboInOwl:hasDbXref	Orphanet:36367	Distal deletion 1q syndrome	semapv:ManualMappingCuration
MONDO:0018206	childhood-onset autosomal recessive myopathy with external ophthalmoplegia	oboInOwl:hasDbXref	Orphanet:363677	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	semapv:ManualMappingCuration
MONDO:0018207	2p13.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:363680	2p13.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018208	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	oboInOwl:hasDbXref	Orphanet:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	semapv:ManualMappingCuration
MONDO:0018209	Alexander disease type I	oboInOwl:hasDbXref	Orphanet:363717	Alexander disease type I	semapv:ManualMappingCuration
MONDO:0018210	Alexander disease type II	oboInOwl:hasDbXref	Orphanet:363722	Alexander disease type II	semapv:ManualMappingCuration
MONDO:0018211	Balint syndrome	oboInOwl:hasDbXref	Orphanet:363746	Balint syndrome	semapv:ManualMappingCuration
MONDO:0018212	familial cervical artery dissection	oboInOwl:hasDbXref	Orphanet:36382	OBSOLETE : Familial cervical artery dissection	semapv:ManualMappingCuration
MONDO:0018213	hereditary sensory and autonomic neuropathy type 1	oboInOwl:hasDbXref	Orphanet:36386	Hereditary sensory and autonomic neuropathy type 1	semapv:ManualMappingCuration
MONDO:0018214	generalized epilepsy with febrile seizures plus	oboInOwl:hasDbXref	Orphanet:36387	Genetic epilepsy with febrile seizure plus	semapv:ManualMappingCuration
MONDO:0018215	paraneoplastic neurologic syndrome	oboInOwl:hasDbXref	Orphanet:36388	Paraneoplastic neurologic syndrome	semapv:ManualMappingCuration
MONDO:0018216	Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:363958	17q21.31 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018217	Koolen-de Vries syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:363965	Koolen-De Vries syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0018218	autosomal recessive cerebral atrophy	oboInOwl:hasDbXref	Orphanet:363969	Autosomal recessive cerebral atrophy	semapv:ManualMappingCuration
MONDO:0018221	immune hydrops fetalis	oboInOwl:hasDbXref	Orphanet:364013	Immune hydrops fetalis	semapv:ManualMappingCuration
MONDO:0018222	obsolete X-linked intellectual disability due to GRIA3 anomalies	oboInOwl:hasDbXref	Orphanet:364028	X-linked intellectual disability due to GRIA3 mutations	semapv:ManualMappingCuration
MONDO:0018223	systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	oboInOwl:hasDbXref	Orphanet:364033	Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	semapv:ManualMappingCuration
MONDO:0018224	hydroa vacciniforme-like lymphoma	oboInOwl:hasDbXref	Orphanet:364039	Hydroa vacciniforme-like lymphoma	semapv:ManualMappingCuration
MONDO:0018225	ALK-positive large B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:364043	ALK-positive large B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0018226	infantile epileptic-dyskinetic encephalopathy	oboInOwl:hasDbXref	Orphanet:364063	Infantile epileptic-dyskinetic encephalopathy	semapv:ManualMappingCuration
MONDO:0018227	hypocomplementemic urticarial vasculitis	oboInOwl:hasDbXref	Orphanet:36412	Hypocomplementemic urticarial vasculitis	semapv:ManualMappingCuration
MONDO:0018228	bipartite talus	oboInOwl:hasDbXref	Orphanet:364198	Bipartite talus	semapv:ManualMappingCuration
MONDO:0018229	Stevens-Johnson syndrome	oboInOwl:hasDbXref	Orphanet:36426	Stevens-Johnson syndrome	semapv:ManualMappingCuration
MONDO:0018230	skeletal dysplasia	oboInOwl:hasDbXref	Orphanet:364526	Primary bone dysplasia	semapv:ManualMappingCuration
MONDO:0018231	obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	oboInOwl:hasDbXref	Orphanet:364531	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	semapv:ManualMappingCuration
MONDO:0018232	obsolete primary bone dysplasia with micromelia	oboInOwl:hasDbXref	Orphanet:364536	Primary bone dysplasia with micromelia	semapv:ManualMappingCuration
MONDO:0018233	otopalatodigital syndrome spectrum disorder	oboInOwl:hasDbXref	Orphanet:364541	Otopalatodigital syndrome spectrum disorder	semapv:ManualMappingCuration
MONDO:0018234	dysostosis	oboInOwl:hasDbXref	Orphanet:364559	Dysostosis	semapv:ManualMappingCuration
MONDO:0018235	obsolete dysostosis with limb anomaly as a major feature	oboInOwl:hasDbXref	Orphanet:364568	Dysostosis with limb anomaly as a major feature	semapv:ManualMappingCuration
MONDO:0018236	obsolete dysostosis with limb and face anomalies as a major feature	oboInOwl:hasDbXref	Orphanet:364571	Dysostosis with limb and face anomalies as a major feature	semapv:ManualMappingCuration
MONDO:0018237	acrofacial dysostosis	oboInOwl:hasDbXref	Orphanet:364574	Acrofacial dysostosis	semapv:ManualMappingCuration
MONDO:0018239	obsolete aggrecan-related bone disorder	oboInOwl:hasDbXref	Orphanet:364817	OBSOLETE: Aggrecan-related bone disorder	semapv:ManualMappingCuration
MONDO:0018240	TRPV4-related bone disorder	oboInOwl:hasDbXref	Orphanet:364820	TRPV4-related bone disorder	semapv:ManualMappingCuration
MONDO:0018241	obsolete primary short bowel syndrome	oboInOwl:hasDbXref	Orphanet:365563	Primary short bowel syndrome	semapv:ManualMappingCuration
MONDO:0018242	autoimmune hypoparathyroidism	oboInOwl:hasDbXref	Orphanet:36913	Autoimmune hypoparathyroidism	semapv:ManualMappingCuration
MONDO:0018243	intellectual disability-hyperkinetic movement-truncal ataxia syndrome	oboInOwl:hasDbXref	Orphanet:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	semapv:ManualMappingCuration
MONDO:0018244	obesity due to SIM1 deficiency	oboInOwl:hasDbXref	Orphanet:369873	Obesity due to SIM1 deficiency	semapv:ManualMappingCuration
MONDO:0018245	2p21 microdeletion syndrome without cystinuria	oboInOwl:hasDbXref	Orphanet:369881	2p21 microdeletion syndrome without cystinuria	semapv:ManualMappingCuration
MONDO:0018246	obsolete homozygous 2p21 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:369886	Homozygous 2p21 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018247	CADDS	oboInOwl:hasDbXref	Orphanet:369942	CADDS	semapv:ManualMappingCuration
MONDO:0018248	intellectual disability-seizures-macrocephaly-obesity syndrome	oboInOwl:hasDbXref	Orphanet:369950	Intellectual disability-seizures-macrocephaly-obesity syndrome	semapv:ManualMappingCuration
MONDO:0018249	finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome	oboInOwl:hasDbXref	Orphanet:369979	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome	semapv:ManualMappingCuration
MONDO:0018250	diffuse palmoplantar keratoderma with painful fissures	oboInOwl:hasDbXref	Orphanet:369999	Diffuse palmoplantar keratoderma with painful fissures	semapv:ManualMappingCuration
MONDO:0018252	focal palmoplantar keratoderma with joint keratoses	oboInOwl:hasDbXref	Orphanet:370002	Focal palmoplantar keratoderma with joint keratoses	semapv:ManualMappingCuration
MONDO:0018253	intellectual disability-facial dysmorphism-hand anomalies syndrome	oboInOwl:hasDbXref	Orphanet:370010	Intellectual disability-facial dysmorphism-hand anomalies syndrome	semapv:ManualMappingCuration
MONDO:0018254	spondyloepimetaphyseal dysplasia, Isidor type	oboInOwl:hasDbXref	Orphanet:370015	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	semapv:ManualMappingCuration
MONDO:0018255	spondylometaphyseal dysplasia, Czarny-Ratajczak type	oboInOwl:hasDbXref	Orphanet:370019	Spondylometaphyseal dysplasia, Czarny-Ratajczak type	semapv:ManualMappingCuration
MONDO:0018256	acute myeloid leukemia with t(8;16)(p11;p13) translocation	oboInOwl:hasDbXref	Orphanet:370026	Acute myeloid leukemia with t(8;16)(p11;p13) translocation	semapv:ManualMappingCuration
MONDO:0018257	familial syringomyelia	oboInOwl:hasDbXref	Orphanet:370034	Familial syringomyelia	semapv:ManualMappingCuration
MONDO:0018258	Angora hair nevus	oboInOwl:hasDbXref	Orphanet:370039	Angora hair nevus	semapv:ManualMappingCuration
MONDO:0018259	didymosis aplasticosebacea	oboInOwl:hasDbXref	Orphanet:370046	Didymosis aplasticosebacea	semapv:ManualMappingCuration
MONDO:0018260	scalp syndrome	oboInOwl:hasDbXref	Orphanet:370052	SCALP syndrome	semapv:ManualMappingCuration
MONDO:0018261	Nevada syndrome	oboInOwl:hasDbXref	Orphanet:370059	NEVADA syndrome	semapv:ManualMappingCuration
MONDO:0018262	obsolete fetal anticonvulsant syndrome	oboInOwl:hasDbXref	Orphanet:370068	Fetal anticonvulsant syndrome	semapv:ManualMappingCuration
MONDO:0018263	fetal carbamazepine syndrome	oboInOwl:hasDbXref	Orphanet:370076	Fetal carbamazepine syndrome	semapv:ManualMappingCuration
MONDO:0018264	oculocutaneous albinism type 6	oboInOwl:hasDbXref	Orphanet:370097	Oculocutaneous albinism type 6	semapv:ManualMappingCuration
MONDO:0018265	obsolete rare disorder with dystonia and other neurologic or systemic manifestation	oboInOwl:hasDbXref	Orphanet:370106	Rare disorder with dystonia and other neurologic or systemic manifestation	semapv:ManualMappingCuration
MONDO:0018266	ataxia - telangiectasia variant	oboInOwl:hasDbXref	Orphanet:370109	Ataxia-telangiectasia variant	semapv:ManualMappingCuration
MONDO:0018267	combined cervical dystonia	oboInOwl:hasDbXref	Orphanet:370114	Combined cervical dystonia	semapv:ManualMappingCuration
MONDO:0018268	Medich giant platelet syndrome	oboInOwl:hasDbXref	Orphanet:370127	Medich giant platelet syndrome	semapv:ManualMappingCuration
MONDO:0018269	white platelet syndrome	oboInOwl:hasDbXref	Orphanet:370131	White platelet syndrome	semapv:ManualMappingCuration
MONDO:0018270	extraskeletal Ewing sarcoma	oboInOwl:hasDbXref	Orphanet:370334	Extraskeletal Ewing sarcoma	semapv:ManualMappingCuration
MONDO:0018271	peripheral primitive neuroectodermal tumor	oboInOwl:hasDbXref	Orphanet:370348	Peripheral primitive neuroectodermal tumor	semapv:ManualMappingCuration
MONDO:0018273	XYLT1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:370930	XYLT1-CDG	semapv:ManualMappingCuration
MONDO:0018274	GM3 synthase deficiency	oboInOwl:hasDbXref	Orphanet:171714	Amish infantile epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0018274	GM3 synthase deficiency	oboInOwl:hasDbXref	Orphanet:370933	GM3 synthase deficiency	semapv:ManualMappingCuration
MONDO:0018274	GM3 synthase deficiency	oboInOwl:hasDbXref	Orphanet:370938	Salt-and-pepper syndrome	semapv:ManualMappingCuration
MONDO:0018276	muscular dystrophy-dystroglycanopathy	oboInOwl:hasDbXref	Orphanet:370953	Congenital muscular dystrophy due to dystroglycanopathy	semapv:ManualMappingCuration
MONDO:0018277	obsolete congenital muscular dystrophy with cerebellar involvement	oboInOwl:hasDbXref	Orphanet:370959	Congenital muscular dystrophy with cerebellar involvement	semapv:ManualMappingCuration
MONDO:0018278	congenital muscular dystrophy with intellectual disability	oboInOwl:hasDbXref	Orphanet:370968	Congenital muscular dystrophy with intellectual disability	semapv:ManualMappingCuration
MONDO:0018280	muscle-eye-brain disease with bilateral multicystic leucodystrophy	oboInOwl:hasDbXref	Orphanet:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	semapv:ManualMappingCuration
MONDO:0018281	congenital muscular dystrophy with hyperlaxity	oboInOwl:hasDbXref	Orphanet:371007	Congenital muscular dystrophy with hyperlaxity	semapv:ManualMappingCuration
MONDO:0018282	qualitative or quantitative defects of alpha-dystroglycan	oboInOwl:hasDbXref	Orphanet:371024	Qualitative or quantitative defects of alpha-dystroglycan	semapv:ManualMappingCuration
MONDO:0018283	obsolete primary qualitative or quantitative defects of alpha-dystroglycan	oboInOwl:hasDbXref	Orphanet:371040	Primary qualitative or quantitative defects of alpha-dystroglycan	semapv:ManualMappingCuration
MONDO:0018284	obsolete congenital disorder of glycosylation with neurological involvement	oboInOwl:hasDbXref	Orphanet:371047	Congenital disorder of glycosylation with neurological involvement	semapv:ManualMappingCuration
MONDO:0018285	obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature	oboInOwl:hasDbXref	Orphanet:371054	OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature	semapv:ManualMappingCuration
MONDO:0018286	obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	oboInOwl:hasDbXref	Orphanet:371064	OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	semapv:ManualMappingCuration
MONDO:0018287	obsolete congenital disorder of glycosylation with epilepsy as a major feature	oboInOwl:hasDbXref	Orphanet:371071	Congenital disorder of glycosylation with epilepsy as a major feature	semapv:ManualMappingCuration
MONDO:0018288	obsolete congenital disorder of glycosylation with hepatic involvement	oboInOwl:hasDbXref	Orphanet:371157	Congenital disorder of glycosylation with hepatic involvement	semapv:ManualMappingCuration
MONDO:0018289	obsolete congenital disorder of glycosylation with dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:371176	Congenital disorder of glycosylation with dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0018290	obsolete congenital disorder of glycosylation with cardiac malformation as a major feature	oboInOwl:hasDbXref	Orphanet:371183	Congenital disorder of glycosylation with cardiac malformation as a major feature	semapv:ManualMappingCuration
MONDO:0018291	obsolete congenital disorder of glycosylation with intestinal involvement	oboInOwl:hasDbXref	Orphanet:371188	Congenital disorder of glycosylation with intestinal involvement	semapv:ManualMappingCuration
MONDO:0018292	obsolete congenital disorder of glycosylation-related bone disorder	oboInOwl:hasDbXref	Orphanet:371195	Congenital disorder of glycosylation-related bone disorder	semapv:ManualMappingCuration
MONDO:0018293	obsolete congenital disorder of glycosylation with skin involvement	oboInOwl:hasDbXref	Orphanet:371200	Congenital disorder of glycosylation with skin involvement	semapv:ManualMappingCuration
MONDO:0018294	obsolete congenital disorder of glycosylation with nephropathy as a major feature	oboInOwl:hasDbXref	Orphanet:371207	Congenital disorder of glycosylation with nephropathy as a major feature	semapv:ManualMappingCuration
MONDO:0018295	obsolete congenital disorder of glycosylation with deafness as a major feature	oboInOwl:hasDbXref	Orphanet:371212	Congenital disorder of glycosylation with deafness as a major feature	semapv:ManualMappingCuration
MONDO:0018296	obsolete congenital disorder of glycosylation with developmental anomaly	oboInOwl:hasDbXref	Orphanet:371235	Congenital disorder of glycosylation with developmental anomaly	semapv:ManualMappingCuration
MONDO:0018298	multicentric osteolysis-nodulosis-arthropathy spectrum	oboInOwl:hasDbXref	Orphanet:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	semapv:ManualMappingCuration
MONDO:0018299	obsolete sphingolipidosis with epilepsy	oboInOwl:hasDbXref	Orphanet:371442	Sphingolipidosis with epilepsy	semapv:ManualMappingCuration
MONDO:0018301	interstitial cystitis	oboInOwl:hasDbXref	Orphanet:37202	Interstitial cystitis	semapv:ManualMappingCuration
MONDO:0018302	acquired kinky hair syndrome	oboInOwl:hasDbXref	Orphanet:37559	Acquired kinky hair syndrome	semapv:ManualMappingCuration
MONDO:0018304	Schnitzler syndrome	oboInOwl:hasDbXref	Orphanet:37748	Schnitzler syndrome	semapv:ManualMappingCuration
MONDO:0018305	chronic granulomatous disease	oboInOwl:hasDbXref	Orphanet:379	Chronic granulomatous disease	semapv:ManualMappingCuration
MONDO:0018306	Griscelli syndrome	oboInOwl:hasDbXref	Orphanet:381	Griscelli syndrome	semapv:ManualMappingCuration
MONDO:0018307	neurodegeneration with brain iron accumulation	oboInOwl:hasDbXref	Orphanet:385	Neurodegeneration with brain iron accumulation	semapv:ManualMappingCuration
MONDO:0018308	liver mesenchymal hamartoma	oboInOwl:hasDbXref	Orphanet:386	Hepatic cystic hamartoma	semapv:ManualMappingCuration
MONDO:0018309	Hirschsprung disease	oboInOwl:hasDbXref	Orphanet:388	Hirschsprung disease	semapv:ManualMappingCuration
MONDO:0018310	Langerhans cell histiocytosis	oboInOwl:hasDbXref	Orphanet:389	Langerhans cell histiocytosis	semapv:ManualMappingCuration
MONDO:0018311	acromelanosis	oboInOwl:hasDbXref	Orphanet:39	Acromelanosis	semapv:ManualMappingCuration
MONDO:0018312	histoplasmosis	oboInOwl:hasDbXref	Orphanet:390	Histoplasmosis	semapv:ManualMappingCuration
MONDO:0018314	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	oboInOwl:hasDbXref	Orphanet:391316	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	semapv:ManualMappingCuration
MONDO:0018315	X-linked osteoporosis with fractures	oboInOwl:hasDbXref	Orphanet:391330	X-linked osteoporosis with fractures	semapv:ManualMappingCuration
MONDO:0018316	fatal post-viral neurodegenerative disorder	oboInOwl:hasDbXref	Orphanet:391343	Fatal post-viral neurodegenerative disorder	semapv:ManualMappingCuration
MONDO:0018317	growth retardation-mild developmental delay-chronic hepatitis syndrome	oboInOwl:hasDbXref	Orphanet:391366	Growth retardation-mild developmental delay-chronic hepatitis syndrome	semapv:ManualMappingCuration
MONDO:0018318	obsolete disorder of asparagine metabolism	oboInOwl:hasDbXref	Orphanet:391381	Disorder of asparagine metabolism	semapv:ManualMappingCuration
MONDO:0018319	familial episodic pain syndrome	oboInOwl:hasDbXref	Orphanet:391384	Familial episodic pain syndrome	semapv:ManualMappingCuration
MONDO:0018320	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	oboInOwl:hasDbXref	Orphanet:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	semapv:ManualMappingCuration
MONDO:0018321	atypical juvenile parkinsonism	oboInOwl:hasDbXref	Orphanet:391411	Atypical juvenile parkinsonism	semapv:ManualMappingCuration
MONDO:0018322	HSD10 disease, infantile type	oboInOwl:hasDbXref	Orphanet:391428	HSD10 disease, infantile type	semapv:ManualMappingCuration
MONDO:0018323	HSD10 disease, neonatal type	oboInOwl:hasDbXref	Orphanet:391457	HSD10 disease, neonatal type	semapv:ManualMappingCuration
MONDO:0018324	adult-onset myasthenia gravis	oboInOwl:hasDbXref	Orphanet:391490	Adult-onset myasthenia gravis	semapv:ManualMappingCuration
MONDO:0018325	juvenile myasthenia gravis	oboInOwl:hasDbXref	Orphanet:391497	Juvenile myasthenia gravis	semapv:ManualMappingCuration
MONDO:0018326	transient neonatal myasthenia gravis	oboInOwl:hasDbXref	Orphanet:391504	Transient neonatal myasthenia gravis	semapv:ManualMappingCuration
MONDO:0018327	glomus tumor	oboInOwl:hasDbXref	Orphanet:391651	Glomus tumor	semapv:ManualMappingCuration
MONDO:0018328	homozygous familial hypercholesterolemia	oboInOwl:hasDbXref	Orphanet:391665	Homozygous familial hypercholesterolemia	semapv:ManualMappingCuration
MONDO:0018329	obsolete persistent combined dystonia	oboInOwl:hasDbXref	Orphanet:391711	Persistent combined dystonia	semapv:ManualMappingCuration
MONDO:0018330	mucinous adenocarcinoma of the appendix	oboInOwl:hasDbXref	Orphanet:391723	Mucinous adenocarcinoma of the appendix	semapv:ManualMappingCuration
MONDO:0018332	multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	oboInOwl:hasDbXref	Orphanet:394529	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	semapv:ManualMappingCuration
MONDO:0018333	multiple acyl-CoA dehydrogenase deficiency, mild type	oboInOwl:hasDbXref	Orphanet:394532	Multiple acyl-CoA dehydrogenase deficiency, mild type	semapv:ManualMappingCuration
MONDO:0018334	chronic hiccup	oboInOwl:hasDbXref	Orphanet:396	Chronic hiccup	semapv:ManualMappingCuration
MONDO:0018336	obsolete Silver-Russell syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:397590	Silver-Russell syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0018338	activated PI3K-delta syndrome	oboInOwl:hasDbXref	Orphanet:397596	Activated PI3K-delta syndrome	semapv:ManualMappingCuration
MONDO:0018339	PrP systemic amyloidosis	oboInOwl:hasDbXref	Orphanet:397606	PrP systemic amyloidosis	semapv:ManualMappingCuration
MONDO:0018340	obsolete hereditary isolated aplastic anemia	oboInOwl:hasDbXref	Orphanet:397692	Hereditary isolated aplastic anemia	semapv:ManualMappingCuration
MONDO:0018341	3q27.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:397695	3q27.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	oboInOwl:hasDbXref	Orphanet:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	semapv:ManualMappingCuration
MONDO:0018343	periodic paralysis with later-onset distal motor neuropathy	oboInOwl:hasDbXref	Orphanet:397750	Periodic paralysis with later-onset distal motor neuropathy	semapv:ManualMappingCuration
MONDO:0018344	obsolete periodic paralysis with transient compartment-like syndrome	oboInOwl:hasDbXref	Orphanet:397755	Periodic paralysis with transient compartment-like syndrome	semapv:ManualMappingCuration
MONDO:0018346	ferro-cerebro-cutaneous syndrome	oboInOwl:hasDbXref	Orphanet:397922	Ferro-cerebro-cutaneous syndrome	semapv:ManualMappingCuration
MONDO:0018349	MAN1B1-congenital disorder of glycosylation	oboInOwl:hasDbXref	Orphanet:397941	MAN1B1-CDG	semapv:ManualMappingCuration
MONDO:0018352	squamous cell carcinoma of penis	oboInOwl:hasDbXref	Orphanet:398058	Squamous cell carcinoma of the penis	semapv:ManualMappingCuration
MONDO:0018353	refractory celiac disease	oboInOwl:hasDbXref	Orphanet:398063	Refractory celiac disease	semapv:ManualMappingCuration
MONDO:0018354	Prader-Willi-like syndrome	oboInOwl:hasDbXref	Orphanet:398073	Prader-Willi-like syndrome	semapv:ManualMappingCuration
MONDO:0018355	SIM1-related Prader-Willi-like syndrome	oboInOwl:hasDbXref	Orphanet:398079	SIM1-related Prader-Willi-like syndrome	semapv:ManualMappingCuration
MONDO:0018356	secondary neonatal autoimmune disease	oboInOwl:hasDbXref	Orphanet:398091	Secondary neonatal autoimmune disease	semapv:ManualMappingCuration
MONDO:0018357	neonatal antiphospholipid syndrome	oboInOwl:hasDbXref	Orphanet:398097	Neonatal antiphospholipid syndrome	semapv:ManualMappingCuration
MONDO:0018358	neonatal autoimmune hemolytic anemia	oboInOwl:hasDbXref	Orphanet:398109	Neonatal autoimmune hemolytic anemia	semapv:ManualMappingCuration
MONDO:0018359	neonatal dermatomyositis	oboInOwl:hasDbXref	Orphanet:398117	Neonatal dermatomyositis	semapv:ManualMappingCuration
MONDO:0018360	neonatal lupus erythematosus	oboInOwl:hasDbXref	Orphanet:398124	Neonatal lupus erythematosus	semapv:ManualMappingCuration
MONDO:0018361	neonatal scleroderma	oboInOwl:hasDbXref	Orphanet:398127	Neonatal scleroderma	semapv:ManualMappingCuration
MONDO:0018362	persistent idiopathic facial pain	oboInOwl:hasDbXref	Orphanet:398147	Persistent idiopathic facial pain	semapv:ManualMappingCuration
MONDO:0018363	focal facial dermal dysplasia	oboInOwl:hasDbXref	Orphanet:398166	Focal facial dermal dysplasia	semapv:ManualMappingCuration
MONDO:0018364	malignant epithelial tumor of ovary	oboInOwl:hasDbXref	Orphanet:398934	Malignant epithelial tumor of ovary	semapv:ManualMappingCuration
MONDO:0018365	malignant non-epithelial tumor of ovary	oboInOwl:hasDbXref	Orphanet:398940	Malignant non-epithelial tumor of ovary	semapv:ManualMappingCuration
MONDO:0018368	primary peritoneal serous/papillary carcinoma	oboInOwl:hasDbXref	Orphanet:398980	OBSOLETE: Primary peritoneal serous/papillary carcinoma	semapv:ManualMappingCuration
MONDO:0018369	immature ovarian teratoma	oboInOwl:hasDbXref	Orphanet:398987	Malignant teratoma of ovary	semapv:ManualMappingCuration
MONDO:0018370	KLHL9-related early-onset distal myopathy	oboInOwl:hasDbXref	Orphanet:399081	KLHL9-related early-onset distal myopathy	semapv:ManualMappingCuration
MONDO:0018371	nebulin-related early-onset distal myopathy	oboInOwl:hasDbXref	Orphanet:399103	Distal nebulin myopathy	semapv:ManualMappingCuration
MONDO:0018373	avascular necrosis	oboInOwl:hasDbXref	Orphanet:399164	Avascular necrosis	semapv:ManualMappingCuration
MONDO:0018374	secondary avascular necrosis	oboInOwl:hasDbXref	Orphanet:399169	Secondary avascular necrosis	semapv:ManualMappingCuration
MONDO:0018375	traumatic avascular necrosis	oboInOwl:hasDbXref	Orphanet:399175	Traumatic avascular necrosis	semapv:ManualMappingCuration
MONDO:0018376	secondary non-traumatic avascular necrosis	oboInOwl:hasDbXref	Orphanet:399180	Secondary non-traumatic avascular necrosis	semapv:ManualMappingCuration
MONDO:0018377	obsolete rare hereditary disease with avascular necrosis	oboInOwl:hasDbXref	Orphanet:399185	Rare hereditary disease with avascular necrosis	semapv:ManualMappingCuration
MONDO:0018378	osteonecrosis of the jaw	oboInOwl:hasDbXref	Orphanet:399293	Osteonecrosis of the jaw	semapv:ManualMappingCuration
MONDO:0018379	primary avascular necrosis	oboInOwl:hasDbXref	Orphanet:399302	Primary avascular necrosis	semapv:ManualMappingCuration
MONDO:0018380	idiopathic avascular necrosis	oboInOwl:hasDbXref	Orphanet:399307	Idiopathic avascular necrosis	semapv:ManualMappingCuration
MONDO:0018381	osteochondrosis	oboInOwl:hasDbXref	Orphanet:399319	Osteochondrosis	semapv:ManualMappingCuration
MONDO:0018382	epiphysiolysis of the hip	oboInOwl:hasDbXref	Orphanet:399329	Epiphysiolysis of the hip	semapv:ManualMappingCuration
MONDO:0018383	osteonecrosis of genetic origin	oboInOwl:hasDbXref	Orphanet:399380	Osteonecrosis of genetic origin	semapv:ManualMappingCuration
MONDO:0018384	obsolete avascular necrosis of genetic origin	oboInOwl:hasDbXref	Orphanet:399388	Avascular necrosis of genetic origin	semapv:ManualMappingCuration
MONDO:0018385	obsolete osteochondrosis of genetic origin	oboInOwl:hasDbXref	Orphanet:399391	Osteochondrosis of genetic origin	semapv:ManualMappingCuration
MONDO:0018386	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	oboInOwl:hasDbXref	Orphanet:399572	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	semapv:ManualMappingCuration
MONDO:0018387	obsolete rare male infertility due to adrenal disorder	oboInOwl:hasDbXref	Orphanet:399584	Rare male infertility due to adrenal disorder	semapv:ManualMappingCuration
MONDO:0018388	obsolete rare male infertility due to testicular endocrine disorder	oboInOwl:hasDbXref	Orphanet:399685	Rare male infertility due to testicular endocrine disorder	semapv:ManualMappingCuration
MONDO:0018389	obsolete male infertility due to gonadal dysgenesis or sperm disorder	oboInOwl:hasDbXref	Orphanet:399764	Male infertility due to gonadal dysgenesis or sperm disorder	semapv:ManualMappingCuration
MONDO:0018390	obsolete male infertility due to sperm disorder	oboInOwl:hasDbXref	Orphanet:399771	Male infertility due to sperm disorder	semapv:ManualMappingCuration
MONDO:0018391	obsolete male infertility with spermatogenesis disorder	oboInOwl:hasDbXref	Orphanet:399775	Male infertility with spermatogenesis disorder	semapv:ManualMappingCuration
MONDO:0018392	obsolete male infertility with spermatogenesis disorder due to single gene mutation	oboInOwl:hasDbXref	Orphanet:399786	Male infertility with spermatogenesis disorder due to single gene mutation	semapv:ManualMappingCuration
MONDO:0018393	obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation	oboInOwl:hasDbXref	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	semapv:ManualMappingCuration
MONDO:0018394	male infertility with teratozoospermia due to single gene mutation	oboInOwl:hasDbXref	Orphanet:399808	Male infertility with teratozoospermia due to single gene mutation	semapv:ManualMappingCuration
MONDO:0018395	obsolete male infertility due to sperm motility disorder	oboInOwl:hasDbXref	Orphanet:399813	Male infertility due to sperm motility disorder	semapv:ManualMappingCuration
MONDO:0018396	obsolete rare male fertility disorder with obstructive azoospermia	oboInOwl:hasDbXref	Orphanet:399824	Rare disorder with obstructive azoospermia	semapv:ManualMappingCuration
MONDO:0018397	obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder	oboInOwl:hasDbXref	Orphanet:399831	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder	semapv:ManualMappingCuration
MONDO:0018398	obsolete female infertility due to a congenital hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:399839	Rare female infertility due to a congenital hypogonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0018400	obsolete rare female infertility due to an adrenal disorder	oboInOwl:hasDbXref	Orphanet:399849	Rare female infertility due to an adrenal disorder	semapv:ManualMappingCuration
MONDO:0018401	obsolete female infertility due to an anomaly of ovarian function	oboInOwl:hasDbXref	Orphanet:399853	Rare female infertility due to an anomaly of ovarian function	semapv:ManualMappingCuration
MONDO:0018402	obsolete female infertility due to gonadal dysgenesis	oboInOwl:hasDbXref	Orphanet:399877	Rare female infertility due to gonadal dysgenesis	semapv:ManualMappingCuration
MONDO:0018403	obsolete female infertility due to an implantation defect	oboInOwl:hasDbXref	Orphanet:399882	Rare female infertility due to an implantation defect	semapv:ManualMappingCuration
MONDO:0018404	obsolete rare genetic male infertility	oboInOwl:hasDbXref	Orphanet:399980	Rare genetic male infertility	semapv:ManualMappingCuration
MONDO:0018405	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	oboInOwl:hasDbXref	Orphanet:399983	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	semapv:ManualMappingCuration
MONDO:0018406	obsolete rare male infertility due to adrenal disorder of genetic origin	oboInOwl:hasDbXref	Orphanet:399994	Rare male infertility due to adrenal disorder of genetic origin	semapv:ManualMappingCuration
MONDO:0018407	obsolete male infertility due to obstructive azoospermia of genetic origin	oboInOwl:hasDbXref	Orphanet:399998	Male infertility due to obstructive azoospermia of genetic origin	semapv:ManualMappingCuration
MONDO:0018408	cystic echinococcosis	oboInOwl:hasDbXref	Orphanet:400	Cystic echinococcosis	semapv:ManualMappingCuration
MONDO:0018409	obsolete rare genetic disorder with obstructive azoospermia	oboInOwl:hasDbXref	Orphanet:400003	Rare genetic disorder with obstructive azoospermia	semapv:ManualMappingCuration
MONDO:0018410	obsolete rare genetic female infertility	oboInOwl:hasDbXref	Orphanet:400008	Rare genetic female infertility	semapv:ManualMappingCuration
MONDO:0018411	obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	oboInOwl:hasDbXref	Orphanet:400011	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	semapv:ManualMappingCuration
MONDO:0018412	obsolete rare female infertility due to adrenal disorder of genetic origin	oboInOwl:hasDbXref	Orphanet:400018	Rare female infertility due to adrenal disorder of genetic origin	semapv:ManualMappingCuration
MONDO:0018413	obsolete female infertility due to an anomaly of ovarian function of genetic origin	oboInOwl:hasDbXref	Orphanet:400022	Rare female infertility due to an anomaly of ovarian function of genetic origin	semapv:ManualMappingCuration
MONDO:0018414	obsolete female infertility due to an implantation defect of genetic origin	oboInOwl:hasDbXref	Orphanet:400025	Female infertility due to an implantation defect of genetic origin	semapv:ManualMappingCuration
MONDO:0018416	autosomal recessive spastic paraplegia type 59	oboInOwl:hasDbXref	Orphanet:401795	Autosomal recessive spastic paraplegia type 59	semapv:ManualMappingCuration
MONDO:0018417	autosomal recessive spastic paraplegia type 60	oboInOwl:hasDbXref	Orphanet:401800	Autosomal recessive spastic paraplegia type 60	semapv:ManualMappingCuration
MONDO:0018418	autosomal recessive spastic paraplegia type 66	oboInOwl:hasDbXref	Orphanet:401815	Autosomal recessive spastic paraplegia type 66	semapv:ManualMappingCuration
MONDO:0018419	autosomal recessive spastic paraplegia type 67	oboInOwl:hasDbXref	Orphanet:401820	Autosomal recessive spastic paraplegia type 67	semapv:ManualMappingCuration
MONDO:0018420	autosomal recessive spastic paraplegia type 68	oboInOwl:hasDbXref	Orphanet:401825	Autosomal recessive spastic paraplegia type 68	semapv:ManualMappingCuration
MONDO:0018421	autosomal recessive spastic paraplegia type 69	oboInOwl:hasDbXref	Orphanet:401830	Autosomal recessive spastic paraplegia type 69	semapv:ManualMappingCuration
MONDO:0018422	autosomal recessive spastic paraplegia type 70	oboInOwl:hasDbXref	Orphanet:401835	Autosomal recessive spastic paraplegia type 70	semapv:ManualMappingCuration
MONDO:0018423	autosomal recessive spastic paraplegia type 71	oboInOwl:hasDbXref	Orphanet:401840	Autosomal recessive spastic paraplegia type 71	semapv:ManualMappingCuration
MONDO:0018424	inherited lipoic acid biosynthesis defect	oboInOwl:hasDbXref	Orphanet:401854	Lipoic acid biosynthesis defect	semapv:ManualMappingCuration
MONDO:0018425	Huntington disease-like syndrome due to C9ORF72 expansions	oboInOwl:hasDbXref	Orphanet:401901	Huntington disease-like syndrome due to C9ORF72 expansions	semapv:ManualMappingCuration
MONDO:0018426	AXIN2-related attenuated familial adenomatous polyposis	oboInOwl:hasDbXref	Orphanet:401911	AXIN2-related attenuated familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0018428	9q31.1q31.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:401923	9q31.1q31.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018429	14q24.1q24.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:401935	14q24.1q24.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018430	partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	oboInOwl:hasDbXref	Orphanet:401959	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	semapv:ManualMappingCuration
MONDO:0018431	cold-induced sweating syndrome - hyperthermia spectrum	oboInOwl:hasDbXref	Orphanet:401993	Cold-induced sweating syndrome-hyperthermia spectrum	semapv:ManualMappingCuration
MONDO:0018432	lichen myxedematosus	oboInOwl:hasDbXref	Orphanet:402007	Lichen myxedematosus	semapv:ManualMappingCuration
MONDO:0018433	acute myeloid leukemia with t(6;9)(p23;q34)	oboInOwl:hasDbXref	Orphanet:402014	Acute myeloid leukemia with t(6;9)(p23;q34)	semapv:ManualMappingCuration
MONDO:0018434	acute myeloid leukemia with t(9;11)(p22;q23)	oboInOwl:hasDbXref	Orphanet:402017	Acute myeloid leukemia with t(9;11)(p22;q23)	semapv:ManualMappingCuration
MONDO:0018435	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	oboInOwl:hasDbXref	Orphanet:402020	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	semapv:ManualMappingCuration
MONDO:0018436	megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	oboInOwl:hasDbXref	Orphanet:402023	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	semapv:ManualMappingCuration
MONDO:0018437	acute myeloid leukemia with NPM1 somatic mutations	oboInOwl:hasDbXref	Orphanet:402026	Acute myeloid leukemia with NPM1 somatic mutations	semapv:ManualMappingCuration
MONDO:0018438	eosinophilic gastrointestinal disease	oboInOwl:hasDbXref	Orphanet:402029	Primary eosinophilic gastrointestinal disease	semapv:ManualMappingCuration
MONDO:0018439	eosinophilic colitis	oboInOwl:hasDbXref	Orphanet:402035	Eosinophilic colitis	semapv:ManualMappingCuration
MONDO:0018440	autosomal recessive distal renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:402041	Autosomal recessive distal renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0018442	acitretin/etretinate embryopathy	oboInOwl:hasDbXref	Orphanet:40366	Acitretin/etretinate embryopathy	semapv:ManualMappingCuration
MONDO:0018443	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	oboInOwl:hasDbXref	Orphanet:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	semapv:ManualMappingCuration
MONDO:0018444	obsolete female infertility due to fertilization defect	oboInOwl:hasDbXref	Orphanet:404469	Rare female infertility due to oocyte maturation defect	semapv:ManualMappingCuration
MONDO:0018445	global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	oboInOwl:hasDbXref	Orphanet:404476	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	semapv:ManualMappingCuration
MONDO:0018446	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:404481	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0018447	chondromyxoid fibroma	oboInOwl:hasDbXref	Orphanet:404507	Chondromyxoid fibroma	semapv:ManualMappingCuration
MONDO:0018448	clear cell papillary renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:404511	Clear cell papillary renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0018449	acquired cystic disease-associated renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:404514	Acquired cystic disease-associated renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0018450	spinal muscular atrophy with respiratory distress type 2	oboInOwl:hasDbXref	Orphanet:404521	Spinal muscular atrophy with respiratory distress type 2	semapv:ManualMappingCuration
MONDO:0018451	obsolete X-linked distal hereditary motor neuropathy	oboInOwl:hasDbXref	Orphanet:404538	X-linked distal hereditary motor neuropathy	semapv:ManualMappingCuration
MONDO:0018453	familial atypical multiple mole melanoma syndrome	oboInOwl:hasDbXref	Orphanet:404560	Familial atypical multiple mole melanoma syndrome	semapv:ManualMappingCuration
MONDO:0018454	obsolete dysostosis of genetic origin	oboInOwl:hasDbXref	Orphanet:404568	Dysostosis of genetic origin	semapv:ManualMappingCuration
MONDO:0018455	obsolete dysostosis of genetic origin with limb anomaly as a major feature	oboInOwl:hasDbXref	Orphanet:404571	Dysostosis of genetic origin with limb anomaly as a major feature	semapv:ManualMappingCuration
MONDO:0018456	polyarticular juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:404580	Polyarticular juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0018457	obsolete rare genetic bone development disorder	oboInOwl:hasDbXref	Orphanet:404584	Rare genetic bone development disorder	semapv:ManualMappingCuration
MONDO:0018458	familial hypocalciuric hypercalcemia	oboInOwl:hasDbXref	Orphanet:405	Familial hypocalciuric hypercalcemia	semapv:ManualMappingCuration
MONDO:0018459	isolated glycerol kinase deficiency	oboInOwl:hasDbXref	Orphanet:408	Isolated glycerol kinase deficiency	semapv:ManualMappingCuration
MONDO:0018460	Eales disease	oboInOwl:hasDbXref	Orphanet:40923	Eales disease	semapv:ManualMappingCuration
MONDO:0018461	Angelman syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:411511	Angelman syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0018462	Angelman syndrome due to imprinting defect in 15q11-q13	oboInOwl:hasDbXref	Orphanet:411515	Angelman syndrome due to imprinting defect in 15q11-q13	semapv:ManualMappingCuration
MONDO:0018463	mild phosphoribosylpyrophosphate synthetase superactivity	oboInOwl:hasDbXref	Orphanet:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	semapv:ManualMappingCuration
MONDO:0018464	severe phosphoribosylpyrophosphate synthetase superactivity	oboInOwl:hasDbXref	Orphanet:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	semapv:ManualMappingCuration
MONDO:0018465	insulin autoimmune syndrome	oboInOwl:hasDbXref	Orphanet:411593	Insulin autoimmune syndrome	semapv:ManualMappingCuration
MONDO:0018467	nephropathic infantile cystinosis	oboInOwl:hasDbXref	Orphanet:411629	Infantile nephropathic cystinosis	semapv:ManualMappingCuration
MONDO:0018468	proton-pump inhibitor-responsive esophageal eosinophilia	oboInOwl:hasDbXref	Orphanet:411696	Proton-pump inhibitor-responsive esophageal eosinophilia	semapv:ManualMappingCuration
MONDO:0018469	pulmonary non-tuberculous mycobacterial infection	oboInOwl:hasDbXref	Orphanet:411703	Pulmonary non-tuberculous mycobacterial infection	semapv:ManualMappingCuration
MONDO:0018470	renal agenesis	oboInOwl:hasDbXref	Orphanet:411709	Renal agenesis	semapv:ManualMappingCuration
MONDO:0018471	generalized eruptive keratoacanthoma	oboInOwl:hasDbXref	Orphanet:411777	Generalized eruptive keratoacanthoma	semapv:ManualMappingCuration
MONDO:0018472	familial isolated trichomegaly	oboInOwl:hasDbXref	Orphanet:411788	Familial isolated trichomegaly	semapv:ManualMappingCuration
MONDO:0018473	hyperlipoproteinemia type 3	oboInOwl:hasDbXref	Orphanet:412	Dysbetalipoproteinemia	semapv:ManualMappingCuration
MONDO:0018474	13q12.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:412035	13q12.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018475	PRKAR1B-related neurodegenerative dementia with intermediate filaments	oboInOwl:hasDbXref	Orphanet:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	semapv:ManualMappingCuration
MONDO:0018476	dystonia-aphonia syndrome	oboInOwl:hasDbXref	Orphanet:412217	Dystonia-aphonia syndrome	semapv:ManualMappingCuration
MONDO:0018477	bilirubin encephalopathy	oboInOwl:hasDbXref	Orphanet:415286	Bilirubin encephalopathy	semapv:ManualMappingCuration
MONDO:0018479	congenital adrenal hyperplasia	oboInOwl:hasDbXref	Orphanet:418	Congenital adrenal hyperplasia	semapv:ManualMappingCuration
MONDO:0018480	carcinoma of esophagus, salivary gland type	oboInOwl:hasDbXref	Orphanet:418945	Carcinoma of esophagus, salivary gland type	semapv:ManualMappingCuration
MONDO:0018481	undifferentiated carcinoma of esophagus	oboInOwl:hasDbXref	Orphanet:418951	Undifferentiated carcinoma of esophagus	semapv:ManualMappingCuration
MONDO:0018483	secondary pulmonary alveolar proteinosis	oboInOwl:hasDbXref	Orphanet:420259	Secondary pulmonary alveolar proteinosis	semapv:ManualMappingCuration
MONDO:0018484	semicircular canal dehiscence syndrome	oboInOwl:hasDbXref	Orphanet:420402	Semicircular canal dehiscence syndrome	semapv:ManualMappingCuration
MONDO:0018485	glycogen storage disease due to acid maltase deficiency, late-onset	oboInOwl:hasDbXref	Orphanet:420429	Glycogen storage disease due to acid maltase deficiency, late-onset	semapv:ManualMappingCuration
MONDO:0018486	visual snow syndrome	oboInOwl:hasDbXref	Orphanet:420556	Visual snow syndrome	semapv:ManualMappingCuration
MONDO:0018487	autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	oboInOwl:hasDbXref	Orphanet:420699	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	semapv:ManualMappingCuration
MONDO:0018488	obsolete rare genetic odontal or periodontal disorder	oboInOwl:hasDbXref	Orphanet:420755	Rare genetic odontal or periodontal disorder	semapv:ManualMappingCuration
MONDO:0018489	autoimmune encephalopathy with parasomnia and obstructive sleep apnea	oboInOwl:hasDbXref	Orphanet:420789	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea	semapv:ManualMappingCuration
MONDO:0018490	cono-spondylar dysplasia	oboInOwl:hasDbXref	Orphanet:420794	Cono-spondylar dysplasia	semapv:ManualMappingCuration
MONDO:0018491	3-phosphoglycerate dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:422519	OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0018492	hereditary clear cell renal cell carcinoma	oboInOwl:hasDbXref	Orphanet:422526	Hereditary clear cell renal cell carcinoma	semapv:ManualMappingCuration
MONDO:0018493	malignant hyperthermia of anesthesia	oboInOwl:hasDbXref	Orphanet:423	Malignant hyperthermia of anesthesia	semapv:ManualMappingCuration
MONDO:0018494	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:423306	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0018495	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	oboInOwl:hasDbXref	Orphanet:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency	semapv:ManualMappingCuration
MONDO:0018496	obsolete ARX-related encephalopathy-brain malformation spectrum	oboInOwl:hasDbXref	Orphanet:423655	ARX-related encephalopathy-brain malformation spectrum	semapv:ManualMappingCuration
MONDO:0018497	obsolete rare autonomic nervous system disorder	oboInOwl:hasDbXref	Orphanet:423662	Rare autonomic nervous system disorder	semapv:ManualMappingCuration
MONDO:0018498	double outlet right ventricle with subaortic or doubly committed ventricular septal defect	oboInOwl:hasDbXref	Orphanet:423693	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect	semapv:ManualMappingCuration
MONDO:0018499	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	oboInOwl:hasDbXref	Orphanet:423712	Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	semapv:ManualMappingCuration
MONDO:0018500	cutaneous larva migrans	oboInOwl:hasDbXref	Orphanet:423717	Cutaneous larva migrans	semapv:ManualMappingCuration
MONDO:0018501	obsolete rare carcinoma of stomach	oboInOwl:hasDbXref	Orphanet:423771	Rare carcinoma of stomach	semapv:ManualMappingCuration
MONDO:0018502	hereditary gastric cancer	oboInOwl:hasDbXref	Orphanet:423776	Hereditary gastric cancer	semapv:ManualMappingCuration
MONDO:0018503	carcinoma of stomach, salivary gland type	oboInOwl:hasDbXref	Orphanet:423781	OBSOLETE: Carcinoma of stomach, salivary gland type	semapv:ManualMappingCuration
MONDO:0018504	undifferentiated carcinoma of stomach	oboInOwl:hasDbXref	Orphanet:423786	Undifferentiated carcinoma of stomach	semapv:ManualMappingCuration
MONDO:0018505	obsolete rare tumor of small intestine	oboInOwl:hasDbXref	Orphanet:423793	Rare tumor of small intestine	semapv:ManualMappingCuration
MONDO:0018506	mesenchymal tumor of small intestine	oboInOwl:hasDbXref	Orphanet:423798	Mesenchymal tumor of small intestine	semapv:ManualMappingCuration
MONDO:0018507	microcephaly-complex motor and sensory axonal neuropathy syndrome	oboInOwl:hasDbXref	Orphanet:423894	Microcephaly-complex motor and sensory axonal neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0018508	obsolete rare carcinoma of small intestine	oboInOwl:hasDbXref	Orphanet:423957	Rare carcinoma of small intestine	semapv:ManualMappingCuration
MONDO:0018509	squamous cell carcinoma of the small intestine	oboInOwl:hasDbXref	Orphanet:423968	Squamous cell carcinoma of the small intestine	semapv:ManualMappingCuration
MONDO:0018510	small intestine neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:423975	Neuroendocrine tumor of the small intestine	semapv:ManualMappingCuration
MONDO:0018511	epithelial tumor of the appendix	oboInOwl:hasDbXref	Orphanet:423982	Epithelial tumor of the appendix	semapv:ManualMappingCuration
MONDO:0018512	obsolete rare epithelial tumor of colon	oboInOwl:hasDbXref	Orphanet:423991	Rare epithelial tumor of colon	semapv:ManualMappingCuration
MONDO:0018513	squamous cell carcinoma of colon	oboInOwl:hasDbXref	Orphanet:423994	Squamous cell carcinoma of the colon	semapv:ManualMappingCuration
MONDO:0018514	obsolete rare epithelial tumor of rectum	oboInOwl:hasDbXref	Orphanet:423998	Rare epithelial tumor of rectum	semapv:ManualMappingCuration
MONDO:0018515	squamous cell carcinoma of rectum	oboInOwl:hasDbXref	Orphanet:424002	Squamous cell carcinoma of the rectum	semapv:ManualMappingCuration
MONDO:0018516	epithelial tumor of anal canal	oboInOwl:hasDbXref	Orphanet:424010	Epithelial tumor of anal canal	semapv:ManualMappingCuration
MONDO:0018520	obsolete rare epithelial tumor of pancreas	oboInOwl:hasDbXref	Orphanet:424033	Rare epithelial tumor of pancreas	semapv:ManualMappingCuration
MONDO:0018521	squamous cell carcinoma of pancreas	oboInOwl:hasDbXref	Orphanet:424039	Squamous cell carcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0018523	pancreatic mucinous cystadenoma	oboInOwl:hasDbXref	Orphanet:424053	Mucinous cystadenocarcinoma of the pancreas	semapv:ManualMappingCuration
MONDO:0018525	solid pseudopapillary carcinoma of pancreas	oboInOwl:hasDbXref	Orphanet:424065	Solid pseudopapillary carcinoma of pancreas	semapv:ManualMappingCuration
MONDO:0018528	congenital myopathy with myasthenic-like onset	oboInOwl:hasDbXref	Orphanet:424107	Congenital myopathy with myasthenic-like onset	semapv:ManualMappingCuration
MONDO:0018529	obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1	oboInOwl:hasDbXref	Orphanet:424925	Qualitative or quantitative defects of Torsin-1A-interacting protein 1	semapv:ManualMappingCuration
MONDO:0018530	obsolete rare epithelial tumor of liver and intrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424933	Rare malignant epithelial tumor of liver and intrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018531	carcinoma of liver and intrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424936	Carcinoma of liver and intrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018532	obsolete adenocarcinoma of liver and intrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424943	Adenocarcinoma of the liver and intrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018533	undifferentiated carcinoma of liver and intrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424970	Undifferentiated carcinoma of liver and intrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018534	squamous cell carcinoma of liver and intrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424975	Squamous cell carcinoma of liver and intrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018535	biliary cystadenocarcinoma	oboInOwl:hasDbXref	Orphanet:424982	Biliary cystadenocarcinoma	semapv:ManualMappingCuration
MONDO:0018536	adenocarcinoma of gallbladder and extrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424991	Adenocarcinoma of the gallbladder and extrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018537	squamous cell carcinoma of gallbladder and extrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:424996	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018538	obsolete inherited digestive cancer-predisposing syndrome	oboInOwl:hasDbXref	Orphanet:425003	Inherited digestive cancer-predisposing syndrome	semapv:ManualMappingCuration
MONDO:0018539	obsolete rare epithelial tumor of small intestine	oboInOwl:hasDbXref	Orphanet:425368	Rare epithelial tumor of small intestine	semapv:ManualMappingCuration
MONDO:0018540	PFAPA syndrome	oboInOwl:hasDbXref	Orphanet:42642	PFAPA syndrome	semapv:ManualMappingCuration
MONDO:0018541	familial hypoaldosteronism	oboInOwl:hasDbXref	Orphanet:427	Familial hypoaldosteronism	semapv:ManualMappingCuration
MONDO:0018542	severe congenital neutropenia	oboInOwl:hasDbXref	Orphanet:42738	Severe congenital neutropenia	semapv:ManualMappingCuration
MONDO:0018543	autosomal dominant hypocalcemia	oboInOwl:hasDbXref	Orphanet:428	Autosomal dominant hypocalcemia	semapv:ManualMappingCuration
MONDO:0018544	adrenoleukodystrophy	oboInOwl:hasDbXref	Orphanet:43	X-linked adrenoleukodystrophy	semapv:ManualMappingCuration
MONDO:0018545	obsolete primary immunodeficiency with predisposition to severe viral infection	oboInOwl:hasDbXref	Orphanet:431156	Primary immunodeficiency with predisposition to severe viral infection	semapv:ManualMappingCuration
MONDO:0018546	serotonin syndrome	oboInOwl:hasDbXref	Orphanet:43116	Serotonin syndrome	semapv:ManualMappingCuration
MONDO:0018547	acute tricyclic antidepressant poisoning	oboInOwl:hasDbXref	Orphanet:43117	Acute tricyclic antidepressant poisoning	semapv:ManualMappingCuration
MONDO:0018548	acute poisoning by drugs with membrane-stabilizing effect	oboInOwl:hasDbXref	Orphanet:43119	Acute poisoning by drugs with membrane-stabilizing effect	semapv:ManualMappingCuration
MONDO:0018549	obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies	oboInOwl:hasDbXref	Orphanet:431263	Late-onset scapuloperoneal muscular dystrophy with hyaline bodies	semapv:ManualMappingCuration
MONDO:0018550	obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder	oboInOwl:hasDbXref	Orphanet:431320	Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder	semapv:ManualMappingCuration
MONDO:0018551	patent urachus	oboInOwl:hasDbXref	Orphanet:431341	Patent urachus	semapv:ManualMappingCuration
MONDO:0018552	urachal sinus	oboInOwl:hasDbXref	Orphanet:431344	Urachal sinus	semapv:ManualMappingCuration
MONDO:0018553	urachal diverticulum	oboInOwl:hasDbXref	Orphanet:431347	Urachal diverticulum	semapv:ManualMappingCuration
MONDO:0018554	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	oboInOwl:hasDbXref	Orphanet:431353	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	semapv:ManualMappingCuration
MONDO:0018555	hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:432	Normosmic congenital hypogonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0018556	Lambert-Eaton myasthenic syndrome	oboInOwl:hasDbXref	Orphanet:43393	Lambert-Eaton myasthenic syndrome	semapv:ManualMappingCuration
MONDO:0018557	obsolete rare genetic autonomic nervous system disorder	oboInOwl:hasDbXref	Orphanet:434786	Rare genetic autonomic nervous system disorder	semapv:ManualMappingCuration
MONDO:0018558	obsolete syndrome with wooly hair	oboInOwl:hasDbXref	Orphanet:434809	Syndrome with woolly hair	semapv:ManualMappingCuration
MONDO:0018559	fetal lower urinary tract obstruction	oboInOwl:hasDbXref	Orphanet:435365	Fetal lower urinary tract obstruction	semapv:ManualMappingCuration
MONDO:0018560	obsolete anterior urethral valve	oboInOwl:hasDbXref	Orphanet:435372	Anterior urethral valve	semapv:ManualMappingCuration
MONDO:0018561	precocious puberty in female	oboInOwl:hasDbXref	Orphanet:435561	Rare precocious puberty in female	semapv:ManualMappingCuration
MONDO:0018562	obsolete hereditary otorhinolaryngological malformation	oboInOwl:hasDbXref	Orphanet:435603	Genetic otorhinolaryngological malformation	semapv:ManualMappingCuration
MONDO:0018563	adactyly of foot	oboInOwl:hasDbXref	Orphanet:435623	OBSOLETE: Adactyly of foot	semapv:ManualMappingCuration
MONDO:0018564	3p25.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:435638	3p25.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018565	congenital urachal anomaly	oboInOwl:hasDbXref	Orphanet:435743	Congenital urachal anomaly	semapv:ManualMappingCuration
MONDO:0018566	short stature-advanced bone age-early-onset osteoarthritis syndrome	oboInOwl:hasDbXref	Orphanet:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	semapv:ManualMappingCuration
MONDO:0018567	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	oboInOwl:hasDbXref	Orphanet:435819	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	semapv:ManualMappingCuration
MONDO:0018569	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	oboInOwl:hasDbXref	Orphanet:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	semapv:ManualMappingCuration
MONDO:0018570	hypophosphatasia	oboInOwl:hasDbXref	Orphanet:436	Hypophosphatasia	semapv:ManualMappingCuration
MONDO:0018571	contractures-developmental delay-Pierre Robin syndrome	oboInOwl:hasDbXref	Orphanet:436003	Contractures-developmental delay-Pierre Robin syndrome	semapv:ManualMappingCuration
MONDO:0018572	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	oboInOwl:hasDbXref	Orphanet:436141	HIDEA syndrome	semapv:ManualMappingCuration
MONDO:0018573	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	oboInOwl:hasDbXref	Orphanet:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	semapv:ManualMappingCuration
MONDO:0018574	obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:436151	OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0018575	obsolete microcephalic primordial dwarfism-insulin resistance syndrome	oboInOwl:hasDbXref	Orphanet:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	semapv:ManualMappingCuration
MONDO:0018576	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0018577	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	oboInOwl:hasDbXref	Orphanet:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	semapv:ManualMappingCuration
MONDO:0018579	obsolete disorder of ketone body transport	oboInOwl:hasDbXref	Orphanet:438072	Disorder of keton body transport	semapv:ManualMappingCuration
MONDO:0018581	progressive encephalomyelitis with rigidity and myoclonus	oboInOwl:hasDbXref	Orphanet:438266	Progressive encephalomyelitis with rigidity and myoclonus	semapv:ManualMappingCuration
MONDO:0018582	GCGR-related hyperglucagonemia	oboInOwl:hasDbXref	Orphanet:438274	GCGR-related hyperglucagonemia	semapv:ManualMappingCuration
MONDO:0018583	human infection by orthopoxvirus	oboInOwl:hasDbXref	Orphanet:438279	Human infection by orthopoxvirus	semapv:ManualMappingCuration
MONDO:0018585	pediatric arterial ischemic stroke	oboInOwl:hasDbXref	Orphanet:439175	Pediatric arterial ischemic stroke	semapv:ManualMappingCuration
MONDO:0018586	zinc-responsive necrolytic acral erythema	oboInOwl:hasDbXref	Orphanet:439196	Zinc-responsive necrolytic acral erythema	semapv:ManualMappingCuration
MONDO:0018587	non-recovering obstetric brachial plexus lesion	oboInOwl:hasDbXref	Orphanet:439202	Non-recovering obstetric brachial plexus lesion	semapv:ManualMappingCuration
MONDO:0018588	ALECT2 amyloidosis	oboInOwl:hasDbXref	Orphanet:439224	ALECT2 amyloidosis	semapv:ManualMappingCuration
MONDO:0018589	AApoAIV amyloidosis	oboInOwl:hasDbXref	Orphanet:439232	AApoAIV amyloidosis	semapv:ManualMappingCuration
MONDO:0018590	ABeta2M amyloidosis	oboInOwl:hasDbXref	Orphanet:439246	ABeta2M amyloidosis	semapv:ManualMappingCuration
MONDO:0018591	ITM2B amyloidosis	oboInOwl:hasDbXref	Orphanet:439254	ITM2B amyloidosis	semapv:ManualMappingCuration
MONDO:0018592	cutaneous polyarteritis nodosa	oboInOwl:hasDbXref	Orphanet:439729	Cutaneous polyarteritis nodosa	semapv:ManualMappingCuration
MONDO:0018593	primary polyarteritis nodosa	oboInOwl:hasDbXref	Orphanet:439737	Primary polyarteritis nodosa	semapv:ManualMappingCuration
MONDO:0018594	secondary polyarteritis nodosa	oboInOwl:hasDbXref	Orphanet:439746	Secondary polyarteritis nodosa	semapv:ManualMappingCuration
MONDO:0018595	single-organ polyarteritis nodosa	oboInOwl:hasDbXref	Orphanet:439755	Single-organ polyarteritis nodosa	semapv:ManualMappingCuration
MONDO:0018596	systemic polyarteritis nodosa	oboInOwl:hasDbXref	Orphanet:439762	Systemic polyarteritis nodosa	semapv:ManualMappingCuration
MONDO:0018597	plastic bronchitis	oboInOwl:hasDbXref	Orphanet:439881	Plastic bronchitis	semapv:ManualMappingCuration
MONDO:0018598	obsolete neonatal adrenoleukodystrophy	oboInOwl:hasDbXref	Orphanet:44	Neonatal adrenoleukodystrophy	semapv:ManualMappingCuration
MONDO:0018599	congenital oculomotor nerve palsy	oboInOwl:hasDbXref	Orphanet:440221	Congenital oculomotor nerve palsy	semapv:ManualMappingCuration
MONDO:0018600	congenital abducens nerve palsy	oboInOwl:hasDbXref	Orphanet:440233	Congenital abducens nerve palsy	semapv:ManualMappingCuration
MONDO:0018601	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0018602	necrotizing soft tissue infection	oboInOwl:hasDbXref	Orphanet:440368	Necrotizing soft tissue infection	semapv:ManualMappingCuration
MONDO:0018603	SFTPC- related interstitial lung disease	oboInOwl:hasDbXref	Orphanet:440392	Interstitial lung disease due to SP-C deficiency	semapv:ManualMappingCuration
MONDO:0018604	familial colorectal cancer type X	oboInOwl:hasDbXref	Orphanet:440437	Familial colorectal cancer Type X	semapv:ManualMappingCuration
MONDO:0018605	disorders of pentose/polyol metabolism	oboInOwl:hasDbXref	Orphanet:440701	Disorders of pentose/polyol metabolism	semapv:ManualMappingCuration
MONDO:0018606	extensive peripapillary myelinated nerve fibers	oboInOwl:hasDbXref	Orphanet:440724	Extensive peripapillary myelinated nerve fibers	semapv:ManualMappingCuration
MONDO:0018607	combined hamartoma of the retina and retinal pigment epithelium	oboInOwl:hasDbXref	Orphanet:440727	Combined hamartoma of the retina and retinal pigment epithelium	semapv:ManualMappingCuration
MONDO:0018608	pure autonomic failure	oboInOwl:hasDbXref	Orphanet:441	Pure autonomic failure	semapv:ManualMappingCuration
MONDO:0018609	obsolete syndromic hereditary optic neuropathy	oboInOwl:hasDbXref	Orphanet:441434	Syndromic hereditary optic neuropathy	semapv:ManualMappingCuration
MONDO:0018610	early-onset posterior subcapsular cataract	oboInOwl:hasDbXref	Orphanet:441447	Early-onset posterior subcapsular cataract	semapv:ManualMappingCuration
MONDO:0018611	early-onset lamellar cataract	oboInOwl:hasDbXref	Orphanet:441452	Early-onset lamellar cataract	semapv:ManualMappingCuration
MONDO:0018612	congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:442	Congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0018613	AH amyloidosis	oboInOwl:hasDbXref	Orphanet:442582	AH amyloidosis	semapv:ManualMappingCuration
MONDO:0018614	undetermined early-onset epileptic encephalopathy	oboInOwl:hasDbXref	Orphanet:442835	Non-specific early-onset epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0018615	hemicrania continua	oboInOwl:hasDbXref	Orphanet:443070	Hemicrania continua	semapv:ManualMappingCuration
MONDO:0018616	central serous chorioretinopathy	oboInOwl:hasDbXref	Orphanet:443079	Central serous chorioretinopathy	semapv:ManualMappingCuration
MONDO:0018617	baroreflex failure	oboInOwl:hasDbXref	Orphanet:443084	Baroreflex failure	semapv:ManualMappingCuration
MONDO:0018618	obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect	oboInOwl:hasDbXref	Orphanet:443090	46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect	semapv:ManualMappingCuration
MONDO:0018620	hypothalamic adipsic hypernatraemia syndrome	oboInOwl:hasDbXref	Orphanet:443101	Hypothalamic adipsic hypernatraemia syndrome	semapv:ManualMappingCuration
MONDO:0018621	lymphoplasmacytic lymphoma without IgM production	oboInOwl:hasDbXref	Orphanet:443159	Lymphoplasmacytic lymphoma without IgM production	semapv:ManualMappingCuration
MONDO:0018623	postpartum psychosis	oboInOwl:hasDbXref	Orphanet:443173	Postpartum psychosis	semapv:ManualMappingCuration
MONDO:0018624	spontaneous intracranial hypotension	oboInOwl:hasDbXref	Orphanet:443180	Spontaneous intracranial hypotension	semapv:ManualMappingCuration
MONDO:0018625	classic stiff person syndrome	oboInOwl:hasDbXref	Orphanet:443192	Classic stiff person syndrome	semapv:ManualMappingCuration
MONDO:0018626	paratyphoid fever	oboInOwl:hasDbXref	Orphanet:443227	Paratyphoid fever	semapv:ManualMappingCuration
MONDO:0018627	obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor	oboInOwl:hasDbXref	Orphanet:443287	OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor	semapv:ManualMappingCuration
MONDO:0018628	HIV-associated cancer	oboInOwl:hasDbXref	Orphanet:443291	HIV-associated cancer	semapv:ManualMappingCuration
MONDO:0018629	focal stiff limb syndrome	oboInOwl:hasDbXref	Orphanet:443804	Focal stiff limb syndrome	semapv:ManualMappingCuration
MONDO:0018630	hereditary nonpolyposis colon cancer	oboInOwl:hasDbXref	Orphanet:443909	Hereditary nonpolyposis colon cancer	semapv:ManualMappingCuration
MONDO:0018631	Marie Unna hereditary hypotrichosis	oboInOwl:hasDbXref	Orphanet:444	Marie Unna hereditary hypotrichosis	semapv:ManualMappingCuration
MONDO:0018632	11q22.2q22.3 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:444002	11q22.2q22.3 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018633	20q11.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:444051	20q11.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018634	hereditary amyloidosis	oboInOwl:hasDbXref	Orphanet:444116	Hereditary amyloidosis	semapv:ManualMappingCuration
MONDO:0018635	idiopathic phalangeal acro-osteolysis	oboInOwl:hasDbXref	Orphanet:444316	Idiopathic phalangeal acro-osteolysis	semapv:ManualMappingCuration
MONDO:0018636	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	oboInOwl:hasDbXref	Orphanet:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency	semapv:ManualMappingCuration
MONDO:0018637	familial chylomicronemia syndrome	oboInOwl:hasDbXref	Orphanet:444490	Familial chylomicronemia syndrome	semapv:ManualMappingCuration
MONDO:0018638	pseudohypoaldosteronism	oboInOwl:hasDbXref	Orphanet:444916	Pseudohypoaldosteronism	semapv:ManualMappingCuration
MONDO:0018639	caudal regression-sirenomelia spectrum	oboInOwl:hasDbXref	Orphanet:444941	Caudal regression-sirenomelia spectrum	semapv:ManualMappingCuration
MONDO:0018640	secondary vasculitis	oboInOwl:hasDbXref	Orphanet:445197	Secondary vasculitis	semapv:ManualMappingCuration
MONDO:0018642	NIK deficiency	oboInOwl:hasDbXref	Orphanet:447731	NIK deficiency	semapv:ManualMappingCuration
MONDO:0018643	susceptibility to localized juvenile periodontitis	oboInOwl:hasDbXref	Orphanet:447740	Aggressive periodontitis	semapv:ManualMappingCuration
MONDO:0018644	autosomal dominant complex spastic paraplegia type 9B	oboInOwl:hasDbXref	Orphanet:447757	Autosomal dominant spastic paraplegia type 9B	semapv:ManualMappingCuration
MONDO:0018645	IgG4-related sclerosing cholangitis	oboInOwl:hasDbXref	Orphanet:447764	IgG4-related sclerosing cholangitis	semapv:ManualMappingCuration
MONDO:0018646	sclerosing cholangitis	oboInOwl:hasDbXref	Orphanet:447771	Sclerosing cholangitis	semapv:ManualMappingCuration
MONDO:0018647	secondary sclerosing cholangitis	oboInOwl:hasDbXref	Orphanet:447774	Secondary sclerosing cholangitis	semapv:ManualMappingCuration
MONDO:0018648	Keratocystic odontogenic tumor	oboInOwl:hasDbXref	Orphanet:447777	Keratocystic odontogenic tumor	semapv:ManualMappingCuration
MONDO:0018649	obsolete cerebral visual impairment	oboInOwl:hasDbXref	Orphanet:447788	Cerebral visual impairment	semapv:ManualMappingCuration
MONDO:0018651	obsolete lipoyl transferase 2 deficiency	oboInOwl:hasDbXref	Orphanet:447795	Lipoyl transferase 2 deficiency	semapv:ManualMappingCuration
MONDO:0018652	obsolete biological anomaly without phenotypic characterization	oboInOwl:hasDbXref	Orphanet:447874	Biological anomaly without phenotypic characterization	semapv:ManualMappingCuration
MONDO:0018653	Polymerase proofreading-related adenomatous polyposis	oboInOwl:hasDbXref	Orphanet:447877	Polymerase proofreading-related adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0018654	idiopathic dropped head syndrome	oboInOwl:hasDbXref	Orphanet:447881	Idiopathic dropped head syndrome	semapv:ManualMappingCuration
MONDO:0018655	hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	oboInOwl:hasDbXref	Orphanet:447893	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	semapv:ManualMappingCuration
MONDO:0018656	tremor-ataxia-central hypomyelination syndrome	oboInOwl:hasDbXref	Orphanet:447896	Tremor-ataxia-central hypomyelination syndrome	semapv:ManualMappingCuration
MONDO:0018657	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	oboInOwl:hasDbXref	Orphanet:447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	semapv:ManualMappingCuration
MONDO:0018658	19p13.3 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:447980	19p13.3 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0018659	partial duplication of the short arm of chromosome 19	oboInOwl:hasDbXref	Orphanet:447985	Partial duplication of the short arm of chromosome 19 syndrome	semapv:ManualMappingCuration
MONDO:0018660	hemophilia	oboInOwl:hasDbXref	Orphanet:448	Hemophilia	semapv:ManualMappingCuration
MONDO:0018661	Zika virus infectious disease	oboInOwl:hasDbXref	Orphanet:448237	Zika virus disease	semapv:ManualMappingCuration
MONDO:0018662	autosomal recessive brachyolmia	oboInOwl:hasDbXref	Orphanet:448242	Autosomal recessive brachyolmia	semapv:ManualMappingCuration
MONDO:0018663	regressive spondylometaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:448267	Regressive spondylometaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0018664	ectopia cordis	oboInOwl:hasDbXref	Orphanet:448270	Ectopia cordis	semapv:ManualMappingCuration
MONDO:0018665	obsolete X-linked acrogigantism due to a point mutation	oboInOwl:hasDbXref	Orphanet:448348	OBSOLETE: X-linked acrogigantism due to a point mutation	semapv:ManualMappingCuration
MONDO:0018666	hepatoblastoma	oboInOwl:hasDbXref	Orphanet:449	Hepatoblastoma	semapv:ManualMappingCuration
MONDO:0018667	pleural empyema	oboInOwl:hasDbXref	Orphanet:449266	Pleural empyema	semapv:ManualMappingCuration
MONDO:0018668	scedosporiosis	oboInOwl:hasDbXref	Orphanet:449280	Scedosporiosis	semapv:ManualMappingCuration
MONDO:0018669	snakebite envenomation	oboInOwl:hasDbXref	Orphanet:449285	Snakebite envenomation	semapv:ManualMappingCuration
MONDO:0018670	symptomatic form of fragile X syndrome in female carrier	oboInOwl:hasDbXref	Orphanet:449291	Symptomatic form of fragile X syndrome in female carriers	semapv:ManualMappingCuration
MONDO:0018671	IgG4-related kidney disease	oboInOwl:hasDbXref	Orphanet:449395	IgG4-related kidney disease	semapv:ManualMappingCuration
MONDO:0018672	IgG4-related aortitis	oboInOwl:hasDbXref	Orphanet:449400	IgG4-related aortitis	semapv:ManualMappingCuration
MONDO:0018673	IgG4-related pachymeningitis	oboInOwl:hasDbXref	Orphanet:449427	IgG4-related pachymeningitis	semapv:ManualMappingCuration
MONDO:0018674	IgG4-related submandibular gland disease	oboInOwl:hasDbXref	Orphanet:449432	IgG4-related submandibular gland disease	semapv:ManualMappingCuration
MONDO:0018675	IgG4-related ophthalmic disorder	oboInOwl:hasDbXref	Orphanet:449563	IgG4-related ophthalmic disease	semapv:ManualMappingCuration
MONDO:0018676	eosinophilic angiocentric fibrosis	oboInOwl:hasDbXref	Orphanet:449566	Eosinophilic angiocentric fibrosis	semapv:ManualMappingCuration
MONDO:0018677	visceral heterotaxy	oboInOwl:hasDbXref	Orphanet:157769	Situs ambiguus	semapv:ManualMappingCuration
MONDO:0018677	visceral heterotaxy	oboInOwl:hasDbXref	Orphanet:450	Heterotaxia	semapv:ManualMappingCuration
MONDO:0018678	polyclonal hyperviscosity syndrome	oboInOwl:hasDbXref	Orphanet:450322	Polyclonal hyperviscosity syndrome	semapv:ManualMappingCuration
MONDO:0018679	primary cutaneous plasmacytosis	oboInOwl:hasDbXref	Orphanet:451602	Primary cutaneous plasmacytosis	semapv:ManualMappingCuration
MONDO:0018680	cutaneous pseudolymphoma	oboInOwl:hasDbXref	Orphanet:451607	Cutaneous pseudolymphoma	semapv:ManualMappingCuration
MONDO:0018681	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:453499	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0018682	congenital insensitivity to pain with severe intellectual disability	oboInOwl:hasDbXref	Orphanet:453510	Congenital insensitivity to pain with severe intellectual disability	semapv:ManualMappingCuration
MONDO:0018683	acquired ichthyosis	oboInOwl:hasDbXref	Orphanet:454	Acquired ichthyosis	semapv:ManualMappingCuration
MONDO:0018684	idiopathic neonatal atrial flutter	oboInOwl:hasDbXref	Orphanet:45452	Idiopathic neonatal atrial flutter	semapv:ManualMappingCuration
MONDO:0018685	incessant infant ventricular tachycardia	oboInOwl:hasDbXref	Orphanet:45453	Incessant infant ventricular tachycardia	semapv:ManualMappingCuration
MONDO:0018686	acquired Creutzfeldt-Jakob disease	oboInOwl:hasDbXref	Orphanet:454700	Acquired Creutzfeldt-Jakob disease	semapv:ManualMappingCuration
MONDO:0018687	progressive muscular atrophy	oboInOwl:hasDbXref	Orphanet:454706	Progressive muscular atrophy	semapv:ManualMappingCuration
MONDO:0018688	anti-p200 pemphigoid	oboInOwl:hasDbXref	Orphanet:454710	Anti-p200 pemphigoid	semapv:ManualMappingCuration
MONDO:0018689	plasma cell leukemia	oboInOwl:hasDbXref	Orphanet:454714	Plasma cell leukemia	semapv:ManualMappingCuration
MONDO:0018690	Holmes-Adie syndrome	oboInOwl:hasDbXref	Orphanet:454718	Holmes-Adie syndrome	semapv:ManualMappingCuration
MONDO:0018692	variably protease-sensitive prionopathy	oboInOwl:hasDbXref	Orphanet:454742	Variably protease-sensitive prionopathy	semapv:ManualMappingCuration
MONDO:0018694	isolated tracheo-esophageal fistula	oboInOwl:hasDbXref	Orphanet:454750	Isolated tracheoesophageal fistula	semapv:ManualMappingCuration
MONDO:0018695	avian influenza	oboInOwl:hasDbXref	Orphanet:454836	Avian influenza	semapv:ManualMappingCuration
MONDO:0018696	corticobasal syndrome	oboInOwl:hasDbXref	Orphanet:454887	Corticobasal syndrome	semapv:ManualMappingCuration
MONDO:0018697	1p35.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:456298	1p35.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0018698	hereditary neuroendocrine tumor of small intestine	oboInOwl:hasDbXref	Orphanet:456333	Hereditary neuroendocrine tumor of small intestine	semapv:ManualMappingCuration
MONDO:0018699	obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy	oboInOwl:hasDbXref	Orphanet:457059	Pseudohypoparathyroidism with Albright hereditary osteodystrophy	semapv:ManualMappingCuration
MONDO:0018700	obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy	oboInOwl:hasDbXref	Orphanet:457062	Pseudohypoparathyroidism without Albright hereditary osteodystrophy	semapv:ManualMappingCuration
MONDO:0018701	obsolete congenital nemaline myopathy	oboInOwl:hasDbXref	Orphanet:457074	Congenital nemaline myopathy	semapv:ManualMappingCuration
MONDO:0018702	Castleman-Kojima disease	oboInOwl:hasDbXref	Orphanet:457077	TAFRO syndrome	semapv:ManualMappingCuration
MONDO:0018703	isolated splenogonadal fusion	oboInOwl:hasDbXref	Orphanet:457083	Isolated splenogonadal fusion	semapv:ManualMappingCuration
MONDO:0018705	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	oboInOwl:hasDbXref	Orphanet:457205	Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	semapv:ManualMappingCuration
MONDO:0018708	squamous cell carcinoma of the oral tongue	oboInOwl:hasDbXref	Orphanet:457252	Squamous cell carcinoma of the oral tongue	semapv:ManualMappingCuration
MONDO:0018709	X-linked intellectual disability-hypotonia-movement disorder syndrome	oboInOwl:hasDbXref	Orphanet:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	semapv:ManualMappingCuration
MONDO:0018710	megalencephaly-severe kyphoscoliosis-overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0018711	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:457365	Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0018712	composite hemangioendothelioma	oboInOwl:hasDbXref	Orphanet:458758	Composite hemangioendothelioma	semapv:ManualMappingCuration
MONDO:0018713	retiform hemangioendothelioma	oboInOwl:hasDbXref	Orphanet:458763	Retiform hemangioendothelioma	semapv:ManualMappingCuration
MONDO:0018714	primary intralymphatic angioendothelioma	oboInOwl:hasDbXref	Orphanet:458768	Papillary intralymphatic angioendothelioma	semapv:ManualMappingCuration
MONDO:0018715	congenital hemangioma	oboInOwl:hasDbXref	Orphanet:458775	Congenital hemangioma	semapv:ManualMappingCuration
MONDO:0018716	partially involuting congenital hemangioma	oboInOwl:hasDbXref	Orphanet:458785	Partially involuting congenital hemangioma	semapv:ManualMappingCuration
MONDO:0018717	mixed cystic lymphatic malformation	oboInOwl:hasDbXref	Orphanet:458792	Mixed cystic lymphatic malformation	semapv:ManualMappingCuration
MONDO:0018718	obsolete vascular tumor with associated anomalies	oboInOwl:hasDbXref	Orphanet:458827	OBSOLETE: Vascular tumor with associated anomalies	semapv:ManualMappingCuration
MONDO:0018719	obsolete obsolete rare capillary malformation with associated anomalies	oboInOwl:hasDbXref	Orphanet:458830	Rare capillary malformation with associated anomalies	semapv:ManualMappingCuration
MONDO:0018720	obsolete common cystic lymphatic malformation	oboInOwl:hasDbXref	Orphanet:458833	Common cystic lymphatic malformation	semapv:ManualMappingCuration
MONDO:0018721	obsolete rare combined vascular malformation	oboInOwl:hasDbXref	Orphanet:458837	Rare combined vascular malformation	semapv:ManualMappingCuration
MONDO:0018722	obsolete primary lymphedema with associated anomalies	oboInOwl:hasDbXref	Orphanet:458841	OBSOLETE: Primary lymphedema with associated anomalies	semapv:ManualMappingCuration
MONDO:0018723	obsolete rare vascular malformation of major vessels	oboInOwl:hasDbXref	Orphanet:458844	Rare vascular malformation of major vessels	semapv:ManualMappingCuration
MONDO:0018724	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0018725	corpus callosum agenesis-macrocephaly-hypertelorism syndrome	oboInOwl:hasDbXref	Orphanet:459074	Corpus callosum agenesis-macrocephaly-hypertelorism syndrome	semapv:ManualMappingCuration
MONDO:0018727	obsolete immunodeficiency due to a complement regulatory deficiency	oboInOwl:hasDbXref	Orphanet:459348	Immunodeficiency due to a complement regulatory deficiency	semapv:ManualMappingCuration
MONDO:0018728	obsolete rare genetic capillary malformation	oboInOwl:hasDbXref	Orphanet:459526	Rare genetic capillary malformation	semapv:ManualMappingCuration
MONDO:0018729	obsolete genetic vascular tumor	oboInOwl:hasDbXref	Orphanet:459543	Rare genetic vascular tumor	semapv:ManualMappingCuration
MONDO:0018730	obsolete rare genetic venous malformation	oboInOwl:hasDbXref	Orphanet:459548	Rare genetic venous malformation	semapv:ManualMappingCuration
MONDO:0018731	obsolete lethal multiple congenital anomalies/dysmorphic syndrome	oboInOwl:hasDbXref	Orphanet:459787	Lethal multiple congenital anomalies/dysmorphic syndrome	semapv:ManualMappingCuration
MONDO:0018733	intellectual disability syndrome due to a DYRK1A point mutation	oboInOwl:hasDbXref	Orphanet:464311	Intellectual disability syndrome due to a DYRK1A point mutation	semapv:ManualMappingCuration
MONDO:0018734	verrucous hemangioma	oboInOwl:hasDbXref	Orphanet:464318	Verrucous hemangioma	semapv:ManualMappingCuration
MONDO:0018735	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	oboInOwl:hasDbXref	Orphanet:464321	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	semapv:ManualMappingCuration
MONDO:0018736	kaposiform lymphangiomatosis	oboInOwl:hasDbXref	Orphanet:464329	Kaposiform lymphangiomatosis	semapv:ManualMappingCuration
MONDO:0018737	catastrophic antiphospholipid syndrome	oboInOwl:hasDbXref	Orphanet:464343	Catastrophic antiphospholipid syndrome	semapv:ManualMappingCuration
MONDO:0018738	benign metanephric tumor	oboInOwl:hasDbXref	Orphanet:464359	Benign metanephric tumor	semapv:ManualMappingCuration
MONDO:0018739	neonatal alloimmune neutropenia	oboInOwl:hasDbXref	Orphanet:464370	Neonatal alloimmune neutropenia	semapv:ManualMappingCuration
MONDO:0018740	drug-induced methemoglobinemia	oboInOwl:hasDbXref	Orphanet:464453	Acquired methemoglobinemia	semapv:ManualMappingCuration
MONDO:0018741	paracetamol poisoning	oboInOwl:hasDbXref	Orphanet:464458	Paracetamol poisoning	semapv:ManualMappingCuration
MONDO:0018742	familial gastric type 1 neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:464756	Familial gastric type 1 neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0018743	obsolete immune-mediated acquired neuromuscular junction disease	oboInOwl:hasDbXref	Orphanet:464764	Immune-mediated acquired neuromuscular junction disease	semapv:ManualMappingCuration
MONDO:0018744	oligodendroglial tumor	oboInOwl:hasDbXref	Orphanet:46484	Oligodendroglial tumor	semapv:ManualMappingCuration
MONDO:0018745	obsolete superficial pemphigus	oboInOwl:hasDbXref	Orphanet:46485	Superficial pemphigus	semapv:ManualMappingCuration
MONDO:0018746	mucous membrane pemphigoid	oboInOwl:hasDbXref	Orphanet:46486	Mucous membrane pemphigoid	semapv:ManualMappingCuration
MONDO:0018747	acquired epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:46487	Epidermolysis bullosa acquisita	semapv:ManualMappingCuration
MONDO:0018748	linear IgA Dermatosis	oboInOwl:hasDbXref	Orphanet:46488	Linear IgA dermatosis	semapv:ManualMappingCuration
MONDO:0018749	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	oboInOwl:hasDbXref	Orphanet:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	semapv:ManualMappingCuration
MONDO:0018751	hereditary otorhinolaryngologic disease	oboInOwl:hasDbXref	Orphanet:466084	Genetic otorhinolaryngologic disease	semapv:ManualMappingCuration
MONDO:0018752	exercise-induced malignant hyperthermia	oboInOwl:hasDbXref	Orphanet:466650	Exercise-induced malignant hyperthermia	semapv:ManualMappingCuration
MONDO:0018753	obsolete rare disease with malignant hyperthermia	oboInOwl:hasDbXref	Orphanet:466658	Rare disease with malignant hyperthermia	semapv:ManualMappingCuration
MONDO:0018754	cyanide poisoning	oboInOwl:hasDbXref	Orphanet:466670	Cyanide poisoning	semapv:ManualMappingCuration
MONDO:0018755	scorpion envenomation	oboInOwl:hasDbXref	Orphanet:466677	Scorpion envenomation	semapv:ManualMappingCuration
MONDO:0018756	euthyroid Graves orbitopathy	oboInOwl:hasDbXref	Orphanet:466682	Euthyroid Graves orbitopathy	semapv:ManualMappingCuration
MONDO:0018757	supratip dysplasia	oboInOwl:hasDbXref	Orphanet:466695	Supratip dysplasia	semapv:ManualMappingCuration
MONDO:0018758	obsolete familial patent arterial duct	oboInOwl:hasDbXref	Orphanet:466729	Familial patent arterial duct	semapv:ManualMappingCuration
MONDO:0018759	childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	oboInOwl:hasDbXref	Orphanet:466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	semapv:ManualMappingCuration
MONDO:0018760	DeSanto-Shinawi syndrome	oboInOwl:hasDbXref	Orphanet:466943	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0018761	SMARCA4-deficient sarcoma of thorax	oboInOwl:hasDbXref	Orphanet:466962	SMARCA4-deficient sarcoma of thorax	semapv:ManualMappingCuration
MONDO:0018762	non-acquired combined pituitary hormone deficiency	oboInOwl:hasDbXref	Orphanet:467	Non-acquired combined pituitary hormone deficiency	semapv:ManualMappingCuration
MONDO:0018763	tubulinopathy-associated dysgyria	oboInOwl:hasDbXref	Orphanet:467166	Tubulinopathy-associated dysgyria	semapv:ManualMappingCuration
MONDO:0018764	microcephalic primordial dwarfism due to RTTN deficiency	oboInOwl:hasDbXref	Orphanet:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	semapv:ManualMappingCuration
MONDO:0018765	cryptogenic multifocal ulcerous stenosing enteritis	oboInOwl:hasDbXref	Orphanet:468635	Cryptogenic multifocal ulcerous stenosing enteritis	semapv:ManualMappingCuration
MONDO:0018766	chronic enteropathy associated with SLCO2A1 gene	oboInOwl:hasDbXref	Orphanet:468641	Chronic enteropathy associated with SLCO2A1 gene	semapv:ManualMappingCuration
MONDO:0018767	severe primary trimethylaminuria	oboInOwl:hasDbXref	Orphanet:468726	Severe primary trimethylaminuria	semapv:ManualMappingCuration
MONDO:0018768	familial cold autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:47045	Familial cold urticaria	semapv:ManualMappingCuration
MONDO:0018769	isosporiasis	oboInOwl:hasDbXref	Orphanet:472	Isosporiasis	semapv:ManualMappingCuration
MONDO:0018770	Jeune syndrome	oboInOwl:hasDbXref	Orphanet:474	Jeune syndrome	semapv:ManualMappingCuration
MONDO:0018771	obsolete congenital anomaly of ventricular septum	oboInOwl:hasDbXref	Orphanet:474347	Rare congenital anomaly of ventricular septum	semapv:ManualMappingCuration
MONDO:0018772	Joubert syndrome	oboInOwl:hasDbXref	Orphanet:475	Joubert syndrome	semapv:ManualMappingCuration
MONDO:0018773	autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	oboInOwl:hasDbXref	Orphanet:476093	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	semapv:ManualMappingCuration
MONDO:0018775	obsolete axonal hereditary motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:476109	Axonal hereditary motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0018776	demyelinating hereditary motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:476116	Demyelinating hereditary motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0018777	autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	oboInOwl:hasDbXref	Orphanet:476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	semapv:ManualMappingCuration
MONDO:0018778	intermediate Charcot-Marie-Tooth disease	oboInOwl:hasDbXref	Orphanet:476123	Intermediate Charcot-Marie-Tooth disease	semapv:ManualMappingCuration
MONDO:0018779	obsolete hypercontractile muscle stiffness syndrome	oboInOwl:hasDbXref	Orphanet:476403	Hypercontractile muscle stiffness syndrome	semapv:ManualMappingCuration
MONDO:0018780	congenital generalized hypercontractile muscle stiffness syndrome	oboInOwl:hasDbXref	Orphanet:476406	Congenital generalized hypercontractile muscle stiffness syndrome	semapv:ManualMappingCuration
MONDO:0018781	KID syndrome	oboInOwl:hasDbXref	Orphanet:477	KID syndrome	semapv:ManualMappingCuration
MONDO:0018783	fibroblastic rheumatism	oboInOwl:hasDbXref	Orphanet:477650	Fibroblastic rheumatism	semapv:ManualMappingCuration
MONDO:0018784	pediatric multiple sclerosis	oboInOwl:hasDbXref	Orphanet:477738	Pediatric multiple sclerosis	semapv:ManualMappingCuration
MONDO:0018787	obsolete genetic cerebral small vessel disease	oboInOwl:hasDbXref	Orphanet:477754	Genetic cerebral small vessel disease	semapv:ManualMappingCuration
MONDO:0018788	obsolete COL4A1 or COL4A2-related cerebral small vessel disease	oboInOwl:hasDbXref	Orphanet:477759	COL4A1 or COL4A2-related cerebral small vessel disease	semapv:ManualMappingCuration
MONDO:0018789	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency	oboInOwl:hasDbXref	Orphanet:477762	COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency	semapv:ManualMappingCuration
MONDO:0018790	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency	oboInOwl:hasDbXref	Orphanet:477765	COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency	semapv:ManualMappingCuration
MONDO:0018791	obsolete Moyomoya angiopathy	oboInOwl:hasDbXref	Orphanet:477768	Moyamoya angiopathy	semapv:ManualMappingCuration
MONDO:0018792	obsolete Moyamoya syndrome	oboInOwl:hasDbXref	Orphanet:477771	Rare disorder with a moyamoya angiopathy	semapv:ManualMappingCuration
MONDO:0018793	primary condylar hyperplasia	oboInOwl:hasDbXref	Orphanet:477781	Primary condylar hyperplasia	semapv:ManualMappingCuration
MONDO:0018794	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	oboInOwl:hasDbXref	Orphanet:477787	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	semapv:ManualMappingCuration
MONDO:0018795	syndromic constitutional thrombocytopenia	oboInOwl:hasDbXref	Orphanet:477794	Syndromic constitutional thrombocytopenia	semapv:ManualMappingCuration
MONDO:0018796	obsolete isolated constitutional thrombocytopenia	oboInOwl:hasDbXref	Orphanet:477797	Isolated constitutional thrombocytopenia	semapv:ManualMappingCuration
MONDO:0018797	obsolete genetic cardiac malformation	oboInOwl:hasDbXref	Orphanet:477805	Genetic cardiac malformation	semapv:ManualMappingCuration
MONDO:0018798	obsolete other genetic dermis disorder	oboInOwl:hasDbXref	Orphanet:477808	Other genetic dermis disorder	semapv:ManualMappingCuration
MONDO:0018799	obsolete rare hypercholesterolemia	oboInOwl:hasDbXref	Orphanet:477811	Rare hypercholesterolemia	semapv:ManualMappingCuration
MONDO:0018800	Kallmann syndrome	oboInOwl:hasDbXref	Orphanet:478	Kallmann syndrome	semapv:ManualMappingCuration
MONDO:0018801	congenital bilateral absence of vas deferens	oboInOwl:hasDbXref	Orphanet:48	Congenital bilateral absence of vas deferens	semapv:ManualMappingCuration
MONDO:0018804	MYO5B-related progressive familial intrahepatic cholestasis	oboInOwl:hasDbXref	Orphanet:480491	MYO5B-related progressive familial intrahepatic cholestasis	semapv:ManualMappingCuration
MONDO:0018805	bile duct cyst	oboInOwl:hasDbXref	Orphanet:480501	Choledochal cyst	semapv:ManualMappingCuration
MONDO:0018806	primary intrahepatic lithiasis	oboInOwl:hasDbXref	Orphanet:480506	Primary intrahepatic lithiasis	semapv:ManualMappingCuration
MONDO:0018807	idiopathic ductopenia	oboInOwl:hasDbXref	Orphanet:480512	Idiopathic ductopenia	semapv:ManualMappingCuration
MONDO:0018808	Caroli syndrome	oboInOwl:hasDbXref	Orphanet:480520	Caroli syndrome	semapv:ManualMappingCuration
MONDO:0018809	idiopathic peliosis hepatis	oboInOwl:hasDbXref	Orphanet:480524	Idiopathic peliosis hepatis	semapv:ManualMappingCuration
MONDO:0018810	lethal hydranencephaly-diaphragmatic hernia syndrome	oboInOwl:hasDbXref	Orphanet:480528	Lethal hydranencephaly-diaphragmatic hernia syndrome	semapv:ManualMappingCuration
MONDO:0018811	congenital portosystemic shunt	oboInOwl:hasDbXref	Orphanet:480531	Congenital portosystemic shunt	semapv:ManualMappingCuration
MONDO:0018813	high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	oboInOwl:hasDbXref	Orphanet:480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	semapv:ManualMappingCuration
MONDO:0018814	non-SCID combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:480549	Non-severe combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0018815	aneurysmal bone cyst	oboInOwl:hasDbXref	Orphanet:480553	Aneurysmal bone cyst	semapv:ManualMappingCuration
MONDO:0018816	isolated neonatal sclerosing cholangitis	oboInOwl:hasDbXref	Orphanet:480556	Isolated neonatal sclerosing cholangitis	semapv:ManualMappingCuration
MONDO:0018818	facial diplegia with paresthesias	oboInOwl:hasDbXref	Orphanet:480701	Facial diplegia with paresthesias	semapv:ManualMappingCuration
MONDO:0018820	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0018821	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	oboInOwl:hasDbXref	Orphanet:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	semapv:ManualMappingCuration
MONDO:0018822	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	oboInOwl:hasDbXref	Orphanet:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	semapv:ManualMappingCuration
MONDO:0018823	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	oboInOwl:hasDbXref	Orphanet:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	semapv:ManualMappingCuration
MONDO:0018824	pyoderma gangrenosum	oboInOwl:hasDbXref	Orphanet:48104	Pyoderma gangrenosum	semapv:ManualMappingCuration
MONDO:0018825	PYCR2-related microcephaly-progressive leukoencephalopathy	oboInOwl:hasDbXref	Orphanet:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0018826	Lewis-Sumner syndrome	oboInOwl:hasDbXref	Orphanet:48162	Lewis-Sumner syndrome	semapv:ManualMappingCuration
MONDO:0018827	familial chilblain lupus	oboInOwl:hasDbXref	Orphanet:481662	Familial Chilblain lupus	semapv:ManualMappingCuration
MONDO:0018828	pseudo-TORCH syndrome 2	oboInOwl:hasDbXref	Orphanet:481665	USP18 deficiency	semapv:ManualMappingCuration
MONDO:0018829	familial schizencephaly	oboInOwl:hasDbXref	Orphanet:481986	Familial schizencephaly	semapv:ManualMappingCuration
MONDO:0018830	Kimura disease	oboInOwl:hasDbXref	Orphanet:482	Kimura disease	semapv:ManualMappingCuration
MONDO:0018831	obsolete HTRA1-related cerebral small vessel disease	oboInOwl:hasDbXref	Orphanet:482072	HTRA1-related cerebral small vessel disease	semapv:ManualMappingCuration
MONDO:0018832	HTRA1-related autosomal dominant cerebral small vessel disease	oboInOwl:hasDbXref	Orphanet:482077	HTRA1-related autosomal dominant cerebral small vessel disease	semapv:ManualMappingCuration
MONDO:0018833	obsolete rare idiopathic macular telangiectasia	oboInOwl:hasDbXref	Orphanet:482092	Rare idiopathic macular telangiectasia	semapv:ManualMappingCuration
MONDO:0018835	nodular regenerative hyperplasia of the liver	oboInOwl:hasDbXref	Orphanet:48372	Nodular regenerative hyperplasia of the liver	semapv:ManualMappingCuration
MONDO:0018837	postinfectious vasculitis	oboInOwl:hasDbXref	Orphanet:48435	Postinfectious vasculitis	semapv:ManualMappingCuration
MONDO:0018838	lissencephaly spectrum disorders	oboInOwl:hasDbXref	Orphanet:48471	Lissencephaly	semapv:ManualMappingCuration
MONDO:0018839	acquired schizencephaly	oboInOwl:hasDbXref	Orphanet:485275	Acquired schizencephaly	semapv:ManualMappingCuration
MONDO:0018840	isolated congenital hepatic fibrosis	oboInOwl:hasDbXref	Orphanet:485426	Isolated congenital hepatic fibrosis	semapv:ManualMappingCuration
MONDO:0018841	congenital bile acid synthesis defect	oboInOwl:hasDbXref	Orphanet:485631	Congenital bile acid synthesis defect	semapv:ManualMappingCuration
MONDO:0018842	primary effusion lymphoma	oboInOwl:hasDbXref	Orphanet:48686	Primary effusion lymphoma	semapv:ManualMappingCuration
MONDO:0018843	embryonal carcinoma of the central nervous system	oboInOwl:hasDbXref	Orphanet:48736	Embryonal carcinoma of the central nervous system	semapv:ManualMappingCuration
MONDO:0018844	urachal cyst	oboInOwl:hasDbXref	Orphanet:488	Urachal cyst	semapv:ManualMappingCuration
MONDO:0018845	focal myositis	oboInOwl:hasDbXref	Orphanet:48918	Focal myositis	semapv:ManualMappingCuration
MONDO:0018846	penile agenesis	oboInOwl:hasDbXref	Orphanet:49	Penile agenesis	semapv:ManualMappingCuration
MONDO:0018847	omphalomesenteric cyst	oboInOwl:hasDbXref	Orphanet:490	Omphalomesenteric cyst	semapv:ManualMappingCuration
MONDO:0018848	IgG4-related retroperitoneal fibrosis	oboInOwl:hasDbXref	Orphanet:49041	IgG4-related retroperitoneal fibrosis	semapv:ManualMappingCuration
MONDO:0018849	dentinogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:49042	Dentinogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0018850	proliferating trichilemmal cyst	oboInOwl:hasDbXref	Orphanet:492	Proliferating trichilemmal cyst	semapv:ManualMappingCuration
MONDO:0018851	familial keratoacanthoma	oboInOwl:hasDbXref	Orphanet:493	Familial keratoacanthoma	semapv:ManualMappingCuration
MONDO:0018852	achromatopsia	oboInOwl:hasDbXref	Orphanet:49382	Achromatopsia	semapv:ManualMappingCuration
MONDO:0018853	transgrediens et progrediens palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:495	Transgrediens et progrediens palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0018854	acquired purpura fulminans	oboInOwl:hasDbXref	Orphanet:49566	Acquired purpura fulminans	semapv:ManualMappingCuration
MONDO:0018855	keratosis pilaris atrophicans	oboInOwl:hasDbXref	Orphanet:498	Keratosis pilaris atrophicans	semapv:ManualMappingCuration
MONDO:0018856	lichen amyloidosis	oboInOwl:hasDbXref	Orphanet:49804	Lichen amyloidosis	semapv:ManualMappingCuration
MONDO:0018857	creeping myiasis	oboInOwl:hasDbXref	Orphanet:504	Creeping myiasis	semapv:ManualMappingCuration
MONDO:0018858	Graham Little-Piccardi-Lassueur syndrome	oboInOwl:hasDbXref	Orphanet:505	Graham Little-Piccardi-Lassueur syndrome	semapv:ManualMappingCuration
MONDO:0018860	microlissencephaly-micromelia syndrome	oboInOwl:hasDbXref	Orphanet:50810	Microlissencephaly-micromelia syndrome	semapv:ManualMappingCuration
MONDO:0018861	Zellweger-like syndrome without peroxisomal anomalies	oboInOwl:hasDbXref	Orphanet:50812	Zellweger-like syndrome without peroxisomal anomalies	semapv:ManualMappingCuration
MONDO:0018864	Kikuchi-Fujimoto disease	oboInOwl:hasDbXref	Orphanet:50918	Kikuchi-Fujimoto disease	semapv:ManualMappingCuration
MONDO:0018865	striate palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:50942	Striate palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0018866	Aicardi-Goutieres syndrome	oboInOwl:hasDbXref	Orphanet:51	Aicardi-Goutières syndrome	semapv:ManualMappingCuration
MONDO:0018868	metachromatic leukodystrophy	oboInOwl:hasDbXref	Orphanet:512	Metachromatic leukodystrophy	semapv:ManualMappingCuration
MONDO:0018869	cobblestone lissencephaly	oboInOwl:hasDbXref	Orphanet:51577	Cobblestone lissencephaly	semapv:ManualMappingCuration
MONDO:0018870	arterial calcification of infancy	oboInOwl:hasDbXref	Orphanet:51608	Generalized arterial calcification of infancy	semapv:ManualMappingCuration
MONDO:0018871	acute myelomonocytic leukemia M4	oboInOwl:hasDbXref	Orphanet:517	Acute myelomonocytic leukemia	semapv:ManualMappingCuration
MONDO:0018872	acute megakaryoblastic leukemia	oboInOwl:hasDbXref	Orphanet:518	Acute megakaryoblastic leukemia	semapv:ManualMappingCuration
MONDO:0018873	anterior cutaneous nerve entrapment syndrome	oboInOwl:hasDbXref	Orphanet:51890	Anterior cutaneous nerve entrapment syndrome	semapv:ManualMappingCuration
MONDO:0018874	acute myeloid leukemia	oboInOwl:hasDbXref	Orphanet:519	Acute myeloid leukemia	semapv:ManualMappingCuration
MONDO:0018875	Li-Fraumeni syndrome	oboInOwl:hasDbXref	Orphanet:524	Li-Fraumeni syndrome	semapv:ManualMappingCuration
MONDO:0018876	mantle cell lymphoma	oboInOwl:hasDbXref	Orphanet:52416	Mantle cell lymphoma	semapv:ManualMappingCuration
MONDO:0018877	retinitis punctata albescens	oboInOwl:hasDbXref	Orphanet:52427	Retinitis punctata albescens	semapv:ManualMappingCuration
MONDO:0018878	branchiootic syndrome	oboInOwl:hasDbXref	Orphanet:52429	Branchiootic syndrome	semapv:ManualMappingCuration
MONDO:0018879	lichen planopilaris	oboInOwl:hasDbXref	Orphanet:525	Lichen planopilaris	semapv:ManualMappingCuration
MONDO:0018880	obsolete rare teratologic disease	oboInOwl:hasDbXref	Orphanet:52662	Rare teratologic disease	semapv:ManualMappingCuration
MONDO:0018881	myelodysplastic syndrome	oboInOwl:hasDbXref	Orphanet:52688	Myelodysplastic syndrome	semapv:ManualMappingCuration
MONDO:0018882	vasculitis	oboInOwl:hasDbXref	Orphanet:52759	Vasculitis	semapv:ManualMappingCuration
MONDO:0018883	Berardinelli-Seip congenital lipodystrophy	oboInOwl:hasDbXref	Orphanet:528	Congenital generalized lipodystrophy	semapv:ManualMappingCuration
MONDO:0018884	Roch-Leri mesosomatous lipomatosis	oboInOwl:hasDbXref	Orphanet:529	Roch-Leri mesosomatous lipomatosis	semapv:ManualMappingCuration
MONDO:0018885	orbital leiomyoma	oboInOwl:hasDbXref	Orphanet:52994	Orbital leiomyoma	semapv:ManualMappingCuration
MONDO:0018887	obsolete rare cutaneous lupus erythematosus	oboInOwl:hasDbXref	Orphanet:535	Rare cutaneous lupus erythematosus	semapv:ManualMappingCuration
MONDO:0018889	hyaline body myopathy	oboInOwl:hasDbXref	Orphanet:53698	Myosin storage myopathy	semapv:ManualMappingCuration
MONDO:0018890	Lyell syndrome	oboInOwl:hasDbXref	Orphanet:537	Toxic epidermal necrolysis	semapv:ManualMappingCuration
MONDO:0018891	familial tumoral calcinosis	oboInOwl:hasDbXref	Orphanet:53715	Familial tumoral calcinosis	semapv:ManualMappingCuration
MONDO:0018892	Wyburn-Mason syndrome	oboInOwl:hasDbXref	Orphanet:53719	Wyburn-Mason syndrome	semapv:ManualMappingCuration
MONDO:0018893	Cobb syndrome	oboInOwl:hasDbXref	Orphanet:53721	Spinal arteriovenous metameric syndrome	semapv:ManualMappingCuration
MONDO:0018894	distal hereditary motor neuropathy	oboInOwl:hasDbXref	Orphanet:53739	Distal hereditary motor neuropathy	semapv:ManualMappingCuration
MONDO:0018895	Plummer-Vinson syndrome	oboInOwl:hasDbXref	Orphanet:54028	Plummer-Vinson syndrome	semapv:ManualMappingCuration
MONDO:0018896	thrombotic thrombocytopenic purpura	oboInOwl:hasDbXref	Orphanet:54057	Thrombotic thrombocytopenic purpura	semapv:ManualMappingCuration
MONDO:0018897	primary cutaneous CD30+ T-cell lymphoproliferative disease	oboInOwl:hasDbXref	Orphanet:541	Primary cutaneous CD30+ T-cell lymphoproliferative disease	semapv:ManualMappingCuration
MONDO:0018898	primary cutaneous lymphoma	oboInOwl:hasDbXref	Orphanet:542	Primary cutaneous lymphoma	semapv:ManualMappingCuration
MONDO:0018899	posterior cortical atrophy	oboInOwl:hasDbXref	Orphanet:54247	Posterior cortical atrophy	semapv:ManualMappingCuration
MONDO:0018900	corticosteroid-sensitive aseptic abscess syndrome	oboInOwl:hasDbXref	Orphanet:54251	Aseptic abscess syndrome	semapv:ManualMappingCuration
MONDO:0018901	left ventricular noncompaction	oboInOwl:hasDbXref	Orphanet:54260	Left ventricular noncompaction	semapv:ManualMappingCuration
MONDO:0018902	hepatocellular adenoma	oboInOwl:hasDbXref	Orphanet:54272	Hepatocellular adenoma	semapv:ManualMappingCuration
MONDO:0018903	sarcocystosis	oboInOwl:hasDbXref	Orphanet:54368	Sarcocystosis	semapv:ManualMappingCuration
MONDO:0018904	primary membranoproliferative glomerulonephritis	oboInOwl:hasDbXref	Orphanet:54370	Primary membranoproliferative glomerulonephritis	semapv:ManualMappingCuration
MONDO:0018905	diffuse large B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:544	Diffuse large B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0018906	follicular lymphoma	oboInOwl:hasDbXref	Orphanet:545	Follicular lymphoma	semapv:ManualMappingCuration
MONDO:0018907	craniopharyngioma	oboInOwl:hasDbXref	Orphanet:54595	Craniopharyngioma	semapv:ManualMappingCuration
MONDO:0018908	non-Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:547	Non-Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0018910	oculocutaneous albinism	oboInOwl:hasDbXref	Orphanet:55	Oculocutaneous albinism	semapv:ManualMappingCuration
MONDO:0018911	maturity-onset diabetes of the young	oboInOwl:hasDbXref	Orphanet:552	MODY	semapv:ManualMappingCuration
MONDO:0018912	Cushing syndrome	oboInOwl:hasDbXref	Orphanet:553	OBSOLETE: Cushing syndrome	semapv:ManualMappingCuration
MONDO:0018913	malakoplakia	oboInOwl:hasDbXref	Orphanet:556	Malakoplakia	semapv:ManualMappingCuration
MONDO:0018914	hypotrichosis simplex	oboInOwl:hasDbXref	Orphanet:55654	Hypotrichosis simplex	semapv:ManualMappingCuration
MONDO:0018916	obsolete isolated anorectal malformation	oboInOwl:hasDbXref	Orphanet:557	Non-syndromic anorectal malformation	semapv:ManualMappingCuration
MONDO:0018918	carcinoma of gallbladder and extrahepatic biliary tract	oboInOwl:hasDbXref	Orphanet:56044	Carcinoma of gallbladder and extrahepatic biliary tract	semapv:ManualMappingCuration
MONDO:0018919	McCune-Albright syndrome	oboInOwl:hasDbXref	Orphanet:562	McCune-Albright syndrome	semapv:ManualMappingCuration
MONDO:0018920	peripartum cardiomyopathy	oboInOwl:hasDbXref	Orphanet:563	Peripartum cardiomyopathy	semapv:ManualMappingCuration
MONDO:0018921	Meckel syndrome	oboInOwl:hasDbXref	Orphanet:564	Meckel syndrome	semapv:ManualMappingCuration
MONDO:0018922	cold agglutinin disease	oboInOwl:hasDbXref	Orphanet:56425	Cold agglutinin disease	semapv:ManualMappingCuration
MONDO:0018923	22q11.2 deletion syndrome	oboInOwl:hasDbXref	Orphanet:567	22q11.2 deletion syndrome	semapv:ManualMappingCuration
MONDO:0018924	microphthalmia, Lenz type	oboInOwl:hasDbXref	Orphanet:568	Microphthalmia, Lenz type	semapv:ManualMappingCuration
MONDO:0018925	familial or sporadic hemiplegic migraine	oboInOwl:hasDbXref	Orphanet:569	Familial or sporadic hemiplegic migraine	semapv:ManualMappingCuration
MONDO:0018926	human prion disease	oboInOwl:hasDbXref	Orphanet:56970	Human prion disease	semapv:ManualMappingCuration
MONDO:0018927	SUNCT syndrome	oboInOwl:hasDbXref	Orphanet:57145	SUNCT syndrome	semapv:ManualMappingCuration
MONDO:0018928	obsolete rare hepatic disease	oboInOwl:hasDbXref	Orphanet:57146	Rare hepatic disease	semapv:ManualMappingCuration
MONDO:0018929	medial condensing osteitis of the clavicle	oboInOwl:hasDbXref	Orphanet:57196	Medial condensing osteitis of the clavicle	semapv:ManualMappingCuration
MONDO:0018930	monosomy 21	oboInOwl:hasDbXref	Orphanet:574	21q deletion syndrome	semapv:ManualMappingCuration
MONDO:0018931	mucolipidosis type III, alpha/beta	oboInOwl:hasDbXref	Orphanet:423461	Mucolipidosis type III alpha/beta	semapv:ManualMappingCuration
MONDO:0018931	mucolipidosis type III, alpha/beta	oboInOwl:hasDbXref	Orphanet:577	Mucolipidosis type III	semapv:ManualMappingCuration
MONDO:0018932	cirrhotic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:57777	NON RARE IN EUROPE: Cirrhotic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0018933	Mazabraud syndrome	oboInOwl:hasDbXref	Orphanet:57782	Mazabraud syndrome	semapv:ManualMappingCuration
MONDO:0018935	hairy cell leukemia	oboInOwl:hasDbXref	Orphanet:58017	Classic hairy cell leukemia	semapv:ManualMappingCuration
MONDO:0018936	osteoblastoma	oboInOwl:hasDbXref	Orphanet:58040	Osteoblastoma	semapv:ManualMappingCuration
MONDO:0018937	mucopolysaccharidosis type 3	oboInOwl:hasDbXref	Orphanet:581	Mucopolysaccharidosis type 3	semapv:ManualMappingCuration
MONDO:0018938	mucopolysaccharidosis type 4	oboInOwl:hasDbXref	Orphanet:582	Mucopolysaccharidosis type 4	semapv:ManualMappingCuration
MONDO:0018939	muscle-eye-brain disease	oboInOwl:hasDbXref	Orphanet:588	Muscle-eye-brain disease	semapv:ManualMappingCuration
MONDO:0018940	congenital myasthenic syndrome	oboInOwl:hasDbXref	Orphanet:590	Congenital myasthenic syndrome	semapv:ManualMappingCuration
MONDO:0018941	furuncular myiasis	oboInOwl:hasDbXref	Orphanet:591	Furuncular myiasis	semapv:ManualMappingCuration
MONDO:0018942	macrophagic myofasciitis	oboInOwl:hasDbXref	Orphanet:592	Macrophagic myofasciitis	semapv:ManualMappingCuration
MONDO:0018943	myofibrillar myopathy	oboInOwl:hasDbXref	Orphanet:593	Myofibrillar myopathy	semapv:ManualMappingCuration
MONDO:0018944	gestational trophoblastic neoplasm	oboInOwl:hasDbXref	Orphanet:59305	Gestational trophoblastic neoplasm	semapv:ManualMappingCuration
MONDO:0018945	McLeod neuroacanthocytosis syndrome	oboInOwl:hasDbXref	Orphanet:59306	McLeod neuroacanthocytosis syndrome	semapv:ManualMappingCuration
MONDO:0018946	rhombencephalosynapsis	oboInOwl:hasDbXref	Orphanet:59315	Rhombencephalosynapsis	semapv:ManualMappingCuration
MONDO:0018947	centronuclear myopathy	oboInOwl:hasDbXref	Orphanet:595	Centronuclear myopathy	semapv:ManualMappingCuration
MONDO:0018948	multiminicore myopathy	oboInOwl:hasDbXref	Orphanet:598	Multiminicore myopathy	semapv:ManualMappingCuration
MONDO:0018949	distal myopathy	oboInOwl:hasDbXref	Orphanet:599	Distal myopathy	semapv:ManualMappingCuration
MONDO:0018950	3-methylcrotonyl-CoA carboxylase deficiency	oboInOwl:hasDbXref	Orphanet:6	3-methylcrotonyl-CoA carboxylase deficiency	semapv:ManualMappingCuration
MONDO:0018951	distal myopathy with vocal cord weakness	oboInOwl:hasDbXref	Orphanet:600	Vocal cord and pharyngeal distal myopathy	semapv:ManualMappingCuration
MONDO:0018952	argyria	oboInOwl:hasDbXref	Orphanet:60014	Argyria	semapv:ManualMappingCuration
MONDO:0018953	parietal foramina	oboInOwl:hasDbXref	Orphanet:60015	Enlarged parietal foramina	semapv:ManualMappingCuration
MONDO:0018954	Loeys-Dietz syndrome	oboInOwl:hasDbXref	Orphanet:60030	Loeys-Dietz syndrome	semapv:ManualMappingCuration
MONDO:0018955	recurrent respiratory papillomatosis	oboInOwl:hasDbXref	Orphanet:60032	Recurrent respiratory papillomatosis	semapv:ManualMappingCuration
MONDO:0018956	idiopathic bronchiectasis	oboInOwl:hasDbXref	Orphanet:60033	Idiopathic bronchiectasis	semapv:ManualMappingCuration
MONDO:0018957	pudendal neuralgia	oboInOwl:hasDbXref	Orphanet:60039	Pudendal nerve entrapment syndrome	semapv:ManualMappingCuration
MONDO:0018958	nemaline myopathy	oboInOwl:hasDbXref	Orphanet:607	Nemaline myopathy	semapv:ManualMappingCuration
MONDO:0018959	potassium-aggravated myotonia	oboInOwl:hasDbXref	Orphanet:612	Potassium-aggravated myotonia	semapv:ManualMappingCuration
MONDO:0018960	congenital primary megaureter	oboInOwl:hasDbXref	Orphanet:617	Congenital primary megaureter	semapv:ManualMappingCuration
MONDO:0018961	familial melanoma	oboInOwl:hasDbXref	Orphanet:618	Familial melanoma	semapv:ManualMappingCuration
MONDO:0018962	common mesentery	oboInOwl:hasDbXref	Orphanet:620	NON RARE IN EUROPE: Common mesentery	semapv:ManualMappingCuration
MONDO:0018963	hereditary methemoglobinemia	oboInOwl:hasDbXref	Orphanet:621	Hereditary methemoglobinemia	semapv:ManualMappingCuration
MONDO:0018964	homocystinuria without methylmalonic aciduria	oboInOwl:hasDbXref	Orphanet:622	Homocystinuria without methylmalonic aciduria	semapv:ManualMappingCuration
MONDO:0018965	Alport syndrome	oboInOwl:hasDbXref	Orphanet:63	Alport syndrome	semapv:ManualMappingCuration
MONDO:0018967	short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	oboInOwl:hasDbXref	Orphanet:632	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	semapv:ManualMappingCuration
MONDO:0018968	iniencephaly	oboInOwl:hasDbXref	Orphanet:63259	Iniencephaly	semapv:ManualMappingCuration
MONDO:0018969	craniorachischisis	oboInOwl:hasDbXref	Orphanet:63260	Craniorachischisis	semapv:ManualMappingCuration
MONDO:0018971	isolated oxycephaly	oboInOwl:hasDbXref	Orphanet:63440	OBSOLETE: Isolated oxycephaly	semapv:ManualMappingCuration
MONDO:0018972	obsolete rare epithelial tumor of stomach	oboInOwl:hasDbXref	Orphanet:63443	Rare epithelial tumor of stomach	semapv:ManualMappingCuration
MONDO:0018973	patterned dystrophy of the retinal pigment epithelium	oboInOwl:hasDbXref	Orphanet:63454	Pattern dystrophy	semapv:ManualMappingCuration
MONDO:0018974	paraneoplastic pemphigus	oboInOwl:hasDbXref	Orphanet:63455	Paraneoplastic pemphigus	semapv:ManualMappingCuration
MONDO:0018975	neurofibromatosis type 1	oboInOwl:hasDbXref	Orphanet:636	Neurofibromatosis type 1	semapv:ManualMappingCuration
MONDO:0018976	schisis association	oboInOwl:hasDbXref	Orphanet:63862	Schisis association	semapv:ManualMappingCuration
MONDO:0018977	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	oboInOwl:hasDbXref	Orphanet:639	Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG	semapv:ManualMappingCuration
MONDO:0018978	IgG4-related mediastinitis	oboInOwl:hasDbXref	Orphanet:63999	IgG4-related mediastinitis	semapv:ManualMappingCuration
MONDO:0018979	multifocal motor neuropathy	oboInOwl:hasDbXref	Orphanet:641	Multifocal motor neuropathy	semapv:ManualMappingCuration
MONDO:0018980	acrofacial dysostosis, Kennedy-Teebi type	oboInOwl:hasDbXref	Orphanet:64542	Acrofacial dysostosis, Kennedy-Teebi type	semapv:ManualMappingCuration
MONDO:0018981	benign idiopathic neonatal seizures	oboInOwl:hasDbXref	Orphanet:64545	Benign idiopathic neonatal seizures	semapv:ManualMappingCuration
MONDO:0018982	Niemann-Pick disease type C	oboInOwl:hasDbXref	Orphanet:646	Niemann-Pick disease type C	semapv:ManualMappingCuration
MONDO:0018983	Tolosa-Hunt syndrome	oboInOwl:hasDbXref	Orphanet:64686	Tolosa-Hunt syndrome	semapv:ManualMappingCuration
MONDO:0018984	Oroya fever	oboInOwl:hasDbXref	Orphanet:64692	Bartonella bacilliformis infection	semapv:ManualMappingCuration
MONDO:0018984	Oroya fever	oboInOwl:hasDbXref	Orphanet:659756	Oroya fever	semapv:ManualMappingCuration
MONDO:0018987	granulomatous mastitis	oboInOwl:hasDbXref	Orphanet:64722	Granulomatous mastitis	semapv:ManualMappingCuration
MONDO:0018988	iridocorneal endothelial syndrome	oboInOwl:hasDbXref	Orphanet:64734	Iridocorneal endothelial syndrome	semapv:ManualMappingCuration
MONDO:0018989	recurrent acute pancreatitis	oboInOwl:hasDbXref	Orphanet:64740	NON RARE IN EUROPE: Recurrent acute pancreatitis	semapv:ManualMappingCuration
MONDO:0018991	hepatoportal sclerosis	oboInOwl:hasDbXref	Orphanet:64743	Hepatoportal sclerosis	semapv:ManualMappingCuration
MONDO:0018992	IgG4-related thyroid disease	oboInOwl:hasDbXref	Orphanet:64744	IgG4-related thyroid disease	semapv:ManualMappingCuration
MONDO:0018993	Charcot-Marie-Tooth disease type 2	oboInOwl:hasDbXref	Orphanet:64746	Autosomal dominant Charcot-Marie-Tooth disease type 2	semapv:ManualMappingCuration
MONDO:0018994	Charcot-Marie-Tooth disease type X	oboInOwl:hasDbXref	Orphanet:64747	X-linked Charcot-Marie-Tooth disease	semapv:ManualMappingCuration
MONDO:0018995	Charcot-Marie-Tooth disease type 4	oboInOwl:hasDbXref	Orphanet:64749	Charcot-Marie-Tooth disease type 4	semapv:ManualMappingCuration
MONDO:0018996	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	oboInOwl:hasDbXref	Orphanet:64753	Spinocerebellar ataxia with axonal neuropathy type 2	semapv:ManualMappingCuration
MONDO:0018997	Noonan syndrome	oboInOwl:hasDbXref	Orphanet:648	Noonan syndrome	semapv:ManualMappingCuration
MONDO:0018998	Leber congenital amaurosis	oboInOwl:hasDbXref	Orphanet:65	Leber congenital amaurosis	semapv:ManualMappingCuration
MONDO:0018999	LCAT deficiency	oboInOwl:hasDbXref	Orphanet:650	LCAT deficiency	semapv:ManualMappingCuration
MONDO:0019000	perineural cyst	oboInOwl:hasDbXref	Orphanet:65250	NON RARE IN EUROPE: Perineural cyst	semapv:ManualMappingCuration
MONDO:0019002	Lhermitte-Duclos disease	oboInOwl:hasDbXref	Orphanet:65285	Lhermitte-Duclos disease	semapv:ManualMappingCuration
MONDO:0019003	multiple endocrine neoplasia type 2	oboInOwl:hasDbXref	Orphanet:653	Multiple endocrine neoplasia type 2	semapv:ManualMappingCuration
MONDO:0019004	kidney Wilms tumor	oboInOwl:hasDbXref	Orphanet:654	Nephroblastoma	semapv:ManualMappingCuration
MONDO:0019005	nephronophthisis	oboInOwl:hasDbXref	Orphanet:655	Nephronophthisis	semapv:ManualMappingCuration
MONDO:0019006	familial idiopathic steroid-resistant nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0019007	vaginal atresia	oboInOwl:hasDbXref	Orphanet:65681	Vaginal atresia	semapv:ManualMappingCuration
MONDO:0019008	benign recurrent intrahepatic cholestasis	oboInOwl:hasDbXref	Orphanet:65682	Benign recurrent intrahepatic cholestasis	semapv:ManualMappingCuration
MONDO:0019009	isolated focal cortical dysplasia	oboInOwl:hasDbXref	Orphanet:65683	Isolated focal cortical dysplasia	semapv:ManualMappingCuration
MONDO:0019010	congenital isolated hyperinsulinism	oboInOwl:hasDbXref	Orphanet:657	Congenital isolated hyperinsulinism	semapv:ManualMappingCuration
MONDO:0019011	Charcot-Marie-Tooth disease type 1	oboInOwl:hasDbXref	Orphanet:65753	Charcot-Marie-Tooth disease type 1	semapv:ManualMappingCuration
MONDO:0019012	Carpenter syndrome	oboInOwl:hasDbXref	Orphanet:65759	Carpenter syndrome	semapv:ManualMappingCuration
MONDO:0019013	non-histaminic angioedema	oboInOwl:hasDbXref	Orphanet:658	Non-histaminic angioedema	semapv:ManualMappingCuration
MONDO:0019015	omphalocele	oboInOwl:hasDbXref	Orphanet:660	Omphalocele	semapv:ManualMappingCuration
MONDO:0019016	maternally-inherited progressive external ophthalmoplegia	oboInOwl:hasDbXref	Orphanet:663	Mitochondrial DNA-related progressive external ophthalmoplegia	semapv:ManualMappingCuration
MONDO:0019017	short fifth metacarpals-insulin resistance syndrome	oboInOwl:hasDbXref	Orphanet:66518	Short fifth metacarpals-insulin resistance syndrome	semapv:ManualMappingCuration
MONDO:0019018	Tako-tsubo cardiomyopathy	oboInOwl:hasDbXref	Orphanet:66529	Tako-Tsubo cardiomyopathy	semapv:ManualMappingCuration
MONDO:0019019	osteogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:666	Osteogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0019020	PANDAS	oboInOwl:hasDbXref	Orphanet:66624	PANDAS	semapv:ManualMappingCuration
MONDO:0019022	sensorineural hearing loss-early graying-essential tremor syndrome	oboInOwl:hasDbXref	Orphanet:66633	Sensorineural hearing loss-early graying-essential tremor syndrome	semapv:ManualMappingCuration
MONDO:0019023	cutaneous mastocytosis	oboInOwl:hasDbXref	Orphanet:66646	Cutaneous mastocytosis	semapv:ManualMappingCuration
MONDO:0019024	mast cell sarcoma	oboInOwl:hasDbXref	Orphanet:66661	Mast cell sarcoma	semapv:ManualMappingCuration
MONDO:0019025	extracutaneous mastocytoma	oboInOwl:hasDbXref	Orphanet:66662	Extracutaneous mastocytoma	semapv:ManualMappingCuration
MONDO:0019026	autosomal recessive osteopetrosis	oboInOwl:hasDbXref	Orphanet:667	Autosomal recessive malignant osteopetrosis	semapv:ManualMappingCuration
MONDO:0019027	otopalatodigital syndrome	oboInOwl:hasDbXref	Orphanet:669	OBSOLETE: Otopalatodigital syndrome	semapv:ManualMappingCuration
MONDO:0019028	amoebiasis due to Entamoeba histolytica	oboInOwl:hasDbXref	Orphanet:67	Amoebiasis due to Entamoeba histolytica	semapv:ManualMappingCuration
MONDO:0019029	segmental odontomaxillary dysplasia	oboInOwl:hasDbXref	Orphanet:67039	Segmental odontomaxillary dysplasia	semapv:ManualMappingCuration
MONDO:0019031	thrombocytopenia with congenital dyserythropoietic anemia	oboInOwl:hasDbXref	Orphanet:67044	Thrombocytopenia with congenital dyserythropoietic anemia	semapv:ManualMappingCuration
MONDO:0019032	X-linked intellectual disability with isolated growth hormone deficiency	oboInOwl:hasDbXref	Orphanet:67045	X-linked intellectual disability with isolated growth hormone deficiency	semapv:ManualMappingCuration
MONDO:0019033	primary cutis verticis gyrata	oboInOwl:hasDbXref	Orphanet:671	Primary cutis verticis gyrata	semapv:ManualMappingCuration
MONDO:0019034	accessory pancreas	oboInOwl:hasDbXref	Orphanet:674	Accessory pancreas	semapv:ManualMappingCuration
MONDO:0019035	pancreatoblastoma	oboInOwl:hasDbXref	Orphanet:677	Pancreatoblastoma	semapv:ManualMappingCuration
MONDO:0019036	amoebiasis due to free-living amoebae	oboInOwl:hasDbXref	Orphanet:68	Amoebiasis due to free-living amoebae	semapv:ManualMappingCuration
MONDO:0019037	progressive supranuclear palsy	oboInOwl:hasDbXref	Orphanet:683	Progressive supranuclear palsy	semapv:ManualMappingCuration
MONDO:0019038	obsolete rare maxillo-facial surgical disease	oboInOwl:hasDbXref	Orphanet:68329	Rare maxillo-facial surgical disease	semapv:ManualMappingCuration
MONDO:0019039	obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect	oboInOwl:hasDbXref	Orphanet:68334	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	semapv:ManualMappingCuration
MONDO:0019040	chromosomal disorder	oboInOwl:hasDbXref	Orphanet:68335	Rare chromosomal anomaly	semapv:ManualMappingCuration
MONDO:0019041	obsolete rare genetic inherited tumor	oboInOwl:hasDbXref	Orphanet:68336	Rare genetic tumor	semapv:ManualMappingCuration
MONDO:0019042	multiple congenital anomalies/dysmorphic syndrome	oboInOwl:hasDbXref	Orphanet:68341	Multiple congenital anomalies/dysmorphic syndrome	semapv:ManualMappingCuration
MONDO:0019043	obsolete rare genetic skin disease	oboInOwl:hasDbXref	Orphanet:68346	Rare genetic skin disease	semapv:ManualMappingCuration
MONDO:0019044	obsolete tumor of hematopoietic and lymphoid tissues	oboInOwl:hasDbXref	Orphanet:68347	Tumor of hematopoietic and lymphoid tissues	semapv:ManualMappingCuration
MONDO:0019045	obsolete rare sleep disorder	oboInOwl:hasDbXref	Orphanet:68354	Rare sleep disorder	semapv:ManualMappingCuration
MONDO:0019046	leukodystrophy	oboInOwl:hasDbXref	Orphanet:68356	Leukodystrophy	semapv:ManualMappingCuration
MONDO:0019047	obsolete rare deafness	oboInOwl:hasDbXref	Orphanet:68361	Rare deafness	semapv:ManualMappingCuration
MONDO:0019048	obsolete rare vascular disease	oboInOwl:hasDbXref	Orphanet:68362	Rare vascular disease	semapv:ManualMappingCuration
MONDO:0019049	obsolete rare dystonia	oboInOwl:hasDbXref	Orphanet:68363	Rare dystonia	semapv:ManualMappingCuration
MONDO:0019050	inherited hemoglobinopathy	oboInOwl:hasDbXref	Orphanet:68364	Hemoglobinopathy	semapv:ManualMappingCuration
MONDO:0019052	inborn errors of metabolism	oboInOwl:hasDbXref	Orphanet:68367	Rare inborn errors of metabolism	semapv:ManualMappingCuration
MONDO:0019053	peroxisomal disease	oboInOwl:hasDbXref	Orphanet:68373	Peroxisomal disease	semapv:ManualMappingCuration
MONDO:0019054	congenital limb malformation	oboInOwl:hasDbXref	Orphanet:68378	Congenital limb malformation	semapv:ManualMappingCuration
MONDO:0019056	neuromuscular disease	oboInOwl:hasDbXref	Orphanet:68381	Neuromuscular disease	semapv:ManualMappingCuration
MONDO:0019058	obsolete neurometabolic disease	oboInOwl:hasDbXref	Orphanet:68385	Neurometabolic disease	semapv:ManualMappingCuration
MONDO:0019059	obsolete rare parkinsonian disorder	oboInOwl:hasDbXref	Orphanet:68402	Rare parkinsonian disorder	semapv:ManualMappingCuration
MONDO:0019060	bone neoplasm	oboInOwl:hasDbXref	Orphanet:68411	Rare bone tumor	semapv:ManualMappingCuration
MONDO:0019061	obsolete rare parathyroid disease and phosphocalcic metabolism anomaly	oboInOwl:hasDbXref	Orphanet:68415	Rare parathyroid disease and phosphocalcic metabolism anomaly	semapv:ManualMappingCuration
MONDO:0019062	obsolete rare infectious disease	oboInOwl:hasDbXref	Orphanet:68416	Rare infectious disease	semapv:ManualMappingCuration
MONDO:0019063	obsolete vascular anomaly	oboInOwl:hasDbXref	Orphanet:68419	Rare vascular anomaly	semapv:ManualMappingCuration
MONDO:0019064	hereditary spastic paraplegia	oboInOwl:hasDbXref	Orphanet:685	Hereditary spastic paraplegia	semapv:ManualMappingCuration
MONDO:0019065	amyloidosis	oboInOwl:hasDbXref	Orphanet:69	Amyloidosis	semapv:ManualMappingCuration
MONDO:0019066	obsolete syndrome with brachydactyly	oboInOwl:hasDbXref	Orphanet:69028	Dysostosis with brachydactyly	semapv:ManualMappingCuration
MONDO:0019067	idiopathic steroid-sensitive nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:69061	Idiopathic steroid-sensitive nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0019068	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	oboInOwl:hasDbXref	Orphanet:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	semapv:ManualMappingCuration
MONDO:0019071	pure hair and nail ectodermal dysplasia	oboInOwl:hasDbXref	Orphanet:69084	Pure hair and nail ectodermal dysplasia	semapv:ManualMappingCuration
MONDO:0019074	bilateral acute depigmentation of the iris	oboInOwl:hasDbXref	Orphanet:69736	Bilateral acute depigmentation of the iris	semapv:ManualMappingCuration
MONDO:0019075	Bosley-Salih-Alorainy syndrome	oboInOwl:hasDbXref	Orphanet:69737	Bosley-Salih-Alorainy syndrome	semapv:ManualMappingCuration
MONDO:0019076	circumscribed palmoplantar hypokeratosis	oboInOwl:hasDbXref	Orphanet:69744	Circumscribed palmoplantar hypokeratosis	semapv:ManualMappingCuration
MONDO:0019077	warty dyskeratoma	oboInOwl:hasDbXref	Orphanet:69745	Warty dyskeratoma	semapv:ManualMappingCuration
MONDO:0019078	Ritscher-Schinzel syndrome	oboInOwl:hasDbXref	Orphanet:7	3C syndrome	semapv:ManualMappingCuration
MONDO:0019079	proximal spinal muscular atrophy	oboInOwl:hasDbXref	Orphanet:70	Proximal spinal muscular atrophy	semapv:ManualMappingCuration
MONDO:0019080	alopecia totalis	oboInOwl:hasDbXref	Orphanet:700	Alopecia totalis	semapv:ManualMappingCuration
MONDO:0019082	bullous pemphigoid	oboInOwl:hasDbXref	Orphanet:703	Bullous pemphigoid	semapv:ManualMappingCuration
MONDO:0019083	Leigh syndrome with cardiomyopathy	oboInOwl:hasDbXref	Orphanet:70474	Leigh syndrome with cardiomyopathy	semapv:ManualMappingCuration
MONDO:0019084	radiation proctitis	oboInOwl:hasDbXref	Orphanet:70475	Radiation proctitis	semapv:ManualMappingCuration
MONDO:0019085	vernal keratoconjunctivitis	oboInOwl:hasDbXref	Orphanet:70476	Vernal keratoconjunctivitis	semapv:ManualMappingCuration
MONDO:0019086	carcinoma of esophagus	oboInOwl:hasDbXref	Orphanet:70482	Carcinoma of esophagus	semapv:ManualMappingCuration
MONDO:0019087	cholangiocarcinoma	oboInOwl:hasDbXref	Orphanet:70567	Cholangiocarcinoma	semapv:ManualMappingCuration
MONDO:0019088	post-transplant lymphoproliferative disease	oboInOwl:hasDbXref	Orphanet:70568	Post-transplant lymphoproliferative disease	semapv:ManualMappingCuration
MONDO:0019091	bronchopulmonary dysplasia	oboInOwl:hasDbXref	Orphanet:70589	Bronchopulmonary dysplasia	semapv:ManualMappingCuration
MONDO:0019092	infantile apnea	oboInOwl:hasDbXref	Orphanet:70590	Infantile apnea	semapv:ManualMappingCuration
MONDO:0019093	immunodeficiency due to selective anti-polysaccharide antibody deficiency	oboInOwl:hasDbXref	Orphanet:70593	Immunodeficiency due to selective anti-polysaccharide antibody deficiency	semapv:ManualMappingCuration
MONDO:0019094	congenital Epstein-Barr virus infection	oboInOwl:hasDbXref	Orphanet:70596	Congenital Epstein-Barr virus infection	semapv:ManualMappingCuration
MONDO:0019095	plague	oboInOwl:hasDbXref	Orphanet:707	Plague	semapv:ManualMappingCuration
MONDO:0019096	obsolete rare pulmonary hypertension	oboInOwl:hasDbXref	Orphanet:71198	Rare pulmonary hypertension	semapv:ManualMappingCuration
MONDO:0019097	obsolete hemorrhagic disorder due to a constitutional platelet anomaly	oboInOwl:hasDbXref	Orphanet:71202	Rare hemorrhagic disorder due to a constitutional platelet anomaly	semapv:ManualMappingCuration
MONDO:0019098	autoimmune thrombocytopenia	oboInOwl:hasDbXref	Orphanet:71203	Autoimmune thrombocytopenia	semapv:ManualMappingCuration
MONDO:0019099	obsolete rare soft tissue tumor	oboInOwl:hasDbXref	Orphanet:71209	Rare soft tissue tumor	semapv:ManualMappingCuration
MONDO:0019100	neuromyelitis optica	oboInOwl:hasDbXref	Orphanet:71211	Neuromyelitis optica spectrum disorder	semapv:ManualMappingCuration
MONDO:0019101	retinal capillary malformation	oboInOwl:hasDbXref	Orphanet:71213	Retinal capillary malformation	semapv:ManualMappingCuration
MONDO:0019102	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:71267	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0019103	benign exophthalmos syndrome	oboInOwl:hasDbXref	Orphanet:71269	OBSOLETE: Benign exophthalmos syndrome	semapv:ManualMappingCuration
MONDO:0019104	Sandifer syndrome	oboInOwl:hasDbXref	Orphanet:71272	Sandifer syndrome	semapv:ManualMappingCuration
MONDO:0019105	renal nutcracker syndrome	oboInOwl:hasDbXref	Orphanet:71273	Renal nutcracker syndrome	semapv:ManualMappingCuration
MONDO:0019107	Rh deficiency syndrome	oboInOwl:hasDbXref	Orphanet:71275	Rh deficiency syndrome	semapv:ManualMappingCuration
MONDO:0019108	silent sinus syndrome	oboInOwl:hasDbXref	Orphanet:71276	Silent sinus syndrome	semapv:ManualMappingCuration
MONDO:0019109	CANOMAD syndrome	oboInOwl:hasDbXref	Orphanet:71279	CANOMAD syndrome	semapv:ManualMappingCuration
MONDO:0019110	obsolete rare central nervous system or retinal vascular disease	oboInOwl:hasDbXref	Orphanet:71281	Rare central nervous system and retinal vascular disease	semapv:ManualMappingCuration
MONDO:0019111	familial thrombocytosis	oboInOwl:hasDbXref	Orphanet:71493	Familial thrombocytosis	semapv:ManualMappingCuration
MONDO:0019112	cancer-associated retinopathy	oboInOwl:hasDbXref	Orphanet:71505	Cancer-associated retinopathy	semapv:ManualMappingCuration
MONDO:0019113	benign paroxysmal torticollis of infancy	oboInOwl:hasDbXref	Orphanet:71518	Benign paroxysmal torticollis of infancy	semapv:ManualMappingCuration
MONDO:0019114	psychogenic movement disorders	oboInOwl:hasDbXref	Orphanet:71519	Psychogenic movement disorders	semapv:ManualMappingCuration
MONDO:0019115	obesity due to melanocortin 4 receptor deficiency	oboInOwl:hasDbXref	Orphanet:71529	Obesity due to melanocortin 4 receptor deficiency	semapv:ManualMappingCuration
MONDO:0019116	obsolete catecholamine-producing tumor	oboInOwl:hasDbXref	Orphanet:717	OBSOLETE: Catecholamine-producing tumor	semapv:ManualMappingCuration
MONDO:0019117	obsolete genetic nervous system disorder	oboInOwl:hasDbXref	Orphanet:71859	Rare genetic neurological disorder	semapv:ManualMappingCuration
MONDO:0019118	inherited retinal dystrophy	oboInOwl:hasDbXref	Orphanet:71862	Inherited retinal disorder	semapv:ManualMappingCuration
MONDO:0019119	muscular channelopathy	oboInOwl:hasDbXref	Orphanet:71864	Muscular channelopathy	semapv:ManualMappingCuration
MONDO:0019120	pili bifurcati	oboInOwl:hasDbXref	Orphanet:720	Pili bifurcati	semapv:ManualMappingCuration
MONDO:0019121	pneumocystosis	oboInOwl:hasDbXref	Orphanet:723	Pneumocystosis	semapv:ManualMappingCuration
MONDO:0019122	idiopathic acute eosinophilic pneumonia	oboInOwl:hasDbXref	Orphanet:724	Idiopathic acute eosinophilic pneumonia	semapv:ManualMappingCuration
MONDO:0019123	continuous spikes and waves during sleep	oboInOwl:hasDbXref	Orphanet:725	Developmental and epileptic encephalopathy with spike-wave activation in sleep	semapv:ManualMappingCuration
MONDO:0019124	microscopic polyangiitis	oboInOwl:hasDbXref	Orphanet:727	Microscopic polyangiitis	semapv:ManualMappingCuration
MONDO:0019125	relapsing polychondritis	oboInOwl:hasDbXref	Orphanet:728	Relapsing polychondritis	semapv:ManualMappingCuration
MONDO:0019126	obsolete intractable diarrhea of infancy	oboInOwl:hasDbXref	Orphanet:73014	Intractable diarrhea of infancy	semapv:ManualMappingCuration
MONDO:0019127	polymyositis	oboInOwl:hasDbXref	Orphanet:732	Polymyositis	semapv:ManualMappingCuration
MONDO:0019128	mullerian aplasia	oboInOwl:hasDbXref	Orphanet:73217	Müllerian aplasia	semapv:ManualMappingCuration
MONDO:0019129	global developmental delay-osteopenia-ectodermal defect syndrome	oboInOwl:hasDbXref	Orphanet:73223	Global developmental delay-osteopenia-ectodermal defect syndrome	semapv:ManualMappingCuration
MONDO:0019130	tubular renal disease-cardiomyopathy syndrome	oboInOwl:hasDbXref	Orphanet:73224	Kidney tubulopathy-dilated cardiomyopathy syndrome	semapv:ManualMappingCuration
MONDO:0019131	ossification anomalies-psychomotor developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:73230	Ossification anomalies-psychomotor developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0019132	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	oboInOwl:hasDbXref	Orphanet:73245	Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	semapv:ManualMappingCuration
MONDO:0019133	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:73246	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0019134	central neurocytoma	oboInOwl:hasDbXref	Orphanet:73256	Central neurocytoma	semapv:ManualMappingCuration
MONDO:0019136	Zygomycosis	oboInOwl:hasDbXref	Orphanet:73263	Zygomycosis	semapv:ManualMappingCuration
MONDO:0019137	non-24-hour sleep-wake syndrome	oboInOwl:hasDbXref	Orphanet:73267	Non-24-hour sleep-wake syndrome	semapv:ManualMappingCuration
MONDO:0019138	obsolete bleeding diathesis due to a collagen receptor defect	oboInOwl:hasDbXref	Orphanet:73271	Bleeding diathesis due to a collagen receptor defect	semapv:ManualMappingCuration
MONDO:0019139	acquired hemophilia	oboInOwl:hasDbXref	Orphanet:73274	OBSOLETE: Acquired hemophilia	semapv:ManualMappingCuration
MONDO:0019140	acute ackee fruit intoxication	oboInOwl:hasDbXref	Orphanet:73423	Acute ackee fruit intoxication	semapv:ManualMappingCuration
MONDO:0019141	porokeratosis of Mibelli	oboInOwl:hasDbXref	Orphanet:735	Porokeratosis of Mibelli	semapv:ManualMappingCuration
MONDO:0019142	inherited porphyria	oboInOwl:hasDbXref	Orphanet:738	Porphyria	semapv:ManualMappingCuration
MONDO:0019143	angiostrongyliasis	oboInOwl:hasDbXref	Orphanet:74	Angiostrongyliasis	semapv:ManualMappingCuration
MONDO:0019144	hereditary thrombophilia due to congenital protein S deficiency	oboInOwl:hasDbXref	Orphanet:743	Severe hereditary thrombophilia due to congenital protein S deficiency	semapv:ManualMappingCuration
MONDO:0019145	hereditary thrombophilia due to congenital protein C deficiency	oboInOwl:hasDbXref	Orphanet:745	Severe hereditary thrombophilia due to congenital protein C deficiency	semapv:ManualMappingCuration
MONDO:0019146	inherited susceptibility to mycobacterial diseases	oboInOwl:hasDbXref	Orphanet:748	Mendelian susceptibility to mycobacterial diseases	semapv:ManualMappingCuration
MONDO:0019147	myiasis	oboInOwl:hasDbXref	Orphanet:75110	Myiasis	semapv:ManualMappingCuration
MONDO:0019148	Wolman disease	oboInOwl:hasDbXref	Orphanet:75233	Wolman disease	semapv:ManualMappingCuration
MONDO:0019149	cholesteryl ester storage disease	oboInOwl:hasDbXref	Orphanet:75234	Cholesteryl ester storage disease	semapv:ManualMappingCuration
MONDO:0019150	obsolete familial isolated restrictive cardiomyopathy	oboInOwl:hasDbXref	Orphanet:75249	Familial isolated restrictive cardiomyopathy	semapv:ManualMappingCuration
MONDO:0019151	oligocone trichromacy	oboInOwl:hasDbXref	Orphanet:75378	Oligocone trichromacy	semapv:ManualMappingCuration
MONDO:0019152	Oguchi disease	oboInOwl:hasDbXref	Orphanet:75382	Oguchi disease	semapv:ManualMappingCuration
MONDO:0019153	brain malformation-congenital heart disease-postaxial polydactyly syndrome	oboInOwl:hasDbXref	Orphanet:75389	Brain malformation-congenital heart disease-postaxial polydactyly syndrome	semapv:ManualMappingCuration
MONDO:0019154	androgen insensitivity syndrome	oboInOwl:hasDbXref	Orphanet:754	Androgen insensitivity syndrome	semapv:ManualMappingCuration
MONDO:0019155	Leydig cell hypoplasia	oboInOwl:hasDbXref	Orphanet:755	Leydig cell hypoplasia	semapv:ManualMappingCuration
MONDO:0019156	angioosteohypotrophic syndrome	oboInOwl:hasDbXref	Orphanet:75508	Angioosteohypotrophic syndrome	semapv:ManualMappingCuration
MONDO:0019157	myelodysplastic syndrome with ring sideroblasts	oboInOwl:hasDbXref	Orphanet:75564	Acquired idiopathic sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0019158	tropical endomyocardial fibrosis	oboInOwl:hasDbXref	Orphanet:75565	Tropical endomyocardial fibrosis	semapv:ManualMappingCuration
MONDO:0019159	Loeffler endocarditis	oboInOwl:hasDbXref	Orphanet:75566	Loeffler endocarditis	semapv:ManualMappingCuration
MONDO:0019160	primary progressive freezing gait	oboInOwl:hasDbXref	Orphanet:75567	Primary progressive freezing gait	semapv:ManualMappingCuration
MONDO:0019161	pseudohypoaldosteronism type 1	oboInOwl:hasDbXref	Orphanet:756	Pseudohypoaldosteronism type 1	semapv:ManualMappingCuration
MONDO:0019162	pseudohypoaldosteronism type 2	oboInOwl:hasDbXref	Orphanet:757	Pseudohypoaldosteronism type 2	semapv:ManualMappingCuration
MONDO:0019164	6q terminal deletion syndrome	oboInOwl:hasDbXref	Orphanet:75857	6q terminal deletion syndrome	semapv:ManualMappingCuration
MONDO:0019165	central precocious puberty	oboInOwl:hasDbXref	Orphanet:650063	Rare central precocious puberty	semapv:ManualMappingCuration
MONDO:0019165	central precocious puberty	oboInOwl:hasDbXref	Orphanet:759	NON RARE IN EUROPE: Central precocious puberty	semapv:ManualMappingCuration
MONDO:0019167	immunoglobulin A vasculitis	oboInOwl:hasDbXref	Orphanet:761	Immunoglobulin A vasculitis	semapv:ManualMappingCuration
MONDO:0019168	pyomyositis	oboInOwl:hasDbXref	Orphanet:764	Pyomyositis	semapv:ManualMappingCuration
MONDO:0019169	pyruvate dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:765	Pyruvate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0019170	polyarteritis nodosa	oboInOwl:hasDbXref	Orphanet:767	Polyarteritis nodosa	semapv:ManualMappingCuration
MONDO:0019171	familial long QT syndrome	oboInOwl:hasDbXref	Orphanet:101016	Romano-Ward syndrome	semapv:ManualMappingCuration
MONDO:0019171	familial long QT syndrome	oboInOwl:hasDbXref	Orphanet:768	Familial long QT syndrome	semapv:ManualMappingCuration
MONDO:0019172	aniridia	oboInOwl:hasDbXref	Orphanet:77	OBSOLETE: Aniridia	semapv:ManualMappingCuration
MONDO:0019173	rabies	oboInOwl:hasDbXref	Orphanet:770	Rabies	semapv:ManualMappingCuration
MONDO:0019174	obsolete infantile Refsum disease	oboInOwl:hasDbXref	Orphanet:772	Infantile Refsum disease	semapv:ManualMappingCuration
MONDO:0019175	primary lymphedema	oboInOwl:hasDbXref	Orphanet:77240	Primary lymphedema	semapv:ManualMappingCuration
MONDO:0019176	obsolete trichorhinophalangeal syndrome type I or III	oboInOwl:hasDbXref	Orphanet:77258	Trichorhinophalangeal syndrome type 1	semapv:ManualMappingCuration
MONDO:0019177	odontoleukodystrophy	oboInOwl:hasDbXref	Orphanet:77295	Odontoleukodystrophy	semapv:ManualMappingCuration
MONDO:0019178	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	oboInOwl:hasDbXref	Orphanet:77300	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0019179	monosomy 9q22.3	oboInOwl:hasDbXref	Orphanet:77301	Monosomy 9q22.3 syndrome	semapv:ManualMappingCuration
MONDO:0019180	hereditary hemorrhagic telangiectasia	oboInOwl:hasDbXref	Orphanet:774	Hereditary hemorrhagic telangiectasia	semapv:ManualMappingCuration
MONDO:0019181	non-syndromic X-linked intellectual disability	oboInOwl:hasDbXref	Orphanet:777	X-linked non-syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0019182	inherited obesity	oboInOwl:hasDbXref	Orphanet:77828	Genetic obesity	semapv:ManualMappingCuration
MONDO:0019183	obsolete inherited odontologic disease	oboInOwl:hasDbXref	Orphanet:77830	Rare genetic odontologic disease	semapv:ManualMappingCuration
MONDO:0019186	Q fever	oboInOwl:hasDbXref	Orphanet:781	Q fever	semapv:ManualMappingCuration
MONDO:0019187	Axenfeld-Rieger syndrome	oboInOwl:hasDbXref	Orphanet:782	Axenfeld-Rieger syndrome	semapv:ManualMappingCuration
MONDO:0019188	Rubinstein-Taybi syndrome	oboInOwl:hasDbXref	Orphanet:783	Rubinstein-Taybi syndrome	semapv:ManualMappingCuration
MONDO:0019189	inborn disorder of amino acid and other organic acid metabolism	oboInOwl:hasDbXref	Orphanet:79062	Disorder of amino acid and other organic acid metabolism	semapv:ManualMappingCuration
MONDO:0019190	juvenile polyposis of infancy	oboInOwl:hasDbXref	Orphanet:79076	Juvenile polyposis of infancy	semapv:ManualMappingCuration
MONDO:0019191	IgG4-related dacryoadenitis and sialadenitis	oboInOwl:hasDbXref	Orphanet:79078	IgG4-related dacryoadenitis and sialadenitis	semapv:ManualMappingCuration
MONDO:0019192	AKT2-related familial partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:79085	AKT2-related familial partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0019193	acquired generalized lipodystrophy	oboInOwl:hasDbXref	Orphanet:79086	Acquired generalized lipodystrophy	semapv:ManualMappingCuration
MONDO:0019194	localized lipodystrophy	oboInOwl:hasDbXref	Orphanet:79088	Localized lipodystrophy	semapv:ManualMappingCuration
MONDO:0019195	hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	oboInOwl:hasDbXref	Orphanet:79091	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	semapv:ManualMappingCuration
MONDO:0019196	Foix-Alajouanine syndrome	oboInOwl:hasDbXref	Orphanet:79093	Foix-Alajouanine syndrome	semapv:ManualMappingCuration
MONDO:0019197	folinic acid-responsive seizures	oboInOwl:hasDbXref	Orphanet:79097	Folinic acid-responsive seizures	semapv:ManualMappingCuration
MONDO:0019198	sympathetic ophthalmia	oboInOwl:hasDbXref	Orphanet:79098	Sympathetic ophthalmia	semapv:ManualMappingCuration
MONDO:0019199	interstitial granulomatous dermatitis with arthritis	oboInOwl:hasDbXref	Orphanet:79099	Interstitial granulomatous dermatitis with arthritis	semapv:ManualMappingCuration
MONDO:0019200	retinitis pigmentosa	oboInOwl:hasDbXref	Orphanet:791	Retinitis pigmentosa	semapv:ManualMappingCuration
MONDO:0019201	thyrotoxic periodic paralysis	oboInOwl:hasDbXref	Orphanet:79102	Thyrotoxic periodic paralysis	semapv:ManualMappingCuration
MONDO:0019202	myxofibrosarcoma	oboInOwl:hasDbXref	Orphanet:79105	Myxofibrosarcoma	semapv:ManualMappingCuration
MONDO:0019203	acute interstitial pneumonia	oboInOwl:hasDbXref	Orphanet:79126	Acute interstitial pneumonia	semapv:ManualMappingCuration
MONDO:0019204	respiratory bronchiolitis-interstitial lung disease syndrome	oboInOwl:hasDbXref	Orphanet:79127	Respiratory bronchiolitis-interstitial lung disease syndrome	semapv:ManualMappingCuration
MONDO:0019205	trichodysplasia-amelogenesis imperfecta syndrome	oboInOwl:hasDbXref	Orphanet:79129	Trichodysplasia-amelogenesis imperfecta syndrome	semapv:ManualMappingCuration
MONDO:0019207	DEND syndrome	oboInOwl:hasDbXref	Orphanet:79134	DEND syndrome	semapv:ManualMappingCuration
MONDO:0019208	Bickerstaff brainstem encephalitis	oboInOwl:hasDbXref	Orphanet:79138	Bickerstaff brainstem encephalitis	semapv:ManualMappingCuration
MONDO:0019209	Japanese encephalitis	oboInOwl:hasDbXref	Orphanet:79139	Japanese encephalitis	semapv:ManualMappingCuration
MONDO:0019210	cutaneous neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:79140	Cutaneous neuroendocrine carcinoma	semapv:ManualMappingCuration
MONDO:0019211	isolated congenital anonychia	oboInOwl:hasDbXref	Orphanet:79143	Isolated congenital anonychia	semapv:ManualMappingCuration
MONDO:0019212	disseminated superficial actinic porokeratosis	oboInOwl:hasDbXref	Orphanet:79152	Disseminated superficial actinic porokeratosis	semapv:ManualMappingCuration
MONDO:0019213	obsolete cerebral organic aciduria	oboInOwl:hasDbXref	Orphanet:79158	Cerebral organic aciduria	semapv:ManualMappingCuration
MONDO:0019214	inborn carbohydrate metabolic disorder	oboInOwl:hasDbXref	Orphanet:79161	Disorder of carbohydrate metabolism	semapv:ManualMappingCuration
MONDO:0019215	classic organic aciduria	oboInOwl:hasDbXref	Orphanet:79163	Classic organic aciduria	semapv:ManualMappingCuration
MONDO:0019216	inborn disorder of amino acid transport	oboInOwl:hasDbXref	Orphanet:79166	Disorder of amino acid absorption and transport	semapv:ManualMappingCuration
MONDO:0019218	inborn disorder of bile acid synthesis	oboInOwl:hasDbXref	Orphanet:79168	Disorder of bile acid synthesis	semapv:ManualMappingCuration
MONDO:0019219	inborn disorder of neurotransmitter metabolism and transport	oboInOwl:hasDbXref	Orphanet:79169	Disorder of neurotransmitter metabolism and transport	semapv:ManualMappingCuration
MONDO:0019220	inborn disorder of cobalamin metabolism and transport	oboInOwl:hasDbXref	Orphanet:79171	Disorder of cobalamin metabolism and transport	semapv:ManualMappingCuration
MONDO:0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	oboInOwl:hasDbXref	Orphanet:79173	Disorder of methionine cycle and sulfur amino acid metabolism	semapv:ManualMappingCuration
MONDO:0019223	disorder of fatty acid and ketone body metabolism	oboInOwl:hasDbXref	Orphanet:79174	Disorder of fatty acid oxidation and ketone body metabolism	semapv:ManualMappingCuration
MONDO:0019225	disorder of gluconeogenesis	oboInOwl:hasDbXref	Orphanet:79177	Gluconeogenesis disorder	semapv:ManualMappingCuration
MONDO:0019226	glucose transport disorder	oboInOwl:hasDbXref	Orphanet:79178	Glucose transport disorder	semapv:ManualMappingCuration
MONDO:0019227	obsolete inborn disorder of glycerol metabolism	oboInOwl:hasDbXref	Orphanet:79179	Disorder of glycerol metabolism	semapv:ManualMappingCuration
MONDO:0019228	inborn disorder of histidine metabolism	oboInOwl:hasDbXref	Orphanet:79181	Disorder of histidine metabolism	semapv:ManualMappingCuration
MONDO:0019229	inborn disorder of ketolysis	oboInOwl:hasDbXref	Orphanet:79183	Disorder of ketolysis	semapv:ManualMappingCuration
MONDO:0019230	inborn disorder of ornithine or proline metabolism	oboInOwl:hasDbXref	Orphanet:79185	Disorder of ornithine or proline metabolism	semapv:ManualMappingCuration
MONDO:0019231	inborn disorder of pentose phosphate metabolism	oboInOwl:hasDbXref	Orphanet:79186	Disorder of pentose phosphate metabolism	semapv:ManualMappingCuration
MONDO:0019232	inborn disorder of peptide metabolism	oboInOwl:hasDbXref	Orphanet:79187	Disorder of peptide metabolism	semapv:ManualMappingCuration
MONDO:0019233	disorder of peroxisomal beta oxidation	oboInOwl:hasDbXref	Orphanet:79188	Peroxisomal beta-oxidation disorder	semapv:ManualMappingCuration
MONDO:0019234	peroxisome biogenesis disorder	oboInOwl:hasDbXref	Orphanet:79189	Peroxisome biogenesis disorder	semapv:ManualMappingCuration
MONDO:0019235	inborn disorder of phenylalanine and tyrosine metabolism	oboInOwl:hasDbXref	Orphanet:79190	Disorder of phenylalanin or tyrosine metabolism	semapv:ManualMappingCuration
MONDO:0019236	inborn disorder of purine metabolism	oboInOwl:hasDbXref	Orphanet:79191	Disorder of purine metabolism	semapv:ManualMappingCuration
MONDO:0019237	inborn disorder of pyridoxine metabolism	oboInOwl:hasDbXref	Orphanet:79192	Disorder of pyridoxine metabolism	semapv:ManualMappingCuration
MONDO:0019238	inborn disorder of pyrimidine metabolism	oboInOwl:hasDbXref	Orphanet:79193	Disorder of pyrimidine metabolism	semapv:ManualMappingCuration
MONDO:0019239	inborn disorder of serine family metabolism	oboInOwl:hasDbXref	Orphanet:79194	Disorder of serine or glycine metabolism	semapv:ManualMappingCuration
MONDO:0019240	sterol biosynthesis disorder	oboInOwl:hasDbXref	Orphanet:79195	Sterol biosynthesis disorder	semapv:ManualMappingCuration
MONDO:0019241	inborn disorder of the gamma-glutamyl cycle	oboInOwl:hasDbXref	Orphanet:79196	Disorder of the gamma-glutamyl cycle	semapv:ManualMappingCuration
MONDO:0019242	inborn disorder of branched-chain amino acid metabolism	oboInOwl:hasDbXref	Orphanet:79197	Disorder of branched-chain amino acid metabolism	semapv:ManualMappingCuration
MONDO:0019243	inborn disorder of energy metabolism	oboInOwl:hasDbXref	Orphanet:79200	Disorder of energy metabolism	semapv:ManualMappingCuration
MONDO:0019245	lysosomal lipid storage disorder	oboInOwl:hasDbXref	Orphanet:79204	Lipid storage disease	semapv:ManualMappingCuration
MONDO:0019246	inborn disorder of lysosomal amino acid transport	oboInOwl:hasDbXref	Orphanet:79207	Disorder of lysosomal amino acid transport	semapv:ManualMappingCuration
MONDO:0019248	mucolipidosis	oboInOwl:hasDbXref	Orphanet:79212	Mucolipidosis	semapv:ManualMappingCuration
MONDO:0019249	mucopolysaccharidosis	oboInOwl:hasDbXref	Orphanet:79213	Mucopolysaccharidosis	semapv:ManualMappingCuration
MONDO:0019250	inborn disorder of biogenic amine metabolism and transport	oboInOwl:hasDbXref	Orphanet:79214	Disorder of biogenic amine metabolism and transport	semapv:ManualMappingCuration
MONDO:0019251	oligosaccharidosis	oboInOwl:hasDbXref	Orphanet:79215	Oligosaccharidosis	semapv:ManualMappingCuration
MONDO:0019252	obsolete other metabolic disease with skin involvement	oboInOwl:hasDbXref	Orphanet:79217	Other metabolic disease with skin involvement	semapv:ManualMappingCuration
MONDO:0019253	metabolic disease involving other neurotransmitter deficiency	oboInOwl:hasDbXref	Orphanet:79219	Metabolic disease involving other neurotransmitter deficiency	semapv:ManualMappingCuration
MONDO:0019254	inborn disorder of purine or pyrimidine metabolism	oboInOwl:hasDbXref	Orphanet:79224	Disorder of purine or pyrimidine metabolism	semapv:ManualMappingCuration
MONDO:0019255	sphingolipidosis	oboInOwl:hasDbXref	Orphanet:79225	Sphingolipidosis	semapv:ManualMappingCuration
MONDO:0019256	sterol metabolism disorder	oboInOwl:hasDbXref	Orphanet:79226	Sterol metabolism disorder	semapv:ManualMappingCuration
MONDO:0019257	hemochromatosis type 2	oboInOwl:hasDbXref	Orphanet:79230	HJV or HAMP-related hemochromatosis	semapv:ManualMappingCuration
MONDO:0019258	mild phenylketonuria	oboInOwl:hasDbXref	Orphanet:79253	Mild phenylketonuria	semapv:ManualMappingCuration
MONDO:0019259	classic phenylketonuria	oboInOwl:hasDbXref	Orphanet:79254	Classic phenylketonuria	semapv:ManualMappingCuration
MONDO:0019260	adult neuronal ceroid lipofuscinosis	oboInOwl:hasDbXref	Orphanet:79262	OBSOLETE: Adult neuronal ceroid lipofuscinosis	semapv:ManualMappingCuration
MONDO:0019261	infantile neuronal ceroid lipofuscinosis	oboInOwl:hasDbXref	Orphanet:79263	OBSOLETE: Infantile neuronal ceroid lipofuscinosis	semapv:ManualMappingCuration
MONDO:0019262	juvenile neuronal ceroid lipofuscinosis	oboInOwl:hasDbXref	Orphanet:79264	OBSOLETE: Juvenile neuronal ceroid lipofuscinosis	semapv:ManualMappingCuration
MONDO:0019263	autosomal erythropoietic protoporphyria	oboInOwl:hasDbXref	Orphanet:79278	Autosomal erythropoietic protoporphyria	semapv:ManualMappingCuration
MONDO:0019264	alpha-N-acetylgalactosaminidase deficiency type 3	oboInOwl:hasDbXref	Orphanet:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	semapv:ManualMappingCuration
MONDO:0019265	diazoxide-resistant focal hyperinsulinism	oboInOwl:hasDbXref	Orphanet:79298	Diazoxide-resistant focal hyperinsulinism	semapv:ManualMappingCuration
MONDO:0019266	SAPHO syndrome	oboInOwl:hasDbXref	Orphanet:793	SAPHO syndrome	semapv:ManualMappingCuration
MONDO:0019267	vitamin B12-unresponsive methylmalonic acidemia type mut-	oboInOwl:hasDbXref	Orphanet:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	semapv:ManualMappingCuration
MONDO:0019268	epidermal disease	oboInOwl:hasDbXref	Orphanet:79353	Epidermal disease	semapv:ManualMappingCuration
MONDO:0019269	ichthyosis	oboInOwl:hasDbXref	Orphanet:79354	Ichthyosis	semapv:ManualMappingCuration
MONDO:0019270	erythrokeratoderma	oboInOwl:hasDbXref	Orphanet:79355	Erythrokeratoderma	semapv:ManualMappingCuration
MONDO:0019271	obsolete acrokeratoderma	oboInOwl:hasDbXref	Orphanet:79356	Acrokeratoderma	semapv:ManualMappingCuration
MONDO:0019272	hereditary palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:79357	Hereditary palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0019274	obsolete other epidermal disorder	oboInOwl:hasDbXref	Orphanet:79359	Other epidermal disorder	semapv:ManualMappingCuration
MONDO:0019275	obsolete other genetic epidermal disease	oboInOwl:hasDbXref	Orphanet:79360	Other genetic epidermal disease	semapv:ManualMappingCuration
MONDO:0019276	inherited epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:79361	Inherited epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0019277	obsolete epidermal appendage anomaly	oboInOwl:hasDbXref	Orphanet:79362	Epidermal appendage anomaly	semapv:ManualMappingCuration
MONDO:0019278	hair anomaly	oboInOwl:hasDbXref	Orphanet:79363	Hair anomaly	semapv:ManualMappingCuration
MONDO:0019280	hypertrichosis	oboInOwl:hasDbXref	Orphanet:79365	Rare disorder with hypertrichosis	semapv:ManualMappingCuration
MONDO:0019281	obsolete isolated genetic hair shaft abnormality	oboInOwl:hasDbXref	Orphanet:79366	Isolated hair shaft abnormality	semapv:ManualMappingCuration
MONDO:0019282	obsolete syndromic hair shaft abnormality	oboInOwl:hasDbXref	Orphanet:79367	Syndromic hair shaft abnormality	semapv:ManualMappingCuration
MONDO:0019283	nail anomaly	oboInOwl:hasDbXref	Orphanet:79368	Nail anomaly	semapv:ManualMappingCuration
MONDO:0019284	inherited isolated nail anomaly	oboInOwl:hasDbXref	Orphanet:79369	Isolated nail anomaly	semapv:ManualMappingCuration
MONDO:0019285	obsolete syndromic nail anomaly	oboInOwl:hasDbXref	Orphanet:79370	Syndromic nail anomaly	semapv:ManualMappingCuration
MONDO:0019286	obsolete sebaceous gland anomaly	oboInOwl:hasDbXref	Orphanet:79372	Sebaceous gland anomaly	semapv:ManualMappingCuration
MONDO:0019287	ectodermal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:79373	Ectodermal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0019288	skin pigmentation disorder	oboInOwl:hasDbXref	Orphanet:79374	Pigmentation anomaly of the skin	semapv:ManualMappingCuration
MONDO:0019289	hyperpigmentation of the skin	oboInOwl:hasDbXref	Orphanet:79375	Hyperpigmentation of the skin	semapv:ManualMappingCuration
MONDO:0019290	hypopigmentation of the skin	oboInOwl:hasDbXref	Orphanet:79376	Hypopigmentation of the skin	semapv:ManualMappingCuration
MONDO:0019291	obsolete rare genetic dermis disorder	oboInOwl:hasDbXref	Orphanet:79377	Dermis disorder	semapv:ManualMappingCuration
MONDO:0019292	obsolete dermis elastic tissue disorder	oboInOwl:hasDbXref	Orphanet:79378	Dermis elastic tissue disorder	semapv:ManualMappingCuration
MONDO:0019293	skin vascular disease	oboInOwl:hasDbXref	Orphanet:79379	Skin vascular disease	semapv:ManualMappingCuration
MONDO:0019294	mixed dermis disorder	oboInOwl:hasDbXref	Orphanet:79380	Mixed dermis disorder	semapv:ManualMappingCuration
MONDO:0019296	subcutaneous tissue disorder	oboInOwl:hasDbXref	Orphanet:79382	Subcutaneous tissue disease	semapv:ManualMappingCuration
MONDO:0019297	lymphedema	oboInOwl:hasDbXref	Orphanet:79383	OBSOLETE: Lymphedema	semapv:ManualMappingCuration
MONDO:0019298	obsolete rare urticaria	oboInOwl:hasDbXref	Orphanet:79384	Rare urticaria	semapv:ManualMappingCuration
MONDO:0019299	obsolete unclassified genetic skin disorder	oboInOwl:hasDbXref	Orphanet:79385	Unclassified genetic skin disorder	semapv:ManualMappingCuration
MONDO:0019300	obsolete rare skin tumor or hamartoma	oboInOwl:hasDbXref	Orphanet:79386	Rare skin tumor or hamartoma	semapv:ManualMappingCuration
MONDO:0019301	obsolete metabolic disease with skin involvement	oboInOwl:hasDbXref	Orphanet:79387	Metabolic disease with skin involvement	semapv:ManualMappingCuration
MONDO:0019303	premature aging syndrome	oboInOwl:hasDbXref	Orphanet:79389	Premature aging	semapv:ManualMappingCuration
MONDO:0019304	obsolete rare photodermatosis	oboInOwl:hasDbXref	Orphanet:79390	Rare photodermatosis	semapv:ManualMappingCuration
MONDO:0019305	obsolete immune deficiency with skin involvement	oboInOwl:hasDbXref	Orphanet:79391	Immune deficiency with skin involvement	semapv:ManualMappingCuration
MONDO:0019306	congenital non-bullous ichthyosiform erythroderma	oboInOwl:hasDbXref	Orphanet:79394	Congenital ichthyosiform erythroderma	semapv:ManualMappingCuration
MONDO:0019307	generalized junctional epidermolysis bullosa non-Herlitz type	oboInOwl:hasDbXref	Orphanet:79402	Intermediate generalized junctional epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0019308	junctional epidermolysis bullosa inversa	oboInOwl:hasDbXref	Orphanet:79405	Junctional epidermolysis bullosa inversa	semapv:ManualMappingCuration
MONDO:0019309	late-onset junctional epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:79406	Late-onset junctional epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0019310	recessive dystrophic epidermolysis bullosa inversa	oboInOwl:hasDbXref	Orphanet:79409	Recessive dystrophic epidermolysis bullosa inversa	semapv:ManualMappingCuration
MONDO:0019311	wooly hair nevus	oboInOwl:hasDbXref	Orphanet:79414	Woolly hair nevus	semapv:ManualMappingCuration
MONDO:0019312	Hermansky-Pudlak syndrome	oboInOwl:hasDbXref	Orphanet:79430	Hermansky-Pudlak syndrome	semapv:ManualMappingCuration
MONDO:0019314	cutaneous mastocytoma	oboInOwl:hasDbXref	Orphanet:79455	Cutaneous mastocytoma	semapv:ManualMappingCuration
MONDO:0019315	diffuse cutaneous mastocytosis	oboInOwl:hasDbXref	Orphanet:79456	Diffuse cutaneous mastocytosis	semapv:ManualMappingCuration
MONDO:0019316	maculopapular cutaneous mastocytosis	oboInOwl:hasDbXref	Orphanet:79457	Maculopapular cutaneous mastocytosis	semapv:ManualMappingCuration
MONDO:0019317	follicular atrophoderma-basal cell carcinoma	oboInOwl:hasDbXref	Orphanet:79459	OBSOLETE: Follicular atrophoderma-basal cell carcinoma	semapv:ManualMappingCuration
MONDO:0019318	inflammatory linear verrucous epidermal nevus	oboInOwl:hasDbXref	Orphanet:79466	Inflammatory linear verrucous epidermal nevus	semapv:ManualMappingCuration
MONDO:0019319	verrucous nevus	oboInOwl:hasDbXref	Orphanet:79467	Verrucous nevus	semapv:ManualMappingCuration
MONDO:0019320	acanthokeratolytic verrucous nevus	oboInOwl:hasDbXref	Orphanet:79468	Acanthokeratolytic verrucous nevus	semapv:ManualMappingCuration
MONDO:0019321	atypical Werner syndrome	oboInOwl:hasDbXref	Orphanet:79474	Atypical Werner syndrome	semapv:ManualMappingCuration
MONDO:0019322	pemphigus vegetans	oboInOwl:hasDbXref	Orphanet:79479	Pemphigus vegetans	semapv:ManualMappingCuration
MONDO:0019323	pemphigus erythematosus	oboInOwl:hasDbXref	Orphanet:79480	Pemphigus erythematosus	semapv:ManualMappingCuration
MONDO:0019324	pemphigus foliaceus	oboInOwl:hasDbXref	Orphanet:79481	Pemphigus foliaceus	semapv:ManualMappingCuration
MONDO:0019325	phakomatosis cesioflammea	oboInOwl:hasDbXref	Orphanet:79483	Phakomatosis cesioflammea	semapv:ManualMappingCuration
MONDO:0019326	phakomatosis cesiomarmorata	oboInOwl:hasDbXref	Orphanet:79484	Phakomatosis cesiomarmorata	semapv:ManualMappingCuration
MONDO:0019327	phakomatosis spilorosea	oboInOwl:hasDbXref	Orphanet:79485	Phakomatosis spilorosea	semapv:ManualMappingCuration
MONDO:0019328	macrocystic lymphatic malformation	oboInOwl:hasDbXref	Orphanet:79489	Macrocystic lymphatic malformation	semapv:ManualMappingCuration
MONDO:0019329	microcystic lymphatic malformation	oboInOwl:hasDbXref	Orphanet:79490	Microcystic lymphatic malformation	semapv:ManualMappingCuration
MONDO:0019330	pili gemini	oboInOwl:hasDbXref	Orphanet:79492	Pili gemini	semapv:ManualMappingCuration
MONDO:0019332	punctate palmoplantar keratoderma type 1	oboInOwl:hasDbXref	Orphanet:79501	Punctate palmoplantar keratoderma type 1	semapv:ManualMappingCuration
MONDO:0019333	autosomal recessive hyperinsulinism due to SUR1 deficiency	oboInOwl:hasDbXref	Orphanet:79643	Autosomal recessive hyperinsulinism due to SUR1 deficiency	semapv:ManualMappingCuration
MONDO:0019334	autosomal recessive hyperinsulinism due to Kir6.2 deficiency	oboInOwl:hasDbXref	Orphanet:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	semapv:ManualMappingCuration
MONDO:0019335	mild hyperphenylalaninemia	oboInOwl:hasDbXref	Orphanet:79651	Mild hyperphenylalaninemia	semapv:ManualMappingCuration
MONDO:0019336	Gardner syndrome	oboInOwl:hasDbXref	Orphanet:79665	Gardner syndrome	semapv:ManualMappingCuration
MONDO:0019337	autoimmune bullous skin disease	oboInOwl:hasDbXref	Orphanet:79669	Autoimmune bullous skin disease	semapv:ManualMappingCuration
MONDO:0019338	sarcoidosis	oboInOwl:hasDbXref	Orphanet:797	Sarcoidosis	semapv:ManualMappingCuration
MONDO:0019339	47,XYY syndrome	oboInOwl:hasDbXref	Orphanet:8	47,XYY syndrome	semapv:ManualMappingCuration
MONDO:0019340	scleroderma	oboInOwl:hasDbXref	Orphanet:801	Scleroderma	semapv:ManualMappingCuration
MONDO:0019342	Seckel syndrome	oboInOwl:hasDbXref	Orphanet:808	Seckel syndrome	semapv:ManualMappingCuration
MONDO:0019344	antisynthetase syndrome	oboInOwl:hasDbXref	Orphanet:81	Antisynthetase syndrome	semapv:ManualMappingCuration
MONDO:0019345	shigellosis	oboInOwl:hasDbXref	Orphanet:810	Shigellosis	semapv:ManualMappingCuration
MONDO:0019346	sialidosis type 1	oboInOwl:hasDbXref	Orphanet:812	Sialidosis type 1	semapv:ManualMappingCuration
MONDO:0019347	peeling skin syndrome	oboInOwl:hasDbXref	Orphanet:817	Peeling skin syndrome	semapv:ManualMappingCuration
MONDO:0019348	obsolete Ehlers-Danlos syndrome with periventricular heterotopia	oboInOwl:hasDbXref	Orphanet:82004	Ehlers-Danlos syndrome with periventricular heterotopia	semapv:ManualMappingCuration
MONDO:0019349	Sotos syndrome	oboInOwl:hasDbXref	Orphanet:821	Sotos syndrome	semapv:ManualMappingCuration
MONDO:0019350	hereditary spherocytosis	oboInOwl:hasDbXref	Orphanet:822	Hereditary spherocytosis	semapv:ManualMappingCuration
MONDO:0019351	isolated spina bifida	oboInOwl:hasDbXref	Orphanet:823	Spina bifida and other spinal dysraphisms	semapv:ManualMappingCuration
MONDO:0019353	Stargardt disease	oboInOwl:hasDbXref	Orphanet:827	Stargardt disease	semapv:ManualMappingCuration
MONDO:0019354	Stickler syndrome	oboInOwl:hasDbXref	Orphanet:828	Stickler syndrome	semapv:ManualMappingCuration
MONDO:0019355	adult-onset Still disease	oboInOwl:hasDbXref	Orphanet:829	Adult-onset Still disease	semapv:ManualMappingCuration
MONDO:0019356	urogenital tract malformation	oboInOwl:hasDbXref	Orphanet:83001	Urogenital tract malformation	semapv:ManualMappingCuration
MONDO:0019357	congenital narrowing of cervical spinal canal	oboInOwl:hasDbXref	Orphanet:831	Congenital cervical spinal stenosis	semapv:ManualMappingCuration
MONDO:0019358	encephalopathy due to sulfite oxidase deficiency	oboInOwl:hasDbXref	Orphanet:833	Encephalopathy due to sulfite oxidase deficiency	semapv:ManualMappingCuration
MONDO:0019359	Rocky mountain spotted fever	oboInOwl:hasDbXref	Orphanet:83311	Rocky Mountain spotted fever	semapv:ManualMappingCuration
MONDO:0019360	rickettsialpox	oboInOwl:hasDbXref	Orphanet:83312	Rickettsialpox	semapv:ManualMappingCuration
MONDO:0019362	epidemic louse-borne typhus	oboInOwl:hasDbXref	Orphanet:83314	Epidemic typhus	semapv:ManualMappingCuration
MONDO:0019364	pseudotyphus of California	oboInOwl:hasDbXref	Orphanet:83316	Pseudotyphus of California	semapv:ManualMappingCuration
MONDO:0019365	scrub typhus	oboInOwl:hasDbXref	Orphanet:83317	Scrub typhus	semapv:ManualMappingCuration
MONDO:0019366	free sialic acid storage disease	oboInOwl:hasDbXref	Orphanet:834	Free sialic acid storage disease	semapv:ManualMappingCuration
MONDO:0019367	regional odontodysplasia	oboInOwl:hasDbXref	Orphanet:83450	Regional odontodysplasia	semapv:ManualMappingCuration
MONDO:0019368	florid cemento-osseous dysplasia	oboInOwl:hasDbXref	Orphanet:83451	Florid cemento-osseous dysplasia	semapv:ManualMappingCuration
MONDO:0019369	complex regional pain syndrome	oboInOwl:hasDbXref	Orphanet:83452	Complex regional pain syndrome	semapv:ManualMappingCuration
MONDO:0019370	vulvovaginal gingival syndrome	oboInOwl:hasDbXref	Orphanet:83453	Vulvovaginal gingival syndrome	semapv:ManualMappingCuration
MONDO:0019371	narcolepsy without cataplexy	oboInOwl:hasDbXref	Orphanet:83465	Narcolepsy type 2	semapv:ManualMappingCuration
MONDO:0019372	solitary bone cyst	oboInOwl:hasDbXref	Orphanet:83468	Solitary bone cyst	semapv:ManualMappingCuration
MONDO:0019373	desmoplastic small round cell tumor	oboInOwl:hasDbXref	Orphanet:83469	Desmoplastic small round cell tumor	semapv:ManualMappingCuration
MONDO:0019374	CAMOS syndrome	oboInOwl:hasDbXref	Orphanet:83472	CAMOS syndrome	semapv:ManualMappingCuration
MONDO:0019375	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	oboInOwl:hasDbXref	Orphanet:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	semapv:ManualMappingCuration
MONDO:0019376	West-Nile encephalitis	oboInOwl:hasDbXref	Orphanet:83476	West-Nile encephalitis	semapv:ManualMappingCuration
MONDO:0019377	Mycoplasma encephalitis	oboInOwl:hasDbXref	Orphanet:83482	Mycoplasma encephalitis	semapv:ManualMappingCuration
MONDO:0019378	la Crosse encephalitis	oboInOwl:hasDbXref	Orphanet:83483	La Crosse encephalitis	semapv:ManualMappingCuration
MONDO:0019380	western equine encephalitis	oboInOwl:hasDbXref	Orphanet:83593	Western equine encephalitis	semapv:ManualMappingCuration
MONDO:0019383	acute disseminated encephalomyelitis	oboInOwl:hasDbXref	Orphanet:83597	Acute disseminated encephalomyelitis	semapv:ManualMappingCuration
MONDO:0019384	encephalitis lethargica	oboInOwl:hasDbXref	Orphanet:83600	Encephalitis lethargica	semapv:ManualMappingCuration
MONDO:0019385	steroid-responsive encephalopathy associated with autoimmune thyroiditis	oboInOwl:hasDbXref	Orphanet:83601	Steroid-responsive encephalopathy associated with autoimmune thyroiditis	semapv:ManualMappingCuration
MONDO:0019386	progressive rubella panencephalitis	oboInOwl:hasDbXref	Orphanet:83616	Rubella panencephalitis	semapv:ManualMappingCuration
MONDO:0019387	macrostomia-preauricular tags-external ophthalmoplegia syndrome	oboInOwl:hasDbXref	Orphanet:83619	Macrostomia-preauricular tags-external ophthalmoplegia syndrome	semapv:ManualMappingCuration
MONDO:0019388	pelvis syndrome	oboInOwl:hasDbXref	Orphanet:83628	LUMBAR syndrome	semapv:ManualMappingCuration
MONDO:0019389	obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome	oboInOwl:hasDbXref	Orphanet:83648	OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome	semapv:ManualMappingCuration
MONDO:0019390	Susac syndrome	oboInOwl:hasDbXref	Orphanet:838	Susac syndrome	semapv:ManualMappingCuration
MONDO:0019391	Fanconi anemia	oboInOwl:hasDbXref	Orphanet:84	Fanconi anemia	semapv:ManualMappingCuration
MONDO:0019392	syringocystadenoma papilliferum	oboInOwl:hasDbXref	Orphanet:840	Syringocystadenoma papilliferum	semapv:ManualMappingCuration
MONDO:0019393	idiopathic malabsorption due to bile acid synthesis defects	oboInOwl:hasDbXref	Orphanet:84065	Idiopathic malabsorption due to bile acid synthesis defects	semapv:ManualMappingCuration
MONDO:0019394	Senior-Boichis syndrome	oboInOwl:hasDbXref	Orphanet:84081	Senior-Boichis syndrome	semapv:ManualMappingCuration
MONDO:0019395	Hinman syndrome	oboInOwl:hasDbXref	Orphanet:84085	Hinman syndrome	semapv:ManualMappingCuration
MONDO:0019396	collagen type III glomerulopathy	oboInOwl:hasDbXref	Orphanet:84087	Collagen type III glomerulopathy	semapv:ManualMappingCuration
MONDO:0019397	unknown leukodystrophy	oboInOwl:hasDbXref	Orphanet:84096	OBSOLETE: Unknown leukodystrophy	semapv:ManualMappingCuration
MONDO:0019398	desmin-related myopathy with Mallory body-like inclusions	oboInOwl:hasDbXref	Orphanet:84132	Desmin-related myopathy with Mallory body-like inclusions	semapv:ManualMappingCuration
MONDO:0019399	Isaac syndrome	oboInOwl:hasDbXref	Orphanet:84142	Isaacs syndrome	semapv:ManualMappingCuration
MONDO:0019401	sporadic idiopathic steroid-resistant nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:84271	Sporadic idiopathic steroid-resistant nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0019402	beta thalassemia	oboInOwl:hasDbXref	Orphanet:848	Beta-thalassemia	semapv:ManualMappingCuration
MONDO:0019403	congenital dyserythropoietic anemia	oboInOwl:hasDbXref	Orphanet:85	Congenital dyserythropoietic anemia	semapv:ManualMappingCuration
MONDO:0019404	perineurioma	oboInOwl:hasDbXref	Orphanet:85102	Perineurioma	semapv:ManualMappingCuration
MONDO:0019405	facial onset sensory and motor neuronopathy	oboInOwl:hasDbXref	Orphanet:85162	Facial onset sensory and motor neuronopathy	semapv:ManualMappingCuration
MONDO:0019406	craniofacial conodysplasia	oboInOwl:hasDbXref	Orphanet:85168	Craniofacial conodysplasia	semapv:ManualMappingCuration
MONDO:0019407	microcephalic osteodysplastic dysplasia, Saul-Wilson type	oboInOwl:hasDbXref	Orphanet:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	semapv:ManualMappingCuration
MONDO:0019408	Astley-Kendall dysplasia	oboInOwl:hasDbXref	Orphanet:85175	Astley-Kendall dysplasia	semapv:ManualMappingCuration
MONDO:0019409	idiopathic juvenile osteoporosis	oboInOwl:hasDbXref	Orphanet:85193	Idiopathic juvenile osteoporosis	semapv:ManualMappingCuration
MONDO:0019410	obsolete nodulosis-arthropathy-osteolysis syndrome	oboInOwl:hasDbXref	Orphanet:85196	Nodulosis-arthropathy-osteolysis syndrome	semapv:ManualMappingCuration
MONDO:0019411	genochondromatosis type 1	oboInOwl:hasDbXref	Orphanet:85197	Genochondromatosis type 1	semapv:ManualMappingCuration
MONDO:0019412	dysspondyloenchondromatosis	oboInOwl:hasDbXref	Orphanet:85198	Dysspondyloenchondromatosis	semapv:ManualMappingCuration
MONDO:0019413	ischio-vertebral syndrome	oboInOwl:hasDbXref	Orphanet:85200	Ischio-vertebral syndrome	semapv:ManualMappingCuration
MONDO:0019414	BRESEK syndrome	oboInOwl:hasDbXref	Orphanet:85284	BRESEK syndrome	semapv:ManualMappingCuration
MONDO:0019415	fetal and neonatal alloimmune thrombocytopenia	oboInOwl:hasDbXref	Orphanet:853	Fetal and neonatal alloimmune thrombocytopenia	semapv:ManualMappingCuration
MONDO:0019416	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	oboInOwl:hasDbXref	Orphanet:85317	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	semapv:ManualMappingCuration
MONDO:0019417	X-linked intellectual disability-precocious puberty-obesity syndrome	oboInOwl:hasDbXref	Orphanet:85318	OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome	semapv:ManualMappingCuration
MONDO:0019418	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:85319	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0019419	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	oboInOwl:hasDbXref	Orphanet:85320	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	semapv:ManualMappingCuration
MONDO:0019420	X-linked intellectual disability, Pai type	oboInOwl:hasDbXref	Orphanet:85322	X-linked intellectual disability, Pai type	semapv:ManualMappingCuration
MONDO:0019421	X-linked intellectual disability, Seemanova type	oboInOwl:hasDbXref	Orphanet:85323	X-linked intellectual disability, Seemanova type	semapv:ManualMappingCuration
MONDO:0019422	X-linked intellectual disability, Stevenson type	oboInOwl:hasDbXref	Orphanet:85325	X-linked intellectual disability, Stevenson type	semapv:ManualMappingCuration
MONDO:0019423	X-linked intellectual disability, Stoll type	oboInOwl:hasDbXref	Orphanet:85326	X-linked intellectual disability, Stoll type	semapv:ManualMappingCuration
MONDO:0019424	X-linked intellectual disability-acromegaly-hyperactivity syndrome	oboInOwl:hasDbXref	Orphanet:85327	X-linked intellectual disability-acromegaly-hyperactivity syndrome	semapv:ManualMappingCuration
MONDO:0019426	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	oboInOwl:hasDbXref	Orphanet:85330	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	semapv:ManualMappingCuration
MONDO:0019427	X-linked neurodegenerative syndrome, Bertini type	oboInOwl:hasDbXref	Orphanet:85334	X-linked neurodegenerative syndrome, Bertini type	semapv:ManualMappingCuration
MONDO:0019428	fried syndrome	oboInOwl:hasDbXref	Orphanet:85335	Fried syndrome	semapv:ManualMappingCuration
MONDO:0019429	X-linked neurodegenerative syndrome, Hamel type	oboInOwl:hasDbXref	Orphanet:85336	X-linked neurodegenerative syndrome, Hamel type	semapv:ManualMappingCuration
MONDO:0019430	X-linked intellectual disability-ataxia-apraxia syndrome	oboInOwl:hasDbXref	Orphanet:85338	X-linked intellectual disability-ataxia-apraxia syndrome	semapv:ManualMappingCuration
MONDO:0019431	primitive portal vein thrombosis	oboInOwl:hasDbXref	Orphanet:854	Non-malignant and non-cirrhotic portal vein thrombosis	semapv:ManualMappingCuration
MONDO:0019432	rheumatoid factor-negative juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019433	oligoarticular juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:85410	Oligoarticular juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019434	systemic-onset juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:85414	Systemic-onset juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019435	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:85435	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019436	psoriasis-related juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:85436	Psoriasis-related juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019437	enthesitis-related juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:85438	Enthesitis-related juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019438	AL amyloidosis	oboInOwl:hasDbXref	Orphanet:85443	AL amyloidosis	semapv:ManualMappingCuration
MONDO:0019439	AA amyloidosis	oboInOwl:hasDbXref	Orphanet:85445	AA amyloidosis	semapv:ManualMappingCuration
MONDO:0019440	wild type ABeta2M amyloidosis	oboInOwl:hasDbXref	Orphanet:85446	Wild type ABeta2M amyloidosis	semapv:ManualMappingCuration
MONDO:0019441	ATTRV122I amyloidosis	oboInOwl:hasDbXref	Orphanet:85451	ATTRV122I amyloidosis	semapv:ManualMappingCuration
MONDO:0019443	dextro-looped transposition of the great arteries	oboInOwl:hasDbXref	Orphanet:860	Congenitally uncorrected transposition of the great arteries	semapv:ManualMappingCuration
MONDO:0019444	trichinellosis	oboInOwl:hasDbXref	Orphanet:863	Trichinellosis	semapv:ManualMappingCuration
MONDO:0019445	trichofolliculoma	oboInOwl:hasDbXref	Orphanet:864	Trichofolliculoma	semapv:ManualMappingCuration
MONDO:0019446	localized lichen myxedematosus	oboInOwl:hasDbXref	Orphanet:86795	Localized lichen myxedematosus	semapv:ManualMappingCuration
MONDO:0019447	atypical lichen myxedematosus	oboInOwl:hasDbXref	Orphanet:86797	Atypical lichen myxedematosus	semapv:ManualMappingCuration
MONDO:0019448	benign adult familial myoclonic epilepsy	oboInOwl:hasDbXref	Orphanet:86814	Benign adult familial myoclonic epilepsy	semapv:ManualMappingCuration
MONDO:0019449	lissencephaly type 3-familial fetal akinesia sequence syndrome	oboInOwl:hasDbXref	Orphanet:86821	Lissencephaly type 3-familial fetal akinesia sequence syndrome	semapv:ManualMappingCuration
MONDO:0019450	lissencephaly with cerebellar hypoplasia	oboInOwl:hasDbXref	Orphanet:86823	Lissencephaly with cerebellar hypoplasia	semapv:ManualMappingCuration
MONDO:0019451	chronic neutrophilic leukemia	oboInOwl:hasDbXref	Orphanet:86829	Chronic neutrophilic leukemia	semapv:ManualMappingCuration
MONDO:0019452	myeloproliferative neoplasm, unclassifiable	oboInOwl:hasDbXref	Orphanet:86830	Chronic myeloproliferative disease, unclassifiable	semapv:ManualMappingCuration
MONDO:0019453	myelodysplastic syndrome with multilineage dysplasia	oboInOwl:hasDbXref	Orphanet:86836	Refractory cytopenia with multilineage dysplasia	semapv:ManualMappingCuration
MONDO:0019454	myelodysplastic syndrome with excess blasts	oboInOwl:hasDbXref	Orphanet:86839	Myelodysplastic neoplasm with increased blasts	semapv:ManualMappingCuration
MONDO:0019455	acute panmyelosis with myelofibrosis	oboInOwl:hasDbXref	Orphanet:86843	Acute panmyelosis with myelofibrosis	semapv:ManualMappingCuration
MONDO:0019456	acute myeloid leukemia with multilineage dysplasia	oboInOwl:hasDbXref	Orphanet:86845	Acute myeloid leukaemia with myelodysplasia-related features	semapv:ManualMappingCuration
MONDO:0019457	therapy related acute myeloid leukemia and myelodysplastic syndrome	oboInOwl:hasDbXref	Orphanet:86846	Therapy related acute myeloid leukemia and myelodysplastic syndrome	semapv:ManualMappingCuration
MONDO:0019458	acute basophilic leukemia	oboInOwl:hasDbXref	Orphanet:86849	Acute basophilic leukemia	semapv:ManualMappingCuration
MONDO:0019460	acute leukemia of ambiguous lineage	oboInOwl:hasDbXref	Orphanet:86851	Acute leukemia of ambiguous lineage	semapv:ManualMappingCuration
MONDO:0019461	B-cell prolymphocytic leukemia	oboInOwl:hasDbXref	Orphanet:86852	B-cell prolymphocytic leukemia	semapv:ManualMappingCuration
MONDO:0019462	splenic marginal zone lymphoma	oboInOwl:hasDbXref	Orphanet:86854	Splenic marginal zone lymphoma	semapv:ManualMappingCuration
MONDO:0019463	non-amyloid monoclonal immunoglobulin deposition disease	oboInOwl:hasDbXref	Orphanet:86861	Non-amyloid monoclonal immunoglobulin deposition disease	semapv:ManualMappingCuration
MONDO:0019464	heavy chain disease	oboInOwl:hasDbXref	Orphanet:86864	Heavy chain disease	semapv:ManualMappingCuration
MONDO:0019465	nodal marginal zone B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:86867	Nodal marginal zone B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0019466	lymphomatoid granulomatosis	oboInOwl:hasDbXref	Orphanet:86869	Lymphomatoid granulomatosis	semapv:ManualMappingCuration
MONDO:0019467	CD4+/CD56+ hematodermic neoplasm	oboInOwl:hasDbXref	Orphanet:86870	Blastic plasmacytoid dendritic cell neoplasm	semapv:ManualMappingCuration
MONDO:0019468	T-cell prolymphocytic leukemia	oboInOwl:hasDbXref	Orphanet:86871	T-cell prolymphocytic leukemia	semapv:ManualMappingCuration
MONDO:0019469	T-cell large granular lymphocyte leukemia	oboInOwl:hasDbXref	Orphanet:86872	T-cell large granular lymphocyte leukemia	semapv:ManualMappingCuration
MONDO:0019470	aggressive NK-cell leukemia	oboInOwl:hasDbXref	Orphanet:86873	Aggressive NK-cell leukemia	semapv:ManualMappingCuration
MONDO:0019471	adult T-cell leukemia/lymphoma	oboInOwl:hasDbXref	Orphanet:86875	Adult T-cell leukemia/lymphoma	semapv:ManualMappingCuration
MONDO:0019472	extranodal nasal NK/T cell lymphoma	oboInOwl:hasDbXref	Orphanet:86879	Extranodal nasal NK/T cell lymphoma	semapv:ManualMappingCuration
MONDO:0019473	enteropathy-associated T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:86880	Enteropathy-associated T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0019474	hepatosplenic T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:86882	Hepatosplenic T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0019475	subcutaneous panniculitis-like T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:86884	Subcutaneous panniculitis-like T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0019476	primary cutaneous peripheral T-cell lymphoma not otherwise specified	oboInOwl:hasDbXref	Orphanet:86885	Primary cutaneous peripheral T-cell lymphoma not otherwise specified	semapv:ManualMappingCuration
MONDO:0019479	histiocytic sarcoma	oboInOwl:hasDbXref	Orphanet:86896	Histiocytic sarcoma	semapv:ManualMappingCuration
MONDO:0019480	Langerhans cell sarcoma	oboInOwl:hasDbXref	Orphanet:86897	Langerhans cell sarcoma	semapv:ManualMappingCuration
MONDO:0019483	methotrexate-associated lymphoproliferative disorders	oboInOwl:hasDbXref	Orphanet:86904	Methotrexate-associated lymphoproliferative disorders	semapv:ManualMappingCuration
MONDO:0019484	hypothalamic hamartomas with gelastic seizures	oboInOwl:hasDbXref	Orphanet:86906	Hypothalamic hamartomas with gelastic seizures	semapv:ManualMappingCuration
MONDO:0019485	idiopathic hemiconvulsion-hemiplegia syndrome	oboInOwl:hasDbXref	Orphanet:86908	Hemiconvulsion-hemiplegia-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0019487	epilepsy with myoclonic absences	oboInOwl:hasDbXref	Orphanet:86911	Epilepsy with myoclonic absences	semapv:ManualMappingCuration
MONDO:0019488	myoclonic epilepsy in non-progressive encephalopathies	oboInOwl:hasDbXref	Orphanet:86913	Myoclonic epilepsy in non-progressive encephalopathies	semapv:ManualMappingCuration
MONDO:0019489	diffuse palmoplantar keratoderma - acrocyanosis syndrome	oboInOwl:hasDbXref	Orphanet:86918	Diffuse palmoplantar keratoderma-acrocyanosis syndrome	semapv:ManualMappingCuration
MONDO:0019490	progressive familial heart block	oboInOwl:hasDbXref	Orphanet:871	Familial progressive cardiac conduction defect	semapv:ManualMappingCuration
MONDO:0019491	obsolete rare intellectual disability	oboInOwl:hasDbXref	Orphanet:87277	Rare intellectual disability	semapv:ManualMappingCuration
MONDO:0019493	primary adult heart tumor	oboInOwl:hasDbXref	Orphanet:874	Primary adult heart tumor	semapv:ManualMappingCuration
MONDO:0019494	primary pediatric heart tumor	oboInOwl:hasDbXref	Orphanet:875	Primary pediatric heart tumor	semapv:ManualMappingCuration
MONDO:0019496	neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:877	Neuroendocrine neoplasm	semapv:ManualMappingCuration
MONDO:0019497	nonsyndromic genetic hearing loss	oboInOwl:hasDbXref	Orphanet:87884	Non-syndromic genetic deafness	semapv:ManualMappingCuration
MONDO:0019498	tungiasis	oboInOwl:hasDbXref	Orphanet:879	Tungiasis	semapv:ManualMappingCuration
MONDO:0019499	Turner syndrome	oboInOwl:hasDbXref	Orphanet:881	Turner syndrome	semapv:ManualMappingCuration
MONDO:0019500	extragonadal teratoma	oboInOwl:hasDbXref	Orphanet:883	Extragonadal teratoma	semapv:ManualMappingCuration
MONDO:0019501	Usher syndrome	oboInOwl:hasDbXref	Orphanet:886	Usher syndrome	semapv:ManualMappingCuration
MONDO:0019502	autosomal recessive non-syndromic intellectual disability	oboInOwl:hasDbXref	Orphanet:88616	Autosomal recessive non-syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0019503	anterior segment dysgenesis	oboInOwl:hasDbXref	Orphanet:88632	Anterior segment developmental anomaly	semapv:ManualMappingCuration
MONDO:0019504	superior limbic keratoconjunctivitis	oboInOwl:hasDbXref	Orphanet:88633	Superior limbic keratoconjunctivitis	semapv:ManualMappingCuration
MONDO:0019505	obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	oboInOwl:hasDbXref	Orphanet:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	semapv:ManualMappingCuration
MONDO:0019506	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:88643	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0019507	amelogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:88661	Amelogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0019508	van der Woude syndrome	oboInOwl:hasDbXref	Orphanet:888	Van der Woude syndrome	semapv:ManualMappingCuration
MONDO:0019509	cutaneous leukocytoclastic angiitis	oboInOwl:hasDbXref	Orphanet:889	Cutaneous small vessel vasculitis	semapv:ManualMappingCuration
MONDO:0019512	congenital heart malformation	oboInOwl:hasDbXref	Orphanet:88991	Rare congenital non-syndromic heart malformation	semapv:ManualMappingCuration
MONDO:0019513	obsolete esophageal malformation	oboInOwl:hasDbXref	Orphanet:88993	Esophageal malformation	semapv:ManualMappingCuration
MONDO:0019514	hepatic veno-occlusive disease	oboInOwl:hasDbXref	Orphanet:890	Hepatic veno-occlusive disease	semapv:ManualMappingCuration
MONDO:0019515	obsolete rare dementia	oboInOwl:hasDbXref	Orphanet:89043	Rare dementia	semapv:ManualMappingCuration
MONDO:0019516	exudative vitreoretinopathy	oboInOwl:hasDbXref	Orphanet:891	Familial exudative vitreoretinopathy	semapv:ManualMappingCuration
MONDO:0019517	Waardenburg syndrome type 2	oboInOwl:hasDbXref	Orphanet:895	Waardenburg syndrome type 2	semapv:ManualMappingCuration
MONDO:0019518	Waardenburg-Shah syndrome	oboInOwl:hasDbXref	Orphanet:897	Waardenburg-Shah syndrome	semapv:ManualMappingCuration
MONDO:0019519	obsolete rare skin disease	oboInOwl:hasDbXref	Orphanet:89826	Rare skin disease	semapv:ManualMappingCuration
MONDO:0019520	obsolete syndromic lymphedema	oboInOwl:hasDbXref	Orphanet:89832	OBSOLETE: Syndromic lymphedema	semapv:ManualMappingCuration
MONDO:0019521	centripetalis recessive dystrophic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:89841	OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0019522	recessive dystrophic epidermolysis bullosa-generalized other	oboInOwl:hasDbXref	Orphanet:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	semapv:ManualMappingCuration
MONDO:0019524	Bartter syndrome type 4	oboInOwl:hasDbXref	Orphanet:89938	Bartter syndrome type 4	semapv:ManualMappingCuration
MONDO:0019525	tetrasomy X	oboInOwl:hasDbXref	Orphanet:9	Tetrasomy X syndrome	semapv:ManualMappingCuration
MONDO:0019526	erythema elevatum diutinum	oboInOwl:hasDbXref	Orphanet:90000	Erythema elevatum diutinum	semapv:ManualMappingCuration
MONDO:0019527	undifferentiated connective tissue syndrome	oboInOwl:hasDbXref	Orphanet:90002	Undifferentiated connective tissue syndrome	semapv:ManualMappingCuration
MONDO:0019528	inflammatory pseudotumor of the liver	oboInOwl:hasDbXref	Orphanet:90003	Inflammatory pseudotumor of the liver	semapv:ManualMappingCuration
MONDO:0019529	radiation myelitis	oboInOwl:hasDbXref	Orphanet:90021	Radiation myelitis	semapv:ManualMappingCuration
MONDO:0019530	non-syndromic syndactyly	oboInOwl:hasDbXref	Orphanet:90025	Non-syndromic syndactyly	semapv:ManualMappingCuration
MONDO:0019531	hemolytic anemia due to glutathione reductase deficiency	oboInOwl:hasDbXref	Orphanet:90030	Hemolytic anemia due to glutathione reductase deficiency	semapv:ManualMappingCuration
MONDO:0019532	autoimmune hemolytic anemia, warm type	oboInOwl:hasDbXref	Orphanet:90033	Autoimmune hemolytic anemia, warm type	semapv:ManualMappingCuration
MONDO:0019533	paroxysmal cold hemoglobinuria	oboInOwl:hasDbXref	Orphanet:90035	Paroxysmal cold hemoglobinuria	semapv:ManualMappingCuration
MONDO:0019534	mixed-type autoimmune hemolytic anemia	oboInOwl:hasDbXref	Orphanet:90036	Mixed-type autoimmune hemolytic anemia	semapv:ManualMappingCuration
MONDO:0019535	drug-induced autoimmune hemolytic anemia	oboInOwl:hasDbXref	Orphanet:90037	Drug-induced autoimmune hemolytic anemia	semapv:ManualMappingCuration
MONDO:0019536	Shiga toxin-associated hemolytic uremic syndrome	oboInOwl:hasDbXref	Orphanet:90038	Shiga toxin-associated hemolytic uremic syndrome	semapv:ManualMappingCuration
MONDO:0019537	hemoglobin D disease	oboInOwl:hasDbXref	Orphanet:90039	Hemoglobin D disease	semapv:ManualMappingCuration
MONDO:0019538	Gaisbock syndrome	oboInOwl:hasDbXref	Orphanet:90041	Gaisböck syndrome	semapv:ManualMappingCuration
MONDO:0019540	diffuse alveolar hemorrhage	oboInOwl:hasDbXref	Orphanet:90060	Diffuse alveolar hemorrhage	semapv:ManualMappingCuration
MONDO:0019541	obsolete non-infectious posterior uveitis	oboInOwl:hasDbXref	Orphanet:90061	Non-infectious posterior uveitis	semapv:ManualMappingCuration
MONDO:0019542	acute liver failure	oboInOwl:hasDbXref	Orphanet:90062	Acute liver failure	semapv:ManualMappingCuration
MONDO:0019543	acquired aneurysmal subarachnoid hemorrhage	oboInOwl:hasDbXref	Orphanet:90065	Acquired aneurysmal subarachnoid hemorrhage	semapv:ManualMappingCuration
MONDO:0019544	cocaine intoxication	oboInOwl:hasDbXref	Orphanet:90068	Cocaine intoxication	semapv:ManualMappingCuration
MONDO:0019545	systemic monochloroacetate poisoning	oboInOwl:hasDbXref	Orphanet:90069	Systemic monochloroacetate poisoning	semapv:ManualMappingCuration
MONDO:0019546	obsolete other acquired skin disease	oboInOwl:hasDbXref	Orphanet:90077	Other acquired skin disease	semapv:ManualMappingCuration
MONDO:0019547	Wells syndrome	oboInOwl:hasDbXref	Orphanet:901	Wells syndrome	semapv:ManualMappingCuration
MONDO:0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease	oboInOwl:hasDbXref	Orphanet:90114	Autosomal dominant intermediate Charcot-Marie-Tooth disease	semapv:ManualMappingCuration
MONDO:0019549	severe early-onset axonal neuropathy due to MFN2 deficiency	oboInOwl:hasDbXref	Orphanet:90118	Severe early-onset axonal neuropathy due to MFN2 deficiency	semapv:ManualMappingCuration
MONDO:0019550	hereditary motor and sensory neuropathy with acrodystrophy	oboInOwl:hasDbXref	Orphanet:90119	Hereditary motor and sensory neuropathy with acrodystrophy	semapv:ManualMappingCuration
MONDO:0019551	hereditary motor and sensory neuropathy type 6	oboInOwl:hasDbXref	Orphanet:90120	Hereditary motor and sensory neuropathy type 6	semapv:ManualMappingCuration
MONDO:0019552	centrifugal lipodystrophy	oboInOwl:hasDbXref	Orphanet:90156	Centrifugal lipodystrophy	semapv:ManualMappingCuration
MONDO:0019553	drug-induced localized lipodystrophy	oboInOwl:hasDbXref	Orphanet:90157	Drug-induced localized lipodystrophy	semapv:ManualMappingCuration
MONDO:0019554	idiopathic localized lipodystrophy	oboInOwl:hasDbXref	Orphanet:90158	Idiopathic localized lipodystrophy	semapv:ManualMappingCuration
MONDO:0019555	panniculitis and localized lipodystrophy	oboInOwl:hasDbXref	Orphanet:90159	Panniculitis-induced localized lipodystrophy	semapv:ManualMappingCuration
MONDO:0019556	pressure-induced localized lipoatrophy	oboInOwl:hasDbXref	Orphanet:90160	Pressure-induced localized lipoatrophy	semapv:ManualMappingCuration
MONDO:0019557	chilblain lupus	oboInOwl:hasDbXref	Orphanet:90280	Chilblain lupus	semapv:ManualMappingCuration
MONDO:0019558	discoid lupus erythematosus	oboInOwl:hasDbXref	Orphanet:90281	Discoid lupus erythematosus	semapv:ManualMappingCuration
MONDO:0019559	hypertrophic or verrucous lupus erythematosus	oboInOwl:hasDbXref	Orphanet:90282	Hypertrophic or verrucous lupus erythematosus	semapv:ManualMappingCuration
MONDO:0019560	lupus erythematosus tumidus	oboInOwl:hasDbXref	Orphanet:90283	Lupus erythematosus tumidus	semapv:ManualMappingCuration
MONDO:0019561	lupus erythematosus panniculitis	oboInOwl:hasDbXref	Orphanet:90285	Lupus erythematosus panniculitis	semapv:ManualMappingCuration
MONDO:0019562	localized scleroderma	oboInOwl:hasDbXref	Orphanet:90289	Localized scleroderma	semapv:ManualMappingCuration
MONDO:0019563	CREST syndrome	oboInOwl:hasDbXref	Orphanet:90290	CREST syndrome	semapv:ManualMappingCuration
MONDO:0019565	hereditary von Willebrand disease	oboInOwl:hasDbXref	Orphanet:903	Von Willebrand disease	semapv:ManualMappingCuration
MONDO:0019567	Ehlers-Danlos syndrome, classic type, 1	oboInOwl:hasDbXref	Orphanet:90309	OBSOLETE: Ehlers-Danlos syndrome type 1	semapv:ManualMappingCuration
MONDO:0019568	Ehlers-Danlos syndrome, classic type, 2	oboInOwl:hasDbXref	Orphanet:90318	OBSOLETE: Ehlers-Danlos syndrome type 2	semapv:ManualMappingCuration
MONDO:0019569	Cockayne syndrome type 1	oboInOwl:hasDbXref	Orphanet:90321	Cockayne syndrome type 1	semapv:ManualMappingCuration
MONDO:0019570	Cockayne syndrome type 2	oboInOwl:hasDbXref	Orphanet:90322	Cockayne syndrome type 2	semapv:ManualMappingCuration
MONDO:0019571	autosomal dominant cutis laxa	oboInOwl:hasDbXref	Orphanet:90348	Autosomal dominant cutis laxa	semapv:ManualMappingCuration
MONDO:0019572	autosomal recessive cutis laxa type 1	oboInOwl:hasDbXref	Orphanet:90349	Autosomal recessive cutis laxa type 1	semapv:ManualMappingCuration
MONDO:0019573	autosomal recessive cutis laxa type 2	oboInOwl:hasDbXref	Orphanet:90350	Autosomal recessive cutis laxa type 2	semapv:ManualMappingCuration
MONDO:0019574	secondary intestinal lymphangiectasia	oboInOwl:hasDbXref	Orphanet:90363	Secondary intestinal lymphangiectasia	semapv:ManualMappingCuration
MONDO:0019575	hypotrichosis simplex of the scalp	oboInOwl:hasDbXref	Orphanet:90368	Hypotrichosis simplex of the scalp	semapv:ManualMappingCuration
MONDO:0019576	telangiectasia macularis eruptiva perstans	oboInOwl:hasDbXref	Orphanet:90389	Telangiectasia macularis eruptiva perstans	semapv:ManualMappingCuration
MONDO:0019577	anonychia-onychodystrophy syndrome	oboInOwl:hasDbXref	Orphanet:90390	Anonychia-onychodystrophy syndrome	semapv:ManualMappingCuration
MONDO:0019578	nodular lichen myxedematosus	oboInOwl:hasDbXref	Orphanet:90393	Nodular lichen myxedematosus	semapv:ManualMappingCuration
MONDO:0019579	discrete papular lichen myxedematosus	oboInOwl:hasDbXref	Orphanet:90394	Discrete papular lichen myxedematosus	semapv:ManualMappingCuration
MONDO:0019580	papular mucinosis of infancy	oboInOwl:hasDbXref	Orphanet:90395	Papular mucinosis of infancy	semapv:ManualMappingCuration
MONDO:0019581	acral persistent papular mucinosis	oboInOwl:hasDbXref	Orphanet:90396	Acral persistent papular mucinosis	semapv:ManualMappingCuration
MONDO:0019582	self-healing papular mucinosis	oboInOwl:hasDbXref	Orphanet:90397	Self-healing papular mucinosis	semapv:ManualMappingCuration
MONDO:0019583	localized lichen myxedematosus with mixed features of different subtypes	oboInOwl:hasDbXref	Orphanet:90398	Localized lichen myxedematosus with mixed features of different subtypes	semapv:ManualMappingCuration
MONDO:0019584	localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	oboInOwl:hasDbXref	Orphanet:90399	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	semapv:ManualMappingCuration
MONDO:0019585	scleromyxedema without monoclonal gammopathy	oboInOwl:hasDbXref	Orphanet:90400	Scleromyxedema without monoclonal gammopathy	semapv:ManualMappingCuration
MONDO:0019586	X-linked nonsyndromic hearing loss	oboInOwl:hasDbXref	Orphanet:90625	Rare X-linked non-syndromic sensorineural deafness type DFN	semapv:ManualMappingCuration
MONDO:0019587	autosomal dominant nonsyndromic hearing loss	oboInOwl:hasDbXref	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA	semapv:ManualMappingCuration
MONDO:0019588	hearing loss, autosomal recessive	oboInOwl:hasDbXref	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB	semapv:ManualMappingCuration
MONDO:0019589	obsolete syndromic genetic hearing loss	oboInOwl:hasDbXref	Orphanet:90642	Syndromic genetic deafness	semapv:ManualMappingCuration
MONDO:0019590	obsolete rare endocrine growth disease	oboInOwl:hasDbXref	Orphanet:90692	Rare endocrine growth disease	semapv:ManualMappingCuration
MONDO:0019591	panhypopituitarism	oboInOwl:hasDbXref	Orphanet:90695	Non-acquired panhypopituitarism	semapv:ManualMappingCuration
MONDO:0019593	obsolete 46,XX disorder of sex development induced by fetal androgens excess	oboInOwl:hasDbXref	Orphanet:90776	46,XX difference of sex development induced by fetal androgens excess	semapv:ManualMappingCuration
MONDO:0019594	obsolete 46,XY disorder of sex development due to a testosterone synthesis defect	oboInOwl:hasDbXref	Orphanet:90783	46,XY difference of sex development due to a testosterone synthesis defect	semapv:ManualMappingCuration
MONDO:0019595	obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	oboInOwl:hasDbXref	Orphanet:90786	46,XY difference of sex development due to adrenal and testicular steroidogenesis defect	semapv:ManualMappingCuration
MONDO:0019596	obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect	oboInOwl:hasDbXref	Orphanet:90787	46,XY difference of sex development due to testicular steroidogenesis defect	semapv:ManualMappingCuration
MONDO:0019597	obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency	oboInOwl:hasDbXref	Orphanet:90796	46,XY difference of sex development due to isolated 17,20-lyase deficiency	semapv:ManualMappingCuration
MONDO:0019599	obsolete primary lipodystrophy	oboInOwl:hasDbXref	Orphanet:90970	Primary lipodystrophy	semapv:ManualMappingCuration
MONDO:0019600	xeroderma pigmentosum	oboInOwl:hasDbXref	Orphanet:910	Xeroderma pigmentosum	semapv:ManualMappingCuration
MONDO:0019601	obsolete autosomal recessive axonal hereditary motor and sensory neuropathy	oboInOwl:hasDbXref	Orphanet:91024	Autosomal recessive axonal hereditary motor and sensory neuropathy	semapv:ManualMappingCuration
MONDO:0019602	obsolete other inborn metabolic disease	oboInOwl:hasDbXref	Orphanet:91088	Other metabolic disease	semapv:ManualMappingCuration
MONDO:0019603	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:91133	OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0019604	acquired monoclonal Ig light chain-associated Fanconi syndrome	oboInOwl:hasDbXref	Orphanet:91136	Acquired monoclonal Ig light chain-associated Fanconi syndrome	semapv:ManualMappingCuration
MONDO:0019605	immunotactoid or fibrillary glomerulopathy	oboInOwl:hasDbXref	Orphanet:91137	Immunotactoid or fibrillary glomerulopathy	semapv:ManualMappingCuration
MONDO:0019606	simple cryoglobulinemia	oboInOwl:hasDbXref	Orphanet:91139	Simple cryoglobulinemia	semapv:ManualMappingCuration
MONDO:0019607	unspecified juvenile idiopathic arthritis	oboInOwl:hasDbXref	Orphanet:91140	Unspecified juvenile idiopathic arthritis	semapv:ManualMappingCuration
MONDO:0019608	obsolete 46,XX disorder of sex development induced by maternal-derived androgen	oboInOwl:hasDbXref	Orphanet:91144	46,XX difference of sex development induced by maternal-derived androgen	semapv:ManualMappingCuration
MONDO:0019609	Zellweger spectrum disorders	oboInOwl:hasDbXref	Orphanet:912	Zellweger syndrome	semapv:ManualMappingCuration
MONDO:0019610	Zollinger-Ellison syndrome	oboInOwl:hasDbXref	Orphanet:913	Zollinger-Ellison syndrome	semapv:ManualMappingCuration
MONDO:0019611	TSH-secreting pituitary adenoma	oboInOwl:hasDbXref	Orphanet:91347	TSH-secreting pituitary adenoma	semapv:ManualMappingCuration
MONDO:0019612	functioning gonadotropic adenoma	oboInOwl:hasDbXref	Orphanet:91348	Functioning gonadotropic adenoma	semapv:ManualMappingCuration
MONDO:0019613	non-functioning pituitary adenoma	oboInOwl:hasDbXref	Orphanet:91349	Non-functioning pituitary adenoma	semapv:ManualMappingCuration
MONDO:0019614	pituitary deficiency due to Rathke's pouch cysts	oboInOwl:hasDbXref	Orphanet:91350	Pituitary deficiency due to Rathke cleft cysts	semapv:ManualMappingCuration
MONDO:0019615	pituitary dermoid and epidermoid cysts	oboInOwl:hasDbXref	Orphanet:91351	Pituitary dermoid and epidermoid cysts	semapv:ManualMappingCuration
MONDO:0019617	pituitary deficiency due to empty sella turcica syndrome	oboInOwl:hasDbXref	Orphanet:91354	Pituitary deficiency due to empty sella turcica syndrome	semapv:ManualMappingCuration
MONDO:0019618	Sheehan syndrome	oboInOwl:hasDbXref	Orphanet:91355	Sheehan syndrome	semapv:ManualMappingCuration
MONDO:0019619	obsolete duplication of the esophagus	oboInOwl:hasDbXref	Orphanet:91357	Duplication of the esophagus	semapv:ManualMappingCuration
MONDO:0019620	congenital esophageal diverticulum	oboInOwl:hasDbXref	Orphanet:91358	Congenital esophageal diverticulum	semapv:ManualMappingCuration
MONDO:0019621	chronic pneumonitis of infancy	oboInOwl:hasDbXref	Orphanet:91359	Chronic pneumonitis of infancy	semapv:ManualMappingCuration
MONDO:0019622	non-specific interstitial pneumonia	oboInOwl:hasDbXref	Orphanet:91364	Non-specific interstitial pneumonia	semapv:ManualMappingCuration
MONDO:0019623	hereditary angioedema	oboInOwl:hasDbXref	Orphanet:91378	Hereditary angioedema	semapv:ManualMappingCuration
MONDO:0019624	acquired angioedema	oboInOwl:hasDbXref	Orphanet:91385	Acquired angioedema	semapv:ManualMappingCuration
MONDO:0019625	familial thoracic aortic aneurysm and aortic dissection	oboInOwl:hasDbXref	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection	semapv:ManualMappingCuration
MONDO:0019626	isolated ankyloblepharon filiforme adnatum	oboInOwl:hasDbXref	Orphanet:91397	Isolated ankyloblepharon filiforme adnatum	semapv:ManualMappingCuration
MONDO:0019627	isolated congenital alacrima	oboInOwl:hasDbXref	Orphanet:91416	Isolated congenital alacrima	semapv:ManualMappingCuration
MONDO:0019628	Rieger anomaly	oboInOwl:hasDbXref	Orphanet:91483	Rieger anomaly	semapv:ManualMappingCuration
MONDO:0019629	sclerocornea	oboInOwl:hasDbXref	Orphanet:91490	Isolated congenital sclerocornea	semapv:ManualMappingCuration
MONDO:0019630	congenital ectropion uveae	oboInOwl:hasDbXref	Orphanet:91491	Congenital ectropion uveae	semapv:ManualMappingCuration
MONDO:0019631	persistent hyperplastic primary vitreous	oboInOwl:hasDbXref	Orphanet:91495	Persistent hyperplastic primary vitreous	semapv:ManualMappingCuration
MONDO:0019632	Lyme disease	oboInOwl:hasDbXref	Orphanet:91546	Lyme disease	semapv:ManualMappingCuration
MONDO:0019633	relapsing fever	oboInOwl:hasDbXref	Orphanet:91547	Relapsing fever	semapv:ManualMappingCuration
MONDO:0019634	familial nasal acilia	oboInOwl:hasDbXref	Orphanet:922	Familial nasal acilia	semapv:ManualMappingCuration
MONDO:0019635	idiopathic achalasia	oboInOwl:hasDbXref	Orphanet:930	Idiopathic achalasia	semapv:ManualMappingCuration
MONDO:0019636	renal agenesis, unilateral	oboInOwl:hasDbXref	Orphanet:93100	Renal agenesis, unilateral	semapv:ManualMappingCuration
MONDO:0019637	renal hypoplasia	oboInOwl:hasDbXref	Orphanet:93101	Renal hypoplasia	semapv:ManualMappingCuration
MONDO:0019638	renal dysplasia	oboInOwl:hasDbXref	Orphanet:93108	Renal dysplasia	semapv:ManualMappingCuration
MONDO:0019639	congenital megacalycosis	oboInOwl:hasDbXref	Orphanet:93109	Congenital megacalycosis	semapv:ManualMappingCuration
MONDO:0019640	posterior urethral valve	oboInOwl:hasDbXref	Orphanet:93110	Posterior urethral valve	semapv:ManualMappingCuration
MONDO:0019641	Pauci-immune glomerulonephritis	oboInOwl:hasDbXref	Orphanet:93126	Pauci-immune glomerulonephritis	semapv:ManualMappingCuration
MONDO:0019642	vitamin D-dependent rickets, type 2	oboInOwl:hasDbXref	Orphanet:93160	Hypocalcemic vitamin D-resistant rickets	semapv:ManualMappingCuration
MONDO:0019643	transient pseudohypoaldosteronism	oboInOwl:hasDbXref	Orphanet:93164	Transient pseudohypoaldosteronism	semapv:ManualMappingCuration
MONDO:0019644	renal dysplasia, unilateral	oboInOwl:hasDbXref	Orphanet:93172	Renal dysplasia, unilateral	semapv:ManualMappingCuration
MONDO:0019645	renal dysplasia, bilateral	oboInOwl:hasDbXref	Orphanet:93173	Renal dysplasia, bilateral	semapv:ManualMappingCuration
MONDO:0019646	unilateral congenital megacalycosis	oboInOwl:hasDbXref	Orphanet:93176	Unilateral congenital megacalycosis	semapv:ManualMappingCuration
MONDO:0019647	congenital bilateral megacalycosis	oboInOwl:hasDbXref	Orphanet:93177	Congenital bilateral megacalycosis	semapv:ManualMappingCuration
MONDO:0019648	achondrogenesis	oboInOwl:hasDbXref	Orphanet:932	Achondrogenesis	semapv:ManualMappingCuration
MONDO:0019649	idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis	oboInOwl:hasDbXref	Orphanet:93206	OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis	semapv:ManualMappingCuration
MONDO:0019650	idiopathic steroid-sensitive nephrotic syndrome with minimal change	oboInOwl:hasDbXref	Orphanet:93207	OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change	semapv:ManualMappingCuration
MONDO:0019651	idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation	oboInOwl:hasDbXref	Orphanet:93209	OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation	semapv:ManualMappingCuration
MONDO:0019652	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	oboInOwl:hasDbXref	Orphanet:93214	OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	semapv:ManualMappingCuration
MONDO:0019653	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes	oboInOwl:hasDbXref	Orphanet:93216	OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes	semapv:ManualMappingCuration
MONDO:0019654	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	oboInOwl:hasDbXref	Orphanet:93217	OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	semapv:ManualMappingCuration
MONDO:0019655	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	oboInOwl:hasDbXref	Orphanet:93218	OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	semapv:ManualMappingCuration
MONDO:0019656	sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	oboInOwl:hasDbXref	Orphanet:93220	OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	semapv:ManualMappingCuration
MONDO:0019657	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes	oboInOwl:hasDbXref	Orphanet:93221	OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes	semapv:ManualMappingCuration
MONDO:0019658	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	oboInOwl:hasDbXref	Orphanet:93222	OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	semapv:ManualMappingCuration
MONDO:0019659	Pfeiffer syndrome type 1	oboInOwl:hasDbXref	Orphanet:93258	Pfeiffer syndrome type 1	semapv:ManualMappingCuration
MONDO:0019660	Pfeiffer syndrome type 2	oboInOwl:hasDbXref	Orphanet:93259	Pfeiffer syndrome type 2	semapv:ManualMappingCuration
MONDO:0019661	Pfeiffer syndrome type 3	oboInOwl:hasDbXref	Orphanet:93260	Pfeiffer syndrome type 3	semapv:ManualMappingCuration
MONDO:0019662	short rib-polydactyly syndrome, Majewski type	oboInOwl:hasDbXref	Orphanet:93269	Short rib-polydactyly syndrome, Majewski type	semapv:ManualMappingCuration
MONDO:0019665	monostotic fibrous dysplasia	oboInOwl:hasDbXref	Orphanet:93277	Monostotic fibrous dysplasia	semapv:ManualMappingCuration
MONDO:0019666	spondyloepimetaphyseal dysplasia, PAPSS2 type	oboInOwl:hasDbXref	Orphanet:93282	Spondyloepimetaphyseal dysplasia, PAPSS2 type	semapv:ManualMappingCuration
MONDO:0019667	spondyloepiphyseal dysplasia tarda	oboInOwl:hasDbXref	Orphanet:93284	Spondyloepiphyseal dysplasia tarda	semapv:ManualMappingCuration
MONDO:0019668	adenoma of pancreas	oboInOwl:hasDbXref	Orphanet:93292	Adenoma of pancreas	semapv:ManualMappingCuration
MONDO:0019669	hypochondrogenesis	oboInOwl:hasDbXref	Orphanet:93297	Hypochondrogenesis	semapv:ManualMappingCuration
MONDO:0019670	ulnar hemimelia	oboInOwl:hasDbXref	Orphanet:93320	Isolated ulnar hemimelia	semapv:ManualMappingCuration
MONDO:0019671	radial hemimelia	oboInOwl:hasDbXref	Orphanet:93321	Isolated radial hemimelia	semapv:ManualMappingCuration
MONDO:0019672	fibular hemimelia	oboInOwl:hasDbXref	Orphanet:93323	Isolated fibular hemimelia	semapv:ManualMappingCuration
MONDO:0019673	postaxial polydactyly type A	oboInOwl:hasDbXref	Orphanet:93334	Postaxial polydactyly type A	semapv:ManualMappingCuration
MONDO:0019674	postaxial polydactyly type B	oboInOwl:hasDbXref	Orphanet:93335	Postaxial polydactyly type B	semapv:ManualMappingCuration
MONDO:0019675	spondyloepimetaphyseal dysplasia with joint laxity	oboInOwl:hasDbXref	Orphanet:93359	OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity	semapv:ManualMappingCuration
MONDO:0019676	brachydactyly type B	oboInOwl:hasDbXref	Orphanet:93383	Brachydactyly type B	semapv:ManualMappingCuration
MONDO:0019677	brachydactyly type E	oboInOwl:hasDbXref	Orphanet:93387	Brachydactyly type E	semapv:ManualMappingCuration
MONDO:0019678	brachydactyly type A5	oboInOwl:hasDbXref	Orphanet:93389	Brachydactyly type A5	semapv:ManualMappingCuration
MONDO:0019679	brachydactyly type A7	oboInOwl:hasDbXref	Orphanet:93397	Brachydactyly type A7	semapv:ManualMappingCuration
MONDO:0019680	genochondromatosis type 2	oboInOwl:hasDbXref	Orphanet:93398	Genochondromatosis type 2	semapv:ManualMappingCuration
MONDO:0019681	juvenile sialidosis type 2	oboInOwl:hasDbXref	Orphanet:93399	Juvenile sialidosis type 2	semapv:ManualMappingCuration
MONDO:0019682	congenital sialidosis type 2	oboInOwl:hasDbXref	Orphanet:93400	Congenital sialidosis type 2	semapv:ManualMappingCuration
MONDO:0019684	obsolete rare bone disease	oboInOwl:hasDbXref	Orphanet:93419	Rare bone disease	semapv:ManualMappingCuration
MONDO:0019685	FGFR3-related chondrodysplasia	oboInOwl:hasDbXref	Orphanet:93420	FGFR3-related chondrodysplasia	semapv:ManualMappingCuration
MONDO:0019688	obsolete sulfation-related bone disorder	oboInOwl:hasDbXref	Orphanet:93423	Sulfation-related bone disorder	semapv:ManualMappingCuration
MONDO:0019689	obsolete perlecan-related bone disorder	oboInOwl:hasDbXref	Orphanet:93424	OBSOLETE: Perlecan-related bone disorder	semapv:ManualMappingCuration
MONDO:0019690	filamin-related bone disorder	oboInOwl:hasDbXref	Orphanet:93425	Filamin-related bone disorder	semapv:ManualMappingCuration
MONDO:0019691	short rib dysplasia	oboInOwl:hasDbXref	Orphanet:93426	Ciliopathies with major skeletal involvement	semapv:ManualMappingCuration
MONDO:0019692	obsolete multiple epiphyseal dysplasia and pseudoachondroplasia	oboInOwl:hasDbXref	Orphanet:93429	Multiple epiphyseal dysplasia and pseudoachondroplasia	semapv:ManualMappingCuration
MONDO:0019693	obsolete multiple metaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:93430	Multiple metaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0019694	spondylodysplastic dysplasia	oboInOwl:hasDbXref	Orphanet:93434	Spondylodysplastic dysplasia	semapv:ManualMappingCuration
MONDO:0019695	acromelic dysplasia	oboInOwl:hasDbXref	Orphanet:93436	Acromelic dysplasia	semapv:ManualMappingCuration
MONDO:0019696	acromesomelic dysplasia	oboInOwl:hasDbXref	Orphanet:93437	Acromesomelic dysplasia	semapv:ManualMappingCuration
MONDO:0019697	obsolete mesomelic and rhizo-mesomelic dysplasia	oboInOwl:hasDbXref	Orphanet:93438	Mesomelic and rhizo-mesomelic dysplasia	semapv:ManualMappingCuration
MONDO:0019698	bent bone dysplasia	oboInOwl:hasDbXref	Orphanet:93439	Campomelic dysplasia and related disorders	semapv:ManualMappingCuration
MONDO:0019699	obsolete slender bone dysplasia	oboInOwl:hasDbXref	Orphanet:93440	Slender bone dysplasia	semapv:ManualMappingCuration
MONDO:0019701	chondrodysplasia punctata	oboInOwl:hasDbXref	Orphanet:93442	Chondrodysplasia punctata	semapv:ManualMappingCuration
MONDO:0019702	neonatal osteosclerotic dysplasia	oboInOwl:hasDbXref	Orphanet:93443	Neonatal osteosclerotic dysplasia	semapv:ManualMappingCuration
MONDO:0019704	obsolete primary bone dysplasia with decreased bone density	oboInOwl:hasDbXref	Orphanet:93446	Primary bone dysplasia with decreased bone density	semapv:ManualMappingCuration
MONDO:0019705	obsolete primary bone dysplasia with defective bone mineralization	oboInOwl:hasDbXref	Orphanet:93447	Primary bone dysplasia with defective bone mineralization	semapv:ManualMappingCuration
MONDO:0019707	primary osteolysis	oboInOwl:hasDbXref	Orphanet:93449	Primary osteolysis	semapv:ManualMappingCuration
MONDO:0019709	obsolete cleidocranial dysplasia and isolated cranial ossification defect	oboInOwl:hasDbXref	Orphanet:93451	Cleidocranial dysplasia and isolated cranial ossification defect	semapv:ManualMappingCuration
MONDO:0019711	obsolete dysostosis with predominant vertebral and costal involvement	oboInOwl:hasDbXref	Orphanet:93454	Dysostosis with predominant vertebral and costal involvement	semapv:ManualMappingCuration
MONDO:0019712	obsolete patellar dysostosis	oboInOwl:hasDbXref	Orphanet:93455	Patellar dysostosis	semapv:ManualMappingCuration
MONDO:0019713	non-syndromic limb reduction defect	oboInOwl:hasDbXref	Orphanet:93457	Non-syndromic limb reduction defect	semapv:ManualMappingCuration
MONDO:0019714	obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy	oboInOwl:hasDbXref	Orphanet:93458	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	semapv:ManualMappingCuration
MONDO:0019716	overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:93460	Overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0019717	obsolete chromosomal disease with overgrowth	oboInOwl:hasDbXref	Orphanet:93461	Chromosomal disease with overgrowth	semapv:ManualMappingCuration
MONDO:0019718	obsolete lethal chondrodysplasia	oboInOwl:hasDbXref	Orphanet:93465	Lethal chondrodysplasia	semapv:ManualMappingCuration
MONDO:0019719	congenital anomaly of kidney and urinary tract	oboInOwl:hasDbXref	Orphanet:93545	Renal or urinary tract malformation	semapv:ManualMappingCuration
MONDO:0019720	obsolete non-syndromic renal or urinary tract malformation	oboInOwl:hasDbXref	Orphanet:93546	Non-syndromic renal or urinary tract malformation	semapv:ManualMappingCuration
MONDO:0019721	obsolete syndromic renal or urinary tract malformation	oboInOwl:hasDbXref	Orphanet:93547	Syndromic renal or urinary tract malformation	semapv:ManualMappingCuration
MONDO:0019722	glomerular disorder	oboInOwl:hasDbXref	Orphanet:93548	Glomerular disease	semapv:ManualMappingCuration
MONDO:0019723	obsolete disease of glomerular basement membrane	oboInOwl:hasDbXref	Orphanet:93550	OBSOLETE: Basement membrane disease	semapv:ManualMappingCuration
MONDO:0019724	obsolete secondary glomerular disease	oboInOwl:hasDbXref	Orphanet:93551	OBSOLETE: Secondary glomerular disease	semapv:ManualMappingCuration
MONDO:0019725	pediatric systemic lupus erythematosus	oboInOwl:hasDbXref	Orphanet:93552	Pediatric systemic lupus erythematosus	semapv:ManualMappingCuration
MONDO:0019726	type II mixed cryoglobulinemia	oboInOwl:hasDbXref	Orphanet:93554	Mixed cryoglobulinemia type II	semapv:ManualMappingCuration
MONDO:0019727	mixed cryoglobulinemia type III	oboInOwl:hasDbXref	Orphanet:93555	Mixed cryoglobulinemia type III	semapv:ManualMappingCuration
MONDO:0019728	heavy chain deposition disease	oboInOwl:hasDbXref	Orphanet:93556	Heavy chain deposition disease	semapv:ManualMappingCuration
MONDO:0019729	light and heavy chain deposition disease	oboInOwl:hasDbXref	Orphanet:93557	Light and heavy chain deposition disease	semapv:ManualMappingCuration
MONDO:0019730	light chain deposition disease	oboInOwl:hasDbXref	Orphanet:93558	Light chain deposition disease	semapv:ManualMappingCuration
MONDO:0019731	AApoAI amyloidosis	oboInOwl:hasDbXref	Orphanet:93560	AApoAI amyloidosis	semapv:ManualMappingCuration
MONDO:0019732	ALys amyloidosis	oboInOwl:hasDbXref	Orphanet:93561	ALys amyloidosis	semapv:ManualMappingCuration
MONDO:0019733	AFib amyloidosis	oboInOwl:hasDbXref	Orphanet:93562	AFib amyloidosis	semapv:ManualMappingCuration
MONDO:0019734	juvenile polymyositis	oboInOwl:hasDbXref	Orphanet:93568	Juvenile polymyositis	semapv:ManualMappingCuration
MONDO:0019735	polymyalgia rheumatica	oboInOwl:hasDbXref	Orphanet:93569	NON RARE IN EUROPE: Polymyalgia rheumatica	semapv:ManualMappingCuration
MONDO:0019736	dense deposit disease	oboInOwl:hasDbXref	Orphanet:93571	Dense deposit disease	semapv:ManualMappingCuration
MONDO:0019737	thrombotic microangiopathy	oboInOwl:hasDbXref	Orphanet:93573	Thrombotic microangiopathy	semapv:ManualMappingCuration
MONDO:0019738	atypical hemolytic-uremic syndrome with H factor anomaly	oboInOwl:hasDbXref	Orphanet:93579	OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly	semapv:ManualMappingCuration
MONDO:0019739	atypical hemolytic-uremic syndrome with anti-factor H antibodies	oboInOwl:hasDbXref	Orphanet:93581	Atypical hemolytic uremic syndrome with anti-factor H antibodies	semapv:ManualMappingCuration
MONDO:0019740	acquired thrombotic thrombocytopenic purpura	oboInOwl:hasDbXref	Orphanet:93585	Immune-mediated thrombotic thrombocytopenic purpura	semapv:ManualMappingCuration
MONDO:0019741	familial cystic renal disease	oboInOwl:hasDbXref	Orphanet:93587	Genetic cystic renal disease	semapv:ManualMappingCuration
MONDO:0019742	late-onset nephronophthisis	oboInOwl:hasDbXref	Orphanet:93589	Late-onset nephronophthisis	semapv:ManualMappingCuration
MONDO:0019743	obsolete nephropathy secondary to a storage or other metabolic disease	oboInOwl:hasDbXref	Orphanet:93593	Nephropathy secondary to a storage or other metabolic disease	semapv:ManualMappingCuration
MONDO:0019744	obsolete rare renal tubular disease	oboInOwl:hasDbXref	Orphanet:93603	Rare renal tubular disease	semapv:ManualMappingCuration
MONDO:0019745	cystinuria type A	oboInOwl:hasDbXref	Orphanet:93612	Cystinuria type A	semapv:ManualMappingCuration
MONDO:0019746	cystinuria type B	oboInOwl:hasDbXref	Orphanet:93613	Cystinuria type B	semapv:ManualMappingCuration
MONDO:0019747	obsolete hematological disorder with renal involvement	oboInOwl:hasDbXref	Orphanet:93614	Hematological disorder with renal involvement	semapv:ManualMappingCuration
MONDO:0019748	obsolete rare cause of hypertension	oboInOwl:hasDbXref	Orphanet:93618	Rare cause of hypertension	semapv:ManualMappingCuration
MONDO:0019749	obsolete rare renal tumor	oboInOwl:hasDbXref	Orphanet:93619	Rare renal tumor	semapv:ManualMappingCuration
MONDO:0019750	obsolete rare renal disease	oboInOwl:hasDbXref	Orphanet:93626	Rare renal disease	semapv:ManualMappingCuration
MONDO:0019751	autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:93665	Autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0019752	pediatric Castleman disease	oboInOwl:hasDbXref	Orphanet:93682	OBSOLETE: Pediatric Castleman disease	semapv:ManualMappingCuration
MONDO:0019753	localized Castleman disease	oboInOwl:hasDbXref	Orphanet:93685	Unicentric Castleman disease	semapv:ManualMappingCuration
MONDO:0019754	multicentric Castleman disease	oboInOwl:hasDbXref	Orphanet:570438	HHV-8-associated multicentric Castleman disease	semapv:ManualMappingCuration
MONDO:0019754	multicentric Castleman disease	oboInOwl:hasDbXref	Orphanet:93686	OBSOLETE: Multicentric Castleman disease	semapv:ManualMappingCuration
MONDO:0019755	developmental defect during embryogenesis	oboInOwl:hasDbXref	Orphanet:93890	Rare developmental defect during embryogenesis	semapv:ManualMappingCuration
MONDO:0019756	lobar holoprosencephaly	oboInOwl:hasDbXref	Orphanet:93924	Lobar holoprosencephaly	semapv:ManualMappingCuration
MONDO:0019757	alobar holoprosencephaly	oboInOwl:hasDbXref	Orphanet:93925	Alobar holoprosencephaly	semapv:ManualMappingCuration
MONDO:0019758	obsolete midline interhemispheric variant of holoprosencephaly	oboInOwl:hasDbXref	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly	semapv:ManualMappingCuration
MONDO:0019759	epispadias	oboInOwl:hasDbXref	Orphanet:93928	Isolated epispadias	semapv:ManualMappingCuration
MONDO:0019760	terminal transverse defects of arm	oboInOwl:hasDbXref	Orphanet:93937	OBSOLETE: Terminal transverse defects of arm	semapv:ManualMappingCuration
MONDO:0019761	laryngotracheoesophageal cleft type 1	oboInOwl:hasDbXref	Orphanet:93938	Laryngotracheoesophageal cleft type 1	semapv:ManualMappingCuration
MONDO:0019762	laryngotracheoesophageal cleft type 2	oboInOwl:hasDbXref	Orphanet:93939	Laryngotracheoesophageal cleft type 2	semapv:ManualMappingCuration
MONDO:0019763	laryngotracheoesophageal cleft type 3	oboInOwl:hasDbXref	Orphanet:93940	Laryngotracheoesophageal cleft type 3	semapv:ManualMappingCuration
MONDO:0019764	laryngotracheoesophageal cleft type 4	oboInOwl:hasDbXref	Orphanet:93941	Laryngotracheoesophageal cleft type 4	semapv:ManualMappingCuration
MONDO:0019765	obsolete celosomia	oboInOwl:hasDbXref	Orphanet:93942	OBSOLETE: Superior celosomia	semapv:ManualMappingCuration
MONDO:0019766	X-linked intellectual disability, Porteous type	oboInOwl:hasDbXref	Orphanet:93945	X-linked intellectual disability, Porteous type	semapv:ManualMappingCuration
MONDO:0019767	hamel cerebro-palato-cardiac syndrome	oboInOwl:hasDbXref	Orphanet:93946	Hamel cerebro-palato-cardiac syndrome	semapv:ManualMappingCuration
MONDO:0019768	X-linked intellectual disability, Golabi-Ito-hall type	oboInOwl:hasDbXref	Orphanet:93947	X-linked intellectual disability, Golabi-Ito-Hall type	semapv:ManualMappingCuration
MONDO:0019769	X-linked intellectual disability, Sutherland-Haan type	oboInOwl:hasDbXref	Orphanet:93950	X-linked intellectual disability, Sutherland-Haan type	semapv:ManualMappingCuration
MONDO:0019770	X-linked dominant intellectual disability-epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:93951	OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0019771	oromandibular dystonia	oboInOwl:hasDbXref	Orphanet:93958	Oromandibular dystonia	semapv:ManualMappingCuration
MONDO:0019772	blepharospasm-oromandibular dystonia syndrome	oboInOwl:hasDbXref	Orphanet:93964	Blepharospasm-oromandibular dystonia syndrome	semapv:ManualMappingCuration
MONDO:0019773	myelomeningocele	oboInOwl:hasDbXref	Orphanet:93969	Open spinal dysraphism with a myelomeningocele	semapv:ManualMappingCuration
MONDO:0019779	obsolete Renier-Gabreels-Jasper syndrome	oboInOwl:hasDbXref	Orphanet:93975	OBSOLETE: Renier-Gabreels-Jasper syndrome	semapv:ManualMappingCuration
MONDO:0019780	anotia	oboInOwl:hasDbXref	Orphanet:93976	Anotia	semapv:ManualMappingCuration
MONDO:0019782	humero-ulnar synostosis	oboInOwl:hasDbXref	Orphanet:94056	Isolated humero-ulnar synostosis	semapv:ManualMappingCuration
MONDO:0019783	neovascular glaucoma	oboInOwl:hasDbXref	Orphanet:94058	Neovascular glaucoma	semapv:ManualMappingCuration
MONDO:0019784	12q14 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:94063	12q14 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0019786	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	oboInOwl:hasDbXref	Orphanet:94066	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	semapv:ManualMappingCuration
MONDO:0019787	autoimmune enteropathy	oboInOwl:hasDbXref	Orphanet:94075	Severe immune-mediated enteropathy	semapv:ManualMappingCuration
MONDO:0019788	non-secreting paraganglioma	oboInOwl:hasDbXref	Orphanet:94080	Non-functioning paraganglioma	semapv:ManualMappingCuration
MONDO:0019789	cytophagic histiocytic panniculitis	oboInOwl:hasDbXref	Orphanet:94087	Cytophagic histiocytic panniculitis	semapv:ManualMappingCuration
MONDO:0019790	neuroleptic malignant syndrome	oboInOwl:hasDbXref	Orphanet:94093	Neuroleptic malignant syndrome	semapv:ManualMappingCuration
MONDO:0019791	recessive mitochondrial ataxia syndrome	oboInOwl:hasDbXref	Orphanet:94125	Recessive mitochondrial ataxia syndrome	semapv:ManualMappingCuration
MONDO:0019792	autosomal dominant cerebellar ataxia type I	oboInOwl:hasDbXref	Orphanet:94145	Autosomal dominant cerebellar ataxia type I	semapv:ManualMappingCuration
MONDO:0019793	autosomal dominant cerebellar ataxia type III	oboInOwl:hasDbXref	Orphanet:94148	Autosomal dominant cerebellar ataxia type III	semapv:ManualMappingCuration
MONDO:0019794	autosomal dominant cerebellar ataxia type IV	oboInOwl:hasDbXref	Orphanet:94149	Autosomal dominant cerebellar ataxia type IV	semapv:ManualMappingCuration
MONDO:0019795	acalvaria	oboInOwl:hasDbXref	Orphanet:945	Acalvaria	semapv:ManualMappingCuration
MONDO:0019796	acrocephalosyndactyly	oboInOwl:hasDbXref	Orphanet:946	OBSOLETE: Acrocephalosyndactyly	semapv:ManualMappingCuration
MONDO:0019797	acrodysostosis	oboInOwl:hasDbXref	Orphanet:950	Acrodysostosis	semapv:ManualMappingCuration
MONDO:0019799	hepatoerythropoietic porphyria	oboInOwl:hasDbXref	Orphanet:95159	Hepatoerythropoietic porphyria	semapv:ManualMappingCuration
MONDO:0019800	obsolete chronic hepatic porphyria	oboInOwl:hasDbXref	Orphanet:95161	OBSOLETE: Chronic hepatic porphyria	semapv:ManualMappingCuration
MONDO:0019801	acute adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:95409	Acute adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0019802	secondary short bowel syndrome	oboInOwl:hasDbXref	Orphanet:95427	Secondary short bowel syndrome	semapv:ManualMappingCuration
MONDO:0019803	angioma serpiginosum	oboInOwl:hasDbXref	Orphanet:95429	Angioma serpiginosum	semapv:ManualMappingCuration
MONDO:0019804	congenital tracheomalacia	oboInOwl:hasDbXref	Orphanet:95430	Congenital tracheomalacia	semapv:ManualMappingCuration
MONDO:0019805	twin to twin transfusion syndrome	oboInOwl:hasDbXref	Orphanet:95431	Twin to twin transfusion syndrome	semapv:ManualMappingCuration
MONDO:0019806	primary progressive aphasia	oboInOwl:hasDbXref	Orphanet:95432	Primary progressive aphasia	semapv:ManualMappingCuration
MONDO:0019807	mesocardia	oboInOwl:hasDbXref	Orphanet:95443	Mesocardia	semapv:ManualMappingCuration
MONDO:0019808	aortic valve atresia	oboInOwl:hasDbXref	Orphanet:95448	Congenital aortic valve atresia	semapv:ManualMappingCuration
MONDO:0019809	congenital aortic valve insufficiency	oboInOwl:hasDbXref	Orphanet:95449	OBSOLETE: Congenital aortic valve insufficiency	semapv:ManualMappingCuration
MONDO:0019810	toxic epidermal necrolysis	oboInOwl:hasDbXref	Orphanet:95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	semapv:ManualMappingCuration
MONDO:0019811	tricuspid valve agenesis	oboInOwl:hasDbXref	Orphanet:95457	Tricuspid valve agenesis	semapv:ManualMappingCuration
MONDO:0019813	congenital tricuspid stenosis	oboInOwl:hasDbXref	Orphanet:95459	Congenital tricuspid stenosis	semapv:ManualMappingCuration
MONDO:0019814	straddling or overriding tricuspid valve	oboInOwl:hasDbXref	Orphanet:95461	Straddling or overriding tricuspid valve	semapv:ManualMappingCuration
MONDO:0019815	accessory tricuspid valve tissue	oboInOwl:hasDbXref	Orphanet:95462	Accessory tricuspid valve tissue	semapv:ManualMappingCuration
MONDO:0019816	obsolete anomaly of the tricuspid subvalvular apparatus	oboInOwl:hasDbXref	Orphanet:95463	Anomaly of the tricuspid subvalvular apparatus	semapv:ManualMappingCuration
MONDO:0019817	congenital mitral valve insufficiency and/or stenosis	oboInOwl:hasDbXref	Orphanet:95464	Congenital mitral valve insufficiency and/or stenosis	semapv:ManualMappingCuration
MONDO:0019818	cleft mitral valve	oboInOwl:hasDbXref	Orphanet:95465	Cleft mitral valve	semapv:ManualMappingCuration
MONDO:0019819	double-orifice mitral valve	oboInOwl:hasDbXref	Orphanet:95474	Double-orifice mitral valve	semapv:ManualMappingCuration
MONDO:0019820	univentricular cardiopathy	oboInOwl:hasDbXref	Orphanet:95483	Univentricular cardiopathy	semapv:ManualMappingCuration
MONDO:0019821	aneurysm or dilatation of ascending aorta	oboInOwl:hasDbXref	Orphanet:95484	OBSOLETE: Aneurysm or dilatation of ascending aorta	semapv:ManualMappingCuration
MONDO:0019822	obsolete arterial duct anomaly	oboInOwl:hasDbXref	Orphanet:95485	Arterial duct anomaly	semapv:ManualMappingCuration
MONDO:0019823	premature closure of the arterial duct	oboInOwl:hasDbXref	Orphanet:95486	Premature closure of the arterial duct	semapv:ManualMappingCuration
MONDO:0019824	non-acquired pituitary hormone deficiency	oboInOwl:hasDbXref	Orphanet:95488	Non-acquired pituitary hormone deficiency	semapv:ManualMappingCuration
MONDO:0019825	congenital coronary artery aneurysm	oboInOwl:hasDbXref	Orphanet:95491	Congenital coronary artery aneurysm	semapv:ManualMappingCuration
MONDO:0019826	obsolete abnormal origin or aberrant course of coronary artery	oboInOwl:hasDbXref	Orphanet:95493	OBSOLETE: Abnormal origin or aberrant course of coronary artery	semapv:ManualMappingCuration
MONDO:0019827	obsolete disease associated with non-acquired combined pituitary hormone deficiency	oboInOwl:hasDbXref	Orphanet:95495	Disease associated with non-acquired combined pituitary hormone deficiency	semapv:ManualMappingCuration
MONDO:0019828	pituitary stalk interruption syndrome	oboInOwl:hasDbXref	Orphanet:95496	Pituitary stalk interruption syndrome	semapv:ManualMappingCuration
MONDO:0019829	congenital anomaly of superior vena cava	oboInOwl:hasDbXref	Orphanet:95498	Congenital anomaly of superior vena cava	semapv:ManualMappingCuration
MONDO:0019830	congenital anomaly of the inferior vena cava	oboInOwl:hasDbXref	Orphanet:95499	Congenital anomaly of the inferior vena cava	semapv:ManualMappingCuration
MONDO:0019831	obsolete congenital anomaly of the coronary sinus	oboInOwl:hasDbXref	Orphanet:95500	Congenital anomaly of the coronary sinus	semapv:ManualMappingCuration
MONDO:0019832	acquired pituitary hormone deficiency	oboInOwl:hasDbXref	Orphanet:95502	Acquired pituitary hormone deficiency	semapv:ManualMappingCuration
MONDO:0019833	obsolete pituitary hormone deficiency from tumoral origin	oboInOwl:hasDbXref	Orphanet:95503	Pituitary hormone deficiency of tumoral origin	semapv:ManualMappingCuration
MONDO:0019834	obsolete pituitary hormone deficiency from meningeal origin	oboInOwl:hasDbXref	Orphanet:95505	Pituitary hormone deficiency of meningeal origin	semapv:ManualMappingCuration
MONDO:0019835	primary hypophysitis	oboInOwl:hasDbXref	Orphanet:95506	Primary hypophysitis	semapv:ManualMappingCuration
MONDO:0019836	congenital anomaly of hepatic vein	oboInOwl:hasDbXref	Orphanet:95507	Congenital anomaly of hepatic vein	semapv:ManualMappingCuration
MONDO:0019837	obsolete atrial appendage anomaly	oboInOwl:hasDbXref	Orphanet:95510	Atrial appendage anomaly	semapv:ManualMappingCuration
MONDO:0019838	adenohypophysitis	oboInOwl:hasDbXref	Orphanet:95512	Adenohypophysitis	semapv:ManualMappingCuration
MONDO:0019839	panhypophysitis	oboInOwl:hasDbXref	Orphanet:95513	Panhypophysitis	semapv:ManualMappingCuration
MONDO:0019840	acropectororenal dysplasia	oboInOwl:hasDbXref	Orphanet:956	Acropectororenal dysplasia	semapv:ManualMappingCuration
MONDO:0019841	obsolete pituitary hormone defiency from vascular origin	oboInOwl:hasDbXref	Orphanet:95611	Pituitary hormone deficiency of vascular origin	semapv:ManualMappingCuration
MONDO:0019843	obsolete pituitary hormone deficiency secondary to a granulomatous disease	oboInOwl:hasDbXref	Orphanet:95617	Pituitary hormone deficiency secondary to a granulomatous disease	semapv:ManualMappingCuration
MONDO:0019844	obsolete pituitary hormone deficiency secondary to storage disease	oboInOwl:hasDbXref	Orphanet:95618	Pituitary hormone deficiency secondary to storage disease	semapv:ManualMappingCuration
MONDO:0019845	iatrogenic or traumatic pituitary deficiency	oboInOwl:hasDbXref	Orphanet:95619	Post-traumatic pituitary deficiency	semapv:ManualMappingCuration
MONDO:0019846	acquired central diabetes insipidus	oboInOwl:hasDbXref	Orphanet:95626	Acquired arginine vasopressin deficiency	semapv:ManualMappingCuration
MONDO:0019847	obsolete congenital adrenal hypoplasia of maternal cause	oboInOwl:hasDbXref	Orphanet:95701	OBSOLETE: Congenital adrenal hypoplasia of maternal cause	semapv:ManualMappingCuration
MONDO:0019848	posterior hypospadias	oboInOwl:hasDbXref	Orphanet:95706	Non-syndromic posterior hypospadias	semapv:ManualMappingCuration
MONDO:0019849	isolated micropenis	oboInOwl:hasDbXref	Orphanet:95707	Idiopathic isolated micropenis	semapv:ManualMappingCuration
MONDO:0019851	acquired primary ovarian failure	oboInOwl:hasDbXref	Orphanet:95709	Rare acquired premature ovarian failure	semapv:ManualMappingCuration
MONDO:0019852	inherited primary ovarian failure	oboInOwl:hasDbXref	Orphanet:95710	Rare non-acquired premature ovarian failure	semapv:ManualMappingCuration
MONDO:0019853	obsolete congenital hypothyroidism due to developmental anomaly	oboInOwl:hasDbXref	Orphanet:95711	Congenital hypothyroidism due to developmental anomaly	semapv:ManualMappingCuration
MONDO:0019854	thyroid ectopia	oboInOwl:hasDbXref	Orphanet:95712	Thyroid ectopia	semapv:ManualMappingCuration
MONDO:0019855	athyreosis	oboInOwl:hasDbXref	Orphanet:95713	Athyreosis	semapv:ManualMappingCuration
MONDO:0019856	obsolete primary congenital hypothyroidism without thyroid developmental anomaly	oboInOwl:hasDbXref	Orphanet:95714	Primary congenital hypothyroidism without thyroid developmental anomaly	semapv:ManualMappingCuration
MONDO:0019857	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies	oboInOwl:hasDbXref	Orphanet:95715	Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies	semapv:ManualMappingCuration
MONDO:0019858	idiopathic congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:95717	Idiopathic congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0019859	obsolete congenital thyroid malformation without hypothyroidism	oboInOwl:hasDbXref	Orphanet:95718	Congenital thyroid malformation without hypothyroidism	semapv:ManualMappingCuration
MONDO:0019860	thyroid hemiagenesis	oboInOwl:hasDbXref	Orphanet:95719	Thyroid hemiagenesis	semapv:ManualMappingCuration
MONDO:0019861	thyroid hypoplasia	oboInOwl:hasDbXref	Orphanet:95720	Thyroid hypoplasia	semapv:ManualMappingCuration
MONDO:0019862	levocardia	oboInOwl:hasDbXref	Orphanet:95854	Levocardia	semapv:ManualMappingCuration
MONDO:0019864	tetrasomy 21	oboInOwl:hasDbXref	Orphanet:96055	Tetrasomy 21 syndrome	semapv:ManualMappingCuration
MONDO:0019865	mosaic trisomy 4	oboInOwl:hasDbXref	Orphanet:96059	Mosaic trisomy 4 syndrome	semapv:ManualMappingCuration
MONDO:0019866	mosaic trisomy 5	oboInOwl:hasDbXref	Orphanet:96060	Mosaic trisomy 5 syndrome	semapv:ManualMappingCuration
MONDO:0019867	mosaic trisomy 8	oboInOwl:hasDbXref	Orphanet:96061	Mosaic trisomy 8 syndrome	semapv:ManualMappingCuration
MONDO:0019868	mosaic trisomy 10	oboInOwl:hasDbXref	Orphanet:96063	Mosaic trisomy 10 syndrome	semapv:ManualMappingCuration
MONDO:0019869	mosaic trisomy 22	oboInOwl:hasDbXref	Orphanet:96068	Mosaic trisomy 22 syndrome	semapv:ManualMappingCuration
MONDO:0019870	distal trisomy 1p36	oboInOwl:hasDbXref	Orphanet:96069	Distal duplication 1p36 syndrome	semapv:ManualMappingCuration
MONDO:0019871	distal trisomy 2p	oboInOwl:hasDbXref	Orphanet:96070	Distal duplication 2p syndrome	semapv:ManualMappingCuration
MONDO:0019872	distal trisomy 3p	oboInOwl:hasDbXref	Orphanet:96071	Distal duplication 3p syndrome	semapv:ManualMappingCuration
MONDO:0019873	4p16.3 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:96072	4p16.3 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0019874	distal trisomy 7p	oboInOwl:hasDbXref	Orphanet:96074	Distal duplication 7p syndrome	semapv:ManualMappingCuration
MONDO:0019875	Beckwith-Wiedemann syndrome due to 11p15 microduplication	oboInOwl:hasDbXref	Orphanet:96076	Beckwith-Wiedemann syndrome due to 11p15 microduplication	semapv:ManualMappingCuration
MONDO:0019876	8p inverted duplication/deletion syndrome	oboInOwl:hasDbXref	Orphanet:96092	8p inverted duplication/deletion syndrome	semapv:ManualMappingCuration
MONDO:0019877	distal trisomy 2q	oboInOwl:hasDbXref	Orphanet:96094	Distal duplication 2q syndrome	semapv:ManualMappingCuration
MONDO:0019878	3q26 microduplication syndrome	oboInOwl:hasDbXref	Orphanet:96095	3q26 microduplication syndrome	semapv:ManualMappingCuration
MONDO:0019879	distal trisomy 4q	oboInOwl:hasDbXref	Orphanet:96096	Distal duplication 4q syndrome	semapv:ManualMappingCuration
MONDO:0019880	distal trisomy 5q	oboInOwl:hasDbXref	Orphanet:96097	Distal duplication 5q syndrome	semapv:ManualMappingCuration
MONDO:0019881	distal trisomy 6q	oboInOwl:hasDbXref	Orphanet:96098	Distal duplication 6q syndrome	semapv:ManualMappingCuration
MONDO:0019882	distal trisomy 8q	oboInOwl:hasDbXref	Orphanet:96100	Distal duplication 8q syndrome	semapv:ManualMappingCuration
MONDO:0019883	distal trisomy 9q	oboInOwl:hasDbXref	Orphanet:96101	Distal duplication 9q syndrome	semapv:ManualMappingCuration
MONDO:0019884	distal trisomy 10q	oboInOwl:hasDbXref	Orphanet:96102	Distal duplication 10q syndrome	semapv:ManualMappingCuration
MONDO:0019885	distal trisomy 11q	oboInOwl:hasDbXref	Orphanet:96103	Distal duplication 11q syndrome	semapv:ManualMappingCuration
MONDO:0019886	distal trisomy 13q	oboInOwl:hasDbXref	Orphanet:96105	Distal duplication 13q syndrome	semapv:ManualMappingCuration
MONDO:0019887	distal trisomy 16q	oboInOwl:hasDbXref	Orphanet:96106	Distal duplication 16q syndrome	semapv:ManualMappingCuration
MONDO:0019888	distal trisomy 20q	oboInOwl:hasDbXref	Orphanet:96107	Distal duplication 20q syndrome	semapv:ManualMappingCuration
MONDO:0019889	distal trisomy 22q	oboInOwl:hasDbXref	Orphanet:96109	Distal duplication 22q syndrome	semapv:ManualMappingCuration
MONDO:0019890	non-distal trisomy 9q	oboInOwl:hasDbXref	Orphanet:96112	Non-distal duplication 9q syndrome	semapv:ManualMappingCuration
MONDO:0019891	monosomy 22	oboInOwl:hasDbXref	Orphanet:96123	Monosomy 22 syndrome	semapv:ManualMappingCuration
MONDO:0019892	distal monosomy 7p	oboInOwl:hasDbXref	Orphanet:96126	Distal deletion 7p syndrome	semapv:ManualMappingCuration
MONDO:0019893	distal monosomy 19p13.3	oboInOwl:hasDbXref	Orphanet:96129	Distal deletion 19p syndrome	semapv:ManualMappingCuration
MONDO:0019894	obsolete non-distal monosomy 7p	oboInOwl:hasDbXref	Orphanet:96136	OBSOLETE: Non-distal monosomy 7p	semapv:ManualMappingCuration
MONDO:0019895	distal monosomy 4q	oboInOwl:hasDbXref	Orphanet:96145	Distal deletion 4q syndrome	semapv:ManualMappingCuration
MONDO:0019896	Kleefstra syndrome due to 9q34 microdeletion	oboInOwl:hasDbXref	Orphanet:96147	Kleefstra syndrome due to 9q34 microdeletion	semapv:ManualMappingCuration
MONDO:0019897	distal monosomy 12q	oboInOwl:hasDbXref	Orphanet:96149	Distal deletion 12q syndrome	semapv:ManualMappingCuration
MONDO:0019898	distal monosomy 14q	oboInOwl:hasDbXref	Orphanet:96150	Distal deletion 14q syndrome	semapv:ManualMappingCuration
MONDO:0019899	obsolete distal monosomy 20q	oboInOwl:hasDbXref	Orphanet:96152	OBSOLETE: Distal monosomy 20q	semapv:ManualMappingCuration
MONDO:0019900	non-distal monosomy 12q	oboInOwl:hasDbXref	Orphanet:96160	Non-distal deletion 12q syndrome	semapv:ManualMappingCuration
MONDO:0019901	non-distal monosomy 20q	oboInOwl:hasDbXref	Orphanet:96164	OBSOLETE: Non-distal monosomy 20q	semapv:ManualMappingCuration
MONDO:0019902	monosomy 13q34	oboInOwl:hasDbXref	Orphanet:96168	Monosomy 13q34 syndrome	semapv:ManualMappingCuration
MONDO:0019903	ring chromosome 2	oboInOwl:hasDbXref	Orphanet:96171	Ring chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0019904	ring chromosome 3	oboInOwl:hasDbXref	Orphanet:96172	Ring chromosome 3 syndrome	semapv:ManualMappingCuration
MONDO:0019905	ring chromosome 9	oboInOwl:hasDbXref	Orphanet:96173	Ring chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0019906	ring chromosome 11	oboInOwl:hasDbXref	Orphanet:96175	Ring chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0019907	ring chromosome 13	oboInOwl:hasDbXref	Orphanet:96176	Ring chromosome 13 syndrome	semapv:ManualMappingCuration
MONDO:0019908	ring chromosome 15	oboInOwl:hasDbXref	Orphanet:96177	Ring chromosome 15 syndrome	semapv:ManualMappingCuration
MONDO:0019909	ring chromosome 16	oboInOwl:hasDbXref	Orphanet:96178	Ring chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0019910	maternal uniparental disomy of chromosome 2	oboInOwl:hasDbXref	Orphanet:96179	Maternal uniparental disomy of chromosome 2 syndrome	semapv:ManualMappingCuration
MONDO:0019911	maternal uniparental disomy of chromosome 4	oboInOwl:hasDbXref	Orphanet:96180	Maternal uniparental disomy of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0019912	maternal uniparental disomy of chromosome 6	oboInOwl:hasDbXref	Orphanet:96181	Maternal uniparental disomy of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0019913	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	oboInOwl:hasDbXref	Orphanet:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	semapv:ManualMappingCuration
MONDO:0019914	maternal uniparental disomy of chromosome 9	oboInOwl:hasDbXref	Orphanet:96183	Maternal uniparental disomy of chromosome 9 syndrome	semapv:ManualMappingCuration
MONDO:0019915	maternal uniparental disomy of chromosome 14	oboInOwl:hasDbXref	Orphanet:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	semapv:ManualMappingCuration
MONDO:0019916	maternal uniparental disomy of chromosome 16	oboInOwl:hasDbXref	Orphanet:96185	Maternal uniparental disomy of chromosome 16 syndrome	semapv:ManualMappingCuration
MONDO:0019917	maternal uniparental disomy of chromosome 20	oboInOwl:hasDbXref	Orphanet:96186	Maternal uniparental disomy of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0019918	maternal uniparental disomy of chromosome 21	oboInOwl:hasDbXref	Orphanet:96187	Maternal uniparental disomy of chromosome 21 syndrome	semapv:ManualMappingCuration
MONDO:0019919	maternal uniparental disomy of chromosome 22	oboInOwl:hasDbXref	Orphanet:96188	Maternal uniparental disomy of chromosome 22 syndrome	semapv:ManualMappingCuration
MONDO:0019920	paternal uniparental disomy of chromosome 5	oboInOwl:hasDbXref	Orphanet:96190	Paternal uniparental disomy of chromosome 5 syndrome	semapv:ManualMappingCuration
MONDO:0019921	paternal uniparental disomy of chromosome 6	oboInOwl:hasDbXref	Orphanet:96191	Paternal uniparental disomy of chromosome 6 syndrome	semapv:ManualMappingCuration
MONDO:0019922	paternal uniparental disomy of chromosome 7	oboInOwl:hasDbXref	Orphanet:96192	Paternal uniparental disomy of chromosome 7 syndrome	semapv:ManualMappingCuration
MONDO:0019923	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	oboInOwl:hasDbXref	Orphanet:96193	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	semapv:ManualMappingCuration
MONDO:0019924	paternal uniparental disomy of chromosome 20	oboInOwl:hasDbXref	Orphanet:96194	Paternal uniparental disomy of chromosome 20 syndrome	semapv:ManualMappingCuration
MONDO:0019925	paternal uniparental disomy of chromosome 21	oboInOwl:hasDbXref	Orphanet:96195	Paternal uniparental disomy of chromosome 21 syndrome	semapv:ManualMappingCuration
MONDO:0019926	X small rings	oboInOwl:hasDbXref	Orphanet:96201	X small rings syndrome	semapv:ManualMappingCuration
MONDO:0019928	48,XXXY syndrome	oboInOwl:hasDbXref	Orphanet:96263	48,XXXY syndrome	semapv:ManualMappingCuration
MONDO:0019929	49,XXXXY syndrome	oboInOwl:hasDbXref	Orphanet:96264	49,XXXXY syndrome	semapv:ManualMappingCuration
MONDO:0019930	Leydig cell hypoplasia due to complete LH resistance	oboInOwl:hasDbXref	Orphanet:96265	Leydig cell hypoplasia due to complete LH resistance	semapv:ManualMappingCuration
MONDO:0019931	Leydig cell hypoplasia due to partial LH resistance	oboInOwl:hasDbXref	Orphanet:96266	Leydig cell hypoplasia due to partial LH resistance	semapv:ManualMappingCuration
MONDO:0019932	isolated partial vaginal agenesis	oboInOwl:hasDbXref	Orphanet:96269	Isolated partial vaginal agenesis	semapv:ManualMappingCuration
MONDO:0019933	acromegaly	oboInOwl:hasDbXref	Orphanet:963	Acromegaly	semapv:ManualMappingCuration
MONDO:0019934	polyploidy	oboInOwl:hasDbXref	Orphanet:96321	Polyploidy syndrome	semapv:ManualMappingCuration
MONDO:0019935	isochromosome Y	oboInOwl:hasDbXref	Orphanet:96325	Isochromosome Y syndrome	semapv:ManualMappingCuration
MONDO:0019936	obsolete rare otorhinolaryngological malformation	oboInOwl:hasDbXref	Orphanet:96333	Rare otorhinolaryngological malformation	semapv:ManualMappingCuration
MONDO:0019937	obsolete rare gynecologic or obstetric disease	oboInOwl:hasDbXref	Orphanet:96344	Rare gynecologic or obstetric disease	semapv:ManualMappingCuration
MONDO:0019938	anorectal malformation	oboInOwl:hasDbXref	Orphanet:96346	Anorectal malformation	semapv:ManualMappingCuration
MONDO:0019939	early-onset schizophrenia	oboInOwl:hasDbXref	Orphanet:96369	OBSOLETE: Early-onset schizophrenia	semapv:ManualMappingCuration
MONDO:0019940	hypertrichosis-acromegaloid facial appearance syndrome	oboInOwl:hasDbXref	Orphanet:966	Hypertrichosis-acromegaloid facial appearance syndrome	semapv:ManualMappingCuration
MONDO:0019941	hereditary sensory and autonomic neuropathy type 2	oboInOwl:hasDbXref	Orphanet:970	Hereditary sensory and autonomic neuropathy type 2	semapv:ManualMappingCuration
MONDO:0019942	distal arthrogryposis	oboInOwl:hasDbXref	Orphanet:97120	Distal arthrogryposis	semapv:ManualMappingCuration
MONDO:0019943	hereditary continuous muscle fiber activity	oboInOwl:hasDbXref	Orphanet:972	Hereditary continuous muscle fiber activity	semapv:ManualMappingCuration
MONDO:0019944	Eisenmenger syndrome	oboInOwl:hasDbXref	Orphanet:97214	Eisenmenger syndrome	semapv:ManualMappingCuration
MONDO:0019945	solar urticaria	oboInOwl:hasDbXref	Orphanet:97230	Solar urticaria	semapv:ManualMappingCuration
MONDO:0019947	rippling muscle disease 2	oboInOwl:hasDbXref	Orphanet:97238	Rippling muscle disease	semapv:ManualMappingCuration
MONDO:0019948	reducing body myopathy	oboInOwl:hasDbXref	Orphanet:97239	Reducing body myopathy	semapv:ManualMappingCuration
MONDO:0019949	zebra body myopathy	oboInOwl:hasDbXref	Orphanet:97240	Zebra body myopathy	semapv:ManualMappingCuration
MONDO:0019950	congenital muscular dystrophy	oboInOwl:hasDbXref	Orphanet:97242	Congenital muscular dystrophy	semapv:ManualMappingCuration
MONDO:0019951	rigid spine syndrome	oboInOwl:hasDbXref	Orphanet:97244	Rigid spine syndrome	semapv:ManualMappingCuration
MONDO:0019952	congenital myopathy	oboInOwl:hasDbXref	Orphanet:97245	Congenital myopathy	semapv:ManualMappingCuration
MONDO:0019953	mega-cisterna magna	oboInOwl:hasDbXref	Orphanet:97252	Mega-cisterna magna	semapv:ManualMappingCuration
MONDO:0019954	pancreatic neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:97253	Neuroendocrine tumor of pancreas	semapv:ManualMappingCuration
MONDO:0019955	GRFoma	oboInOwl:hasDbXref	Orphanet:97261	GRFoma	semapv:ManualMappingCuration
MONDO:0019956	encephalitis	oboInOwl:hasDbXref	Orphanet:97275	Encephalitis	semapv:ManualMappingCuration
MONDO:0019957	PPoma	oboInOwl:hasDbXref	Orphanet:97278	PPoma	semapv:ManualMappingCuration
MONDO:0019959	glucagonoma	oboInOwl:hasDbXref	Orphanet:97280	Glucagonoma	semapv:ManualMappingCuration
MONDO:0019960	VIPoma	oboInOwl:hasDbXref	Orphanet:97282	VIPoma	semapv:ManualMappingCuration
MONDO:0019962	thyroid lymphoma	oboInOwl:hasDbXref	Orphanet:97285	Thyroid lymphoma	semapv:ManualMappingCuration
MONDO:0019963	bronchial endocrine tumor	oboInOwl:hasDbXref	Orphanet:97287	Bronchial neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0019964	thymic neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:97289	Thymic neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0019965	obsolete rare benign ovarian tumor	oboInOwl:hasDbXref	Orphanet:97293	Rare benign ovarian tumor	semapv:ManualMappingCuration
MONDO:0019967	Kienbock disease	oboInOwl:hasDbXref	Orphanet:97332	Kienbock disease	semapv:ManualMappingCuration
MONDO:0019969	panner disease	oboInOwl:hasDbXref	Orphanet:97336	Panner disease	semapv:ManualMappingCuration
MONDO:0019970	Sinding-Larsen-Johansson disease	oboInOwl:hasDbXref	Orphanet:97337	Sinding-Larsen-Johansson disease	semapv:ManualMappingCuration
MONDO:0019971	melanoma of soft tissue	oboInOwl:hasDbXref	Orphanet:97338	Melanoma of soft tissue	semapv:ManualMappingCuration
MONDO:0019972	dural sinus malformation	oboInOwl:hasDbXref	Orphanet:97339	Dural sinus malformation	semapv:ManualMappingCuration
MONDO:0019973	persistent placoid maculopathy	oboInOwl:hasDbXref	Orphanet:97341	Persistent placoid maculopathy	semapv:ManualMappingCuration
MONDO:0019975	pellagra	oboInOwl:hasDbXref	Orphanet:97352	Pellagra	semapv:ManualMappingCuration
MONDO:0019976	dementia pugilistica	oboInOwl:hasDbXref	Orphanet:97353	Dementia pugilistica	semapv:ManualMappingCuration
MONDO:0019977	parkinsonism with dementia of Guadeloupe	oboInOwl:hasDbXref	Orphanet:97355	Caribbean parkinsonism	semapv:ManualMappingCuration
MONDO:0019978	Robinow syndrome	oboInOwl:hasDbXref	Orphanet:97360	Robinow syndrome	semapv:ManualMappingCuration
MONDO:0019979	renal hypoplasia, unilateral	oboInOwl:hasDbXref	Orphanet:97361	Renal hypoplasia, unilateral	semapv:ManualMappingCuration
MONDO:0019980	renal hypoplasia, bilateral	oboInOwl:hasDbXref	Orphanet:97362	Renal hypoplasia, bilateral	semapv:ManualMappingCuration
MONDO:0019981	unilateral multicystic dysplastic kidney	oboInOwl:hasDbXref	Orphanet:97363	Unilateral multicystic dysplastic kidney	semapv:ManualMappingCuration
MONDO:0019982	bilateral multicystic dysplastic kidney	oboInOwl:hasDbXref	Orphanet:97364	Bilateral multicystic dysplastic kidney	semapv:ManualMappingCuration
MONDO:0019983	multiloculated renal cyst	oboInOwl:hasDbXref	Orphanet:97366	Multiloculated renal cyst	semapv:ManualMappingCuration
MONDO:0019984	renal tubular dysgenesis due to twin-twin transfusion	oboInOwl:hasDbXref	Orphanet:97367	Renal tubular dysgenesis due to twin-twin transfusion	semapv:ManualMappingCuration
MONDO:0019985	drug-related renal tubular dysgenesis	oboInOwl:hasDbXref	Orphanet:97368	Drug-related renal tubular dysgenesis	semapv:ManualMappingCuration
MONDO:0019986	sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy	oboInOwl:hasDbXref	Orphanet:97555	OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy	semapv:ManualMappingCuration
MONDO:0019987	obsolete congenital and infantile nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:97556	Congenital and infantile nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0019988	pauci-immune glomerulonephritis with ANCA	oboInOwl:hasDbXref	Orphanet:97563	Pauci-immune glomerulonephritis with ANCA	semapv:ManualMappingCuration
MONDO:0019989	pauci-immune glomerulonephritis without ANCA	oboInOwl:hasDbXref	Orphanet:97564	Pauci-immune glomerulonephritis without ANCA	semapv:ManualMappingCuration
MONDO:0019990	non-amyloid fibrillary glomerulopathy	oboInOwl:hasDbXref	Orphanet:97566	Non-amyloid fibrillary glomerulopathy	semapv:ManualMappingCuration
MONDO:0019991	immunotactoid glomerulopathy	oboInOwl:hasDbXref	Orphanet:97567	Immunotactoid glomerulopathy	semapv:ManualMappingCuration
MONDO:0019992	pseudohypoparathyroidism	oboInOwl:hasDbXref	Orphanet:97593	Pseudohypoparathyroidism	semapv:ManualMappingCuration
MONDO:0019993	congenital renal artery stenosis	oboInOwl:hasDbXref	Orphanet:97598	Congenital renal artery stenosis	semapv:ManualMappingCuration
MONDO:0019994	maternal uniparental disomy of chromosome 13	oboInOwl:hasDbXref	Orphanet:97678	Maternal uniparental disomy of chromosome 13 syndrome	semapv:ManualMappingCuration
MONDO:0019995	peripheral resistance to thyroid hormones	oboInOwl:hasDbXref	Orphanet:97927	OBSOLETE: Peripheral resistance to thyroid hormones	semapv:ManualMappingCuration
MONDO:0019996	obsolete rare cardiac disease	oboInOwl:hasDbXref	Orphanet:97929	Rare cardiac disease	semapv:ManualMappingCuration
MONDO:0019997	obsolete rare gastroenterologic disease	oboInOwl:hasDbXref	Orphanet:97935	Rare gastroenterologic disease	semapv:ManualMappingCuration
MONDO:0019998	obsolete gastroduodenal malformation	oboInOwl:hasDbXref	Orphanet:97944	Gastroduodenal malformation	semapv:ManualMappingCuration
MONDO:0019999	obsolete intestinal malformation	oboInOwl:hasDbXref	Orphanet:97945	Intestinal malformation	semapv:ManualMappingCuration
MONDO:0020000	obsolete rare respiratory disease	oboInOwl:hasDbXref	Orphanet:97955	Rare respiratory disease	semapv:ManualMappingCuration
MONDO:0020001	respiratory or thoracic malformation	oboInOwl:hasDbXref	Orphanet:97957	Respiratory or thoracic malformation	semapv:ManualMappingCuration
MONDO:0020002	obsolete rare surgical thoracic disease	oboInOwl:hasDbXref	Orphanet:97962	Rare surgical thoracic disease	semapv:ManualMappingCuration
MONDO:0020003	obsolete rare surgical cardiac disease	oboInOwl:hasDbXref	Orphanet:97965	Rare surgical cardiac disease	semapv:ManualMappingCuration
MONDO:0020004	obsolete rare eye disease	oboInOwl:hasDbXref	Orphanet:97966	Rare ophthalmic disorder	semapv:ManualMappingCuration
MONDO:0020005	obsolete rare endocrine disease	oboInOwl:hasDbXref	Orphanet:97978	Rare endocrine disease	semapv:ManualMappingCuration
MONDO:0020007	absence of the pulmonary artery	oboInOwl:hasDbXref	Orphanet:980	Absence of the pulmonary artery	semapv:ManualMappingCuration
MONDO:0020008	obsolete rare immune disease	oboInOwl:hasDbXref	Orphanet:98004	Rare immune disease	semapv:ManualMappingCuration
MONDO:0020009	obsolete rare neurologic disease	oboInOwl:hasDbXref	Orphanet:98006	Rare neurologic disease	semapv:ManualMappingCuration
MONDO:0020010	infectious disorder of the nervous system	oboInOwl:hasDbXref	Orphanet:98010	Infectious disease of the nervous system	semapv:ManualMappingCuration
MONDO:0020011	obsolete rare headache disorder	oboInOwl:hasDbXref	Orphanet:98022	Rare headache	semapv:ManualMappingCuration
MONDO:0020013	obsolete rare odontologic disease	oboInOwl:hasDbXref	Orphanet:98026	Rare odontologic disease	semapv:ManualMappingCuration
MONDO:0020014	obsolete rare disease with odontological manifestation	oboInOwl:hasDbXref	Orphanet:98027	Rare disease with odontological manifestation	semapv:ManualMappingCuration
MONDO:0020015	obsolete rare circulatory system disease	oboInOwl:hasDbXref	Orphanet:98028	Rare circulatory system disease	semapv:ManualMappingCuration
MONDO:0020016	obsolete rare neurologic disease with psychiatric involvement	oboInOwl:hasDbXref	Orphanet:98033	Rare neurologic disease with psychiatric involvement	semapv:ManualMappingCuration
MONDO:0020017	obsolete rare otorhinolaryngologic disease	oboInOwl:hasDbXref	Orphanet:98036	Rare otorhinolaryngologic disease	semapv:ManualMappingCuration
MONDO:0020018	obsolete cranial malformation	oboInOwl:hasDbXref	Orphanet:98038	Cranial malformation	semapv:ManualMappingCuration
MONDO:0020019	obsolete digestive tract malformation	oboInOwl:hasDbXref	Orphanet:98039	Digestive tract malformation	semapv:ManualMappingCuration
MONDO:0020020	obsolete visceral malformation of the liver, biliary tract, pancreas or spleen	oboInOwl:hasDbXref	Orphanet:98041	Visceral malformation of the liver, biliary tract, pancreas or spleen	semapv:ManualMappingCuration
MONDO:0020021	obsolete diaphragmatic or abdominal wall malformation	oboInOwl:hasDbXref	Orphanet:98043	Diaphragmatic or abdominal wall malformation	semapv:ManualMappingCuration
MONDO:0020022	central nervous system malformation	oboInOwl:hasDbXref	Orphanet:98044	Central nervous system malformation	semapv:ManualMappingCuration
MONDO:0020023	obsolete respiratory or mediastinal malformation	oboInOwl:hasDbXref	Orphanet:98045	Respiratory or mediastinal malformation	semapv:ManualMappingCuration
MONDO:0020024	obsolete rare infertility	oboInOwl:hasDbXref	Orphanet:98047	Rare infertility	semapv:ManualMappingCuration
MONDO:0020025	obsolete rare male infertility	oboInOwl:hasDbXref	Orphanet:98048	Rare male infertility	semapv:ManualMappingCuration
MONDO:0020026	obsolete rare female infertility	oboInOwl:hasDbXref	Orphanet:98049	Rare female infertility	semapv:ManualMappingCuration
MONDO:0020027	obsolete rare allergic disease	oboInOwl:hasDbXref	Orphanet:98050	Rare allergic disease	semapv:ManualMappingCuration
MONDO:0020028	obsolete rare allergic respiratory disease	oboInOwl:hasDbXref	Orphanet:98052	Rare allergic respiratory disease	semapv:ManualMappingCuration
MONDO:0020029	obsolete rare genetic cardiac disease	oboInOwl:hasDbXref	Orphanet:98054	Rare genetic cardiac disease	semapv:ManualMappingCuration
MONDO:0020030	obsolete rare genetic renal disease	oboInOwl:hasDbXref	Orphanet:98056	Rare genetic renal disease	semapv:ManualMappingCuration
MONDO:0020031	obsolete rare tumor	oboInOwl:hasDbXref	Orphanet:98057	Rare tumor	semapv:ManualMappingCuration
MONDO:0020032	obsolete rare urinary tract tumor	oboInOwl:hasDbXref	Orphanet:98058	Rare urinary tract tumor	semapv:ManualMappingCuration
MONDO:0020033	obsolete rare digestive tumor	oboInOwl:hasDbXref	Orphanet:98059	Rare digestive tumor	semapv:ManualMappingCuration
MONDO:0020034	obsolete rare respiratory tract neoplasm	oboInOwl:hasDbXref	Orphanet:98060	Rare respiratory tumor	semapv:ManualMappingCuration
MONDO:0020035	obsolete rare otorhinolaryngologic tumor	oboInOwl:hasDbXref	Orphanet:98061	Rare otorhinolaryngologic tumor	semapv:ManualMappingCuration
MONDO:0020036	obsolete rare nervous system tumor	oboInOwl:hasDbXref	Orphanet:98062	Rare nervous system tumor	semapv:ManualMappingCuration
MONDO:0020037	obsolete rare gynecological tumor	oboInOwl:hasDbXref	Orphanet:98063	Rare gynecological tumor	semapv:ManualMappingCuration
MONDO:0020038	obsolete gonadal dysgenesis of gynecological interest	oboInOwl:hasDbXref	Orphanet:98074	Gonadal dysgenesis of gynecological interest	semapv:ManualMappingCuration
MONDO:0020039	obsolete 46,XX disorder of sex development induced by androgens excess	oboInOwl:hasDbXref	Orphanet:98078	46,XX difference of sex development induced by androgens excess	semapv:ManualMappingCuration
MONDO:0020040	46,XY disorder of sex development	oboInOwl:hasDbXref	Orphanet:98085	46,XY difference of sex development	semapv:ManualMappingCuration
MONDO:0020041	obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue	oboInOwl:hasDbXref	Orphanet:98086	46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue	semapv:ManualMappingCuration
MONDO:0020042	obsolete syndrome with 46,XY disorder of sex development	oboInOwl:hasDbXref	Orphanet:98087	Syndrome with 46,XY difference of sex development	semapv:ManualMappingCuration
MONDO:0020043	autosomal recessive congenital cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:98095	Autosomal recessive congenital cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0020044	autosomal recessive metabolic cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:98096	Autosomal recessive metabolic cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0020045	obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect	oboInOwl:hasDbXref	Orphanet:98097	Autosomal recessive cerebellar ataxia due to a DNA repair defect	semapv:ManualMappingCuration
MONDO:0020046	autosomal recessive degenerative and progressive cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:98098	Autosomal recessive degenerative and progressive cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0020047	autosomal recessive syndromic cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:98099	Autosomal recessive syndromic cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0020048	internal carotid agenesis	oboInOwl:hasDbXref	Orphanet:981	Internal carotid absence	semapv:ManualMappingCuration
MONDO:0020049	autosomal anomaly	oboInOwl:hasDbXref	Orphanet:98127	Autosomal anomaly syndrome	semapv:ManualMappingCuration
MONDO:0020050	obsolete autosomal trisomy	oboInOwl:hasDbXref	Orphanet:98130	Autosomal trisomy syndrome	semapv:ManualMappingCuration
MONDO:0020051	obsolete total autosomal trisomy	oboInOwl:hasDbXref	Orphanet:98131	Total autosomal trisomy syndrome	semapv:ManualMappingCuration
MONDO:0020052	obsolete partial autosomal trisomy/tetrasomy	oboInOwl:hasDbXref	Orphanet:98132	Partial autosomal duplication/triplication syndrome	semapv:ManualMappingCuration
MONDO:0020053	obsolete total autosomal monosomy	oboInOwl:hasDbXref	Orphanet:98141	Total autosomal monosomy syndrome	semapv:ManualMappingCuration
MONDO:0020054	obsolete partial autosomal monosomy	oboInOwl:hasDbXref	Orphanet:98142	Partial autosomal deletion syndrome	semapv:ManualMappingCuration
MONDO:0020055	obsolete autosomal uniparental disomy	oboInOwl:hasDbXref	Orphanet:98152	Autosomal uniparental disomy syndrome	semapv:ManualMappingCuration
MONDO:0020056	obsolete uniparental disomy of maternal origin	oboInOwl:hasDbXref	Orphanet:98153	Maternal uniparental disomy syndrome	semapv:ManualMappingCuration
MONDO:0020057	obsolete uniparental disomy of paternal origin	oboInOwl:hasDbXref	Orphanet:98154	Paternal uniparental disomy syndrome	semapv:ManualMappingCuration
MONDO:0020058	gonosome anomaly	oboInOwl:hasDbXref	Orphanet:98155	Sex-chromosome anomaly syndrome	semapv:ManualMappingCuration
MONDO:0020059	obsolete gonosome number anomaly	oboInOwl:hasDbXref	Orphanet:98156	Sex-chromosome number anomaly syndrome	semapv:ManualMappingCuration
MONDO:0020060	obsolete gonosome structural anomaly	oboInOwl:hasDbXref	Orphanet:98157	Sex-chromosome structural anomaly syndrome	semapv:ManualMappingCuration
MONDO:0020061	obsolete chromosome Y structural anomaly	oboInOwl:hasDbXref	Orphanet:98158	Chromosome Y structural anomaly syndrome	semapv:ManualMappingCuration
MONDO:0020062	obsolete chromosome X structural anomaly	oboInOwl:hasDbXref	Orphanet:98159	Chromosome X structural anomaly syndrome	semapv:ManualMappingCuration
MONDO:0020063	obsolete malformation syndrome with hamartosis	oboInOwl:hasDbXref	Orphanet:98196	Malformation syndrome with hamartosis	semapv:ManualMappingCuration
MONDO:0020064	pulmonary valve agenesis	oboInOwl:hasDbXref	Orphanet:982	Pulmonary valve agenesis	semapv:ManualMappingCuration
MONDO:0020065	combined dystonia	oboInOwl:hasDbXref	Orphanet:98203	Combined dystonia	semapv:ManualMappingCuration
MONDO:0020066	Ehlers-Danlos syndrome	oboInOwl:hasDbXref	Orphanet:98249	Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0020068	postinfectious encephalitis	oboInOwl:hasDbXref	Orphanet:98253	OBSOLETE: Postinfectious encephalitis	semapv:ManualMappingCuration
MONDO:0020069	obsolete chronic encephalitis	oboInOwl:hasDbXref	Orphanet:98255	Chronic encephalitis	semapv:ManualMappingCuration
MONDO:0020070	neonatal epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:98257	Neonatal epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0020071	infantile epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:98258	Infantile epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0020072	childhood-onset epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:98259	Childhood-onset epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0020073	obsolete adolescent-onset epilepsy syndrome	oboInOwl:hasDbXref	Orphanet:98260	Adolescent-onset epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0020074	progressive myoclonus epilepsy	oboInOwl:hasDbXref	Orphanet:98261	Progressive myoclonic epilepsy	semapv:ManualMappingCuration
MONDO:0020075	obsolete hereditary non-syndromic obesity	oboInOwl:hasDbXref	Orphanet:98267	Genetic non-syndromic obesity	semapv:ManualMappingCuration
MONDO:0020076	myeloproliferative neoplasm	oboInOwl:hasDbXref	Orphanet:98274	Myeloproliferative neoplasm	semapv:ManualMappingCuration
MONDO:0020077	myelodysplastic/myeloproliferative disease	oboInOwl:hasDbXref	Orphanet:98275	Myelodysplastic/myeloproliferative disease	semapv:ManualMappingCuration
MONDO:0020078	obsolete acute myeloid leukemia with recurrent genetic anomaly	oboInOwl:hasDbXref	Orphanet:98277	Acute myeloid leukemia with recurrent genetic anomaly	semapv:ManualMappingCuration
MONDO:0020081	obsolete macrophage or histiocytic tumor	oboInOwl:hasDbXref	Orphanet:98288	Macrophage or histiocytic tumor	semapv:ManualMappingCuration
MONDO:0020082	dendritic cell tumor	oboInOwl:hasDbXref	Orphanet:98289	Dendritic cell tumor	semapv:ManualMappingCuration
MONDO:0020083	immunodeficiency-associated lymphoproliferative disease	oboInOwl:hasDbXref	Orphanet:98290	Immunodeficiency-associated lymphoproliferative disease	semapv:ManualMappingCuration
MONDO:0020084	obsolete lymphoproliferative disease associated with primary immune disease	oboInOwl:hasDbXref	Orphanet:98291	Lymphoproliferative disease associated with primary immune disease	semapv:ManualMappingCuration
MONDO:0020087	hereditary lipodystrophy	oboInOwl:hasDbXref	Orphanet:98305	Genetic lipodystrophy	semapv:ManualMappingCuration
MONDO:0020088	familial partial lipodystrophy	oboInOwl:hasDbXref	Orphanet:98306	Familial partial lipodystrophy	semapv:ManualMappingCuration
MONDO:0020089	acquired lipodystrophy	oboInOwl:hasDbXref	Orphanet:98307	Acquired lipodystrophy	semapv:ManualMappingCuration
MONDO:0020090	obsolete male infertility due to gonadal dysgenesis	oboInOwl:hasDbXref	Orphanet:98313	Male infertility due to gonadal dysgenesis	semapv:ManualMappingCuration
MONDO:0020091	obsolete male infertility due to obstructive azoospermia	oboInOwl:hasDbXref	Orphanet:98343	Male infertility due to obstructive azoospermia	semapv:ManualMappingCuration
MONDO:0020092	obsolete rare idiopathic male infertility	oboInOwl:hasDbXref	Orphanet:98345	OBSOLETE: Rare idiopathic male infertility	semapv:ManualMappingCuration
MONDO:0020093	obsolete autosomal dominant isolated diffuse palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:98349	Autosomal dominant isolated diffuse palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0020094	obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:98352	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0020095	obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:98353	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0020096	obsolete autosomal recessive isolated diffuse palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:98356	Autosomal recessive isolated diffuse palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0020097	obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature	oboInOwl:hasDbXref	Orphanet:98357	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	semapv:ManualMappingCuration
MONDO:0020098	obsolete constitutional anemia due to iron metabolism disorder	oboInOwl:hasDbXref	Orphanet:98360	Constitutional anemia due to iron metabolism disorder	semapv:ManualMappingCuration
MONDO:0020099	inherited sideroblastic anemia	oboInOwl:hasDbXref	Orphanet:98362	Constitutional sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0020100	obsolete rare hemolytic anemia	oboInOwl:hasDbXref	Orphanet:98363	Rare hemolytic anemia	semapv:ManualMappingCuration
MONDO:0020101	obsolete constitutional hemolytic anemia due to membrane defect	oboInOwl:hasDbXref	Orphanet:98364	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	semapv:ManualMappingCuration
MONDO:0020102	hereditary stomatocytosis	oboInOwl:hasDbXref	Orphanet:98365	Hereditary stomatocytosis	semapv:ManualMappingCuration
MONDO:0020103	obsolete constitutional hemolytic anemia due to acanthocytosis	oboInOwl:hasDbXref	Orphanet:98366	Constitutional hemolytic anemia due to acanthocytosis	semapv:ManualMappingCuration
MONDO:0020104	obsolete rare constitutional hemolytic anemia due to an enzyme disorder	oboInOwl:hasDbXref	Orphanet:98369	Rare constitutional hemolytic anemia due to an enzyme disorder	semapv:ManualMappingCuration
MONDO:0020105	obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	oboInOwl:hasDbXref	Orphanet:98370	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	semapv:ManualMappingCuration
MONDO:0020106	obsolete hemolytic anemia due to a disorder of glycolytic enzymes	oboInOwl:hasDbXref	Orphanet:98372	Hemolytic anemia due to a disorder of glycolytic enzymes	semapv:ManualMappingCuration
MONDO:0020107	obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	oboInOwl:hasDbXref	Orphanet:98374	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	semapv:ManualMappingCuration
MONDO:0020108	autoimmune hemolytic anemia	oboInOwl:hasDbXref	Orphanet:98375	Autoimmune hemolytic anemia	semapv:ManualMappingCuration
MONDO:0020109	obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	oboInOwl:hasDbXref	Orphanet:98396	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	semapv:ManualMappingCuration
MONDO:0020110	pulmonary agenesis	oboInOwl:hasDbXref	Orphanet:984	Pulmonary agenesis	semapv:ManualMappingCuration
MONDO:0020111	obsolete constitutional megaloblastic anemia due to folate metabolism disorder	oboInOwl:hasDbXref	Orphanet:98408	Constitutional megaloblastic anemia due to folate metabolism disorder	semapv:ManualMappingCuration
MONDO:0020112	vitamin B12- and folate-independent constitutional megaloblastic anemia	oboInOwl:hasDbXref	Orphanet:98415	Vitamin B12- and folate-independent constitutional megaloblastic anemia	semapv:ManualMappingCuration
MONDO:0020113	primary acquired red cell aplasia	oboInOwl:hasDbXref	Orphanet:98421	Primary acquired red cell aplasia	semapv:ManualMappingCuration
MONDO:0020115	secondary polycythemia	oboInOwl:hasDbXref	Orphanet:98428	Secondary polycythemia	semapv:ManualMappingCuration
MONDO:0020116	obsolete rare blood coagulation disease	oboInOwl:hasDbXref	Orphanet:98429	Rare coagulation disorder	semapv:ManualMappingCuration
MONDO:0020117	alpha granule disease	oboInOwl:hasDbXref	Orphanet:98455	Alpha granule disease	semapv:ManualMappingCuration
MONDO:0020118	obsolete dense granule disease	oboInOwl:hasDbXref	Orphanet:98456	Dense granule disease	semapv:ManualMappingCuration
MONDO:0020119	X-linked syndromic intellectual disability	oboInOwl:hasDbXref	Orphanet:98464	OBSOLETE: X-linked syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0020120	skeletal muscle disorder	oboInOwl:hasDbXref	Orphanet:98472	Skeletal muscle disease	semapv:ManualMappingCuration
MONDO:0020121	muscular dystrophy	oboInOwl:hasDbXref	Orphanet:98473	Muscular dystrophy	semapv:ManualMappingCuration
MONDO:0020122	acquired idiopathic inflammatory myopathy	oboInOwl:hasDbXref	Orphanet:98482	Idiopathic inflammatory myopathy	semapv:ManualMappingCuration
MONDO:0020123	metabolic myopathy	oboInOwl:hasDbXref	Orphanet:98486	Metabolic myopathy	semapv:ManualMappingCuration
MONDO:0020124	neuromuscular junction disease	oboInOwl:hasDbXref	Orphanet:98491	Neuromuscular junction disease	semapv:ManualMappingCuration
MONDO:0020125	obsolete acquired neuromuscular junction disease	oboInOwl:hasDbXref	Orphanet:98494	Acquired neuromuscular junction disease	semapv:ManualMappingCuration
MONDO:0020126	obsolete rare peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:98496	Rare peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0020127	hereditary peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:98497	Genetic peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0020128	motor neuron disorder	oboInOwl:hasDbXref	Orphanet:98503	Motor neuron disease	semapv:ManualMappingCuration
MONDO:0020129	acquired motor neuron disease	oboInOwl:hasDbXref	Orphanet:98506	Acquired motor neuron disease	semapv:ManualMappingCuration
MONDO:0020130	obsolete malformation of the cerebellar vermis	oboInOwl:hasDbXref	Orphanet:98514	Malformation of the cerebellar vermis	semapv:ManualMappingCuration
MONDO:0020131	obsolete malformation of the cerebellar hemispheres	oboInOwl:hasDbXref	Orphanet:98516	Malformation of the cerebellar hemispheres	semapv:ManualMappingCuration
MONDO:0020132	obsolete cranial nerve and nuclear aplasia	oboInOwl:hasDbXref	Orphanet:98518	Cranial nerve and nuclear aplasia	semapv:ManualMappingCuration
MONDO:0020133	obsolete posterior fossa malformation	oboInOwl:hasDbXref	Orphanet:98519	Posterior fossa malformation	semapv:ManualMappingCuration
MONDO:0020134	cystic malformation of the posterior fossa	oboInOwl:hasDbXref	Orphanet:98520	OBSOLETE: Cystic malformation of the posterior fossa	semapv:ManualMappingCuration
MONDO:0020135	pontocerebellar hypoplasia	oboInOwl:hasDbXref	Orphanet:98523	Non-syndromic pontocerebellar hypoplasia	semapv:ManualMappingCuration
MONDO:0020136	obsolete neurodegenerative disease with dementia	oboInOwl:hasDbXref	Orphanet:98534	Neurodegenerative disease with dementia	semapv:ManualMappingCuration
MONDO:0020137	obsolete frontotemporal degeneration with dementia	oboInOwl:hasDbXref	Orphanet:98535	Frontotemporal degeneration with dementia	semapv:ManualMappingCuration
MONDO:0020138	obsolete ataxia with dementia	oboInOwl:hasDbXref	Orphanet:98538	Ataxia with dementia	semapv:ManualMappingCuration
MONDO:0020139	obsolete early-onset ataxia with dementia	oboInOwl:hasDbXref	Orphanet:98539	Early-onset ataxia with dementia	semapv:ManualMappingCuration
MONDO:0020140	obsolete late-onset ataxia with dementia	oboInOwl:hasDbXref	Orphanet:98540	Late-onset ataxia with dementia	semapv:ManualMappingCuration
MONDO:0020141	obsolete infectious disease with dementia	oboInOwl:hasDbXref	Orphanet:98542	Infectious disease with dementia	semapv:ManualMappingCuration
MONDO:0020142	obsolete metabolic disease with dementia	oboInOwl:hasDbXref	Orphanet:98543	Metabolic disease with dementia	semapv:ManualMappingCuration
MONDO:0020143	cerebral lipidosis with dementia	oboInOwl:hasDbXref	Orphanet:98544	Cerebral lipidosis with dementia	semapv:ManualMappingCuration
MONDO:0020144	obsolete cerebrovascular dementia	oboInOwl:hasDbXref	Orphanet:98549	Rare cerebrovascular dementia	semapv:ManualMappingCuration
MONDO:0020145	obsolete developmental defect of the eye	oboInOwl:hasDbXref	Orphanet:98553	Developmental defect of the eye	semapv:ManualMappingCuration
MONDO:0020146	obsolete major induction processes eye anomaly	oboInOwl:hasDbXref	Orphanet:98554	OBSOLETE: Major induction processes eye anomaly	semapv:ManualMappingCuration
MONDO:0020147	obsolete anophthalmia-microphthalmia syndrome	oboInOwl:hasDbXref	Orphanet:98555	Microphthalmia-anophthalmia-coloboma	semapv:ManualMappingCuration
MONDO:0020148	obsolete syndromic aniridia	oboInOwl:hasDbXref	Orphanet:98557	Syndromic aniridia	semapv:ManualMappingCuration
MONDO:0020149	obsolete rare eye disease due to a differentiation anomaly	oboInOwl:hasDbXref	Orphanet:98558	OBSOLETE: Rare eye disease due to a differentiation anomaly	semapv:ManualMappingCuration
MONDO:0020150	obsolete obsolete rare palpebral, lacrimal system and conjunctival disease	oboInOwl:hasDbXref	Orphanet:98559	OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease	semapv:ManualMappingCuration
MONDO:0020151	obsolete rare palpebral disease	oboInOwl:hasDbXref	Orphanet:98560	Rare palpebral disorder	semapv:ManualMappingCuration
MONDO:0020152	obsolete rare eyelid malformation	oboInOwl:hasDbXref	Orphanet:98561	Congenital malformation of the eyelid	semapv:ManualMappingCuration
MONDO:0020153	cryptophthalmia	oboInOwl:hasDbXref	Orphanet:98562	Cryptophthalmia	semapv:ManualMappingCuration
MONDO:0020154	obsolete microblepharon-ablephara syndrome	oboInOwl:hasDbXref	Orphanet:98563	Microblepharon-ablephara syndrome	semapv:ManualMappingCuration
MONDO:0020155	obsolete eyelid border anomaly	oboInOwl:hasDbXref	Orphanet:98564	Eyelid border anomaly	semapv:ManualMappingCuration
MONDO:0020156	obsolete syndromic ankyloblepharon	oboInOwl:hasDbXref	Orphanet:98565	Syndromic ankyloblepharon filiforme adnatum	semapv:ManualMappingCuration
MONDO:0020157	obsolete syndromic palpebral coloboma	oboInOwl:hasDbXref	Orphanet:98566	Syndromic eyelid coloboma	semapv:ManualMappingCuration
MONDO:0020158	obsolete eyelids malposition disorder	oboInOwl:hasDbXref	Orphanet:98567	Rare eyelid malposition disorder	semapv:ManualMappingCuration
MONDO:0020159	congenital entropion	oboInOwl:hasDbXref	Orphanet:98568	OBSOLETE: Congenital entropion	semapv:ManualMappingCuration
MONDO:0020160	obsolete secondary entropion	oboInOwl:hasDbXref	Orphanet:98569	OBSOLETE: Secondary entropion	semapv:ManualMappingCuration
MONDO:0020161	congenital ectropion	oboInOwl:hasDbXref	Orphanet:98570	Congenital ectropion	semapv:ManualMappingCuration
MONDO:0020162	obsolete secondary ectropion	oboInOwl:hasDbXref	Orphanet:98571	Secondary ectropion	semapv:ManualMappingCuration
MONDO:0020163	obsolete canthal anomaly	oboInOwl:hasDbXref	Orphanet:98572	OBSOLETE: Canthal anomaly	semapv:ManualMappingCuration
MONDO:0020164	obsolete epicanthal fold	oboInOwl:hasDbXref	Orphanet:98573	OBSOLETE: Epicanthal fold	semapv:ManualMappingCuration
MONDO:0020165	obsolete syndromic epicanthus	oboInOwl:hasDbXref	Orphanet:98574	Syndromic epicanthus	semapv:ManualMappingCuration
MONDO:0020167	obsolete malposition of external canthus	oboInOwl:hasDbXref	Orphanet:98576	Syndromic outer canthal malposition	semapv:ManualMappingCuration
MONDO:0020168	obsolete kinetic eyelid anomaly	oboInOwl:hasDbXref	Orphanet:98577	OBSOLETE: Kinetic eyelid anomaly	semapv:ManualMappingCuration
MONDO:0020169	obsolete rare disorder with ptosis	oboInOwl:hasDbXref	Orphanet:98578	Rare disorder with ptosis	semapv:ManualMappingCuration
MONDO:0020170	obsolete congenital upper palpebral retraction	oboInOwl:hasDbXref	Orphanet:98579	OBSOLETE: Congenital upper palpebral retraction	semapv:ManualMappingCuration
MONDO:0020172	palpebral epidermal tumor	oboInOwl:hasDbXref	Orphanet:98581	OBSOLETE: Palpebral epidermal tumor	semapv:ManualMappingCuration
MONDO:0020173	benign tumor of palpebral epidermis	oboInOwl:hasDbXref	Orphanet:98582	OBSOLETE: Benign tumor of palpebral epidermis	semapv:ManualMappingCuration
MONDO:0020174	obsolete precancerous lesion of palpebral epidermis	oboInOwl:hasDbXref	Orphanet:98583	OBSOLETE: Precancerous lesion of palpebral epidermis	semapv:ManualMappingCuration
MONDO:0020176	obsolete palpebral sebaceous gland tumor	oboInOwl:hasDbXref	Orphanet:98585	OBSOLETE: Palpebral sebaceous gland tumor	semapv:ManualMappingCuration
MONDO:0020177	obsolete pigmented palpebral tumor	oboInOwl:hasDbXref	Orphanet:98586	OBSOLETE: Pigmented palpebral tumor	semapv:ManualMappingCuration
MONDO:0020178	obsolete palpebral lentiginosis	oboInOwl:hasDbXref	Orphanet:98587	OBSOLETE: Palpebral lentiginosis	semapv:ManualMappingCuration
MONDO:0020179	palpebral nevus	oboInOwl:hasDbXref	Orphanet:98588	OBSOLETE: Palpebral nevus	semapv:ManualMappingCuration
MONDO:0020180	obsolete palpebral piliary tumor	oboInOwl:hasDbXref	Orphanet:98590	OBSOLETE: Palpebral piliary tumor	semapv:ManualMappingCuration
MONDO:0020181	obsolete mesenchymatous palpebral tumor	oboInOwl:hasDbXref	Orphanet:98591	OBSOLETE: Mesenchymatous palpebral tumor	semapv:ManualMappingCuration
MONDO:0020182	obsolete palpebral tumor with a vascular malformation	oboInOwl:hasDbXref	Orphanet:98592	OBSOLETE: Palpebral tumor with a vascular malformation	semapv:ManualMappingCuration
MONDO:0020183	neurogenic palpebral tumor	oboInOwl:hasDbXref	Orphanet:98593	OBSOLETE: Neurogenic palpebral tumor	semapv:ManualMappingCuration
MONDO:0020184	obsolete rare eyebrow/eyelashes anomaly	oboInOwl:hasDbXref	Orphanet:98594	Rare eyebrow/eyelash disorder	semapv:ManualMappingCuration
MONDO:0020185	obsolete eyebrow/eyelashes hypertrichosis	oboInOwl:hasDbXref	Orphanet:98595	OBSOLETE: Eyebrow/eyelashes hypertrichosis	semapv:ManualMappingCuration
MONDO:0020186	obsolete eyebrow hypertrophy	oboInOwl:hasDbXref	Orphanet:98596	OBSOLETE: Eyebrow hypertrophy	semapv:ManualMappingCuration
MONDO:0020187	obsolete eyelashes hypertrophy	oboInOwl:hasDbXref	Orphanet:98597	OBSOLETE: Eyelashes hypertrophy	semapv:ManualMappingCuration
MONDO:0020188	obsolete congenital absence of the eyebrow/eyelashes	oboInOwl:hasDbXref	Orphanet:98598	OBSOLETE: Congenital absence of the eyebrow/eyelashes	semapv:ManualMappingCuration
MONDO:0020189	obsolete eyebrow/eyelashes structural anomaly	oboInOwl:hasDbXref	Orphanet:98599	OBSOLETE: Eyebrow/eyelashes structural anomaly	semapv:ManualMappingCuration
MONDO:0020190	obsolete eyebrow/eyelashes distichiasis	oboInOwl:hasDbXref	Orphanet:98600	OBSOLETE: Eyebrow/eyelashes distichiasis	semapv:ManualMappingCuration
MONDO:0020191	obsolete eyebrow/eyelashes pigmentation anomaly	oboInOwl:hasDbXref	Orphanet:98601	OBSOLETE: Eyebrow/eyelashes pigmentation anomaly	semapv:ManualMappingCuration
MONDO:0020192	obsolete rare lacrimal system disease	oboInOwl:hasDbXref	Orphanet:98602	Rare disorder of the lacrimal apparatus	semapv:ManualMappingCuration
MONDO:0020193	obsolete secretory apparatus of the lacrimal system anomaly	oboInOwl:hasDbXref	Orphanet:98603	OBSOLETE: Secretory apparatus of the lacrimal system anomaly	semapv:ManualMappingCuration
MONDO:0020194	obsolete congenital alacrima	oboInOwl:hasDbXref	Orphanet:98604	Congenital alacrima	semapv:ManualMappingCuration
MONDO:0020195	obsolete excretory apparatus of the lacrimal system anomaly	oboInOwl:hasDbXref	Orphanet:98605	Lacrimal drainage system anomaly	semapv:ManualMappingCuration
MONDO:0020196	obsolete anomaly of the secretory and excretory apparatus of the lacrimal system	oboInOwl:hasDbXref	Orphanet:98608	OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system	semapv:ManualMappingCuration
MONDO:0020197	obsolete EEC syndrome and related syndrome	oboInOwl:hasDbXref	Orphanet:98609	EEC syndrome and related disorders	semapv:ManualMappingCuration
MONDO:0020198	obsolete rare conjunctival disease	oboInOwl:hasDbXref	Orphanet:98610	Rare disorder with conjunctival involvement as a major feature	semapv:ManualMappingCuration
MONDO:0020199	obsolete conjunctival vascular anomaly	oboInOwl:hasDbXref	Orphanet:98611	OBSOLETE: Conjunctival vascular anomaly	semapv:ManualMappingCuration
MONDO:0020200	obsolete conjunctival hemangioma or hemolymphangioma	oboInOwl:hasDbXref	Orphanet:98612	OBSOLETE: Conjunctival hemangioma or hemolymphangioma	semapv:ManualMappingCuration
MONDO:0020201	obsolete conjunctival telangiectasia	oboInOwl:hasDbXref	Orphanet:98613	OBSOLETE: Conjunctival telangiectasia	semapv:ManualMappingCuration
MONDO:0020202	obsolete conjunctival lymphangiectasia	oboInOwl:hasDbXref	Orphanet:98614	OBSOLETE: Conjunctival lymphangiectasia	semapv:ManualMappingCuration
MONDO:0020203	obsolete pigmented conjunctival lesion	oboInOwl:hasDbXref	Orphanet:98615	OBSOLETE: Pigmented conjunctival lesion	semapv:ManualMappingCuration
MONDO:0020204	conjunctival tumor	oboInOwl:hasDbXref	Orphanet:98616	OBSOLETE: Conjunctival tumor	semapv:ManualMappingCuration
MONDO:0020205	obsolete bulbar conjunctival dermoid or conjunctival dermolipoma	oboInOwl:hasDbXref	Orphanet:98617	OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma	semapv:ManualMappingCuration
MONDO:0020206	obsolete rare refraction anomaly	oboInOwl:hasDbXref	Orphanet:98618	Rare refraction anomaly	semapv:ManualMappingCuration
MONDO:0020207	obsolete rare isolated myopia	oboInOwl:hasDbXref	Orphanet:98619	Rare isolated myopia	semapv:ManualMappingCuration
MONDO:0020208	obsolete syndromic myopia	oboInOwl:hasDbXref	Orphanet:98620	OBSOLETE: Syndromic myopia	semapv:ManualMappingCuration
MONDO:0020209	obsolete rare hyperopia and astigmatism	oboInOwl:hasDbXref	Orphanet:98621	Rare hyperopia and astigmatism	semapv:ManualMappingCuration
MONDO:0020210	obsolete syndromic hyperopia	oboInOwl:hasDbXref	Orphanet:98622	Syndromic hyperopia	semapv:ManualMappingCuration
MONDO:0020211	obsolete syndromic keratoconus	oboInOwl:hasDbXref	Orphanet:98623	Syndromic keratoconus	semapv:ManualMappingCuration
MONDO:0020212	superficial corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98625	Superficial corneal dystrophy	semapv:ManualMappingCuration
MONDO:0020213	stromal corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98626	Stromal corneal dystrophy	semapv:ManualMappingCuration
MONDO:0020214	posterior corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98627	Posterior corneal dystrophy	semapv:ManualMappingCuration
MONDO:0020215	obsolete syndromic corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98628	Syndromic corneal dystrophy	semapv:ManualMappingCuration
MONDO:0020216	obsolete secondary dysgenetic glaucoma	oboInOwl:hasDbXref	Orphanet:98631	Congenital malformation of the eye with glaucoma as a major feature	semapv:ManualMappingCuration
MONDO:0020217	obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly	oboInOwl:hasDbXref	Orphanet:98632	OBSOLETE: Glaucoma associated with neural crest cell migration anomaly	semapv:ManualMappingCuration
MONDO:0020218	obsolete goniodysgenesis	oboInOwl:hasDbXref	Orphanet:98633	OBSOLETE: Goniodysgenesis	semapv:ManualMappingCuration
MONDO:0020219	obsolete corneogoniodysgenesis	oboInOwl:hasDbXref	Orphanet:98635	Corneodysgenesis	semapv:ManualMappingCuration
MONDO:0020220	obsolete corneoiridogoniodysgenesis	oboInOwl:hasDbXref	Orphanet:98636	OBSOLETE: Corneoiridogoniodysgenesis	semapv:ManualMappingCuration
MONDO:0020221	obsolete secondary glaucoma due to a proliferation and differentiation anomaly	oboInOwl:hasDbXref	Orphanet:98637	OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly	semapv:ManualMappingCuration
MONDO:0020222	obsolete rare disease with glaucoma as a major feature	oboInOwl:hasDbXref	Orphanet:98638	Rare disease with glaucoma as a major feature	semapv:ManualMappingCuration
MONDO:0020223	obsolete lens and zonula anomaly	oboInOwl:hasDbXref	Orphanet:98639	Rare lens disease	semapv:ManualMappingCuration
MONDO:0020224	obsolete rare cataract	oboInOwl:hasDbXref	Orphanet:98640	Rare disorder with lens opacification	semapv:ManualMappingCuration
MONDO:0020225	obsolete syndromic cataract	oboInOwl:hasDbXref	Orphanet:98641	Syndromic cataract	semapv:ManualMappingCuration
MONDO:0020226	obsolete chromosomal anomaly with cataract	oboInOwl:hasDbXref	Orphanet:98642	Chromosomal anomaly with cataract	semapv:ManualMappingCuration
MONDO:0020227	obsolete systemic disease with cataract	oboInOwl:hasDbXref	Orphanet:98643	OBSOLETE: Systemic disease with cataract	semapv:ManualMappingCuration
MONDO:0020228	obsolete cataract associated with a metabolic disease	oboInOwl:hasDbXref	Orphanet:98644	Metabolic disease with cataract	semapv:ManualMappingCuration
MONDO:0020229	obsolete cerebral disease with cataract	oboInOwl:hasDbXref	Orphanet:98645	OBSOLETE: Cerebral disease with cataract	semapv:ManualMappingCuration
MONDO:0020230	obsolete renal disease with cataract	oboInOwl:hasDbXref	Orphanet:98646	Renal disease with cataract	semapv:ManualMappingCuration
MONDO:0020231	obsolete cardiac disease with cataract	oboInOwl:hasDbXref	Orphanet:98647	OBSOLETE: Cardiac disease with cataract	semapv:ManualMappingCuration
MONDO:0020232	obsolete musculoskeletal disease with cataract	oboInOwl:hasDbXref	Orphanet:98648	Musculoskeletal disease with cataract	semapv:ManualMappingCuration
MONDO:0020233	obsolete dentocutaneous disease with cataract	oboInOwl:hasDbXref	Orphanet:98649	Dentocutaneous disease with cataract	semapv:ManualMappingCuration
MONDO:0020234	obsolete craniofacial anomaly with cataract	oboInOwl:hasDbXref	Orphanet:98650	Craniofacial anomaly with cataract	semapv:ManualMappingCuration
MONDO:0020235	obsolete lens size anomaly	oboInOwl:hasDbXref	Orphanet:98652	Lens size anomaly	semapv:ManualMappingCuration
MONDO:0020236	obsolete lens position anomaly	oboInOwl:hasDbXref	Orphanet:98653	Lens position anomaly	semapv:ManualMappingCuration
MONDO:0020237	obsolete lens shape anomaly	oboInOwl:hasDbXref	Orphanet:98655	Lens shape anomaly	semapv:ManualMappingCuration
MONDO:0020238	obsolete inherited vitreous-retinal disease	oboInOwl:hasDbXref	Orphanet:98657	OBSOLETE: Genetic vitreous-retinal disease	semapv:ManualMappingCuration
MONDO:0020240	obsolete syndromic retinitis pigmentosa	oboInOwl:hasDbXref	Orphanet:98661	Syndromic rod-cone dystrophy	semapv:ManualMappingCuration
MONDO:0020241	obsolete unclassified familial retinal dystrophy	oboInOwl:hasDbXref	Orphanet:98662	OBSOLETE: Unclassified familial retinal dystrophy	semapv:ManualMappingCuration
MONDO:0020242	hereditary macular dystrophy	oboInOwl:hasDbXref	Orphanet:98664	OBSOLETE: Genetic macular dystrophy	semapv:ManualMappingCuration
MONDO:0020243	obsolete colobomatous and areolar dystrophy	oboInOwl:hasDbXref	Orphanet:98665	OBSOLETE: Colobomatous and areolar dystrophy	semapv:ManualMappingCuration
MONDO:0020244	obsolete unclassified primitive or secondary maculopathy	oboInOwl:hasDbXref	Orphanet:98666	OBSOLETE: Unclassified primitive or secondary maculopathy	semapv:ManualMappingCuration
MONDO:0020245	obsolete disease predisposing to age-related macular degeneration	oboInOwl:hasDbXref	Orphanet:98667	OBSOLETE: Disease predisposing to age-related macular degeneration	semapv:ManualMappingCuration
MONDO:0020246	inherited vitreoretinopathy	oboInOwl:hasDbXref	Orphanet:98668	Vitreoretinopathy	semapv:ManualMappingCuration
MONDO:0020247	congenital vitreoretinal dysplasia	oboInOwl:hasDbXref	Orphanet:98669	OBSOLETE: Congenital vitreoretinal dysplasia	semapv:ManualMappingCuration
MONDO:0020248	vitreoretinal degeneration	oboInOwl:hasDbXref	Orphanet:98670	OBSOLETE: Vitreoretinal degeneration	semapv:ManualMappingCuration
MONDO:0020249	hereditary optic neuropathy	oboInOwl:hasDbXref	Orphanet:98671	Hereditary optic neuropathy	semapv:ManualMappingCuration
MONDO:0020250	autosomal dominant optic atrophy	oboInOwl:hasDbXref	Orphanet:98672	Autosomal dominant optic atrophy	semapv:ManualMappingCuration
MONDO:0020251	obsolete rare strabismus and restriction syndrome	oboInOwl:hasDbXref	Orphanet:98681	Rare disorder with strabismus	semapv:ManualMappingCuration
MONDO:0020252	essential strabismus	oboInOwl:hasDbXref	Orphanet:98682	NON RARE IN EUROPE: Essential strabismus	semapv:ManualMappingCuration
MONDO:0020253	obsolete syndrome with a symptomatic strabismus	oboInOwl:hasDbXref	Orphanet:98683	Syndromic disorder with strabismus	semapv:ManualMappingCuration
MONDO:0020254	obsolete craniostenosis associated with a strabismus	oboInOwl:hasDbXref	Orphanet:98684	Craniostenosis with strabismus	semapv:ManualMappingCuration
MONDO:0020256	obsolete congenital trochlear nerve palsy	oboInOwl:hasDbXref	Orphanet:98686	Congenital trochlear nerve palsy	semapv:ManualMappingCuration
MONDO:0020257	supranuclear oculomotor palsy	oboInOwl:hasDbXref	Orphanet:98687	Supranuclear eye movement disorder	semapv:ManualMappingCuration
MONDO:0020258	obsolete oculomotor apraxia or related oculomotor disease	oboInOwl:hasDbXref	Orphanet:98688	Oculomotor apraxia	semapv:ManualMappingCuration
MONDO:0020259	obsolete myopathy with eye involvement	oboInOwl:hasDbXref	Orphanet:98689	OBSOLETE: Myopathy with eye involvement	semapv:ManualMappingCuration
MONDO:0020260	obsolete myasthenic syndrome with eye involvement	oboInOwl:hasDbXref	Orphanet:98690	OBSOLETE: Myasthenic syndrome with eye involvement	semapv:ManualMappingCuration
MONDO:0020261	obsolete neurological disease with abnormal eye movements	oboInOwl:hasDbXref	Orphanet:98691	OBSOLETE: Abnormal eye movements	semapv:ManualMappingCuration
MONDO:0020262	obsolete nervous system anomaly with eye involvement	oboInOwl:hasDbXref	Orphanet:98692	OBSOLETE: Nervous system anomaly with eye involvement	semapv:ManualMappingCuration
MONDO:0020263	obsolete spinocerebellar ataxia with oculomotor anomaly	oboInOwl:hasDbXref	Orphanet:98693	OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly	semapv:ManualMappingCuration
MONDO:0020264	obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly	oboInOwl:hasDbXref	Orphanet:98694	OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly	semapv:ManualMappingCuration
MONDO:0020265	obsolete mitochondrial disease with eye involvement	oboInOwl:hasDbXref	Orphanet:98695	OBSOLETE: Mitochondrial disease with eye involvement	semapv:ManualMappingCuration
MONDO:0020266	obsolete genodermatosis with ocular features	oboInOwl:hasDbXref	Orphanet:98696	OBSOLETE: Genodermatosis with ocular features	semapv:ManualMappingCuration
MONDO:0020267	obsolete genetic keratinization disorder associated with ocular features	oboInOwl:hasDbXref	Orphanet:98697	OBSOLETE: Genetic keratinization disorder associated with ocular features	semapv:ManualMappingCuration
MONDO:0020268	obsolete ichthyosis associated with ocular features	oboInOwl:hasDbXref	Orphanet:98698	OBSOLETE: Ichthyosis associated with ocular features	semapv:ManualMappingCuration
MONDO:0020269	obsolete syndromic ichthyosis associated with ocular features	oboInOwl:hasDbXref	Orphanet:98699	OBSOLETE: Syndromic ichthyosis associated with ocular features	semapv:ManualMappingCuration
MONDO:0020270	obsolete pigmentation disorder with eye involvement	oboInOwl:hasDbXref	Orphanet:98700	OBSOLETE: Pigmentation disorder with eye involvement	semapv:ManualMappingCuration
MONDO:0020271	obsolete phakomatosis with eye involvement	oboInOwl:hasDbXref	Orphanet:98701	OBSOLETE: Phakomatosis with eye involvement	semapv:ManualMappingCuration
MONDO:0020273	obsolete disease with potential neoplastic degeneration associated with ocular features	oboInOwl:hasDbXref	Orphanet:98703	OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features	semapv:ManualMappingCuration
MONDO:0020274	obsolete onycho-patellar syndrome with eye involvement	oboInOwl:hasDbXref	Orphanet:98704	OBSOLETE: Onycho-patellar syndrome with eye involvement	semapv:ManualMappingCuration
MONDO:0020275	obsolete oculocutaneous or ocular albinism	oboInOwl:hasDbXref	Orphanet:98706	Oculocutaneous or ocular albinism	semapv:ManualMappingCuration
MONDO:0020276	obsolete pigmentation disorder with eye involvement, excluding albinism	oboInOwl:hasDbXref	Orphanet:98708	OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism	semapv:ManualMappingCuration
MONDO:0020278	obsolete metabolic disease associated with ocular features	oboInOwl:hasDbXref	Orphanet:98710	OBSOLETE: Metabolic disease associated with ocular features	semapv:ManualMappingCuration
MONDO:0020279	obsolete metabolic disease with corneal opacity	oboInOwl:hasDbXref	Orphanet:98711	OBSOLETE: Metabolic disease with corneal opacity	semapv:ManualMappingCuration
MONDO:0020280	obsolete metabolic disease with cataract	oboInOwl:hasDbXref	Orphanet:98712	OBSOLETE: Metabolic disease with cataract	semapv:ManualMappingCuration
MONDO:0020281	obsolete metabolic disease with pigmentary retinitis	oboInOwl:hasDbXref	Orphanet:98713	OBSOLETE: Metabolic disease with pigmentary retinitis	semapv:ManualMappingCuration
MONDO:0020282	obsolete metabolic disease with macular cherry-red spot	oboInOwl:hasDbXref	Orphanet:98714	OBSOLETE: Metabolic disease with macular cherry-red spot	semapv:ManualMappingCuration
MONDO:0020283	uveitis	oboInOwl:hasDbXref	Orphanet:98715	Uveitis	semapv:ManualMappingCuration
MONDO:0020284	obsolete heart position anomaly	oboInOwl:hasDbXref	Orphanet:98716	Heart position anomaly	semapv:ManualMappingCuration
MONDO:0020285	obsolete transposition of the great arteries and conotruncal cardiac anomaly	oboInOwl:hasDbXref	Orphanet:98717	Transposition of the great arteries and conotruncal cardiac anomaly	semapv:ManualMappingCuration
MONDO:0020286	obsolete aortic malformation	oboInOwl:hasDbXref	Orphanet:98718	Aortic malformation	semapv:ManualMappingCuration
MONDO:0020287	obsolete pulmonary artery or pulmonary branch anomaly	oboInOwl:hasDbXref	Orphanet:98719	Pulmonary artery or pulmonary branch anomaly	semapv:ManualMappingCuration
MONDO:0020288	obsolete atrioventricular valve anomaly	oboInOwl:hasDbXref	Orphanet:98720	Atrioventricular valve anomaly	semapv:ManualMappingCuration
MONDO:0020289	congenital tricuspid malformation	oboInOwl:hasDbXref	Orphanet:98721	Congenital tricuspid malformation	semapv:ManualMappingCuration
MONDO:0020290	familial atrioventricular septal defect	oboInOwl:hasDbXref	Orphanet:98722	Atrioventricular septal defect	semapv:ManualMappingCuration
MONDO:0020291	hypoplastic right heart syndrome	oboInOwl:hasDbXref	Orphanet:98723	Hypoplastic right heart syndrome	semapv:ManualMappingCuration
MONDO:0020292	congenital anomaly of the great arteries	oboInOwl:hasDbXref	Orphanet:98724	Congenital anomaly of the great arteries	semapv:ManualMappingCuration
MONDO:0020293	obsolete ascending aorta anomaly	oboInOwl:hasDbXref	Orphanet:98725	Ascending aorta anomaly	semapv:ManualMappingCuration
MONDO:0020294	obsolete atrial defect and interatrial communication	oboInOwl:hasDbXref	Orphanet:98727	Rare atrial defect and interatrial communication	semapv:ManualMappingCuration
MONDO:0020295	congenital pulmonary veins anomaly	oboInOwl:hasDbXref	Orphanet:98729	Congenital pulmonary veins anomaly	semapv:ManualMappingCuration
MONDO:0020296	congenital arteriovenous fistula	oboInOwl:hasDbXref	Orphanet:98731	Congenital arteriovenous fistula	semapv:ManualMappingCuration
MONDO:0020297	Noonan syndrome and Noonan-related syndrome	oboInOwl:hasDbXref	Orphanet:98733	Noonan syndrome and Noonan-related syndrome	semapv:ManualMappingCuration
MONDO:0020298	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	oboInOwl:hasDbXref	Orphanet:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	semapv:ManualMappingCuration
MONDO:0020300	autosomal dominant nocturnal frontal lobe epilepsy	oboInOwl:hasDbXref	Orphanet:98784	Autosomal dominant nocturnal frontal lobe epilepsy	semapv:ManualMappingCuration
MONDO:0020301	Prader-Willi syndrome due to paternal 15q11q13 deletion	oboInOwl:hasDbXref	Orphanet:98793	Prader-Willi syndrome due to paternal 15q11q13 deletion	semapv:ManualMappingCuration
MONDO:0020302	Angelman syndrome due to maternal 15q11q13 deletion	oboInOwl:hasDbXref	Orphanet:98794	Angelman syndrome due to maternal 15q11q13 deletion	semapv:ManualMappingCuration
MONDO:0020303	Angelman syndrome due to paternal uniparental disomy of chromosome 15	oboInOwl:hasDbXref	Orphanet:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	semapv:ManualMappingCuration
MONDO:0020304	isochromosomy Yp	oboInOwl:hasDbXref	Orphanet:98797	Isochromosomy Yp syndrome	semapv:ManualMappingCuration
MONDO:0020305	isochromosomy Yq	oboInOwl:hasDbXref	Orphanet:98798	Isochromosomy Yq syndrome	semapv:ManualMappingCuration
MONDO:0020307	self-limited epilepsy with autonomic seizures	oboInOwl:hasDbXref	Orphanet:98815	Self-limited epilepsy with autonomic seizures	semapv:ManualMappingCuration
MONDO:0020308	childhood occipital visual epilepsy	oboInOwl:hasDbXref	Orphanet:98816	Childhood occipital visual epilepsy	semapv:ManualMappingCuration
MONDO:0020310	familial focal epilepsy with variable foci	oboInOwl:hasDbXref	Orphanet:98820	Familial focal epilepsy with variable foci	semapv:ManualMappingCuration
MONDO:0020311	chronic myelomonocytic leukemia	oboInOwl:hasDbXref	Orphanet:98823	Chronic myelomonocytic leukemia	semapv:ManualMappingCuration
MONDO:0020313	obsolete unclassified myelodysplastic/myeloproliferative disease	oboInOwl:hasDbXref	Orphanet:98825	Unclassified myelodysplastic/myeloproliferative disease	semapv:ManualMappingCuration
MONDO:0020315	obsolete unclassified myelodysplastic syndrome	oboInOwl:hasDbXref	Orphanet:98827	Unclassified myelodysplastic syndrome	semapv:ManualMappingCuration
MONDO:0020316	acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	oboInOwl:hasDbXref	Orphanet:98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	semapv:ManualMappingCuration
MONDO:0020317	acute myeloid leukemia with 11q23 abnormalities	oboInOwl:hasDbXref	Orphanet:98831	Acute myeloid leukemia with 11q23 abnormalities	semapv:ManualMappingCuration
MONDO:0020320	acute myeloblastic leukemia with maturation	oboInOwl:hasDbXref	Orphanet:98834	Acute myeloblastic leukemia with maturation	semapv:ManualMappingCuration
MONDO:0020321	acute undifferentiated leukemia	oboInOwl:hasDbXref	Orphanet:98835	Acute undifferentiated leukemia	semapv:ManualMappingCuration
MONDO:0020322	acute biphenotypic leukemia	oboInOwl:hasDbXref	Orphanet:98837	Acute biphenotypic leukemia	semapv:ManualMappingCuration
MONDO:0020323	primary mediastinal large B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:98838	Primary mediastinal large B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0020324	intravascular large B-cell lymphoma	oboInOwl:hasDbXref	Orphanet:98839	Intravascular large B-cell lymphoma	semapv:ManualMappingCuration
MONDO:0020325	anaplastic large cell lymphoma	oboInOwl:hasDbXref	Orphanet:98841	Anaplastic large cell lymphoma	semapv:ManualMappingCuration
MONDO:0020326	lymphomatoid papulosis	oboInOwl:hasDbXref	Orphanet:98842	Lymphomatoid papulosis	semapv:ManualMappingCuration
MONDO:0020331	indolent systemic mastocytosis	oboInOwl:hasDbXref	Orphanet:98848	Indolent systemic mastocytosis	semapv:ManualMappingCuration
MONDO:0020332	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	oboInOwl:hasDbXref	Orphanet:98849	Systemic mastocytosis with associated hematologic neoplasm	semapv:ManualMappingCuration
MONDO:0020333	aggressive systemic mastocytosis	oboInOwl:hasDbXref	Orphanet:98850	Aggressive systemic mastocytosis	semapv:ManualMappingCuration
MONDO:0020334	mast cell leukemia	oboInOwl:hasDbXref	Orphanet:158799	OBSOLETE: Aleukemic mast cell leukemia	semapv:ManualMappingCuration
MONDO:0020334	mast cell leukemia	oboInOwl:hasDbXref	Orphanet:98851	Mast cell leukemia	semapv:ManualMappingCuration
MONDO:0020336	autosomal dominant Emery-Dreifuss muscular dystrophy	oboInOwl:hasDbXref	Orphanet:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	semapv:ManualMappingCuration
MONDO:0020337	congenital dyserythropoietic anemia type 1	oboInOwl:hasDbXref	Orphanet:98869	Congenital dyserythropoietic anemia type I	semapv:ManualMappingCuration
MONDO:0020338	adult pure red cell aplasia	oboInOwl:hasDbXref	Orphanet:98872	Primary acquired pure red cell aplasia	semapv:ManualMappingCuration
MONDO:0020339	obsolete X-linked complex spastic paraplegia	oboInOwl:hasDbXref	Orphanet:98888	X-linked complex spastic paraplegia	semapv:ManualMappingCuration
MONDO:0020340	bilateral perisylvian polymicrogyria	oboInOwl:hasDbXref	Orphanet:98889	Bilateral perisylvian polymicrogyria	semapv:ManualMappingCuration
MONDO:0020341	periventricular nodular heterotopia	oboInOwl:hasDbXref	Orphanet:98892	Periventricular nodular heterotopia	semapv:ManualMappingCuration
MONDO:0020343	obsolete alpha-crystallinopathy	oboInOwl:hasDbXref	Orphanet:98910	Alpha-crystallinopathy	semapv:ManualMappingCuration
MONDO:0020344	postsynaptic congenital myasthenic syndrome	oboInOwl:hasDbXref	Orphanet:98913	Postsynaptic congenital myasthenic syndromes	semapv:ManualMappingCuration
MONDO:0020345	obsolete presynaptic congenital myasthenic syndrome	oboInOwl:hasDbXref	Orphanet:98914	Presynaptic congenital myasthenic syndromes	semapv:ManualMappingCuration
MONDO:0020346	obsolete synaptic congenital myasthenic syndrome	oboInOwl:hasDbXref	Orphanet:98915	Synaptic congenital myasthenic syndromes	semapv:ManualMappingCuration
MONDO:0020347	acute inflammatory demyelinating polyradiculoneuropathy	oboInOwl:hasDbXref	Orphanet:98916	Acute inflammatory demyelinating polyradiculoneuropathy	semapv:ManualMappingCuration
MONDO:0020348	acute motor and sensory axonal neuropathy	oboInOwl:hasDbXref	Orphanet:98917	Acute motor and sensory axonal neuropathy	semapv:ManualMappingCuration
MONDO:0020349	acute motor axonal neuropathy	oboInOwl:hasDbXref	Orphanet:98918	Acute motor axonal neuropathy	semapv:ManualMappingCuration
MONDO:0020351	Blake pouch cyst	oboInOwl:hasDbXref	Orphanet:98922	Blake pouch cyst	semapv:ManualMappingCuration
MONDO:0020352	multiple system atrophy, parkinsonian type	oboInOwl:hasDbXref	Orphanet:98933	Multiple system atrophy, parkinsonian type	semapv:ManualMappingCuration
MONDO:0020353	von Hippel anomaly	oboInOwl:hasDbXref	Orphanet:98941	OBSOLETE: Von Hippel anomaly	semapv:ManualMappingCuration
MONDO:0020354	coloboma of choroid and retina	oboInOwl:hasDbXref	Orphanet:98942	Coloboma of choroid and retina	semapv:ManualMappingCuration
MONDO:0020355	coloboma of eye lens	oboInOwl:hasDbXref	Orphanet:98943	Coloboma of eye lens	semapv:ManualMappingCuration
MONDO:0020356	coloboma of iris	oboInOwl:hasDbXref	Orphanet:98944	Coloboma of iris	semapv:ManualMappingCuration
MONDO:0020357	coloboma of eyelid	oboInOwl:hasDbXref	Orphanet:98946	Coloboma of eyelid	semapv:ManualMappingCuration
MONDO:0020359	congenital symblepharon	oboInOwl:hasDbXref	Orphanet:98948	Congenital symblepharon	semapv:ManualMappingCuration
MONDO:0020360	complete cryptophthalmia	oboInOwl:hasDbXref	Orphanet:98949	Complete cryptophthalmia	semapv:ManualMappingCuration
MONDO:0020361	partial cryptophthalmia	oboInOwl:hasDbXref	Orphanet:98950	Partial cryptophthalmia	semapv:ManualMappingCuration
MONDO:0020362	inverse Marcus-Gunn phenomenon	oboInOwl:hasDbXref	Orphanet:98951	Inverse Marcus-Gunn phenomenon	semapv:ManualMappingCuration
MONDO:0020363	honey-droplet corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98958	Climatic droplet keratopathy	semapv:ManualMappingCuration
MONDO:0020364	posterior polymorphous corneal dystrophy	oboInOwl:hasDbXref	Orphanet:98973	Posterior polymorphous corneal dystrophy	semapv:ManualMappingCuration
MONDO:0020365	congenital hereditary endothelial dystrophy type I	oboInOwl:hasDbXref	Orphanet:98975	Congenital hereditary endothelial dystrophy type I	semapv:ManualMappingCuration
MONDO:0020367	juvenile open angle glaucoma	oboInOwl:hasDbXref	Orphanet:98977	Juvenile glaucoma	semapv:ManualMappingCuration
MONDO:0020368	Axenfeld anomaly	oboInOwl:hasDbXref	Orphanet:98978	Axenfeld anomaly	semapv:ManualMappingCuration
MONDO:0020369	Chandler syndrome	oboInOwl:hasDbXref	Orphanet:98979	Chandler syndrome	semapv:ManualMappingCuration
MONDO:0020370	Cogan-Reese syndrome	oboInOwl:hasDbXref	Orphanet:98980	Cogan-Reese syndrome	semapv:ManualMappingCuration
MONDO:0020371	essential iris atrophy	oboInOwl:hasDbXref	Orphanet:98981	Essential iris atrophy	semapv:ManualMappingCuration
MONDO:0020372	early-onset sutural cataract	oboInOwl:hasDbXref	Orphanet:98985	Early-onset sutural cataract	semapv:ManualMappingCuration
MONDO:0020373	early-onset anterior polar cataract	oboInOwl:hasDbXref	Orphanet:98988	Early-onset anterior polar cataract	semapv:ManualMappingCuration
MONDO:0020374	cerulean cataract	oboInOwl:hasDbXref	Orphanet:98989	Cerulean cataract	semapv:ManualMappingCuration
MONDO:0020375	obsolete coralliform cataract	oboInOwl:hasDbXref	Orphanet:98990	Coralliform cataract	semapv:ManualMappingCuration
MONDO:0020376	early-onset nuclear cataract	oboInOwl:hasDbXref	Orphanet:98991	Early-onset nuclear cataract	semapv:ManualMappingCuration
MONDO:0020377	early-onset partial cataract	oboInOwl:hasDbXref	Orphanet:98992	Early-onset partial cataract	semapv:ManualMappingCuration
MONDO:0020378	early-onset posterior polar cataract	oboInOwl:hasDbXref	Orphanet:98993	Early-onset posterior polar cataract	semapv:ManualMappingCuration
MONDO:0020379	early-onset zonular cataract	oboInOwl:hasDbXref	Orphanet:98995	Early-onset zonular cataract	semapv:ManualMappingCuration
MONDO:0020380	autosomal dominant cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:99	Autosomal dominant cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0020382	multifocal pattern dystrophy simulating fundus flavimaculatus	oboInOwl:hasDbXref	Orphanet:99003	Multifocal pattern dystrophy simulating fundus flavimaculatus	semapv:ManualMappingCuration
MONDO:0020383	fundus pulverulentus	oboInOwl:hasDbXref	Orphanet:99004	Fundus pulverulentus	semapv:ManualMappingCuration
MONDO:0020384	Niemann-Pick disease type E	oboInOwl:hasDbXref	Orphanet:99022	OBSOLETE: Niemann-Pick disease type E	semapv:ManualMappingCuration
MONDO:0020385	congenitally uncorrected transposition of the great arteries with coarctation	oboInOwl:hasDbXref	Orphanet:99042	Congenitally uncorrected transposition of the great arteries with coarctation	semapv:ManualMappingCuration
MONDO:0020386	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	oboInOwl:hasDbXref	Orphanet:99043	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	semapv:ManualMappingCuration
MONDO:0020387	double outlet right ventricle with subpulmonary ventricular septal defect	oboInOwl:hasDbXref	Orphanet:99045	Double outlet right ventricle with subpulmonary ventricular septal defect	semapv:ManualMappingCuration
MONDO:0020388	double outlet right ventricle with non-committed subpulmonary ventricular septal defect	oboInOwl:hasDbXref	Orphanet:99046	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect	semapv:ManualMappingCuration
MONDO:0020389	pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome	oboInOwl:hasDbXref	Orphanet:99048	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	semapv:ManualMappingCuration
MONDO:0020390	pulmonary artery coming from patent ductus arteriosus	oboInOwl:hasDbXref	Orphanet:99049	Pulmonary artery coming from patent ductus arteriosus	semapv:ManualMappingCuration
MONDO:0020391	pulmonary artery coming from the aorta	oboInOwl:hasDbXref	Orphanet:99050	Abnormal origin of right or left pulmonary artery from the aorta	semapv:ManualMappingCuration
MONDO:0020392	obsolete discrete fixed membranous subaortic stenosis	oboInOwl:hasDbXref	Orphanet:99051	Discrete fixed membranous subaortic stenosis	semapv:ManualMappingCuration
MONDO:0020393	discrete fibromuscular subaortic stenosis	oboInOwl:hasDbXref	Orphanet:99052	Discrete fibromuscular subaortic stenosis	semapv:ManualMappingCuration
MONDO:0020394	tunnel subaortic stenosis	oboInOwl:hasDbXref	Orphanet:99053	Tunnel subaortic stenosis	semapv:ManualMappingCuration
MONDO:0020395	valvar pulmonary stenosis	oboInOwl:hasDbXref	Orphanet:99054	Valvular pulmonary stenosis	semapv:ManualMappingCuration
MONDO:0020396	anomaly of the tricuspid valve chordae	oboInOwl:hasDbXref	Orphanet:99055	Congenital anomaly of the tricuspid valve chordae	semapv:ManualMappingCuration
MONDO:0020397	parachute tricuspid valve	oboInOwl:hasDbXref	Orphanet:99056	Parachute tricuspid valve	semapv:ManualMappingCuration
MONDO:0020398	congenital mitral stenosis	oboInOwl:hasDbXref	Orphanet:99057	Congenital mitral stenosis	semapv:ManualMappingCuration
MONDO:0020399	congenital hypoplasia of the mitral valve annulus	oboInOwl:hasDbXref	Orphanet:99058	Hypoplasia of the mitral valve annulus	semapv:ManualMappingCuration
MONDO:0020400	congenital supravalvular mitral ring	oboInOwl:hasDbXref	Orphanet:99059	Congenital supravalvular mitral ring	semapv:ManualMappingCuration
MONDO:0020401	congenital unguarded mitral orifice	oboInOwl:hasDbXref	Orphanet:99060	Congenital unguarded mitral orifice	semapv:ManualMappingCuration
MONDO:0020402	congenital accessory mitral valve tissue	oboInOwl:hasDbXref	Orphanet:99061	Accessory mitral valve tissue	semapv:ManualMappingCuration
MONDO:0020403	congenital mitral valve agenesis	oboInOwl:hasDbXref	Orphanet:99062	Mitral valve agenesis	semapv:ManualMappingCuration
MONDO:0020404	shone complex	oboInOwl:hasDbXref	Orphanet:99063	Shone complex	semapv:ManualMappingCuration
MONDO:0020405	straddling and/or overriding mitral valve	oboInOwl:hasDbXref	Orphanet:99064	Straddling and/or overriding mitral valve	semapv:ManualMappingCuration
MONDO:0020406	complete atrioventricular canal-left heart obstruction syndrome	oboInOwl:hasDbXref	Orphanet:99066	OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome	semapv:ManualMappingCuration
MONDO:0020407	complete atrioventricular canal-ventricle hypoplasia syndrome	oboInOwl:hasDbXref	Orphanet:99067	Complete atrioventricular septal defect with ventricular hypoplasia	semapv:ManualMappingCuration
MONDO:0020408	complete atrioventricular canal-tetralogy of fallot syndrome	oboInOwl:hasDbXref	Orphanet:99068	Complete atrioventricular septal defect-tetralogy of Fallot	semapv:ManualMappingCuration
MONDO:0020409	univentricular heart with single atrio-ventricular valve	oboInOwl:hasDbXref	Orphanet:99069	OBSOLETE: Univentricular heart with single atrio-ventricular valve	semapv:ManualMappingCuration
MONDO:0020410	aorto-right ventricular tunnel	oboInOwl:hasDbXref	Orphanet:99070	Aorto-right ventricular tunnel	semapv:ManualMappingCuration
MONDO:0020411	aorto-left ventricular tunnel	oboInOwl:hasDbXref	Orphanet:99071	Aorto-left ventricular tunnel	semapv:ManualMappingCuration
MONDO:0020412	congenital patent ductus arteriosus aneurysm	oboInOwl:hasDbXref	Orphanet:99072	Congenital patent ductus arteriosus aneurysm	semapv:ManualMappingCuration
MONDO:0020413	encircling double aortic arch	oboInOwl:hasDbXref	Orphanet:99075	Encircling double aortic arch	semapv:ManualMappingCuration
MONDO:0020414	persistent fifth aortic arch	oboInOwl:hasDbXref	Orphanet:99076	Persistent fifth aortic arch	semapv:ManualMappingCuration
MONDO:0020415	Kommerell diverticulum	oboInOwl:hasDbXref	Orphanet:99077	Kommerell diverticulum	semapv:ManualMappingCuration
MONDO:0020416	Neuhauser anomaly	oboInOwl:hasDbXref	Orphanet:99078	Neuhauser anomaly	semapv:ManualMappingCuration
MONDO:0020417	right aortic arch	oboInOwl:hasDbXref	Orphanet:99081	Right aortic arch	semapv:ManualMappingCuration
MONDO:0020418	dysphagia lusoria	oboInOwl:hasDbXref	Orphanet:99082	Dysphagia lusoria	semapv:ManualMappingCuration
MONDO:0020419	pulmonary artery hypoplasia	oboInOwl:hasDbXref	Orphanet:99083	Pulmonary artery hypoplasia	semapv:ManualMappingCuration
MONDO:0020420	pulmonary branch stenosis	oboInOwl:hasDbXref	Orphanet:99084	Peripheral pulmonary stenosis	semapv:ManualMappingCuration
MONDO:0020421	coronary artery intramyocardial course	oboInOwl:hasDbXref	Orphanet:99085	OBSOLETE: Coronary artery intramyocardial course	semapv:ManualMappingCuration
MONDO:0020422	aortopulmonary coronary arterial course	oboInOwl:hasDbXref	Orphanet:99086	OBSOLETE: Aortopulmonary coronary arterial course	semapv:ManualMappingCuration
MONDO:0020423	stenosis or atrophy of the coronary ostium	oboInOwl:hasDbXref	Orphanet:99087	Coronary ostial stenosis or atresia	semapv:ManualMappingCuration
MONDO:0020424	intramural coronary arterial course	oboInOwl:hasDbXref	Orphanet:99088	OBSOLETE: Intramural coronary arterial course	semapv:ManualMappingCuration
MONDO:0020425	abnormal number of coronary ostia	oboInOwl:hasDbXref	Orphanet:99089	Abnormal number of coronary ostia	semapv:ManualMappingCuration
MONDO:0020426	malposition of the coronary ostium	oboInOwl:hasDbXref	Orphanet:99090	Malposition of a coronary ostium	semapv:ManualMappingCuration
MONDO:0020427	Laubry-Pezzi syndrome	oboInOwl:hasDbXref	Orphanet:99094	Laubry-Pezzi syndrome	semapv:ManualMappingCuration
MONDO:0020428	congenital Gerbode defect	oboInOwl:hasDbXref	Orphanet:99095	Congenital Gerbode defect	semapv:ManualMappingCuration
MONDO:0020429	cor triatriatum dexter	oboInOwl:hasDbXref	Orphanet:99098	Cor triatriatum dexter	semapv:ManualMappingCuration
MONDO:0020430	cor triatriatum sinister	oboInOwl:hasDbXref	Orphanet:99099	Cor triatriatum sinister	semapv:ManualMappingCuration
MONDO:0020431	juxtaposition of the atrial appendages	oboInOwl:hasDbXref	Orphanet:99100	Juxtaposition of the atrial appendages	semapv:ManualMappingCuration
MONDO:0020432	ectasia of the right atrial appendage	oboInOwl:hasDbXref	Orphanet:99101	Ectasia of the right atrial appendage	semapv:ManualMappingCuration
MONDO:0020433	ectasia of the left appendage	oboInOwl:hasDbXref	Orphanet:99102	Ectasia of the left atrial appendage	semapv:ManualMappingCuration
MONDO:0020434	atrial septal defect, ostium secundum type	oboInOwl:hasDbXref	Orphanet:99103	Atrial septal defect, ostium secundum type	semapv:ManualMappingCuration
MONDO:0020435	atrial septal defect, coronary sinus type	oboInOwl:hasDbXref	Orphanet:99104	Atrial septal defect, coronary sinus type	semapv:ManualMappingCuration
MONDO:0020436	atrial septal defect, sinus venosus type	oboInOwl:hasDbXref	Orphanet:99105	Atrial septal defect, sinus venosus type	semapv:ManualMappingCuration
MONDO:0020437	atrial septal defect, ostium primum type	oboInOwl:hasDbXref	Orphanet:99106	Atrial septal defect, ostium primum type	semapv:ManualMappingCuration
MONDO:0020438	atrial septal aneurysm	oboInOwl:hasDbXref	Orphanet:99107	Atrial septal aneurysm	semapv:ManualMappingCuration
MONDO:0020439	patent foramen ovale	oboInOwl:hasDbXref	Orphanet:99108	NON RARE IN EUROPE: Patent foramen ovale	semapv:ManualMappingCuration
MONDO:0020440	persistent left superior vena cava connecting to the left-sided atrium	oboInOwl:hasDbXref	Orphanet:99109	Persistent left superior vena cava connecting through coronary sinus to left-sided atrium	semapv:ManualMappingCuration
MONDO:0020441	right superior vena cava connecting to left-sided atrium	oboInOwl:hasDbXref	Orphanet:99110	Right superior vena cava connecting to left-sided atrium	semapv:ManualMappingCuration
MONDO:0020442	left superior vena cava persisting to left-sided atrium	oboInOwl:hasDbXref	Orphanet:99111	Persistent left superior vena cava connecting to the roof of left-sided atrium	semapv:ManualMappingCuration
MONDO:0020443	absence of innominate vein	oboInOwl:hasDbXref	Orphanet:99112	Absence of innominate vein	semapv:ManualMappingCuration
MONDO:0020444	subaortic course of innominate vein	oboInOwl:hasDbXref	Orphanet:99113	Subaortic course of innominate vein	semapv:ManualMappingCuration
MONDO:0020445	agenesis of the superior vena cava	oboInOwl:hasDbXref	Orphanet:99114	Agenesis of the superior vena cava	semapv:ManualMappingCuration
MONDO:0020446	coronary sinus stenosis	oboInOwl:hasDbXref	Orphanet:99117	Coronary sinus stenosis	semapv:ManualMappingCuration
MONDO:0020447	coronary sinus atresia	oboInOwl:hasDbXref	Orphanet:99118	Coronary sinus atresia	semapv:ManualMappingCuration
MONDO:0020448	right inferior vena cava connecting to left-sided atrium	oboInOwl:hasDbXref	Orphanet:99119	Right inferior vena cava connecting to left-sided atrium	semapv:ManualMappingCuration
MONDO:0020449	persistent eustachian valve	oboInOwl:hasDbXref	Orphanet:99120	Persistent eustachian valve	semapv:ManualMappingCuration
MONDO:0020450	azygos continuation of the inferior vena cava	oboInOwl:hasDbXref	Orphanet:99121	Azygos continuation of the inferior vena cava	semapv:ManualMappingCuration
MONDO:0020451	congenital stenosis of the inferior vena cava	oboInOwl:hasDbXref	Orphanet:99122	Congenital stenosis of the inferior vena cava	semapv:ManualMappingCuration
MONDO:0020452	inferior vena cava interruption	oboInOwl:hasDbXref	Orphanet:99123	Inferior vena cava interruption without azygos continuation	semapv:ManualMappingCuration
MONDO:0020453	congenital partial pulmonary venous return anomaly	oboInOwl:hasDbXref	Orphanet:99124	Congenital partial pulmonary venous return anomaly	semapv:ManualMappingCuration
MONDO:0020454	congenital complete agenesis of pericardium	oboInOwl:hasDbXref	Orphanet:99129	Congenital complete agenesis of pericardium	semapv:ManualMappingCuration
MONDO:0020455	congenital partial agenesis of pericardium	oboInOwl:hasDbXref	Orphanet:99130	Congenital partial agenesis of pericardium	semapv:ManualMappingCuration
MONDO:0020456	pleuro-pericardial cyst	oboInOwl:hasDbXref	Orphanet:99131	Pleuro-pericardial cyst	semapv:ManualMappingCuration
MONDO:0020457	6-phosphogluconate dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:99135	6-phosphogluconate dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0020458	hemolytic anemia due to erythrocyte adenosine deaminase overproduction	oboInOwl:hasDbXref	Orphanet:99138	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	semapv:ManualMappingCuration
MONDO:0020459	unstable hemoglobin disease	oboInOwl:hasDbXref	Orphanet:99139	Unstable hemoglobin disease	semapv:ManualMappingCuration
MONDO:0020460	acquired von willebrand syndrome	oboInOwl:hasDbXref	Orphanet:99147	Acquired von Willebrand syndrome	semapv:ManualMappingCuration
MONDO:0020461	epiblepharon	oboInOwl:hasDbXref	Orphanet:99169	Epiblepharon	semapv:ManualMappingCuration
MONDO:0020462	tarsal kink syndrome	oboInOwl:hasDbXref	Orphanet:99170	Tarsal kink syndrome	semapv:ManualMappingCuration
MONDO:0020463	isolated congenital ectropion	oboInOwl:hasDbXref	Orphanet:99171	Isolated congenital ectropion	semapv:ManualMappingCuration
MONDO:0020464	euryblepharon	oboInOwl:hasDbXref	Orphanet:99172	Euryblepharon	semapv:ManualMappingCuration
MONDO:0020465	congenital eyelid retraction	oboInOwl:hasDbXref	Orphanet:99176	Congenital eyelid retraction	semapv:ManualMappingCuration
MONDO:0020466	monosomy X	oboInOwl:hasDbXref	Orphanet:99226	Monosomy X syndrome	semapv:ManualMappingCuration
MONDO:0020467	mosaic monosomy X	oboInOwl:hasDbXref	Orphanet:99228	Mosaic monosomy X syndrome	semapv:ManualMappingCuration
MONDO:0020468	paternal uniparental disomy of chromosome 13	oboInOwl:hasDbXref	Orphanet:99324	Paternal uniparental disomy of chromosome 13 syndrome	semapv:ManualMappingCuration
MONDO:0020469	48,XYYY syndrome	oboInOwl:hasDbXref	Orphanet:99329	48,XYYY syndrome	semapv:ManualMappingCuration
MONDO:0020470	49,XYYYY syndrome	oboInOwl:hasDbXref	Orphanet:99330	49,XYYYY syndrome	semapv:ManualMappingCuration
MONDO:0020472	Turner syndrome due to structural X chromosome anomalies	oboInOwl:hasDbXref	Orphanet:99413	Turner syndrome due to structural X chromosome anomalies	semapv:ManualMappingCuration
MONDO:0020473	dappled diaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:99645	Dappled diaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0020474	cheirospondyloenchondromatosis	oboInOwl:hasDbXref	Orphanet:99647	Cheirospondyloenchondromatosis	semapv:ManualMappingCuration
MONDO:0020475	dermotrichic syndrome	oboInOwl:hasDbXref	Orphanet:99688	Dermotrichic syndrome	semapv:ManualMappingCuration
MONDO:0020476	mesial temporal lobe epilepsy with hippocampal sclerosis	oboInOwl:hasDbXref	Orphanet:99701	Mesial temporal lobe epilepsy with hippocampal sclerosis	semapv:ManualMappingCuration
MONDO:0020477	progeria-associated arthropathy	oboInOwl:hasDbXref	Orphanet:99706	OBSOLETE: Progeria-associated arthropathy	semapv:ManualMappingCuration
MONDO:0020478	Leber plus disease	oboInOwl:hasDbXref	Orphanet:99718	Leber plus disease	semapv:ManualMappingCuration
MONDO:0020479	pituitary gigantism	oboInOwl:hasDbXref	Orphanet:99725	Pituitary gigantism	semapv:ManualMappingCuration
MONDO:0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency	oboInOwl:hasDbXref	Orphanet:99732	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	semapv:ManualMappingCuration
MONDO:0020481	myotonia fluctuans	oboInOwl:hasDbXref	Orphanet:99734	Myotonia fluctuans	semapv:ManualMappingCuration
MONDO:0020482	myotonia permanens	oboInOwl:hasDbXref	Orphanet:99735	Myotonia permanens	semapv:ManualMappingCuration
MONDO:0020483	acetazolamide-responsive myotonia	oboInOwl:hasDbXref	Orphanet:99736	Acetazolamide-responsive myotonia	semapv:ManualMappingCuration
MONDO:0020484	obsolete rare familial disorder with hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:99739	Rare familial disorder with hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0020485	King-Denborough syndrome	oboInOwl:hasDbXref	Orphanet:99741	King-Denborough syndrome	semapv:ManualMappingCuration
MONDO:0020487	Pontiac fever	oboInOwl:hasDbXref	Orphanet:99748	Pontiac fever	semapv:ManualMappingCuration
MONDO:0020488	atypical progressive supranuclear palsy syndrome	oboInOwl:hasDbXref	Orphanet:99750	Atypical progressive supranuclear palsy syndrome	semapv:ManualMappingCuration
MONDO:0020489	obsolete familial hyperreninemic hypoaldosteronism type 1	oboInOwl:hasDbXref	Orphanet:99763	OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1	semapv:ManualMappingCuration
MONDO:0020490	mosaic trisomy 9	oboInOwl:hasDbXref	Orphanet:99776	Mosaic trisomy 9 syndrome	semapv:ManualMappingCuration
MONDO:0020491	subcortical band heterotopia	oboInOwl:hasDbXref	Orphanet:99796	Subcortical band heterotopia	semapv:ManualMappingCuration
MONDO:0020492	hemimegalencephaly	oboInOwl:hasDbXref	Orphanet:99802	Hemimegalencephaly	semapv:ManualMappingCuration
MONDO:0020493	Haddad syndrome	oboInOwl:hasDbXref	Orphanet:99803	Haddad syndrome	semapv:ManualMappingCuration
MONDO:0020494	oculootodental syndrome	oboInOwl:hasDbXref	Orphanet:99806	Oculootodental syndrome	semapv:ManualMappingCuration
MONDO:0020495	PEHO-like syndrome	oboInOwl:hasDbXref	Orphanet:99807	PEHO-like syndrome	semapv:ManualMappingCuration
MONDO:0020496	familial porencephaly	oboInOwl:hasDbXref	Orphanet:99810	Familial porencephaly	semapv:ManualMappingCuration
MONDO:0020497	Turcot syndrome with polyposis	oboInOwl:hasDbXref	Orphanet:99818	Turcot syndrome with polyposis	semapv:ManualMappingCuration
MONDO:0020499	Nipah virus disease	oboInOwl:hasDbXref	Orphanet:99825	Nipah virus disease	semapv:ManualMappingCuration
MONDO:0020500	Marburg hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:99826	Marburg hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0020501	Crimean-Congo hemorrhagic fever	oboInOwl:hasDbXref	Orphanet:99827	Crimean-Congo hemorrhagic fever	semapv:ManualMappingCuration
MONDO:0020502	yellow fever	oboInOwl:hasDbXref	Orphanet:99829	Yellow fever	semapv:ManualMappingCuration
MONDO:0020504	hereditary recurrent myoglobinuria	oboInOwl:hasDbXref	Orphanet:99845	Genetic recurrent myoglobinuria	semapv:ManualMappingCuration
MONDO:0020505	ravine syndrome	oboInOwl:hasDbXref	Orphanet:99852	Ravine syndrome	semapv:ManualMappingCuration
MONDO:0020506	obsolete ovarioleukodystrophy	oboInOwl:hasDbXref	Orphanet:99853	Ovarioleukodystrophy	semapv:ManualMappingCuration
MONDO:0020507	leukoencephalopathy with vanishing white matter 1	oboInOwl:hasDbXref	Orphanet:99854	Cree leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0020508	primary syringomyelia	oboInOwl:hasDbXref	Orphanet:99856	Primary syringomyelia	semapv:ManualMappingCuration
MONDO:0020509	secondary syringomyelia	oboInOwl:hasDbXref	Orphanet:99857	Secondary syringomyelia	semapv:ManualMappingCuration
MONDO:0020510	idiopathic syringomyelia	oboInOwl:hasDbXref	Orphanet:99858	Idiopathic syringomyelia	semapv:ManualMappingCuration
MONDO:0020511	precursor B-cell acute lymphoblastic leukemia	oboInOwl:hasDbXref	Orphanet:99860	Precursor B-cell acute lymphoblastic leukemia	semapv:ManualMappingCuration
MONDO:0020512	precursor T-cell acute lymphoblastic leukemia	oboInOwl:hasDbXref	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia	semapv:ManualMappingCuration
MONDO:0020513	spermatocytic seminoma	oboInOwl:hasDbXref	Orphanet:99865	Spermatocytic seminoma	semapv:ManualMappingCuration
MONDO:0020516	thymic neuroendocrine carcinoma	oboInOwl:hasDbXref	Orphanet:99869	Thymic neuroendocrine carcinoma	semapv:ManualMappingCuration
MONDO:0020517	eosinophilic granuloma	oboInOwl:hasDbXref	Orphanet:99871	OBSOLETE: Eosinophilic granuloma	semapv:ManualMappingCuration
MONDO:0020518	Hashimoto-Pritzker syndrome	oboInOwl:hasDbXref	Orphanet:99872	OBSOLETE: Hashimoto-Pritzker syndrome	semapv:ManualMappingCuration
MONDO:0020519	hand-Schuller-Christian disease	oboInOwl:hasDbXref	Orphanet:99873	OBSOLETE: Hand-Schüller-Christian disease	semapv:ManualMappingCuration
MONDO:0020520	adult pulmonary Langerhans cell histiocytosis	oboInOwl:hasDbXref	Orphanet:99874	OBSOLETE: Adult pulmonary Langerhans cell histiocytosis	semapv:ManualMappingCuration
MONDO:0020521	Ehlers-Danlos syndrome type 7A	oboInOwl:hasDbXref	Orphanet:99875	OBSOLETE: Ehlers-Danlos syndrome type 7A	semapv:ManualMappingCuration
MONDO:0020522	Ehlers-Danlos syndrome type 7B	oboInOwl:hasDbXref	Orphanet:99876	OBSOLETE: Ehlers-Danlos syndrome type 7B	semapv:ManualMappingCuration
MONDO:0020523	familial parathyroid adenoma	oboInOwl:hasDbXref	Orphanet:99877	OBSOLETE: Familial parathyroid adenoma	semapv:ManualMappingCuration
MONDO:0020524	obsolete primary parathyroid hyperplasia	oboInOwl:hasDbXref	Orphanet:99878	OBSOLETE: Primary parathyroid hyperplasia	semapv:ManualMappingCuration
MONDO:0020526	acute megakaryoblastic leukemia in down syndrome	oboInOwl:hasDbXref	Orphanet:99887	Acute megakaryoblastic leukemia in children with Down syndrome	semapv:ManualMappingCuration
MONDO:0020527	ectopic Cushing syndrome	oboInOwl:hasDbXref	Orphanet:99889	Cushing syndrome due to ectopic ACTH secretion	semapv:ManualMappingCuration
MONDO:0020528	ACTH-dependent Cushing syndrome	oboInOwl:hasDbXref	Orphanet:99892	ACTH-dependent Cushing syndrome	semapv:ManualMappingCuration
MONDO:0020529	ACTH-independent Cushing syndrome	oboInOwl:hasDbXref	Orphanet:647758	Adrenal Cushing syndrome	semapv:ManualMappingCuration
MONDO:0020529	ACTH-independent Cushing syndrome	oboInOwl:hasDbXref	Orphanet:99893	OBSOLETE: ACTH-independent Cushing syndrome	semapv:ManualMappingCuration
MONDO:0020530	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	oboInOwl:hasDbXref	Orphanet:99898	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	semapv:ManualMappingCuration
MONDO:0020531	long chain acyl-CoA dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:99900	Long chain acyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0020532	spirillary rat-bite fever	oboInOwl:hasDbXref	Orphanet:99903	Spirillary rat-bite fever	semapv:ManualMappingCuration
MONDO:0020533	streptobacillary rat-bite fever	oboInOwl:hasDbXref	Orphanet:99905	Streptobacillary rat-bite fever	semapv:ManualMappingCuration
MONDO:0020535	house allergic alveolitis	oboInOwl:hasDbXref	Orphanet:99907	OBSOLETE: House allergic alveolitis	semapv:ManualMappingCuration
MONDO:0020537	obsolete occupational allergic alveolitis	oboInOwl:hasDbXref	Orphanet:99909	OBSOLETE: Occupational allergic alveolitis	semapv:ManualMappingCuration
MONDO:0020538	malignant dysgerminomatous germ cell tumor of ovary	oboInOwl:hasDbXref	Orphanet:99912	Ovarian dysgerminoma	semapv:ManualMappingCuration
MONDO:0020539	extragonadal non-dysgerminomatous germ cell tumor	oboInOwl:hasDbXref	Orphanet:99913	Extragonadal non-dysgerminomatous germ cell tumor	semapv:ManualMappingCuration
MONDO:0020540	ovarian gynandroblastoma	oboInOwl:hasDbXref	Orphanet:99914	Gynandroblastoma	semapv:ManualMappingCuration
MONDO:0020541	maligant granulosa cell tumor of ovary	oboInOwl:hasDbXref	Orphanet:99915	Malignant granulosa cell tumor of the ovary	semapv:ManualMappingCuration
MONDO:0020542	malignant Sertoli-Leydig cell tumor of ovary	oboInOwl:hasDbXref	Orphanet:99916	Malignant Sertoli-Leydig cell tumor of the ovary	semapv:ManualMappingCuration
MONDO:0020543	theca steroid-producing cell malignant tumor of ovary, not further specified	oboInOwl:hasDbXref	Orphanet:99917	Theca steroid-producing cell malignant tumor of ovary, not further specified	semapv:ManualMappingCuration
MONDO:0020544	streptococcal toxic-shock syndrome	oboInOwl:hasDbXref	Orphanet:99918	Streptococcal toxic-shock syndrome	semapv:ManualMappingCuration
MONDO:0020545	staphylococcal toxic-shock syndrome	oboInOwl:hasDbXref	Orphanet:99919	Staphylococcal toxic-shock syndrome	semapv:ManualMappingCuration
MONDO:0020546	acute graft versus host disease	oboInOwl:hasDbXref	Orphanet:99920	Acute graft versus host disease	semapv:ManualMappingCuration
MONDO:0020547	chronic graft versus host disease	oboInOwl:hasDbXref	Orphanet:99921	Chronic graft versus host disease	semapv:ManualMappingCuration
MONDO:0020549	invasive hydatidiform mole	oboInOwl:hasDbXref	Orphanet:99925	Invasive mole	semapv:ManualMappingCuration
MONDO:0020550	gestational choriocarcinoma	oboInOwl:hasDbXref	Orphanet:99926	Gestational choriocarcinoma	semapv:ManualMappingCuration
MONDO:0020552	placental site trophoblastic tumor	oboInOwl:hasDbXref	Orphanet:99928	Placental site trophoblastic tumor	semapv:ManualMappingCuration
MONDO:0020553	secondary pulmonary hemosiderosis	oboInOwl:hasDbXref	Orphanet:99930	Secondary pulmonary hemosiderosis	semapv:ManualMappingCuration
MONDO:0020554	Heiner syndrome	oboInOwl:hasDbXref	Orphanet:99932	Heiner syndrome	semapv:ManualMappingCuration
MONDO:0020555	pleuropulmonary blastoma type 1	oboInOwl:hasDbXref	Orphanet:99933	Pleuropulmonary blastoma type 1	semapv:ManualMappingCuration
MONDO:0020556	pleuropulmonary blastoma type 2	oboInOwl:hasDbXref	Orphanet:99934	Pleuropulmonary blastoma type 2	semapv:ManualMappingCuration
MONDO:0020557	pleuropulmonary blastoma type 3	oboInOwl:hasDbXref	Orphanet:99935	Pleuropulmonary blastoma type 3	semapv:ManualMappingCuration
MONDO:0020558	autosomal dominant Charcot-Marie-Tooth disease type 2K	oboInOwl:hasDbXref	Orphanet:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	semapv:ManualMappingCuration
MONDO:0020559	O'Sullivan-McLeod syndrome	oboInOwl:hasDbXref	Orphanet:99965	O'Sullivan-McLeod syndrome	semapv:ManualMappingCuration
MONDO:0020560	atypical teratoid rhabdoid tumor	oboInOwl:hasDbXref	Orphanet:99966	Atypical teratoid rhabdoid tumor	semapv:ManualMappingCuration
MONDO:0020561	myxoid/round cell liposarcoma	oboInOwl:hasDbXref	Orphanet:99967	Myxoid/round cell liposarcoma	semapv:ManualMappingCuration
MONDO:0020562	pleomorphic liposarcoma	oboInOwl:hasDbXref	Orphanet:99969	Pleomorphic liposarcoma	semapv:ManualMappingCuration
MONDO:0020563	dedifferentiated liposarcoma	oboInOwl:hasDbXref	Orphanet:99970	Dedifferentiated liposarcoma	semapv:ManualMappingCuration
MONDO:0020567	apnea of prematurity	oboInOwl:hasDbXref	Orphanet:99981	Apnea of prematurity	semapv:ManualMappingCuration
MONDO:0020568	cutaneous myiasis	oboInOwl:hasDbXref	Orphanet:99983	Cutaneous myiasis	semapv:ManualMappingCuration
MONDO:0020569	intermediate DEND syndrome	oboInOwl:hasDbXref	Orphanet:99989	Intermediate DEND syndrome	semapv:ManualMappingCuration
MONDO:0020571	relapsing epidemic typhus	oboInOwl:hasDbXref	Orphanet:99991	Relapsing epidemic typhus	semapv:ManualMappingCuration
MONDO:0020572	complex regional pain syndrome type 2	oboInOwl:hasDbXref	Orphanet:99994	Complex regional pain syndrome type 2	semapv:ManualMappingCuration
MONDO:0020603	X-linked chondrodysplasia punctata 2	oboInOwl:hasDbXref	Orphanet:35173	X-linked dominant chondrodysplasia punctata	semapv:ManualMappingCuration
MONDO:0020640	autoimmune encephalitis	oboInOwl:hasDbXref	Orphanet:622014	Autoimmune encephalitis	semapv:ManualMappingCuration
MONDO:0020654	renal pelvis/ureter urothelial carcinoma	oboInOwl:hasDbXref	Orphanet:598216	Upper tract urothelial carcinoma	semapv:ManualMappingCuration
MONDO:0020667	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	oboInOwl:hasDbXref	Orphanet:596008	Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis	semapv:ManualMappingCuration
MONDO:0020693	glycogen storage disease due to liver phosphorylase kinase deficiency	oboInOwl:hasDbXref	Orphanet:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	semapv:ManualMappingCuration
MONDO:0020702	autosomal dominant epidermolytic ichthyosis	oboInOwl:hasDbXref	Orphanet:312	Autosomal dominant epidermolytic ichthyosis	semapv:ManualMappingCuration
MONDO:0020721	X-linked sideroblastic anemia 1	oboInOwl:hasDbXref	Orphanet:75563	X-linked sideroblastic anemia	semapv:ManualMappingCuration
MONDO:0020726	tubulointerstitial kidney disease, autosomal dominant, 2	oboInOwl:hasDbXref	Orphanet:88949	MUC1-related autosomal dominant tubulointerstitial kidney disease	semapv:ManualMappingCuration
MONDO:0020742	obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome	oboInOwl:hasDbXref	Orphanet:1317	CAMFAK syndrome	semapv:ManualMappingCuration
MONDO:0020743	mixed phenotype acute leukemia	oboInOwl:hasDbXref	Orphanet:530995	Mixed phenotype acute leukemia	semapv:ManualMappingCuration
MONDO:0020774	Menke-Hennekam syndrome	oboInOwl:hasDbXref	Orphanet:592574	Menke-Hennekam syndrome	semapv:ManualMappingCuration
MONDO:0020781	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	oboInOwl:hasDbXref	Orphanet:555407	NAD(P)HX epimerase deficiency	semapv:ManualMappingCuration
MONDO:0020783	capillary malformation-arteriovenous malformation 1	oboInOwl:hasDbXref	Orphanet:90307	Parkes Weber syndrome	semapv:ManualMappingCuration
MONDO:0020831	congenital vertebral-cardiac-renal anomalies syndrome	oboInOwl:hasDbXref	Orphanet:521438	Congenital vertebral-cardiac-renal anomalies syndrome	semapv:ManualMappingCuration
MONDO:0020871	obsolete name syndrome	oboInOwl:hasDbXref	Orphanet:623	NAME syndrome	semapv:ManualMappingCuration
MONDO:0020999	obsolete genetic chronic primary adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:101960	Genetic chronic primary adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0021001	hemochromatosis type 1	oboInOwl:hasDbXref	Orphanet:139498	NON RARE IN EUROPE: Hemochromatosis type 1	semapv:ManualMappingCuration
MONDO:0021005	faciodigitogenital syndrome	oboInOwl:hasDbXref	Orphanet:915	Aarskog-Scott syndrome	semapv:ManualMappingCuration
MONDO:0021013	trichothiodystrophy 4, nonphotosensitive	oboInOwl:hasDbXref	Orphanet:75790	Pollitt syndrome	semapv:ManualMappingCuration
MONDO:0021018	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	oboInOwl:hasDbXref	Orphanet:34516	DNAJB6-related limb-girdle muscular dystrophy D1	semapv:ManualMappingCuration
MONDO:0021019	X-linked recessive ocular albinism	oboInOwl:hasDbXref	Orphanet:54	X-linked recessive ocular albinism	semapv:ManualMappingCuration
MONDO:0021020	Crigler-Najjar syndrome type 1	oboInOwl:hasDbXref	Orphanet:79234	Crigler-Najjar syndrome type 1	semapv:ManualMappingCuration
MONDO:0021022	hereditary hyperekplexia	oboInOwl:hasDbXref	Orphanet:3197	Hereditary hyperekplexia	semapv:ManualMappingCuration
MONDO:0021023	complete androgen insensitivity syndrome	oboInOwl:hasDbXref	Orphanet:99429	Complete androgen insensitivity syndrome	semapv:ManualMappingCuration
MONDO:0021026	hereditary epidermal appendage anomaly	oboInOwl:hasDbXref	Orphanet:183447	Genetic epidermal appendage anomaly	semapv:ManualMappingCuration
MONDO:0021027	obsolete genetic hair anomaly	oboInOwl:hasDbXref	Orphanet:183450	Genetic hair anomaly	semapv:ManualMappingCuration
MONDO:0021028	obsolete genetic nail anomaly	oboInOwl:hasDbXref	Orphanet:183454	Genetic nail anomaly	semapv:ManualMappingCuration
MONDO:0021029	hereditary sebaceous gland anomaly	oboInOwl:hasDbXref	Orphanet:183460	Genetic sebaceous gland anomaly	semapv:ManualMappingCuration
MONDO:0021034	obsolete hereditary alopecia	oboInOwl:hasDbXref	Orphanet:481771	Genetic alopecia	semapv:ManualMappingCuration
MONDO:0021037	obsolete genetic neurodegenerative disease with dementia	oboInOwl:hasDbXref	Orphanet:276058	Genetic neurodegenerative disease with dementia	semapv:ManualMappingCuration
MONDO:0021042	glioma	oboInOwl:hasDbXref	Orphanet:182067	Glial tumor	semapv:ManualMappingCuration
MONDO:0021054	bone sarcoma	oboInOwl:hasDbXref	Orphanet:223727	Bone sarcoma	semapv:ManualMappingCuration
MONDO:0021055	classic familial adenomatous polyposis	oboInOwl:hasDbXref	Orphanet:733	Familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0021060	RASopathy	oboInOwl:hasDbXref	Orphanet:536391	RASopathy	semapv:ManualMappingCuration
MONDO:0021062	obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary	oboInOwl:hasDbXref	Orphanet:306539	OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary	semapv:ManualMappingCuration
MONDO:0021081	anti-NMDA receptor encephalitis	oboInOwl:hasDbXref	Orphanet:217253	NMDA receptor encephalitis	semapv:ManualMappingCuration
MONDO:0021102	prostate phyllodes tumor	oboInOwl:hasDbXref	Orphanet:498228	Phyllodes tumor of the prostate	semapv:ManualMappingCuration
MONDO:0021106	laminopathy	oboInOwl:hasDbXref	Orphanet:98301	Laminopathy	semapv:ManualMappingCuration
MONDO:0021107	narcolepsy	oboInOwl:hasDbXref	Orphanet:619284	Narcolepsy	semapv:ManualMappingCuration
MONDO:0021133	acquired factor XIII deficiency	oboInOwl:hasDbXref	Orphanet:599513	Acquired factor XIII deficiency	semapv:ManualMappingCuration
MONDO:0021134	acquired factor X deficiency	oboInOwl:hasDbXref	Orphanet:599501	Acquired factor X deficiency	semapv:ManualMappingCuration
MONDO:0021141	acquired	oboInOwl:hasDbXref	Orphanet:409941	not genetically inherited	semapv:ManualMappingCuration
MONDO:0021154	dermis disorder	oboInOwl:hasDbXref	Orphanet:79381	Other dermis disorder	semapv:ManualMappingCuration
MONDO:0021169	epithelioid hemangioma	oboInOwl:hasDbXref	Orphanet:675396	Epithelioid hemangioma	semapv:ManualMappingCuration
MONDO:0021172	Timothy syndrome, atypical type	oboInOwl:hasDbXref	Orphanet:595109	Atypical Timothy syndrome	semapv:ManualMappingCuration
MONDO:0021176	autoimmune hepatitis type 2	oboInOwl:hasDbXref	Orphanet:563581	Autoimmune hepatitis type 2	semapv:ManualMappingCuration
MONDO:0021181	inherited blood coagulation disorder	oboInOwl:hasDbXref	Orphanet:183654	Rare genetic coagulation disorder	semapv:ManualMappingCuration
MONDO:0021198	obsolete rare genetic disease	oboInOwl:hasDbXref	Orphanet:98053	Rare genetic disease	semapv:ManualMappingCuration
MONDO:0021227	adrenal gland neoplasm	oboInOwl:hasDbXref	Orphanet:100091	Adrenal/paraganglial tumor	semapv:ManualMappingCuration
MONDO:0021228	brainstem neoplasm	oboInOwl:hasDbXref	Orphanet:36414	OBSOLETE: Brain stem tumor	semapv:ManualMappingCuration
MONDO:0021272	inherited orthostatic hypotension	oboInOwl:hasDbXref	Orphanet:448426	Genetic primary orthostatic hypotension	semapv:ManualMappingCuration
MONDO:0021313	eyelid cancer	oboInOwl:hasDbXref	Orphanet:98584	OBSOLETE: Malignant tumor of palpebral epidermis	semapv:ManualMappingCuration
MONDO:0021427	squamous cell carcinoma of lip	oboInOwl:hasDbXref	Orphanet:502366	Squamous cell carcinoma of the lip	semapv:ManualMappingCuration
MONDO:0021548	total early-onset cataract	oboInOwl:hasDbXref	Orphanet:98994	Total early-onset cataract	semapv:ManualMappingCuration
MONDO:0021569	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	oboInOwl:hasDbXref	Orphanet:264	Autosomal dominant limb-girdle muscular dystrophy type 1B	semapv:ManualMappingCuration
MONDO:0021588	eyelid sebaceous gland carcinoma	oboInOwl:hasDbXref	Orphanet:658590	Eyelid sebaceous carcinoma	semapv:ManualMappingCuration
MONDO:0021636	astrocytic tumor	oboInOwl:hasDbXref	Orphanet:94	Astrocytoma	semapv:ManualMappingCuration
MONDO:0021651	synpolydactyly	oboInOwl:hasDbXref	Orphanet:93403	Syndactyly type 2	semapv:ManualMappingCuration
MONDO:0021660	deep seated dermatophytosis	oboInOwl:hasDbXref	Orphanet:397587	Deep dermatophytosis	semapv:ManualMappingCuration
MONDO:0021690	obsolete congenital left ventricular aneurysm	oboInOwl:hasDbXref	Orphanet:1055	Congenital left ventricular aneurysm	semapv:ManualMappingCuration
MONDO:0022173	chromosome 11q trisomy	oboInOwl:hasDbXref	Orphanet:262923	Partial duplication of the long arm of chromosome 11 syndrome	semapv:ManualMappingCuration
MONDO:0022174	chromosome 12p deletion	oboInOwl:hasDbXref	Orphanet:316244	Partial deletion of the short arm of chromosome 12 syndrome	semapv:ManualMappingCuration
MONDO:0022177	chromosome 13q trisomy	oboInOwl:hasDbXref	Orphanet:262932	Partial duplication of the long arm of chromosome 13 syndrome	semapv:ManualMappingCuration
MONDO:0022316	hair defect with photosensitivity and intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:1408	Hair defect-photosensitivity-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0022397	obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	oboInOwl:hasDbXref	Orphanet:156168	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	semapv:ManualMappingCuration
MONDO:0022399	obsolete retinal ciliopathy due to mutation in the RPGR gene	oboInOwl:hasDbXref	Orphanet:156171	Retinal ciliopathy due to mutation in the RPGR gene	semapv:ManualMappingCuration
MONDO:0022400	obsolete retinal ciliopathy due to mutation in the RPGRIP gene	oboInOwl:hasDbXref	Orphanet:156174	Retinal ciliopathy due to mutation in the RPGRIP gene	semapv:ManualMappingCuration
MONDO:0022404	obsolete retinal ciliopathy due to mutation in Usher gene	oboInOwl:hasDbXref	Orphanet:156177	Retinal ciliopathy due to mutation in Usher gene	semapv:ManualMappingCuration
MONDO:0022405	obsolete retinal ciliopathy due to mutation in nephronophthisis gene	oboInOwl:hasDbXref	Orphanet:156180	Retinal ciliopathy due to mutation in nephronophthisis gene	semapv:ManualMappingCuration
MONDO:0022407	obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene	oboInOwl:hasDbXref	Orphanet:156183	Retinal ciliopathy due to mutation in Bardet-Biedl gene	semapv:ManualMappingCuration
MONDO:0022409	obsolete nephropathy-associated ciliopathy	oboInOwl:hasDbXref	Orphanet:156162	Renal ciliopathy	semapv:ManualMappingCuration
MONDO:0022410	retinal ciliopathy	oboInOwl:hasDbXref	Orphanet:156165	Retinal ciliopathy	semapv:ManualMappingCuration
MONDO:0022414	obsolete allain-babin-demarquez syndrome	oboInOwl:hasDbXref	Orphanet:1526	OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome	semapv:ManualMappingCuration
MONDO:0022513	atrophoderma of Pierini and Pasini	oboInOwl:hasDbXref	Orphanet:658810	Atrophoderma of Pasini and Pierini	semapv:ManualMappingCuration
MONDO:0022737	choroideremia hypopituitarism	oboInOwl:hasDbXref	Orphanet:1434	OBSOLETE: Choroideremia-hypopituitarism syndrome	semapv:ManualMappingCuration
MONDO:0022754	chromosome 17p deletion	oboInOwl:hasDbXref	Orphanet:261965	Partial deletion of the short arm of chromosome 17 syndrome	semapv:ManualMappingCuration
MONDO:0022756	chromosome 1q deletion	oboInOwl:hasDbXref	Orphanet:262001	Partial deletion of the long arm of chromosome 1 syndrome	semapv:ManualMappingCuration
MONDO:0022760	chromosome 22q deletion	oboInOwl:hasDbXref	Orphanet:262182	Partial deletion of the long arm of chromosome 22 syndrome	semapv:ManualMappingCuration
MONDO:0022762	chromosome 4 short arm deletion	oboInOwl:hasDbXref	Orphanet:261884	Partial deletion of the short arm of chromosome 4 syndrome	semapv:ManualMappingCuration
MONDO:0022800	type 2 collagenopathy	oboInOwl:hasDbXref	Orphanet:93421	Type 2 collagen-related bone disorder	semapv:ManualMappingCuration
MONDO:0022825	congenital cystic eye	oboInOwl:hasDbXref	Orphanet:519384	Congenital cystic eye	semapv:ManualMappingCuration
MONDO:0022851	Dennis-Fairhurst-Moore syndrome	oboInOwl:hasDbXref	Orphanet:2109	Hallermann-Streiff-like syndrome	semapv:ManualMappingCuration
MONDO:0022921	obsolete short stature-microcephaly-heart defect syndrome	oboInOwl:hasDbXref	Orphanet:2861	OBSOLETE: Short stature-microcephaly-heart defect syndrome	semapv:ManualMappingCuration
MONDO:0022932	Davenport-Donlan syndrome	oboInOwl:hasDbXref	Orphanet:3215	OBSOLETE: Deafness-white hair-contractures-papillomas syndrome	semapv:ManualMappingCuration
MONDO:0022986	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	oboInOwl:hasDbXref	Orphanet:617916	Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	semapv:ManualMappingCuration
MONDO:0023072	obsolete envenomization by Bothrops lanceolatus	oboInOwl:hasDbXref	Orphanet:1939	OBSOLETE: Envenomization by Bothrops lanceolatus	semapv:ManualMappingCuration
MONDO:0023171	foix chavany Marie syndrome	oboInOwl:hasDbXref	Orphanet:2048	Foix-Chavany-Marie syndrome	semapv:ManualMappingCuration
MONDO:0023188	Freiberg disease	oboInOwl:hasDbXref	Orphanet:564003	Osteochondrosis of the metatarsal bone	semapv:ManualMappingCuration
MONDO:0023201	Fryns Smeets Thiry syndrome	oboInOwl:hasDbXref	Orphanet:2058	Fryns-Smeets-Thiry syndrome	semapv:ManualMappingCuration
MONDO:0023204	Fukuda-Miyanomae-Nakata syndrome	oboInOwl:hasDbXref	Orphanet:2060	Fukuda-Miyanomae-Nakata syndrome	semapv:ManualMappingCuration
MONDO:0023206	functional pancreatic neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:506060	Functioning neuroendocrine tumor of pancreas	semapv:ManualMappingCuration
MONDO:0023243	glass-chapman-hockley syndrome	oboInOwl:hasDbXref	Orphanet:1535	Craniosynostosis-dysmorphism-brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0023275	Graham-Boyle-Troxell syndrome	oboInOwl:hasDbXref	Orphanet:2111	Cystic hamartoma of lung and kidney	semapv:ManualMappingCuration
MONDO:0023540	Kashani-Strom-Utley syndrome	oboInOwl:hasDbXref	Orphanet:1137	OBSOLETE: Pulmonary aortic stenosis obstructive uropathy	semapv:ManualMappingCuration
MONDO:0023865	corneal infection	oboInOwl:hasDbXref	Orphanet:519278	Infective keratitis	semapv:ManualMappingCuration
MONDO:0024145	obsolete Pierre Robin syndrome associated with collagen disease	oboInOwl:hasDbXref	Orphanet:138041	Pierre Robin syndrome associated with collagen disease	semapv:ManualMappingCuration
MONDO:0024147	obsolete Pierre Robin syndrome associated with a chromosomal anomaly	oboInOwl:hasDbXref	Orphanet:138047	Pierre Robin syndrome associated with a chromosomal anomaly	semapv:ManualMappingCuration
MONDO:0024148	obsolete Pierre Robin syndrome associated with branchial archs anomalies	oboInOwl:hasDbXref	Orphanet:138050	Pierre Robin syndrome associated with branchial archs anomalies	semapv:ManualMappingCuration
MONDO:0024149	obsolete Pierre Robin syndrome associated with bone disease	oboInOwl:hasDbXref	Orphanet:138055	Pierre Robin syndrome associated with bone disease	semapv:ManualMappingCuration
MONDO:0024237	inherited neurodegenerative disorder	oboInOwl:hasDbXref	Orphanet:183500	Genetic neurodegenerative disease	semapv:ManualMappingCuration
MONDO:0024257	hereditary motor neuron disease	oboInOwl:hasDbXref	Orphanet:98505	Genetic motor neuron disease	semapv:ManualMappingCuration
MONDO:0024326	pleural adenomatoid tumor	oboInOwl:hasDbXref	Orphanet:675814	Adenomatoid tumour of the pleura	semapv:ManualMappingCuration
MONDO:0024336	vulvar adenocarcinoma	oboInOwl:hasDbXref	Orphanet:494454	Vulvar adenocarcinoma	semapv:ManualMappingCuration
MONDO:0024418	muscular fibrosis multifocal obstructed vessels	oboInOwl:hasDbXref	Orphanet:2033	OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome	semapv:ManualMappingCuration
MONDO:0024457	neurodegeneration with brain iron accumulation 2A	oboInOwl:hasDbXref	Orphanet:35069	Infantile neuroaxonal dystrophy	semapv:ManualMappingCuration
MONDO:0024471	obsolete non-inflammatory vasculopathy	oboInOwl:hasDbXref	Orphanet:496924	Non-inflammatory vasculopathy	semapv:ManualMappingCuration
MONDO:0024472	boutonneuse fever	oboInOwl:hasDbXref	Orphanet:101334	African tick typhus	semapv:ManualMappingCuration
MONDO:0024472	boutonneuse fever	oboInOwl:hasDbXref	Orphanet:83313	Boutonneuse fever	semapv:ManualMappingCuration
MONDO:0024503	digestive system neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:100092	Gastroenteropancreatic neuroendocrine neoplasm	semapv:ManualMappingCuration
MONDO:0024504	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:506090	Serotonin-producing neuroendocrine tumor of pancreas	semapv:ManualMappingCuration
MONDO:0024537	Brown-Vialetto-van Laere syndrome 1	oboInOwl:hasDbXref	Orphanet:572543	RFVT2-related riboflavin transporter deficiency	semapv:ManualMappingCuration
MONDO:0024548	peeling skin syndrome 1	oboInOwl:hasDbXref	Orphanet:263553	Peeling skin syndrome type B	semapv:ManualMappingCuration
MONDO:0024551	X-linked lymphoproliferative disease due to SH2D1A deficiency	oboInOwl:hasDbXref	Orphanet:538931	X-linked lymphoproliferative disease due to SAP deficiency	semapv:ManualMappingCuration
MONDO:0024557	ataxia-telangiectasia-like disorder 1	oboInOwl:hasDbXref	Orphanet:251347	Ataxia-telangiectasia-like disorder	semapv:ManualMappingCuration
MONDO:0024559	aortic aneurysm, familial thoracic 1	oboInOwl:hasDbXref	Orphanet:229	Familial aortic dissection	semapv:ManualMappingCuration
MONDO:0024568	infantile liver failure syndrome 1	oboInOwl:hasDbXref	Orphanet:370088	Acute infantile liver failure-multisystemic involvement syndrome	semapv:ManualMappingCuration
MONDO:0024573	familial hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:155	NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0024607	congenital muscular dystrophy with cataracts and intellectual disability	oboInOwl:hasDbXref	Orphanet:662184	Congenital muscular dystrophy-cataract-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0024609	vulvar squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:494448	Vulvar squamous cell carcinoma	semapv:ManualMappingCuration
MONDO:0024686	tenosynovial giant cell tumor, diffuse type	oboInOwl:hasDbXref	Orphanet:66627	Tenosynovial giant cell tumor	semapv:ManualMappingCuration
MONDO:0024770	autoinflammatory syndrome, familial, X-linked, Behcet-like 2	oboInOwl:hasDbXref	Orphanet:676125	X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency	semapv:ManualMappingCuration
MONDO:0024777	immunodeficiency 98 with autoinflammation, X-linked	oboInOwl:hasDbXref	Orphanet:675628	TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome	semapv:ManualMappingCuration
MONDO:0024781	immunodeficiency 102	oboInOwl:hasDbXref	Orphanet:653751	X-linked combined immunodeficiency due to SASH3 deficiency	semapv:ManualMappingCuration
MONDO:0024987	obsolete genetic urogenital tract malformation	oboInOwl:hasDbXref	Orphanet:156622	Genetic urogenital tract malformation	semapv:ManualMappingCuration
MONDO:0025193	oculopharyngodistal myopathy	oboInOwl:hasDbXref	Orphanet:98897	Oculopharyngodistal myopathy	semapv:ManualMappingCuration
MONDO:0025511	obsolete inherited neuroendocrine tumor	oboInOwl:hasDbXref	Orphanet:271847	Genetic neuroendocrine tumor	semapv:ManualMappingCuration
MONDO:0025514	livedoid vasculopathy	oboInOwl:hasDbXref	Orphanet:542643	Livedoid vasculopathy	semapv:ManualMappingCuration
MONDO:0025667	limbal stem cell deficiency	oboInOwl:hasDbXref	Orphanet:171673	Limbal stem cell deficiency	semapv:ManualMappingCuration
MONDO:0026141	obsolete genetic urticaria	oboInOwl:hasDbXref	Orphanet:182734	Genetic urticaria	semapv:ManualMappingCuration
MONDO:0026150	obsolete genetic erythrokeratoderma	oboInOwl:hasDbXref	Orphanet:183438	Genetic erythrokeratoderma	semapv:ManualMappingCuration
MONDO:0026151	obsolete genetic acrokeratoderma	oboInOwl:hasDbXref	Orphanet:183441	Genetic acrokeratoderma	semapv:ManualMappingCuration
MONDO:0026152	obsolete genetic porokeratosis	oboInOwl:hasDbXref	Orphanet:183444	Genetic porokeratosis	semapv:ManualMappingCuration
MONDO:0026157	obsolete genetic pigmentation anomaly of the skin	oboInOwl:hasDbXref	Orphanet:183463	Genetic pigmentation anomaly of the skin	semapv:ManualMappingCuration
MONDO:0026160	obsolete genetic dermis disorder	oboInOwl:hasDbXref	Orphanet:183472	Genetic dermis disorder	semapv:ManualMappingCuration
MONDO:0026166	obsolete genetic immune deficiency with skin involvement	oboInOwl:hasDbXref	Orphanet:183494	Genetic immune deficiency with skin involvement	semapv:ManualMappingCuration
MONDO:0026167	obsolete genetic neuromuscular disease	oboInOwl:hasDbXref	Orphanet:183497	Genetic neuromuscular disease	semapv:ManualMappingCuration
MONDO:0026170	obsolete genetic central nervous system malformation	oboInOwl:hasDbXref	Orphanet:183506	Genetic central nervous system malformation	semapv:ManualMappingCuration
MONDO:0026173	obsolete rare genetic medullar disease	oboInOwl:hasDbXref	Orphanet:183515	Rare genetic medullar disease	semapv:ManualMappingCuration
MONDO:0026180	obsolete genetic congenital limb malformation	oboInOwl:hasDbXref	Orphanet:183536	Genetic congenital limb malformation	semapv:ManualMappingCuration
MONDO:0026181	obsolete genetic renal or urinary tract malformation	oboInOwl:hasDbXref	Orphanet:183539	Genetic renal or urinary tract malformation	semapv:ManualMappingCuration
MONDO:0026182	obsolete genetic cranial malformation	oboInOwl:hasDbXref	Orphanet:183542	Genetic cranial malformation	semapv:ManualMappingCuration
MONDO:0026183	obsolete genetic digestive tract malformation	oboInOwl:hasDbXref	Orphanet:183545	Genetic digestive tract malformation	semapv:ManualMappingCuration
MONDO:0026184	obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen	oboInOwl:hasDbXref	Orphanet:183548	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	semapv:ManualMappingCuration
MONDO:0026185	obsolete genetic respiratory or mediastinal malformation	oboInOwl:hasDbXref	Orphanet:183554	Genetic respiratory or mediastinal malformation	semapv:ManualMappingCuration
MONDO:0026186	obsolete genetic developmental defect of the eye	oboInOwl:hasDbXref	Orphanet:183557	Genetic developmental defect of the eye	semapv:ManualMappingCuration
MONDO:0026187	obsolete genetic malformation syndrome with short stature	oboInOwl:hasDbXref	Orphanet:183570	Genetic malformation syndrome with short stature	semapv:ManualMappingCuration
MONDO:0026188	obsolete genetic overgrowth/obesity syndrome	oboInOwl:hasDbXref	Orphanet:183573	Genetic overgrowth/obesity syndrome	semapv:ManualMappingCuration
MONDO:0026189	obsolete genetic branchial arch or oral-acral syndrome	oboInOwl:hasDbXref	Orphanet:183576	Genetic branchial arch or oral-acral syndrome	semapv:ManualMappingCuration
MONDO:0026190	obsolete genetic malformation syndrome with odontal and/or periodontal component	oboInOwl:hasDbXref	Orphanet:183580	Genetic malformation syndrome with odontal and/or periodontal component	semapv:ManualMappingCuration
MONDO:0026192	obsolete genetic glomerular disease	oboInOwl:hasDbXref	Orphanet:183586	Genetic glomerular disease	semapv:ManualMappingCuration
MONDO:0026193	obsolete genetic thrombotic microangiopathy	oboInOwl:hasDbXref	Orphanet:183589	Genetic thrombotic microangiopathy	semapv:ManualMappingCuration
MONDO:0026203	obsolete genetic respiratory malformation	oboInOwl:hasDbXref	Orphanet:183622	Genetic respiratory malformation	semapv:ManualMappingCuration
MONDO:0026209	obsolete genetic polyendocrinopathy	oboInOwl:hasDbXref	Orphanet:183643	Genetic polyendocrinopathy	semapv:ManualMappingCuration
MONDO:0026777	VEXAS syndrome	oboInOwl:hasDbXref	Orphanet:596753	VEXAS syndrome	semapv:ManualMappingCuration
MONDO:0026989	obsolete syndrome associated with hypertrophic cardiomyopathy	oboInOwl:hasDbXref	Orphanet:217595	Syndrome associated with hypertrophic cardiomyopathy	semapv:ManualMappingCuration
MONDO:0027652	5-fluorouracil toxicity	oboInOwl:hasDbXref	Orphanet:240839		semapv:ManualMappingCuration
MONDO:0027653	abacavir toxicity	oboInOwl:hasDbXref	Orphanet:240841		semapv:ManualMappingCuration
MONDO:0027655	allopurinol toxicity	oboInOwl:hasDbXref	Orphanet:240845		semapv:ManualMappingCuration
MONDO:0027664	cisplatin toxicity	oboInOwl:hasDbXref	Orphanet:240863		semapv:ManualMappingCuration
MONDO:0027666	codeine toxicity	oboInOwl:hasDbXref	Orphanet:240867		semapv:ManualMappingCuration
MONDO:0027667	efavirenz toxicity	oboInOwl:hasDbXref	Orphanet:240869		semapv:ManualMappingCuration
MONDO:0027668	flucloxacilline toxicity	oboInOwl:hasDbXref	Orphanet:240871		semapv:ManualMappingCuration
MONDO:0027675	irinotecan toxicity	oboInOwl:hasDbXref	Orphanet:240885		semapv:ManualMappingCuration
MONDO:0027677	isoniazid toxicity	oboInOwl:hasDbXref	Orphanet:240887		semapv:ManualMappingCuration
MONDO:0027687	raltegravir toxicity	oboInOwl:hasDbXref	Orphanet:240905		semapv:ManualMappingCuration
MONDO:0027696	voriconazole toxicity	oboInOwl:hasDbXref	Orphanet:240921		semapv:ManualMappingCuration
MONDO:0027749	serpinopathy	oboInOwl:hasDbXref	Orphanet:250805	Serpinopathy	semapv:ManualMappingCuration
MONDO:0027750	obsolete serpinopathy with toxic serpin polymerization	oboInOwl:hasDbXref	Orphanet:250808	Serpinopathy with toxic serpin polymerization	semapv:ManualMappingCuration
MONDO:0027751	obsolete serpinopathy with loss of serpin function	oboInOwl:hasDbXref	Orphanet:250811	Serpinopathy with loss of serpin function	semapv:ManualMappingCuration
MONDO:0027929	obsolete genetic polycythemia	oboInOwl:hasDbXref	Orphanet:250165	Genetic polycythemia	semapv:ManualMappingCuration
MONDO:0028226	autosomal recessive severe congenital neutropenia	oboInOwl:hasDbXref	Orphanet:439849	Autosomal recessive severe congenital neutropenia	semapv:ManualMappingCuration
MONDO:0028569	obsolete genetic interstitial lung disease	oboInOwl:hasDbXref	Orphanet:264992	Genetic interstitial lung disease	semapv:ManualMappingCuration
MONDO:0028618	obsolete gastroenteric neuroendocrine neoplasm	oboInOwl:hasDbXref	Orphanet:481508	Gastroenteric neuroendocrine neoplasm	semapv:ManualMappingCuration
MONDO:0028737	obsolete biliary atresia disorder	oboInOwl:hasDbXref	Orphanet:498345	Biliary atresia and associated disorders	semapv:ManualMappingCuration
MONDO:0028795	obsolete rare genetic systemic or rheumatologic disease	oboInOwl:hasDbXref	Orphanet:271870	Rare genetic systemic or rheumatologic disease	semapv:ManualMappingCuration
MONDO:0028868	obsolete genetic frontotemporal degeneration with dementia	oboInOwl:hasDbXref	Orphanet:276061	Genetic frontotemporal degeneration with dementia	semapv:ManualMappingCuration
MONDO:0029014	obsolete rare systemic or rheumatological disease of childhood	oboInOwl:hasDbXref	Orphanet:280342	Rare systemic or rheumatological disease of childhood	semapv:ManualMappingCuration
MONDO:0029051	obsolete autosomal recessive nail dysplasia	oboInOwl:hasDbXref	Orphanet:280654	Autosomal recessive nail dysplasia	semapv:ManualMappingCuration
MONDO:0029102	obsolete autosomal ichthyosis syndrome with other associated signs	oboInOwl:hasDbXref	Orphanet:281244	Autosomal ichthyosis syndrome with other associated signs	semapv:ManualMappingCuration
MONDO:0029133	muscular dystrophy, limb-girdle, autosomal dominant 4	oboInOwl:hasDbXref	Orphanet:565909	Calpain-3-related limb-girdle muscular dystrophy D4	semapv:ManualMappingCuration
MONDO:0029134	severe combined immunodeficiency due to CARMIL2 deficiency	oboInOwl:hasDbXref	Orphanet:542301	Combined immunodeficiency due to CARMIL2 deficiency	semapv:ManualMappingCuration
MONDO:0029136	muscular dystrophy, limb-girdle, autosomal recessive 23	oboInOwl:hasDbXref	Orphanet:565837	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23	semapv:ManualMappingCuration
MONDO:0029810	obsolete laminopathy with striated muscle involvement	oboInOwl:hasDbXref	Orphanet:300755	Laminopathy with striated muscle involvement	semapv:ManualMappingCuration
MONDO:0029811	obsolete laminopathy with peripheral neuropathy	oboInOwl:hasDbXref	Orphanet:300758	Laminopathy with peripheral neuropathy	semapv:ManualMappingCuration
MONDO:0029812	obsolete laminopathy with lipodystrophy	oboInOwl:hasDbXref	Orphanet:300763	Laminopathy with lipodystrophy	semapv:ManualMappingCuration
MONDO:0029813	obsolete laminopathy with premature aging	oboInOwl:hasDbXref	Orphanet:300766	Laminopathy with premature aging	semapv:ManualMappingCuration
MONDO:0030006	combined oxidative phosphorylation deficiency 40	oboInOwl:hasDbXref	Orphanet:570491	QRSL1-related combined oxidative phosphorylation defect	semapv:ManualMappingCuration
MONDO:0030045	Liberfarb syndrome	oboInOwl:hasDbXref	Orphanet:589442	Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome	semapv:ManualMappingCuration
MONDO:0030048	harderoporphyria	oboInOwl:hasDbXref	Orphanet:659672	Harderoporphyria	semapv:ManualMappingCuration
MONDO:0030073	Mitchell syndrome	oboInOwl:hasDbXref	Orphanet:631248	Mitchell Syndrome	semapv:ManualMappingCuration
MONDO:0030074	spondylometaphyseal dysplasia with corneal dystrophy	oboInOwl:hasDbXref	Orphanet:589435	Spondylometaphyseal dysplasia-corneal dystrophy syndrome	semapv:ManualMappingCuration
MONDO:0030105	galactosemia 4	oboInOwl:hasDbXref	Orphanet:570422	Galactose mutarotase deficiency	semapv:ManualMappingCuration
MONDO:0030258	pontocerebellar hypoplasia, type 14	oboInOwl:hasDbXref	Orphanet:613274	Pontocerebellar hypoplasia type 14	semapv:ManualMappingCuration
MONDO:0030482	spastic paraplegia 84, autosomal recessive	oboInOwl:hasDbXref	Orphanet:631079	Autosomal recessive spastic paraplegia type 84	semapv:ManualMappingCuration
MONDO:0030512	spastic paraplegia 85, autosomal recessive	oboInOwl:hasDbXref	Orphanet:631082	Autosomal recessive spastic paraplegia type 85	semapv:ManualMappingCuration
MONDO:0030524	mucopolysaccharidosis, type 10	oboInOwl:hasDbXref	Orphanet:662216	Mucopolysaccharidosis type 10	semapv:ManualMappingCuration
MONDO:0030673	spastic paraplegia 86, autosomal recessive	oboInOwl:hasDbXref	Orphanet:631085	Autosomal recessive spastic paraplegia type 86	semapv:ManualMappingCuration
MONDO:0030767	obsolete genetic tumor of hematopoietic and lymphoid tissues	oboInOwl:hasDbXref	Orphanet:322126	Genetic tumor of hematopoietic and lymphoid tissues	semapv:ManualMappingCuration
MONDO:0030805	spinocerebellar ataxia 49	oboInOwl:hasDbXref	Orphanet:631106	Spinocerebellar ataxia type 49	semapv:ManualMappingCuration
MONDO:0030880	mandibuloacral dysplasia progeroid syndrome	oboInOwl:hasDbXref	Orphanet:647667	Mandibuloacral dysplasia associated to MTX2	semapv:ManualMappingCuration
MONDO:0030894	AMED syndrome, digenic	oboInOwl:hasDbXref	Orphanet:611216	Aplastic anemia-intellectual disability-dwarfism syndrome	semapv:ManualMappingCuration
MONDO:0030898	immunodeficiency 76	oboInOwl:hasDbXref	Orphanet:647804	Combined immunodeficiency due to FCHO1 deficiency	semapv:ManualMappingCuration
MONDO:0030899	oculocutaneous albinism type 8	oboInOwl:hasDbXref	Orphanet:597733	Oculocutaneous albinism type 8	semapv:ManualMappingCuration
MONDO:0030912	intellectual disability, autosomal dominant 47	oboInOwl:hasDbXref	Orphanet:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	semapv:ManualMappingCuration
MONDO:0030913	intellectual disability, autosomal dominant 48	oboInOwl:hasDbXref	Orphanet:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	semapv:ManualMappingCuration
MONDO:0030914	Clark-Baraitser syndrome	oboInOwl:hasDbXref	Orphanet:600731	Clark-Baraitser syndrome	semapv:ManualMappingCuration
MONDO:0030947	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	oboInOwl:hasDbXref	Orphanet:610573	CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome	semapv:ManualMappingCuration
MONDO:0031004	obsolete genetic disorder of sex development of gynecological interest	oboInOwl:hasDbXref	Orphanet:325665	Genetic difference of sex development of gynecological interest	semapv:ManualMappingCuration
MONDO:0031007	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	oboInOwl:hasDbXref	Orphanet:611207	Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome	semapv:ManualMappingCuration
MONDO:0031008	nephrotic syndrome, type 24	oboInOwl:hasDbXref	Orphanet:567548	Idiopathic steroid-resistant nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0031016	obsolete genetic disorder of sex development	oboInOwl:hasDbXref	Orphanet:325690	Genetic difference of sex development	semapv:ManualMappingCuration
MONDO:0031019	spastic paraplegia 87, autosomal recessive	oboInOwl:hasDbXref	Orphanet:631088	Autosomal recessive spastic paraplegia type 87	semapv:ManualMappingCuration
MONDO:0031037	famililal cerebral cavernous malformations	oboInOwl:hasDbXref	Orphanet:221061	Familial cerebral cavernous malformation	semapv:ManualMappingCuration
MONDO:0031213	restrictive dermopathy	oboInOwl:hasDbXref	Orphanet:1662	Restrictive dermopathy	semapv:ManualMappingCuration
MONDO:0031219	mismatch repair cancer syndrome	oboInOwl:hasDbXref	Orphanet:252202	Constitutional mismatch repair deficiency syndrome	semapv:ManualMappingCuration
MONDO:0031257	high altitude pulmonary edema	oboInOwl:hasDbXref	Orphanet:330012	High altitude pulmonary edema	semapv:ManualMappingCuration
MONDO:0031322	triopia	oboInOwl:hasDbXref	Orphanet:3374	Unilateral ocular duplication	semapv:ManualMappingCuration
MONDO:0031415	Carey-Fineman-Ziter syndrome	oboInOwl:hasDbXref	Orphanet:1358	Carey-Fineman-Ziter syndrome	semapv:ManualMappingCuration
MONDO:0031421	Olmsted syndrome	oboInOwl:hasDbXref	Orphanet:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	semapv:ManualMappingCuration
MONDO:0031446	hypercholanemia, familial 1	oboInOwl:hasDbXref	Orphanet:238475	Familial hypercholanemia	semapv:ManualMappingCuration
MONDO:0031481	microcephaly, epilepsy, and diabetes syndrome 1	oboInOwl:hasDbXref	Orphanet:306558	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	semapv:ManualMappingCuration
MONDO:0031689	obsolete genetic progeroid syndrome	oboInOwl:hasDbXref	Orphanet:363245	Genetic progeroid syndrome	semapv:ManualMappingCuration
MONDO:0031697	obsolete genetic intractable diarrhea of infancy	oboInOwl:hasDbXref	Orphanet:363300	Genetic intractable diarrhea of infancy	semapv:ManualMappingCuration
MONDO:0031698	obsolete genetic intestinal disease due to fat malabsorption	oboInOwl:hasDbXref	Orphanet:363306	Genetic intestinal disease due to fat malabsorption	semapv:ManualMappingCuration
MONDO:0031799	obsolete rare bone disease related to a common gene or pathway defect	oboInOwl:hasDbXref	Orphanet:364803	Rare bone disease related to a common gene or pathway defect	semapv:ManualMappingCuration
MONDO:0031949	obsolete genetic neurovascular malformation	oboInOwl:hasDbXref	Orphanet:371436	Genetic neurovascular malformation	semapv:ManualMappingCuration
MONDO:0031952	obsolete genetic syndromic esophageal malformation	oboInOwl:hasDbXref	Orphanet:371445	Genetic syndromic esophageal malformation	semapv:ManualMappingCuration
MONDO:0032011	obsolete biological anomaly	oboInOwl:hasDbXref	Orphanet:377790	Biological anomaly	semapv:ManualMappingCuration
MONDO:0032013	obsolete clinical syndrome	oboInOwl:hasDbXref	Orphanet:377792	Clinical syndrome	semapv:ManualMappingCuration
MONDO:0032014	obsolete particular clinical situation in a disease or syndrome	oboInOwl:hasDbXref	Orphanet:377793	Particular clinical situation in a disease or syndrome	semapv:ManualMappingCuration
MONDO:0032221	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	oboInOwl:hasDbXref	Orphanet:399846	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	semapv:ManualMappingCuration
MONDO:0032526	spinocerebellar ataxia 48	oboInOwl:hasDbXref	Orphanet:631103	Spinocerebellar ataxia type 48	semapv:ManualMappingCuration
MONDO:0032600	Snijders Blok-Campeau syndrome	oboInOwl:hasDbXref	Orphanet:599082	CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0032601	inflammatory bowel disease, immunodeficiency, and encephalopathy	oboInOwl:hasDbXref	Orphanet:565788	Infantile inflammatory bowel disease with neurological involvement	semapv:ManualMappingCuration
MONDO:0032642	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	oboInOwl:hasDbXref	Orphanet:565858	Craniosynostosis-microretrognathia-severe intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0032643	pontocerebellar hypoplasia, type 12	oboInOwl:hasDbXref	Orphanet:611256	Pontocerebellar hypoplasia type 12	semapv:ManualMappingCuration
MONDO:0032653	cardiac-urogenital syndrome	oboInOwl:hasDbXref	Orphanet:647811	Cardiac-urogenital syndrome	semapv:ManualMappingCuration
MONDO:0032654	hyper-IgE recurrent infection syndrome 3, autosomal recessive	oboInOwl:hasDbXref	Orphanet:641368	Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	semapv:ManualMappingCuration
MONDO:0032672	intellectual developmental disorder with cardiac defects and dysmorphic facies	oboInOwl:hasDbXref	Orphanet:562569	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0032677	lissencephaly 9 with complex brainstem malformation	oboInOwl:hasDbXref	Orphanet:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	semapv:ManualMappingCuration
MONDO:0032678	developmental and epileptic encephalopathy, 71	oboInOwl:hasDbXref	Orphanet:557064	Neonatal epileptic encephalopathy due to glutaminase deficiency	semapv:ManualMappingCuration
MONDO:0032688	polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	oboInOwl:hasDbXref	Orphanet:636941	Vascular Ehlers-Danlos-polymicrogyria syndrome	semapv:ManualMappingCuration
MONDO:0032705	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	oboInOwl:hasDbXref	Orphanet:597874	MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome	semapv:ManualMappingCuration
MONDO:0032714	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:598603	Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0032716	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	oboInOwl:hasDbXref	Orphanet:615964	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate	semapv:ManualMappingCuration
MONDO:0032724	spondyloepimetaphyseal dysplasia with joint laxity, type 3	oboInOwl:hasDbXref	Orphanet:642085	EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity	semapv:ManualMappingCuration
MONDO:0032726	combined oxidative phosphorylation deficiency 39	oboInOwl:hasDbXref	Orphanet:565624	Combined oxidative phosphorylation defect type 39	semapv:ManualMappingCuration
MONDO:0032737	spastic paraplegia 80, autosomal dominant	oboInOwl:hasDbXref	Orphanet:631068	Autosomal dominant spastic paraplegia type 80	semapv:ManualMappingCuration
MONDO:0032780	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	oboInOwl:hasDbXref	Orphanet:656273	OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0032814	microangiopathy and leukoencephalopathy, pontine, autosomal dominant	oboInOwl:hasDbXref	Orphanet:477749	Pontine autosomal dominant microangiopathy with leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0032819	hypothyroidism, congenital, nongoitrous, 7	oboInOwl:hasDbXref	Orphanet:99832	Resistance to thyrotropin-releasing hormone syndrome	semapv:ManualMappingCuration
MONDO:0032820	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	oboInOwl:hasDbXref	Orphanet:659609	Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome	semapv:ManualMappingCuration
MONDO:0032830	snijders blok-fisher syndrome	oboInOwl:hasDbXref	Orphanet:656135	Intellectual disability-cupped ears syndrome	semapv:ManualMappingCuration
MONDO:0032831	pontocerebellar hypoplasia, type 13	oboInOwl:hasDbXref	Orphanet:613267	Pontocerebellar hypoplasia type 13	semapv:ManualMappingCuration
MONDO:0032836	Weiss-Kruszka syndrome	oboInOwl:hasDbXref	Orphanet:502430	Weiss-Kruszka Syndrome	semapv:ManualMappingCuration
MONDO:0032838	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	oboInOwl:hasDbXref	Orphanet:664923	Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome	semapv:ManualMappingCuration
MONDO:0032882	Heyn-Sproul-Jackson syndrome	oboInOwl:hasDbXref	Orphanet:658595	DNMT3A-related microcephalic dwarfism	semapv:ManualMappingCuration
MONDO:0032886	Liang-Wang syndrome	oboInOwl:hasDbXref	Orphanet:664438	Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0032899	neutropenia, severe congenital, 8, autosomal dominant	oboInOwl:hasDbXref	Orphanet:675767	Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency	semapv:ManualMappingCuration
MONDO:0032906	spastic paraplegia 82, autosomal recessive	oboInOwl:hasDbXref	Orphanet:631073	Autosomal recessive spastic paraplegia type 82	semapv:ManualMappingCuration
MONDO:0032916	Imagawa-Matsumoto syndrome	oboInOwl:hasDbXref	Orphanet:659463	Imagawa-Matsumoto syndrome	semapv:ManualMappingCuration
MONDO:0032928	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant	oboInOwl:hasDbXref	Orphanet:676039	Combined immunodeficiency due to FOXN1 haploinsufficiency	semapv:ManualMappingCuration
MONDO:0032931	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	oboInOwl:hasDbXref	Orphanet:615954	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome	semapv:ManualMappingCuration
MONDO:0032933	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant	oboInOwl:hasDbXref	Orphanet:656279	1p36.33 duplication syndrome	semapv:ManualMappingCuration
MONDO:0032942	neurodevelopmental disorder with microcephaly and dysmorphic facies	oboInOwl:hasDbXref	Orphanet:662179	Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0032943	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	oboInOwl:hasDbXref	Orphanet:662175	Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0033043	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	oboInOwl:hasDbXref	Orphanet:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	semapv:ManualMappingCuration
MONDO:0033056	obsolete genetic facial cleft	oboInOwl:hasDbXref	Orphanet:414726	Genetic facial cleft	semapv:ManualMappingCuration
MONDO:0033135	Charcot-Marie-Tooth disease, demyelinating, type 1G	oboInOwl:hasDbXref	Orphanet:476394	PMP2-related Charcot-Marie-Tooth disease type 1	semapv:ManualMappingCuration
MONDO:0033169	curariform drugs toxicity	oboInOwl:hasDbXref	Orphanet:413693		semapv:ManualMappingCuration
MONDO:0033170	statin toxicity	oboInOwl:hasDbXref	Orphanet:413696		semapv:ManualMappingCuration
MONDO:0033181	phenytoin or carbamazepine toxicity	oboInOwl:hasDbXref	Orphanet:414750		semapv:ManualMappingCuration
MONDO:0033203	nephrotic syndrome 14	oboInOwl:hasDbXref	Orphanet:506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	semapv:ManualMappingCuration
MONDO:0033282	multiple mitochondrial dysfunctions syndrome 5	oboInOwl:hasDbXref	Orphanet:569274	Multiple mitochondrial dysfunctions syndrome type 5	semapv:ManualMappingCuration
MONDO:0033329	obsolete genetic precocious puberty	oboInOwl:hasDbXref	Orphanet:435554	Genetic precocious puberty	semapv:ManualMappingCuration
MONDO:0033331	obsolete genetic precocious puberty in female	oboInOwl:hasDbXref	Orphanet:435564	Genetic precocious puberty in female	semapv:ManualMappingCuration
MONDO:0033334	obsolete genetic nose and cavum anomaly	oboInOwl:hasDbXref	Orphanet:435606	Genetic nose and cavum anomaly	semapv:ManualMappingCuration
MONDO:0033335	obsolete genetic larynx anomaly	oboInOwl:hasDbXref	Orphanet:435609	Genetic larynx anomaly	semapv:ManualMappingCuration
MONDO:0033336	obsolete genetic tracheal anomaly	oboInOwl:hasDbXref	Orphanet:435612	Genetic tracheal anomaly	semapv:ManualMappingCuration
MONDO:0033479	spinocerebellar ataxia 44	oboInOwl:hasDbXref	Orphanet:631095	Spinocerebellar ataxia type 44	semapv:ManualMappingCuration
MONDO:0033480	spinocerebellar ataxia 45	oboInOwl:hasDbXref	Orphanet:589527	Spinocerebellar ataxia type 45	semapv:ManualMappingCuration
MONDO:0033481	spinocerebellar ataxia 46	oboInOwl:hasDbXref	Orphanet:589522	Spinocerebellar ataxia type 46	semapv:ManualMappingCuration
MONDO:0033482	spinocerebellar ataxia 47	oboInOwl:hasDbXref	Orphanet:642747	PUM1-related cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0033613	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	oboInOwl:hasDbXref	Orphanet:641353	Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome	semapv:ManualMappingCuration
MONDO:0033614	spastic paraplegia 83, autosomal recessive	oboInOwl:hasDbXref	Orphanet:631076	Autosomal recessive spastic paraplegia type 83	semapv:ManualMappingCuration
MONDO:0033642	neurodevelopmental disorder with alopecia and brain abnormalities	oboInOwl:hasDbXref	Orphanet:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	semapv:ManualMappingCuration
MONDO:0033672	Duane anomaly-myopathy-scoliosis syndrome	oboInOwl:hasDbXref	Orphanet:50817	Duane anomaly-myopathy-scoliosis syndrome	semapv:ManualMappingCuration
MONDO:0033682	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0033683	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0033717	congenital cerebellar ataxia due to RNU12 mutation	oboInOwl:hasDbXref	Orphanet:512260	Congenital cerebellar ataxia due to RNU12 mutation	semapv:ManualMappingCuration
MONDO:0033809	isolated blepharochalasis	oboInOwl:hasDbXref	Orphanet:519390	Isolated blepharochalasis	semapv:ManualMappingCuration
MONDO:0033810	isolated iridoschisis	oboInOwl:hasDbXref	Orphanet:519392	Isolated iridoschisis	semapv:ManualMappingCuration
MONDO:0033816	thygeson superficial punctate keratopathy	oboInOwl:hasDbXref	Orphanet:519406	Thygeson superficial punctate keratitis	semapv:ManualMappingCuration
MONDO:0033818	Terrien marginal degeneration	oboInOwl:hasDbXref	Orphanet:519410	Terrien marginal degeneration	semapv:ManualMappingCuration
MONDO:0033821	fungal keratitis	oboInOwl:hasDbXref	Orphanet:519930	Fungal keratitis	semapv:ManualMappingCuration
MONDO:0033838	radiation-induced plexopathy	oboInOwl:hasDbXref	Orphanet:521123	Radiation-induced plexopathy	semapv:ManualMappingCuration
MONDO:0033839	osteoradionecrosis of the mandible	oboInOwl:hasDbXref	Orphanet:521127	Osteoradionecrosis of the mandible	semapv:ManualMappingCuration
MONDO:0033850	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect	oboInOwl:hasDbXref	Orphanet:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	semapv:ManualMappingCuration
MONDO:0033853	congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:521432	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0033856	LAMA5-related multisystemic syndrome	oboInOwl:hasDbXref	Orphanet:521450	LAMA5-related multisystemic syndrome	semapv:ManualMappingCuration
MONDO:0033862	primary autoimmune enteropathy	oboInOwl:hasDbXref	Orphanet:522037	Primary autoimmune enteropathy	semapv:ManualMappingCuration
MONDO:0033864	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0033885	mitochondrial complex IV deficiency, nuclear-type	oboInOwl:hasDbXref	Orphanet:254905	Isolated cytochrome C oxidase deficiency	semapv:ManualMappingCuration
MONDO:0033925	pediatric-onset Graves disease	oboInOwl:hasDbXref	Orphanet:525731	Pediatric-onset Graves disease	semapv:ManualMappingCuration
MONDO:0033926	prepubertal anorexia nervosa	oboInOwl:hasDbXref	Orphanet:525738	Prepubertal anorexia nervosa	semapv:ManualMappingCuration
MONDO:0033927	obsolete genetic complex vascular malformation with associated anomalies	oboInOwl:hasDbXref	Orphanet:459537	Genetic complex vascular malformation with associated anomalies	semapv:ManualMappingCuration
MONDO:0033938	acute radiation syndrome	oboInOwl:hasDbXref	Orphanet:454831	Acute radiation syndrome	semapv:ManualMappingCuration
MONDO:0033946	hereditary angioedema with C1Inh deficiency	oboInOwl:hasDbXref	Orphanet:528623	Hereditary angioedema with C1Inh deficiency	semapv:ManualMappingCuration
MONDO:0033948	acquired angioedema with C1Inh deficiency	oboInOwl:hasDbXref	Orphanet:528663	Acquired angioedema with C1Inh deficiency	semapv:ManualMappingCuration
MONDO:0033954	monoclonal mast cell activation syndrome	oboInOwl:hasDbXref	Orphanet:529468	Monoclonal mast cell activation syndrome	semapv:ManualMappingCuration
MONDO:0033967	obsolete immune dysregulation with inflammatory bowel disease	oboInOwl:hasDbXref	Orphanet:529974	Immune dysregulation with inflammatory bowel disease	semapv:ManualMappingCuration
MONDO:0033968	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	oboInOwl:hasDbXref	Orphanet:529977	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	semapv:ManualMappingCuration
MONDO:0033969	inflammatory bowel disease-recurrent sinopulmonary infections syndrome	oboInOwl:hasDbXref	Orphanet:529980	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	semapv:ManualMappingCuration
MONDO:0033980	RELA fusion-positive ependymoma	oboInOwl:hasDbXref	Orphanet:530792	RELA fusion-positive ependymoma	semapv:ManualMappingCuration
MONDO:0034021	spondylodysplastic Ehlers-Danlos syndrome	oboInOwl:hasDbXref	Orphanet:536471	Spondylodysplastic Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0034022	Bethlem myopathy 2	oboInOwl:hasDbXref	Orphanet:536516	Myopathic Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0034024	obsolete kyphoscoliotic Ehlers-Danlos syndrome	oboInOwl:hasDbXref	Orphanet:536545	Kyphoscoliotic Ehlers-Danlos syndrome	semapv:ManualMappingCuration
MONDO:0034028	obsolete symptomatic form of hemochromatosis type 1	oboInOwl:hasDbXref	Orphanet:465508	Symptomatic form of HFE-related hemochromatosis	semapv:ManualMappingCuration
MONDO:0034039	obsolete genetic hemoglobinopathy	oboInOwl:hasDbXref	Orphanet:466066	Genetic hemoglobinopathy	semapv:ManualMappingCuration
MONDO:0034041	congenital axonal neuropathy with encephalopathy	oboInOwl:hasDbXref	Orphanet:538101	Congenital axonal neuropathy with encephalopathy	semapv:ManualMappingCuration
MONDO:0034054	severe combined immunodeficiency due to CD70 deficiency	oboInOwl:hasDbXref	Orphanet:538958	Combined immunodeficiency due to CD70 deficiency	semapv:ManualMappingCuration
MONDO:0034092	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0034103	infection-related hemolytic uremic syndrome	oboInOwl:hasDbXref	Orphanet:544482	Infection-related hemolytic uremic syndrome	semapv:ManualMappingCuration
MONDO:0034106	developmental and epileptic encephalopathy, 73	oboInOwl:hasDbXref	Orphanet:544503	RNF13-related severe early-onset epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0034109	congenital myopathy with reduced type 2 muscle fibers	oboInOwl:hasDbXref	Orphanet:544602	Congenital myopathy with reduced type 2 muscle fibers	semapv:ManualMappingCuration
MONDO:0034110	atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	oboInOwl:hasDbXref	Orphanet:544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	semapv:ManualMappingCuration
MONDO:0034121	NAD(P)HX dehydratase deficiency	oboInOwl:hasDbXref	Orphanet:555402	NAD(P)HX dehydratase deficiency	semapv:ManualMappingCuration
MONDO:0034127	IgA pemphigus	oboInOwl:hasDbXref	Orphanet:555905	IgA pemphigus	semapv:ManualMappingCuration
MONDO:0034142	pancreatic agenesis-holoprosencephaly syndrome	oboInOwl:hasDbXref	Orphanet:556955	Pancreatic agenesis-holoprosencephaly syndrome	semapv:ManualMappingCuration
MONDO:0034143	early-onset calcifying leukoencephalopathy-skeletal dysplasia	oboInOwl:hasDbXref	Orphanet:556985	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	semapv:ManualMappingCuration
MONDO:0034145	oculocerebrodental syndrome	oboInOwl:hasDbXref	Orphanet:557003	Oculoskeletodental syndrome	semapv:ManualMappingCuration
MONDO:0034146	spastic ataxia-dysarthria due to glutaminase deficiency	oboInOwl:hasDbXref	Orphanet:557056	Spastic ataxia-dysarthria due to glutaminase deficiency	semapv:ManualMappingCuration
MONDO:0034150	idiopathic gastroparesis	oboInOwl:hasDbXref	Orphanet:558411	Idiopathic gastroparesis	semapv:ManualMappingCuration
MONDO:0034186	autosomal recessive extra-oral halitosis	oboInOwl:hasDbXref	Orphanet:562538	Autosomal recessive extra-oral halitosis	semapv:ManualMappingCuration
MONDO:0034189	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	oboInOwl:hasDbXref	Orphanet:562639	Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	semapv:ManualMappingCuration
MONDO:0034204	syndromic congenital sodium diarrhea	oboInOwl:hasDbXref	Orphanet:563708	Syndromic congenital sodium diarrhea	semapv:ManualMappingCuration
MONDO:0034212	methotrexate toxicity	oboInOwl:hasDbXref	Orphanet:565782	Methotrexate toxicity	semapv:ManualMappingCuration
MONDO:0034216	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	oboInOwl:hasDbXref	Orphanet:566231	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	semapv:ManualMappingCuration
MONDO:0034217	obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	oboInOwl:hasDbXref	Orphanet:566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	semapv:ManualMappingCuration
MONDO:0034443	obsolete genetic non-acquired premature ovarian failure	oboInOwl:hasDbXref	Orphanet:485382	Rare genetic premature ovarian failure	semapv:ManualMappingCuration
MONDO:0034556	vibratory angioedema	oboInOwl:hasDbXref	Orphanet:493348	OBSOLETE: Vibratory angioedema	semapv:ManualMappingCuration
MONDO:0034641	obsolete rare genetic hyperkinetic movement disorder	oboInOwl:hasDbXref	Orphanet:496916	Rare genetic hyperkinetic movement disorder	semapv:ManualMappingCuration
MONDO:0034661	obsolete syndromic biliary atresia	oboInOwl:hasDbXref	Orphanet:498350	Syndromic biliary atresia	semapv:ManualMappingCuration
MONDO:0034667	obsolete longitudinal limb defect	oboInOwl:hasDbXref	Orphanet:498457	Non-syndromic longitudinal limb defect	semapv:ManualMappingCuration
MONDO:0034668	obsolete terminal transverse limb defect	oboInOwl:hasDbXref	Orphanet:498461	Non-syndromic terminal transverse limb defect	semapv:ManualMappingCuration
MONDO:0034669	obsolete non-syndromic preaxial polydactyly	oboInOwl:hasDbXref	Orphanet:498464	Non-syndromic preaxial polydactyly	semapv:ManualMappingCuration
MONDO:0034670	obsolete non-syndromic postaxial polydactyly	oboInOwl:hasDbXref	Orphanet:498467	Non-syndromic postaxial polydactyly	semapv:ManualMappingCuration
MONDO:0034671	obsolete non-syndromic complex polydactyly	oboInOwl:hasDbXref	Orphanet:498470	Non-syndromic complex polydactyly	semapv:ManualMappingCuration
MONDO:0034676	overgrowth syndrome with 2q37 translocation	oboInOwl:hasDbXref	Orphanet:498488	Overgrowth syndrome with 2q37 translocation	semapv:ManualMappingCuration
MONDO:0034678	obsolete mirror-image polydactyly	oboInOwl:hasDbXref	Orphanet:498494	Mirror-image polydactyly	semapv:ManualMappingCuration
MONDO:0034733	obsolete cochlear nerve deficiency	oboInOwl:hasDbXref	Orphanet:502318	Cochlear nerve deficiency	semapv:ManualMappingCuration
MONDO:0034819	obsolete familial intestinal malrotation	oboInOwl:hasDbXref	Orphanet:508410	Familial intestinal malrotation	semapv:ManualMappingCuration
MONDO:0034820	cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	oboInOwl:hasDbXref	Orphanet:508476	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	semapv:ManualMappingCuration
MONDO:0034846	primary desmosis coli	oboInOwl:hasDbXref	Orphanet:565641	Primary desmosis coli	semapv:ManualMappingCuration
MONDO:0034872	obsolete large granular lymphocyte leukemia	oboInOwl:hasDbXref	Orphanet:512034	Large granular lymphocyte leukemia	semapv:ManualMappingCuration
MONDO:0034895	congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	oboInOwl:hasDbXref	Orphanet:514352	Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	semapv:ManualMappingCuration
MONDO:0034901	obsolete ATP13A2-related parkinsonism	oboInOwl:hasDbXref	Orphanet:514980	ATP13A2-related parkinsonism	semapv:ManualMappingCuration
MONDO:0034923	obsolete inflammatory/autoimmune disorder involving the lacrimal system	oboInOwl:hasDbXref	Orphanet:519264	Inflammatory/autoimmune disorder involving the lacrimal system	semapv:ManualMappingCuration
MONDO:0034926	obsolete rare disorder with entropion	oboInOwl:hasDbXref	Orphanet:519270	Rare disorder with entropion	semapv:ManualMappingCuration
MONDO:0034931	obsolete rare conjunctivitis	oboInOwl:hasDbXref	Orphanet:519280	Rare conjunctivitis	semapv:ManualMappingCuration
MONDO:0034937	obsolete syndromic ectopia lentis	oboInOwl:hasDbXref	Orphanet:519292	Syndromic ectopia lentis	semapv:ManualMappingCuration
MONDO:0034943	obsolete isolated vitreoretinopathy	oboInOwl:hasDbXref	Orphanet:519304	Isolated vitreoretinopathy	semapv:ManualMappingCuration
MONDO:0034953	obsolete syndromic inherited retinal disorder	oboInOwl:hasDbXref	Orphanet:519325	Syndromic inherited retinal disorder	semapv:ManualMappingCuration
MONDO:0034954	obsolete syndromic vitreoretinopathy	oboInOwl:hasDbXref	Orphanet:519327	Syndromic vitreoretinopathy	semapv:ManualMappingCuration
MONDO:0034961	obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature	oboInOwl:hasDbXref	Orphanet:519341	Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature	semapv:ManualMappingCuration
MONDO:0034962	obsolete rare ophthalmic disorder with cortical involvement	oboInOwl:hasDbXref	Orphanet:519343	Rare ophthalmic disorder with cortical involvement	semapv:ManualMappingCuration
MONDO:0034965	obsolete rare ophthalmic disorder with cranial nerve involvement	oboInOwl:hasDbXref	Orphanet:519349	Rare ophthalmic disorder with cranial nerve involvement	semapv:ManualMappingCuration
MONDO:0034968	obsolete rare ocular motility/alignment disorder	oboInOwl:hasDbXref	Orphanet:519355	Rare ocular motility/alignment disorder	semapv:ManualMappingCuration
MONDO:0034971	isolated congenital entropion	oboInOwl:hasDbXref	Orphanet:519386	Isolated congenital entropion	semapv:ManualMappingCuration
MONDO:0034976	iatrogenic Creutzfeldt-Jakob disease	oboInOwl:hasDbXref	Orphanet:576379	Iatrogenic Creutzfeldt-Jakob disease	semapv:ManualMappingCuration
MONDO:0034977	obsolete isolated microspherophakia	oboInOwl:hasDbXref	Orphanet:519396	Isolated microspherophakia	semapv:ManualMappingCuration
MONDO:0034978	isolated foveal hypoplasia	oboInOwl:hasDbXref	Orphanet:519398	Isolated foveal hypoplasia	semapv:ManualMappingCuration
MONDO:0034979	obsolete peripapillary staphyloma	oboInOwl:hasDbXref	Orphanet:519400	Peripapillary staphyloma	semapv:ManualMappingCuration
MONDO:0034980	obsolete isolated megalopapilla	oboInOwl:hasDbXref	Orphanet:519402	Isolated megalopapilla	semapv:ManualMappingCuration
MONDO:0034981	obsolete optic disk pit	oboInOwl:hasDbXref	Orphanet:519404	Optic disc pit	semapv:ManualMappingCuration
MONDO:0034987	intraductal tubulopapillary neoplasm of pancreas	oboInOwl:hasDbXref	Orphanet:580572	Intraductal tubulopapillary neoplasm of pancreas	semapv:ManualMappingCuration
MONDO:0034989	intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	oboInOwl:hasDbXref	Orphanet:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	semapv:ManualMappingCuration
MONDO:0034991	intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	oboInOwl:hasDbXref	Orphanet:508512	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	semapv:ManualMappingCuration
MONDO:0035001	obsolete rare disorder of the visual organs	oboInOwl:hasDbXref	Orphanet:520814	Rare disorder of the visual organs	semapv:ManualMappingCuration
MONDO:0035002	obsolete isolated inherited retinal disorder	oboInOwl:hasDbXref	Orphanet:520817	Isolated inherited retinal disorder	semapv:ManualMappingCuration
MONDO:0035004	serine biosynthesis pathway deficiency, infantile/juvenile form	oboInOwl:hasDbXref	Orphanet:583595	Serine biosynthesis pathway deficiency, infantile/juvenile form	semapv:ManualMappingCuration
MONDO:0035008	isolated splenic vein thrombosis	oboInOwl:hasDbXref	Orphanet:583856	Isolated splenic vein thrombosis	semapv:ManualMappingCuration
MONDO:0035009	isolated mesenteric vein thrombosis	oboInOwl:hasDbXref	Orphanet:583861	Isolated mesenteric vein thrombosis	semapv:ManualMappingCuration
MONDO:0035013	obsolete genetic primary orthostatic disorder	oboInOwl:hasDbXref	Orphanet:521232	Genetic primary orthostatic disorder	semapv:ManualMappingCuration
MONDO:0035014	obsolete primary orthostatic disorder	oboInOwl:hasDbXref	Orphanet:521236	Primary orthostatic disorder	semapv:ManualMappingCuration
MONDO:0035018	frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	oboInOwl:hasDbXref	Orphanet:521308	Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	semapv:ManualMappingCuration
MONDO:0035027	microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0035037	obsolete rare genetic disorder of the visual organs	oboInOwl:hasDbXref	Orphanet:522504	Rare genetic disorder of the visual organs	semapv:ManualMappingCuration
MONDO:0035075	obsolete secondary early-onset glaucoma of genetic origin	oboInOwl:hasDbXref	Orphanet:522580	Secondary early-onset glaucoma of genetic origin	semapv:ManualMappingCuration
MONDO:0035105	diaphragmatic hernia-short bowel-asplenia syndrome	oboInOwl:hasDbXref	Orphanet:527468	Diaphragmatic hernia-short bowel-asplenia syndrome	semapv:ManualMappingCuration
MONDO:0035112	acute myeloid leukemia with BCR-ABL1	oboInOwl:hasDbXref	Orphanet:585867	Acute myeloid leukemia with t(9;22)(q34.1;q11.2)	semapv:ManualMappingCuration
MONDO:0035121	myeloid/lymphoid neoplasm associated with JAK2 rearrangement	oboInOwl:hasDbXref	Orphanet:589542	Myeloid/lymphoid neoplasm associated with JAK2 rearrangement	semapv:ManualMappingCuration
MONDO:0035122	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	oboInOwl:hasDbXref	Orphanet:589547	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	semapv:ManualMappingCuration
MONDO:0035124	linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	oboInOwl:hasDbXref	Orphanet:589608	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	semapv:ManualMappingCuration
MONDO:0035133	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	oboInOwl:hasDbXref	Orphanet:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	semapv:ManualMappingCuration
MONDO:0035136	isolated melanotic schwannoma	oboInOwl:hasDbXref	Orphanet:590539	Isolated melanotic schwannoma	semapv:ManualMappingCuration
MONDO:0035149	secondary erythromelalgia	oboInOwl:hasDbXref	Orphanet:529864	Secondary erythromelalgia	semapv:ManualMappingCuration
MONDO:0035151	17q24.2 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:529962	17q24.2 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0035153	male infertility due to acephalic spermatozoa	oboInOwl:hasDbXref	Orphanet:529970	Male infertility due to acephalic spermatozoa	semapv:ManualMappingCuration
MONDO:0035159	dermoid or epidermoid cyst of the central nervous system	oboInOwl:hasDbXref	Orphanet:530033	Dermoid or epidermoid cyst of the central nervous system	semapv:ManualMappingCuration
MONDO:0035161	progressive dementia with neuroserpin inclusion bodies	oboInOwl:hasDbXref	Orphanet:530303	Progressive dementia with neuroserpin inclusion bodies	semapv:ManualMappingCuration
MONDO:0035162	obsolete PIK3CA-related overgrowth syndrome	oboInOwl:hasDbXref	Orphanet:530313	PIK3CA-related overgrowth syndrome	semapv:ManualMappingCuration
MONDO:0035173	9q21.13 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:531151	9q21.13 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0035220	PLG-related hereditary angioedema with normal C1inh	oboInOwl:hasDbXref	Orphanet:537072	PLG-related hereditary angioedema with normal C1Inh	semapv:ManualMappingCuration
MONDO:0035235	classic pyoderma gangrenosum	oboInOwl:hasDbXref	Orphanet:538863	Classic pyoderma gangrenosum	semapv:ManualMappingCuration
MONDO:0035236	pustular pyoderma gangrenosum	oboInOwl:hasDbXref	Orphanet:538866	Pustular pyoderma gangrenosum	semapv:ManualMappingCuration
MONDO:0035237	bullous pyoderma gangrenosum	oboInOwl:hasDbXref	Orphanet:538869	Bullous pyoderma gangrenosum	semapv:ManualMappingCuration
MONDO:0035238	vegetative pyoderma gangrenosum	oboInOwl:hasDbXref	Orphanet:538872	Vegetative pyoderma gangrenosum	semapv:ManualMappingCuration
MONDO:0035249	obsolete anomalous aortic origin of the left coronary artery	oboInOwl:hasDbXref	Orphanet:541443	Anomalous aortic origin of the left coronary artery	semapv:ManualMappingCuration
MONDO:0035250	obsolete anomalous aortic origin of the right coronary artery	oboInOwl:hasDbXref	Orphanet:541454	Anomalous aortic origin of the right coronary artery	semapv:ManualMappingCuration
MONDO:0035251	obsolete anomalous aortic origin of coronary artery	oboInOwl:hasDbXref	Orphanet:541478	Anomalous aortic origin of coronary artery	semapv:ManualMappingCuration
MONDO:0035252	obsolete anomalous origin of coronary artery from the pulmonary artery	oboInOwl:hasDbXref	Orphanet:541507	Anomalous origin of coronary artery from the pulmonary artery	semapv:ManualMappingCuration
MONDO:0035267	obsolete quadricuspid aortic valve	oboInOwl:hasDbXref	Orphanet:542568	Quadricuspid aortic valve	semapv:ManualMappingCuration
MONDO:0035274	obsolete anomaly of the coronary ostia	oboInOwl:hasDbXref	Orphanet:542822	Anomaly of the coronary ostia	semapv:ManualMappingCuration
MONDO:0035290	atypical hemolytic uremic syndrome with complement gene abnormality	oboInOwl:hasDbXref	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality	semapv:ManualMappingCuration
MONDO:0035293	streptococcus pneumoniae-associated hemolytic uremic syndrome	oboInOwl:hasDbXref	Orphanet:544493	Streptococcus pneumoniae-associated hemolytic uremic syndrome	semapv:ManualMappingCuration
MONDO:0035295	congenital primary megaureter, refluxing and obstructed form	oboInOwl:hasDbXref	Orphanet:544578	Congenital primary megaureter, refluxing and obstructed form	semapv:ManualMappingCuration
MONDO:0035312	fibrohistiocytic inflammatory pseudotumor of the liver	oboInOwl:hasDbXref	Orphanet:555434	Fibrohistiocytic inflammatory pseudotumor of the liver	semapv:ManualMappingCuration
MONDO:0035313	lymphoplasmacytic inflammatory pseudotumor of the liver	oboInOwl:hasDbXref	Orphanet:555437	Lymphoplasmacytic inflammatory pseudotumor of the liver	semapv:ManualMappingCuration
MONDO:0035314	obsolete congenital tricuspid valve dysplasia	oboInOwl:hasDbXref	Orphanet:555874	Congenital tricuspid valve dysplasia	semapv:ManualMappingCuration
MONDO:0035320	early-onset familial hypoaldosteronism	oboInOwl:hasDbXref	Orphanet:556030	Early-onset familial hypoaldosteronism	semapv:ManualMappingCuration
MONDO:0035321	late-onset familial hypoaldosteronism	oboInOwl:hasDbXref	Orphanet:556037	Late-onset familial hypoaldosteronism	semapv:ManualMappingCuration
MONDO:0035328	obsolete rare disorder due to poisoning	oboInOwl:hasDbXref	Orphanet:556508	Rare disorder due to poisoning	semapv:ManualMappingCuration
MONDO:0035337	Duane retraction syndrome with congenital deafness	oboInOwl:hasDbXref	Orphanet:529574	Duane retraction syndrome with congenital deafness	semapv:ManualMappingCuration
MONDO:0035340	obsolete rare disorder with hirschsprung disease as a major feature	oboInOwl:hasDbXref	Orphanet:557866	Rare disorder with Hirschsprung disease as a major feature	semapv:ManualMappingCuration
MONDO:0035344	acute bilirubin encephalopathy	oboInOwl:hasDbXref	Orphanet:529799	Acute bilirubin encephalopathy	semapv:ManualMappingCuration
MONDO:0035345	chronic bilirubin encephalopathy	oboInOwl:hasDbXref	Orphanet:529808	Chronic bilirubin encephalopathy	semapv:ManualMappingCuration
MONDO:0035349	localized dystrophic epidermolysis bullosa	oboInOwl:hasDbXref	Orphanet:595356	Localized dystrophic epidermolysis bullosa	semapv:ManualMappingCuration
MONDO:0035350	letrozole toxicity	oboInOwl:hasDbXref	Orphanet:529831	Letrozole toxicity	semapv:ManualMappingCuration
MONDO:0035357	portosinusoidal vascular disease	oboInOwl:hasDbXref	Orphanet:596937	Portosinusoidal vascular disease	semapv:ManualMappingCuration
MONDO:0035362	TRIM22-related inflammatory bowel disease	oboInOwl:hasDbXref	Orphanet:597201	TRIM22-related inflammatory bowel disease	semapv:ManualMappingCuration
MONDO:0035370	ALPI-related inflammatory bowel disease	oboInOwl:hasDbXref	Orphanet:597887	ALPI-related inflammatory bowel disease	semapv:ManualMappingCuration
MONDO:0035375	multisystem inflammatory syndrome in children and adults	oboInOwl:hasDbXref	Orphanet:598363	Multisystem inflammatory syndrome in children and adults	semapv:ManualMappingCuration
MONDO:0035398	obsolete hypomyelination of early myelinating structures	oboInOwl:hasDbXref	Orphanet:599376	Hypomyelination of early myelinating structures	semapv:ManualMappingCuration
MONDO:0035400	seronegative autoimmune hepatitis	oboInOwl:hasDbXref	Orphanet:563589	Seronegative autoimmune hepatitis	semapv:ManualMappingCuration
MONDO:0035401	isolated anencephaly	oboInOwl:hasDbXref	Orphanet:563609	Isolated anencephaly	semapv:ManualMappingCuration
MONDO:0035402	isolated exencephaly	oboInOwl:hasDbXref	Orphanet:563612	Isolated exencephaly	semapv:ManualMappingCuration
MONDO:0035403	serous cystadenoma of childhood	oboInOwl:hasDbXref	Orphanet:563666	Serous cystadenoma of childhood	semapv:ManualMappingCuration
MONDO:0035404	mucinous cystadenoma of childhood	oboInOwl:hasDbXref	Orphanet:563671	Mucinous cystadenoma of childhood	semapv:ManualMappingCuration
MONDO:0035405	seromucinous cystadenoma of childhood	oboInOwl:hasDbXref	Orphanet:563676	Seromucinous cystadenoma of childhood	semapv:ManualMappingCuration
MONDO:0035406	furuncular myiasis due to Dermatobia hominis	oboInOwl:hasDbXref	Orphanet:563684	Furuncular myiasis due to Dermatobia hominis	semapv:ManualMappingCuration
MONDO:0035407	furuncular myiasis due to Cordylobia anthropophaga	oboInOwl:hasDbXref	Orphanet:563687	Furuncular myiasis due to Cordylobia anthropophaga	semapv:ManualMappingCuration
MONDO:0035408	furuncular myiasis due to Cordylobia rodhaini	oboInOwl:hasDbXref	Orphanet:563690	Furuncular myiasis due to Cordylobia rodhaini	semapv:ManualMappingCuration
MONDO:0035410	isolated congenital aglossia	oboInOwl:hasDbXref	Orphanet:563951	Isolated congenital aglossia	semapv:ManualMappingCuration
MONDO:0035411	isolated congenital hypoglossia	oboInOwl:hasDbXref	Orphanet:563954	Isolated congenital hypoglossia	semapv:ManualMappingCuration
MONDO:0035423	triglyceride deposit cardiomyovasculopathy	oboInOwl:hasDbXref	Orphanet:565612	Primary triglyceride deposit cardiomyovasculopathy	semapv:ManualMappingCuration
MONDO:0035426	obsolete rare disorder potentially indicated for transplant or complication after transplantation	oboInOwl:hasDbXref	Orphanet:565779	Rare disorder potentially indicated for transplant or complication after transplantation	semapv:ManualMappingCuration
MONDO:0035432	POMGNT2-related limb-girdle muscular dystrophy R24	oboInOwl:hasDbXref	Orphanet:565899	POMGNT2-related limb-girdle muscular dystrophy R24	semapv:ManualMappingCuration
MONDO:0035437	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	oboInOwl:hasDbXref	Orphanet:566067	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	semapv:ManualMappingCuration
MONDO:0035441	congenital autosomal recessive small-platelet thrombocytopenia	oboInOwl:hasDbXref	Orphanet:566192	Congenital autosomal recessive small-platelet thrombocytopenia	semapv:ManualMappingCuration
MONDO:0035444	acute mast cell leukemia	oboInOwl:hasDbXref	Orphanet:566393	Acute mast cell leukemia	semapv:ManualMappingCuration
MONDO:0035445	chronic mast cell leukemia	oboInOwl:hasDbXref	Orphanet:566396	Chronic mast cell leukemia	semapv:ManualMappingCuration
MONDO:0035447	liver adenomatosis	oboInOwl:hasDbXref	Orphanet:566841	Liver adenomatosis	semapv:ManualMappingCuration
MONDO:0035448	obsolete aprosencephaly/atelencephaly spectrum	oboInOwl:hasDbXref	Orphanet:566847	Aprosencephaly/atelencephaly spectrum	semapv:ManualMappingCuration
MONDO:0035449	atelencephaly	oboInOwl:hasDbXref	Orphanet:566852	Atelencephaly	semapv:ManualMappingCuration
MONDO:0035450	aprosencephaly	oboInOwl:hasDbXref	Orphanet:566857	Aprosencephaly	semapv:ManualMappingCuration
MONDO:0035451	obsolete left sided atrial isomerism	oboInOwl:hasDbXref	Orphanet:566862	Left sided atrial isomerism	semapv:ManualMappingCuration
MONDO:0035452	mueller-weiss syndrome	oboInOwl:hasDbXref	Orphanet:566943	Mueller-Weiss syndrome	semapv:ManualMappingCuration
MONDO:0035459	idiopathic multidrug-resistant nephrotic syndrome	oboInOwl:hasDbXref	Orphanet:567550	Idiopathic multidrug-resistant nephrotic syndrome	semapv:ManualMappingCuration
MONDO:0035460	idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	oboInOwl:hasDbXref	Orphanet:567552	Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	semapv:ManualMappingCuration
MONDO:0035461	obsolete systemic disease with glomerulopathy as a major feature	oboInOwl:hasDbXref	Orphanet:567554	Systemic disease with glomerulopathy as a major feature	semapv:ManualMappingCuration
MONDO:0035466	obsolete nephrotic syndrome without extrarenal manifestations	oboInOwl:hasDbXref	Orphanet:567564	Nephrotic syndrome without extrarenal manifestations	semapv:ManualMappingCuration
MONDO:0035469	obsolete primary lymphedema without systemic or visceral involvement	oboInOwl:hasDbXref	Orphanet:568041	Primary lymphedema without systemic or visceral involvement	semapv:ManualMappingCuration
MONDO:0035470	obsolete primary lymphedema with systemic or visceral involvement	oboInOwl:hasDbXref	Orphanet:568044	Primary lymphedema with systemic or visceral involvement	semapv:ManualMappingCuration
MONDO:0035471	obsolete disorder with multisystemic involvement and primary lymphedema	oboInOwl:hasDbXref	Orphanet:568047	Disorder with multisystemic involvement and primary lymphedema	semapv:ManualMappingCuration
MONDO:0035472	GJC2-related late-onset primary lymphedema	oboInOwl:hasDbXref	Orphanet:568051	GJC2-related late-onset primary lymphedema	semapv:ManualMappingCuration
MONDO:0035473	warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	oboInOwl:hasDbXref	Orphanet:568056	Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0035475	EPHB4-related lymphatic-related hydrops fetalis	oboInOwl:hasDbXref	Orphanet:568065	EPHB4-related lymphatic-related hydrops fetalis	semapv:ManualMappingCuration
MONDO:0035499	CELSR1-related late-onset primary lymphedema	oboInOwl:hasDbXref	Orphanet:569816	CELSR1-related late-onset primary lymphedema	semapv:ManualMappingCuration
MONDO:0035500	congenital primary lymphedema of Gordon	oboInOwl:hasDbXref	Orphanet:569821	Congenital primary lymphedema of Gordon	semapv:ManualMappingCuration
MONDO:0035511	ricin poisoning	oboInOwl:hasDbXref	Orphanet:570470	Ricin poisoning	semapv:ManualMappingCuration
MONDO:0035521	blepharophimosis-ptosis-epicanthus inversus syndrome plus	oboInOwl:hasDbXref	Orphanet:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	semapv:ManualMappingCuration
MONDO:0035524	blepharophimosis-ptosis-epicanthus inversus syndrome type 1	oboInOwl:hasDbXref	Orphanet:572354	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	semapv:ManualMappingCuration
MONDO:0035525	blepharophimosis-ptosis-epicanthus inversus syndrome type 2	oboInOwl:hasDbXref	Orphanet:572361	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	semapv:ManualMappingCuration
MONDO:0035529	infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	oboInOwl:hasDbXref	Orphanet:572428	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	semapv:ManualMappingCuration
MONDO:0035534	DONSON-related microcephaly-short stature-limb abnormalities spectrum	oboInOwl:hasDbXref	Orphanet:572761	DONSON-related microcephaly-short stature-limb abnormalities spectrum	semapv:ManualMappingCuration
MONDO:0035540	pheochromocytoma-paraganglioma	oboInOwl:hasDbXref	Orphanet:573163	Pheochromocytoma-paraganglioma	semapv:ManualMappingCuration
MONDO:0035541	obsolete split cord malformation type II	oboInOwl:hasDbXref	Orphanet:573253	Split cord malformation type II	semapv:ManualMappingCuration
MONDO:0035542	obsolete split cord malformation	oboInOwl:hasDbXref	Orphanet:573278	Split cord malformation	semapv:ManualMappingCuration
MONDO:0035548	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	oboInOwl:hasDbXref	Orphanet:574957	Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency	semapv:ManualMappingCuration
MONDO:0035551	cathepsin a-related arteriopathy-strokes-leukoencephalopathy	oboInOwl:hasDbXref	Orphanet:575553	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0035554	obsolete complete atrioventricular septal defect without ventricular hypoplasia	oboInOwl:hasDbXref	Orphanet:576227	Complete atrioventricular septal defect without ventricular hypoplasia	semapv:ManualMappingCuration
MONDO:0035555	obsolete partial atrioventricular septal defect with ventricular hypoplasia	oboInOwl:hasDbXref	Orphanet:576232	Partial atrioventricular septal defect with ventricular hypoplasia	semapv:ManualMappingCuration
MONDO:0035556	obsolete partial atrioventricular septal defect without ventricular hypoplasia	oboInOwl:hasDbXref	Orphanet:576235	Partial atrioventricular septal defect without ventricular hypoplasia	semapv:ManualMappingCuration
MONDO:0035557	obsolete intermediate atrioventricular septal defect	oboInOwl:hasDbXref	Orphanet:576242	Intermediate atrioventricular septal defect	semapv:ManualMappingCuration
MONDO:0035561	obsolete sporadic human prion disease	oboInOwl:hasDbXref	Orphanet:576356	Sporadic human prion disease	semapv:ManualMappingCuration
MONDO:0035562	acquired human prion disease	oboInOwl:hasDbXref	Orphanet:576360	Acquired human prion disease	semapv:ManualMappingCuration
MONDO:0035581	obsolete lethal brain and heart developmental defects	oboInOwl:hasDbXref	Orphanet:580933	Lethal brain and heart developmental defects	semapv:ManualMappingCuration
MONDO:0035584	punctate inner choroidopathy	oboInOwl:hasDbXref	Orphanet:580951	Punctate inner choroidopathy	semapv:ManualMappingCuration
MONDO:0035586	Cramp-fasciculation syndrome	oboInOwl:hasDbXref	Orphanet:581271	Cramp-fasciculation syndrome	semapv:ManualMappingCuration
MONDO:0035592	congenital infiltrating lipomatosis of the face	oboInOwl:hasDbXref	Orphanet:583097	Congenital infiltrating lipomatosis of the face	semapv:ManualMappingCuration
MONDO:0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	oboInOwl:hasDbXref	Orphanet:585877	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	semapv:ManualMappingCuration
MONDO:0035614	sporadic fatal insomnia	oboInOwl:hasDbXref	Orphanet:586130	Sporadic fatal insomnia	semapv:ManualMappingCuration
MONDO:0035639	mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	oboInOwl:hasDbXref	Orphanet:589534	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	semapv:ManualMappingCuration
MONDO:0035642	mixed phenotype acute leukemia with t(v;11q23.3)	oboInOwl:hasDbXref	Orphanet:589595	Mixed phenotype acute leukemia with t(v;11q23.3)	semapv:ManualMappingCuration
MONDO:0035645	obsolete inherited gynecological cancer-predisposing syndrome	oboInOwl:hasDbXref	Orphanet:589746	Inherited gynecological cancer-predisposing syndrome	semapv:ManualMappingCuration
MONDO:0035646	congenital-onset Steinert myotonic dystrophy	oboInOwl:hasDbXref	Orphanet:589821	Congenital-onset Steinert myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0035647	childhood-onset Steinert myotonic dystrophy	oboInOwl:hasDbXref	Orphanet:589824	Childhood-onset Steinert myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0035648	juvenile-onset Steinert myotonic dystrophy	oboInOwl:hasDbXref	Orphanet:589827	Juvenile-onset Steinert myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0035649	adult-onset Steinert myotonic dystrophy	oboInOwl:hasDbXref	Orphanet:589830	Adult-onset Steinert myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0035650	late-onset Steinert myotonic dystrophy	oboInOwl:hasDbXref	Orphanet:589833	Late-onset Steinert myotonic dystrophy	semapv:ManualMappingCuration
MONDO:0035651	choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	oboInOwl:hasDbXref	Orphanet:589856	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	semapv:ManualMappingCuration
MONDO:0035660	GNAO1-related developmental delay-seizures-movement disorder spectrum	oboInOwl:hasDbXref	Orphanet:592564	GNAO1-related developmental delay-seizures-movement disorder spectrum	semapv:ManualMappingCuration
MONDO:0035661	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	oboInOwl:hasDbXref	Orphanet:592570	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	semapv:ManualMappingCuration
MONDO:0035663	neuromyelitis optica spectrum disorder with anti-AQP4 antibodies	oboInOwl:hasDbXref	Orphanet:592850	Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies	semapv:ManualMappingCuration
MONDO:0035664	neuromyelitis optica spectrum disorder with anti-MOG antibodies	oboInOwl:hasDbXref	Orphanet:592856	Neuromyelitis optica spectrum disorder with anti-MOG antibodies	semapv:ManualMappingCuration
MONDO:0035665	neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies	oboInOwl:hasDbXref	Orphanet:592869	Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies	semapv:ManualMappingCuration
MONDO:0035666	acute transverse myelitis with anti-MOG antibodies	oboInOwl:hasDbXref	Orphanet:592873	Acute transverse myelitis with anti-MOG antibodies	semapv:ManualMappingCuration
MONDO:0035667	isolated optic neuritis without anti-MOG antibodies	oboInOwl:hasDbXref	Orphanet:592885	OBSOLETE: Isolated optic neuritis without anti-MOG antibodies	semapv:ManualMappingCuration
MONDO:0035668	isolated optic neuritis with anti-MOG antibodies	oboInOwl:hasDbXref	Orphanet:592888	OBSOLETE: Isolated optic neuritis with anti-MOG antibodies	semapv:ManualMappingCuration
MONDO:0035669	acute disseminated encephalomyelitis with anti-MOG antibodies	oboInOwl:hasDbXref	Orphanet:592894	Acute disseminated encephalomyelitis with anti-MOG antibodies	semapv:ManualMappingCuration
MONDO:0035670	acute disseminated encephalomyelitis without anti-MOG antibodies	oboInOwl:hasDbXref	Orphanet:592900	Acute disseminated encephalomyelitis without anti-MOG antibodies	semapv:ManualMappingCuration
MONDO:0035678	Timothy syndrome type 1	oboInOwl:hasDbXref	Orphanet:595098	Timothy syndrome type 1	semapv:ManualMappingCuration
MONDO:0035679	Timothy syndrome type 2	oboInOwl:hasDbXref	Orphanet:595105	Timothy syndrome type 2	semapv:ManualMappingCuration
MONDO:0035682	obsolete fibrous dysplasia/McCune-Albright syndrome	oboInOwl:hasDbXref	Orphanet:595216	Fibrous dysplasia/McCune-Albright syndrome	semapv:ManualMappingCuration
MONDO:0035683	obsolete adrenal hypoplasia congenita	oboInOwl:hasDbXref	Orphanet:595337	Adrenal hypoplasia congenita	semapv:ManualMappingCuration
MONDO:0035684	obsolete epidermolysis bullosa simplex without extracutaneous involvement	oboInOwl:hasDbXref	Orphanet:595346	Epidermolysis bullosa simplex without extracutaneous involvement	semapv:ManualMappingCuration
MONDO:0035685	obsolete epidermolysis bullosa simplex with extracutaneous involvement	oboInOwl:hasDbXref	Orphanet:595351	Epidermolysis bullosa simplex with extracutaneous involvement	semapv:ManualMappingCuration
MONDO:0035689	obsolete syndrome of reduced sensitivity to thyroid hormone	oboInOwl:hasDbXref	Orphanet:596426	Syndrome of reduced sensitivity to thyroid hormone	semapv:ManualMappingCuration
MONDO:0035694	combined immunodeficiency due to RELA haploinsufficiency	oboInOwl:hasDbXref	Orphanet:596759	Combined immunodeficiency due to RELA haploinsufficiency	semapv:ManualMappingCuration
MONDO:0035696	incomplete septal cirrhosis	oboInOwl:hasDbXref	Orphanet:596941	Incomplete septal cirrhosis	semapv:ManualMappingCuration
MONDO:0035706	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:597743	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0035707	blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome	oboInOwl:hasDbXref	Orphanet:597746	Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome	semapv:ManualMappingCuration
MONDO:0035734	hereditary angioedema with normal C1inh not related to F12 or PLG variant	oboInOwl:hasDbXref	Orphanet:599418	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant	semapv:ManualMappingCuration
MONDO:0035735	acquired hemophilia A	oboInOwl:hasDbXref	Orphanet:599480	Acquired hemophilia A	semapv:ManualMappingCuration
MONDO:0035736	acquired hemophilia B	oboInOwl:hasDbXref	Orphanet:599485	Acquired hemophilia B	semapv:ManualMappingCuration
MONDO:0035737	acquired factor V deficiency	oboInOwl:hasDbXref	Orphanet:599490	Acquired factor V deficiency	semapv:ManualMappingCuration
MONDO:0035738	acquired factor VII deficiency	oboInOwl:hasDbXref	Orphanet:599495	Acquired factor VII deficiency	semapv:ManualMappingCuration
MONDO:0035740	acquired factor XI deficiency	oboInOwl:hasDbXref	Orphanet:599507	Acquired factor XI deficiency	semapv:ManualMappingCuration
MONDO:0035742	factor V short isoforms-related bleeding disorder	oboInOwl:hasDbXref	Orphanet:599519	Factor V short isoforms-related bleeding disorder	semapv:ManualMappingCuration
MONDO:0035743	factor V amsterdam bleeding disorder	oboInOwl:hasDbXref	Orphanet:599579	Factor V Amsterdam bleeding disorder	semapv:ManualMappingCuration
MONDO:0035759	factor V atlanta bleeding disorder	oboInOwl:hasDbXref	Orphanet:600194	Factor V Atlanta bleeding disorder	semapv:ManualMappingCuration
MONDO:0035763	idiopathic non-lupus full-house nephropathy	oboInOwl:hasDbXref	Orphanet:567544	Idiopathic non-lupus full-house nephropathy	semapv:ManualMappingCuration
MONDO:0035764	idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	oboInOwl:hasDbXref	Orphanet:567546	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	semapv:ManualMappingCuration
MONDO:0035774	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	oboInOwl:hasDbXref	Orphanet:600663	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	semapv:ManualMappingCuration
MONDO:0035775	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:600668	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0035776	combined deficiency of factor VII and factor X	oboInOwl:hasDbXref	Orphanet:600691	Combined deficiency of factor VII and factor X	semapv:ManualMappingCuration
MONDO:0035777	parenteral nutrition-associated cholestasis	oboInOwl:hasDbXref	Orphanet:567983	Parenteral nutrition-associated cholestasis	semapv:ManualMappingCuration
MONDO:0035780	obsolete non-syndromic anorectal malformation with perineal fistula	oboInOwl:hasDbXref	Orphanet:600952	Non-syndromic anorectal malformation with perineal fistula	semapv:ManualMappingCuration
MONDO:0035781	obsolete non-syndromic anorectal malformation with rectourethral fistula	oboInOwl:hasDbXref	Orphanet:600961	Non-syndromic anorectal malformation with rectourethral fistula	semapv:ManualMappingCuration
MONDO:0035782	non-syndromic anorectal malformation with rectourethral fistula, bulbar type	oboInOwl:hasDbXref	Orphanet:600966	Non-syndromic anorectal malformation with rectourethral fistula, bulbar type	semapv:ManualMappingCuration
MONDO:0035783	non-syndromic anorectal malformation with rectourethral fistula, prostatic type	oboInOwl:hasDbXref	Orphanet:600975	Non-syndromic anorectal malformation with rectourethral fistula, prostatic type	semapv:ManualMappingCuration
MONDO:0035784	obsolete non-syndromic anorectal malformation with rectovesical fistula	oboInOwl:hasDbXref	Orphanet:600984	Non-syndromic anorectal malformation with rectovesical fistula	semapv:ManualMappingCuration
MONDO:0035785	obsolete non-syndromic anorectal malformation with vestibular fistula	oboInOwl:hasDbXref	Orphanet:600993	Non-syndromic anorectal malformation with vestibular fistula	semapv:ManualMappingCuration
MONDO:0035786	obsolete non-syndromic cloacal malformation	oboInOwl:hasDbXref	Orphanet:600998	Non-syndromic cloacal malformation	semapv:ManualMappingCuration
MONDO:0035787	obsolete non-syndromic anorectal malformation without fistula	oboInOwl:hasDbXref	Orphanet:601002	Non-syndromic anorectal malformation without fistula	semapv:ManualMappingCuration
MONDO:0035788	obsolete non-syndromic anorectal malformation with anal stenosis	oboInOwl:hasDbXref	Orphanet:601008	Non-syndromic anorectal malformation with anal stenosis	semapv:ManualMappingCuration
MONDO:0035789	obsolete non-syndromic anorectal malformation with pouch colon	oboInOwl:hasDbXref	Orphanet:601013	Non-syndromic anorectal malformation with pouch colon	semapv:ManualMappingCuration
MONDO:0035790	obsolete non-syndromic anorectal malformation with rectal atresia	oboInOwl:hasDbXref	Orphanet:601018	Non-syndromic anorectal malformation with rectal atresia	semapv:ManualMappingCuration
MONDO:0035791	obsolete non-syndromic anorectal malformation with rectal stenosis	oboInOwl:hasDbXref	Orphanet:601023	Non-syndromic anorectal malformation with rectal stenosis	semapv:ManualMappingCuration
MONDO:0035792	obsolete non-syndromic anorectal malformation with rectovaginal fistula	oboInOwl:hasDbXref	Orphanet:601028	Non-syndromic anorectal malformation with rectovaginal fistula	semapv:ManualMappingCuration
MONDO:0035793	obsolete non-syndromic anorectal malformation with h-type fistula	oboInOwl:hasDbXref	Orphanet:601033	Non-syndromic anorectal malformation with H-type fistula	semapv:ManualMappingCuration
MONDO:0035819	cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	oboInOwl:hasDbXref	Orphanet:603448	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	semapv:ManualMappingCuration
MONDO:0035821	isolated female hypospadias	oboInOwl:hasDbXref	Orphanet:603515	Isolated female hypospadias	semapv:ManualMappingCuration
MONDO:0035823	KLHL7-related Bohring-Opitz-like syndrome	oboInOwl:hasDbXref	Orphanet:603689	KLHL7-related Bohring-Opitz-like syndrome	semapv:ManualMappingCuration
MONDO:0035824	KLHL7-related cold-induced sweating-like syndrome	oboInOwl:hasDbXref	Orphanet:603694	KLHL7-related Crisponi/cold-induced sweating-like syndrome	semapv:ManualMappingCuration
MONDO:0035826	symptomatic form of X-linked centronuclear myopathy in female carriers	oboInOwl:hasDbXref	Orphanet:604680	Symptomatic form of X-linked centronuclear myopathy in female carriers	semapv:ManualMappingCuration
MONDO:0035838	idiopathic multicentric Castleman disease	oboInOwl:hasDbXref	Orphanet:570431	Idiopathic multicentric Castleman disease	semapv:ManualMappingCuration
MONDO:0035862	obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome	oboInOwl:hasDbXref	Orphanet:611314	Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome	semapv:ManualMappingCuration
MONDO:0035863	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability	oboInOwl:hasDbXref	Orphanet:611327	Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability	semapv:ManualMappingCuration
MONDO:0035875	ivermectin toxicity	oboInOwl:hasDbXref	Orphanet:574637		semapv:ManualMappingCuration
MONDO:0035876	belinostat toxicity or dose selection	oboInOwl:hasDbXref	Orphanet:574671		semapv:ManualMappingCuration
MONDO:0035879	granuloma faciale	oboInOwl:hasDbXref	Orphanet:615943	Granuloma faciale	semapv:ManualMappingCuration
MONDO:0035882	chronic intervillositis of unknown etiology	oboInOwl:hasDbXref	Orphanet:615970	Chronic intervillositis of unknown etiology	semapv:ManualMappingCuration
MONDO:0035892	Mills syndrome	oboInOwl:hasDbXref	Orphanet:94091	Mills syndrome	semapv:ManualMappingCuration
MONDO:0035930	neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency	oboInOwl:hasDbXref	Orphanet:583612	Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency	semapv:ManualMappingCuration
MONDO:0035940	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	oboInOwl:hasDbXref	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	semapv:ManualMappingCuration
MONDO:0035941	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)	oboInOwl:hasDbXref	Orphanet:585918	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)	semapv:ManualMappingCuration
MONDO:0035942	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)	oboInOwl:hasDbXref	Orphanet:585929	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)	semapv:ManualMappingCuration
MONDO:0035943	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	oboInOwl:hasDbXref	Orphanet:585936	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	semapv:ManualMappingCuration
MONDO:0035944	B-lymphoblastic leukemia/lymphoma with hypodiploidy	oboInOwl:hasDbXref	Orphanet:585942	B-lymphoblastic leukemia/lymphoma with hypodiploidy	semapv:ManualMappingCuration
MONDO:0035945	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)	oboInOwl:hasDbXref	Orphanet:585948	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)	semapv:ManualMappingCuration
MONDO:0036025	toxicity to dolutegravir	oboInOwl:hasDbXref	Orphanet:596744		semapv:ManualMappingCuration
MONDO:0036042	KAT6B-related multiple congenital anomalies syndrome	oboInOwl:hasDbXref	Orphanet:597749	KAT6B-related multiple congenital anomalies syndrome	semapv:ManualMappingCuration
MONDO:0036045	euthyroid dysprealbuminemic hyperthyroxinemia	oboInOwl:hasDbXref	Orphanet:597939	Euthyroid dysprealbuminemic hyperthyroxinemia	semapv:ManualMappingCuration
MONDO:0036189	oculogastrointestinal-neurodevelopmental syndrome	oboInOwl:hasDbXref	Orphanet:611201	Oculogastrointestinal-neurodevelopmental syndrome	semapv:ManualMappingCuration
MONDO:0036193	parkinsonism with polyneuropathy	oboInOwl:hasDbXref	Orphanet:611237	Parkinsonism with polyneuropathy	semapv:ManualMappingCuration
MONDO:0036212	spastic paraparesis-cataracts-speech delay syndrome	oboInOwl:hasDbXref	Orphanet:615938	Spastic paraparesis-cataracts-speech delay syndrome	semapv:ManualMappingCuration
MONDO:0036217	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:615983	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0036218	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster	oboInOwl:hasDbXref	Orphanet:615986	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster	semapv:ManualMappingCuration
MONDO:0036918	punctate acrokeratoderma freckle-like pigmentation	oboInOwl:hasDbXref	Orphanet:99710	Punctate acrokeratoderma freckle-like pigmentation	semapv:ManualMappingCuration
MONDO:0037149	HSD10 disease, atypical type	oboInOwl:hasDbXref	Orphanet:85295	HSD10 disease, atypical type	semapv:ManualMappingCuration
MONDO:0037398	pneumonia caused by pseudomonas aeruginosa infection	oboInOwl:hasDbXref	Orphanet:90066	Pneumonia caused by Pseudomonas aeruginosa infection	semapv:ManualMappingCuration
MONDO:0037716	obsolete rare genetic deafness	oboInOwl:hasDbXref	Orphanet:96210	Rare genetic deafness	semapv:ManualMappingCuration
MONDO:0037860	obsolete rare systemic or rheumatologic disease	oboInOwl:hasDbXref	Orphanet:98023	Rare systemic or rheumatologic disease	semapv:ManualMappingCuration
MONDO:0038261	obsolete genetic neurological channelopathy of the central nervous system	oboInOwl:hasDbXref	Orphanet:98743	Genetic neurological channelopathy of the central nervous system	semapv:ManualMappingCuration
MONDO:0038268	obsolete autoimmune neurological channelopathy	oboInOwl:hasDbXref	Orphanet:98750	Autoimmune neurological channelopathy	semapv:ManualMappingCuration
MONDO:0040671	class V glucose-6-phosphate dehydrogenase deficiency	oboInOwl:hasDbXref	Orphanet:362	NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency	semapv:ManualMappingCuration
MONDO:0041052	postherpetic neuralgia	oboInOwl:hasDbXref	Orphanet:466673	NON RARE IN EUROPE: Post-herpetic neuralgia	semapv:ManualMappingCuration
MONDO:0041186	Rowell syndrome	oboInOwl:hasDbXref	Orphanet:658584	Rowell syndrome	semapv:ManualMappingCuration
MONDO:0042727	sacrococcygeal teratoma	oboInOwl:hasDbXref	Orphanet:494421	Sacrococcygeal teratoma	semapv:ManualMappingCuration
MONDO:0043005	obsolete genetic multiple congenital anomalies/dysmorphic syndrome	oboInOwl:hasDbXref	Orphanet:183533	Genetic multiple congenital anomalies/dysmorphic syndrome	semapv:ManualMappingCuration
MONDO:0043007	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:330197	OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0043008	obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	oboInOwl:hasDbXref	Orphanet:330206	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	semapv:ManualMappingCuration
MONDO:0043009	hereditary lethal multiple congenital anomalies/dysmorphic syndrome	oboInOwl:hasDbXref	Orphanet:471383	Genetic lethal multiple congenital anomalies/dysmorphic syndrome	semapv:ManualMappingCuration
MONDO:0043096	holoacardius amorphus	oboInOwl:hasDbXref	Orphanet:2161	OBSOLETE: Holoacardius amorphus	semapv:ManualMappingCuration
MONDO:0043108	infantile striato thalamic degeneration	oboInOwl:hasDbXref	Orphanet:1575	OBSOLETE: Infantile striatothalamic degeneration	semapv:ManualMappingCuration
MONDO:0043143	microphthalmia microtia fetal akinesia	oboInOwl:hasDbXref	Orphanet:2547	Microphthalmia-microtia-fetal akinesia syndrome	semapv:ManualMappingCuration
MONDO:0043164	palmer pagon syndrome	oboInOwl:hasDbXref	Orphanet:2184	Hydrocephaly-low insertion umbilicus syndrome	semapv:ManualMappingCuration
MONDO:0043257	pemphigus and fogo selvagem	oboInOwl:hasDbXref	Orphanet:636955	Endemic pemphigus foliaceus	semapv:ManualMappingCuration
MONDO:0043317	amyopathic dermatomyositis	oboInOwl:hasDbXref	Orphanet:645617	Amyopathic dermatomyositis	semapv:ManualMappingCuration
MONDO:0043330	Mirizzi syndrome	oboInOwl:hasDbXref	Orphanet:521219	Mirizzi syndrome	semapv:ManualMappingCuration
MONDO:0043349	intravascular papillary endothelial hyperplasia	oboInOwl:hasDbXref	Orphanet:673525	Intravascular papillary endothelial hyperplasia	semapv:ManualMappingCuration
MONDO:0043361	May-Thurner syndrome	oboInOwl:hasDbXref	Orphanet:675404	May-Thurner syndrome	semapv:ManualMappingCuration
MONDO:0043373	sudden sensorineural hearing loss	oboInOwl:hasDbXref	Orphanet:90059	Sudden sensorineural hearing loss	semapv:ManualMappingCuration
MONDO:0043459	radiation-induced disorder	oboInOwl:hasDbXref	Orphanet:521132	Radiation-induced disorder	semapv:ManualMappingCuration
MONDO:0043537	cluster headache syndrome	oboInOwl:hasDbXref	Orphanet:1002	NON RARE IN EUROPE: Cluster headache	semapv:ManualMappingCuration
MONDO:0043797	spinal cord injury	oboInOwl:hasDbXref	Orphanet:90058	Spinal cord injury	semapv:ManualMappingCuration
MONDO:0044067	candidiasis, invasive	oboInOwl:hasDbXref	Orphanet:636945	Invasive candidiasis	semapv:ManualMappingCuration
MONDO:0044113	bullous systemic lupus erythematosus	oboInOwl:hasDbXref	Orphanet:46489	OBSOLETE: Bullous systemic lupus erythematosus	semapv:ManualMappingCuration
MONDO:0044200	T-B+ severe combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:317416	T-B+ severe combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0044201	T+ B+ severe combined immunodeficiency	oboInOwl:hasDbXref	Orphanet:397802	T+ B+ severe combined immunodeficiency	semapv:ManualMappingCuration
MONDO:0044202	episodic kinesigenic dyskinesia	oboInOwl:hasDbXref	Orphanet:98809	Paroxysmal kinesigenic dyskinesia	semapv:ManualMappingCuration
MONDO:0044300	familial adenomatous polyposis 4	oboInOwl:hasDbXref	Orphanet:480536	MSH3-related attenuated familial adenomatous polyposis	semapv:ManualMappingCuration
MONDO:0044302	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	oboInOwl:hasDbXref	Orphanet:646278	CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome	semapv:ManualMappingCuration
MONDO:0044304	hyperphenylalaninemia due to DNAJC12 deficiency	oboInOwl:hasDbXref	Orphanet:508523	Hyperphenylalaninemia due to DNAJC12 deficiency	semapv:ManualMappingCuration
MONDO:0044306	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	oboInOwl:hasDbXref	Orphanet:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	semapv:ManualMappingCuration
MONDO:0044318	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	oboInOwl:hasDbXref	Orphanet:653767	Jansen-de Vries syndrome	semapv:ManualMappingCuration
MONDO:0044319	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	oboInOwl:hasDbXref	Orphanet:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0044323	Rahman syndrome	oboInOwl:hasDbXref	Orphanet:642763	Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation	semapv:ManualMappingCuration
MONDO:0044331	obsolete genetic transient congenital hypothyroidism	oboInOwl:hasDbXref	Orphanet:226316	Genetic transient congenital hypothyroidism	semapv:ManualMappingCuration
MONDO:0044332	childhood-onset benign chorea with striatal involvement	oboInOwl:hasDbXref	Orphanet:494541	Childhood-onset benign chorea with striatal involvement	semapv:ManualMappingCuration
MONDO:0044355	isolated sternocostoclavicular hyperostosis	oboInOwl:hasDbXref	Orphanet:178311	Isolated sternocostoclavicular hyperostosis	semapv:ManualMappingCuration
MONDO:0044406	arthrogryposis-ectodermal dysplasia-other anomalies syndrome	oboInOwl:hasDbXref	Orphanet:3200	Arthrogryposis-ectodermal dysplasia syndrome	semapv:ManualMappingCuration
MONDO:0044617	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	oboInOwl:hasDbXref	Orphanet:482606	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	semapv:ManualMappingCuration
MONDO:0044619	propylthiouracil embryofetopathy	oboInOwl:hasDbXref	Orphanet:485358	Propylthiouracil embryofetopathy	semapv:ManualMappingCuration
MONDO:0044621	16p12.1p12.3 triplication syndrome	oboInOwl:hasDbXref	Orphanet:485405	16p12.1p12.3 triplication syndrome	semapv:ManualMappingCuration
MONDO:0044622	EMILIN-1-related connective tissue disease	oboInOwl:hasDbXref	Orphanet:485418	EMILIN-1-related connective tissue disease	semapv:ManualMappingCuration
MONDO:0044624	pediatric collagenous gastritis	oboInOwl:hasDbXref	Orphanet:487809	Pediatric collagenous gastritis	semapv:ManualMappingCuration
MONDO:0044625	autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation	oboInOwl:hasDbXref	Orphanet:487814	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	semapv:ManualMappingCuration
MONDO:0044626	female infertility due to oocyte meiotic arrest	oboInOwl:hasDbXref	Orphanet:488191	Female infertility due to oocyte meiotic arrest	semapv:ManualMappingCuration
MONDO:0044627	acute macular neuroretinopathy	oboInOwl:hasDbXref	Orphanet:488239	Acute macular neuroretinopathy	semapv:ManualMappingCuration
MONDO:0044628	six2-related frontonasal dysplasia	oboInOwl:hasDbXref	Orphanet:488437	SIX2-related frontonasal dysplasia	semapv:ManualMappingCuration
MONDO:0044629	congenital amyoplasia	oboInOwl:hasDbXref	Orphanet:488586	Congenital amyoplasia	semapv:ManualMappingCuration
MONDO:0044631	early-onset familial noncirrhotic portal hypertension	oboInOwl:hasDbXref	Orphanet:494348	Early-onset familial noncirrhotic portal hypertension	semapv:ManualMappingCuration
MONDO:0044632	extracranial carotid artery aneurysm	oboInOwl:hasDbXref	Orphanet:494424	Extracranial carotid artery aneurysm	semapv:ManualMappingCuration
MONDO:0044633	idiopathic pleuroparenchymal fibroelastosis	oboInOwl:hasDbXref	Orphanet:494428	Idiopathic pleuroparenchymal fibroelastosis	semapv:ManualMappingCuration
MONDO:0044634	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:494439	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0044635	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	oboInOwl:hasDbXref	Orphanet:494444	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	semapv:ManualMappingCuration
MONDO:0044636	obsolete rare hyperkinetic movement disorder	oboInOwl:hasDbXref	Orphanet:494457	Rare hyperkinetic movement disorder	semapv:ManualMappingCuration
MONDO:0044637	infantile-onset generalized dyskinesia with orofacial involvement	oboInOwl:hasDbXref	Orphanet:494526	Infantile-onset generalized dyskinesia with orofacial involvement	semapv:ManualMappingCuration
MONDO:0044638	hypopharynx squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:494547	Squamous cell carcinoma of the hypopharynx	semapv:ManualMappingCuration
MONDO:0044640	Charcot-Marie-Tooth disease type 2T	oboInOwl:hasDbXref	Orphanet:495274	Charcot-Marie-Tooth disease type 2T	semapv:ManualMappingCuration
MONDO:0044641	9q33.3q34.11 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:495818	9q33.3q34.11 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0044642	c11orf73-related autosomal recessive hypomyelinating leukodystrophy	oboInOwl:hasDbXref	Orphanet:495844	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	semapv:ManualMappingCuration
MONDO:0044643	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:495875	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0044644	congenital agenesis of the scrotum	oboInOwl:hasDbXref	Orphanet:495879	Congenital agenesis of the scrotum	semapv:ManualMappingCuration
MONDO:0044645	familial monosomy 7 syndrome	oboInOwl:hasDbXref	Orphanet:495930	Familial monosomy 7 syndrome	semapv:ManualMappingCuration
MONDO:0044646	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	oboInOwl:hasDbXref	Orphanet:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	semapv:ManualMappingCuration
MONDO:0044647	kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	oboInOwl:hasDbXref	Orphanet:496686	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	semapv:ManualMappingCuration
MONDO:0044648	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	oboInOwl:hasDbXref	Orphanet:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	semapv:ManualMappingCuration
MONDO:0044649	omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	oboInOwl:hasDbXref	Orphanet:496693	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	semapv:ManualMappingCuration
MONDO:0044651	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	oboInOwl:hasDbXref	Orphanet:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	semapv:ManualMappingCuration
MONDO:0044655	obsolete c12orf65-related combined oxidative phosphorylation defect	oboInOwl:hasDbXref	Orphanet:497623	C12ORF65-related combined oxidative phosphorylation defect	semapv:ManualMappingCuration
MONDO:0044656	epidermolytic nevus	oboInOwl:hasDbXref	Orphanet:497737	Epidermolytic nevus	semapv:ManualMappingCuration
MONDO:0044657	MME-related autosomal dominant Charcot Marie Tooth disease type 2	oboInOwl:hasDbXref	Orphanet:497757	MME-related autosomal dominant Charcot Marie Tooth disease type 2	semapv:ManualMappingCuration
MONDO:0044660	menstrual cycle-dependent periodic fever	oboInOwl:hasDbXref	Orphanet:498251	Menstrual cycle-dependent periodic fever	semapv:ManualMappingCuration
MONDO:0044663	aquagenic palmoplantar keratoderma	oboInOwl:hasDbXref	Orphanet:498359	Aquagenic palmoplantar keratoderma	semapv:ManualMappingCuration
MONDO:0044675	LRP5-related primary osteoporosis	oboInOwl:hasDbXref	Orphanet:498481	LRP5-related primary osteoporosis	semapv:ManualMappingCuration
MONDO:0044682	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	oboInOwl:hasDbXref	Orphanet:498693	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	semapv:ManualMappingCuration
MONDO:0044683	obsolete limbic encephalitis with neurexin-3 antibodies	oboInOwl:hasDbXref	Orphanet:498700	OBSOLETE: Limbic encephalitis with neurexin-3 antibodies	semapv:ManualMappingCuration
MONDO:0044685	autoimmune/inflammatory optic neuropathy	oboInOwl:hasDbXref	Orphanet:499047	Autoimmune/inflammatory optic neuropathy	semapv:ManualMappingCuration
MONDO:0044687	chronic relapsing inflammatory optic neuropathy	oboInOwl:hasDbXref	Orphanet:499085	Chronic relapsing inflammatory optic neuritis	semapv:ManualMappingCuration
MONDO:0044688	isolated optic neuritis	oboInOwl:hasDbXref	Orphanet:499096	Isolated optic neuritis	semapv:ManualMappingCuration
MONDO:0044689	recurrent idiopathic neuroretinitis	oboInOwl:hasDbXref	Orphanet:499103	Recurrent idiopathic neuroretinitis	semapv:ManualMappingCuration
MONDO:0044690	optic perineuritis	oboInOwl:hasDbXref	Orphanet:499107	Idiopathic optic perineuritis	semapv:ManualMappingCuration
MONDO:0044696	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	oboInOwl:hasDbXref	Orphanet:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	semapv:ManualMappingCuration
MONDO:0044699	SIN3A-related intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:500163	Witteveen-Kolk syndrome	semapv:ManualMappingCuration
MONDO:0044700	SIN3A-related intellectual disability syndrome due to a point mutation	oboInOwl:hasDbXref	Orphanet:500166	SIN3-related intellectual disability syndrome due to a point mutation	semapv:ManualMappingCuration
MONDO:0044701	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	oboInOwl:hasDbXref	Orphanet:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	semapv:ManualMappingCuration
MONDO:0044702	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:500188	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0044704	oropharynx squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:500478	Squamous cell carcinoma of the oropharynx	semapv:ManualMappingCuration
MONDO:0044705	paranasal sinus squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:500464	Squamous cell carcinoma of the nasal cavity and paranasal sinuses	semapv:ManualMappingCuration
MONDO:0044709	cochleovestibular dysplasia	oboInOwl:hasDbXref	Orphanet:502305	Cochleovestibular malformation	semapv:ManualMappingCuration
MONDO:0044710	lip and oral cavity squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:502369	Squamous cell carcinoma of oral cavity and lip	semapv:ManualMappingCuration
MONDO:0044714	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	oboInOwl:hasDbXref	Orphanet:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	semapv:ManualMappingCuration
MONDO:0044717	4q25 proximal deletion syndrome	oboInOwl:hasDbXref	Orphanet:502437	4q25 proximal deletion syndrome	semapv:ManualMappingCuration
MONDO:0044718	alkaline ceramidase 3 deficiency	oboInOwl:hasDbXref	Orphanet:502444	Alkaline ceramidase 3 deficiency	semapv:ManualMappingCuration
MONDO:0044719	erythema multiforme major	oboInOwl:hasDbXref	Orphanet:502499	Erythema multiforme major	semapv:ManualMappingCuration
MONDO:0044720	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	oboInOwl:hasDbXref	Orphanet:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	semapv:ManualMappingCuration
MONDO:0044721	severe combined immunodeficiency due to LAT deficiency	oboInOwl:hasDbXref	Orphanet:504523	Severe combined immunodeficiency due to LAT deficiency	semapv:ManualMappingCuration
MONDO:0044723	3-methylglutaconic aciduria type 8	oboInOwl:hasDbXref	Orphanet:505208	3-methylglutaconic aciduria type 8	semapv:ManualMappingCuration
MONDO:0044724	3-methylglutaconic aciduria type 9	oboInOwl:hasDbXref	Orphanet:505216	3-methylglutaconic aciduria type 9	semapv:ManualMappingCuration
MONDO:0044725	combined immunodeficiency due to GINS1 deficiency	oboInOwl:hasDbXref	Orphanet:505227	Combined immunodeficiency due to GINS1 deficiency	semapv:ManualMappingCuration
MONDO:0044726	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	oboInOwl:hasDbXref	Orphanet:505242	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	semapv:ManualMappingCuration
MONDO:0044727	pancreatic carcinoma with mixed differentiation	oboInOwl:hasDbXref	Orphanet:506112	Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas	semapv:ManualMappingCuration
MONDO:0044737	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction	oboInOwl:hasDbXref	Orphanet:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	semapv:ManualMappingCuration
MONDO:0044738	Gabriele de Vries syndrome	oboInOwl:hasDbXref	Orphanet:506358	Gabriele-de Vries syndrome	semapv:ManualMappingCuration
MONDO:0044739	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	oboInOwl:hasDbXref	Orphanet:506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	semapv:ManualMappingCuration
MONDO:0044740	salivary gland squamous cell carcinoma	oboInOwl:hasDbXref	Orphanet:500481	OBSOLETE: Squamous cell carcinoma of salivary glands	semapv:ManualMappingCuration
MONDO:0044742	autosomal recessive epidermolytic ichthyosis	oboInOwl:hasDbXref	Orphanet:512103	Autosomal recessive epidermolytic ichthyosis	semapv:ManualMappingCuration
MONDO:0044778	nodular lymphocyte predominant Hodgkin lymphoma	oboInOwl:hasDbXref	Orphanet:86893	Nodular lymphocyte predominant Hodgkin lymphoma	semapv:ManualMappingCuration
MONDO:0044791	combined hepatocellular carcinoma and cholangiocarcinoma	oboInOwl:hasDbXref	Orphanet:529852	Combined hepatocellular carcinoma and cholangiocarcinoma	semapv:ManualMappingCuration
MONDO:0044792	large congenital melanocytic nevus	oboInOwl:hasDbXref	Orphanet:626	Large/giant congenital melanocytic nevus	semapv:ManualMappingCuration
MONDO:0044807	inherited dystonia	oboInOwl:hasDbXref	Orphanet:391799	Rare genetic dystonia	semapv:ManualMappingCuration
MONDO:0044877	paraneoplastic cerebellar degeneration	oboInOwl:hasDbXref	Orphanet:623626	Paraneoplastic cerebellar degeneration	semapv:ManualMappingCuration
MONDO:0054559	congenital disorder of glycosylation, type IIq	oboInOwl:hasDbXref	Orphanet:435934	COG2-CDG	semapv:ManualMappingCuration
MONDO:0054636	Skraban-Deardorff syndrome	oboInOwl:hasDbXref	Orphanet:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0054669	pontocerebellar hypoplasia, type 11	oboInOwl:hasDbXref	Orphanet:611247	Pontocerebellar hypoplasia type 11	semapv:ManualMappingCuration
MONDO:0054680	epiphyseal dysplasia, multiple, 7	oboInOwl:hasDbXref	Orphanet:647676	Multiple epiphyseal dysplasia type 7	semapv:ManualMappingCuration
MONDO:0054741	combined oxidative phosphorylation deficiency 34	oboInOwl:hasDbXref	Orphanet:457223	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	semapv:ManualMappingCuration
MONDO:0054770	orofaciodigital syndrome 18	oboInOwl:hasDbXref	Orphanet:508501	Oral-facial-digital syndrome with short stature and brachymesophalangy	semapv:ManualMappingCuration
MONDO:0054785	multiple mitochondrial dysfunctions syndrome 6	oboInOwl:hasDbXref	Orphanet:569290	Multiple mitochondrial dysfunctions syndrome type 6	semapv:ManualMappingCuration
MONDO:0054813	Ehlers-Danlos syndrome, classic-like, 2	oboInOwl:hasDbXref	Orphanet:536532	Classical-like Ehlers-Danlos syndrome type 2	semapv:ManualMappingCuration
MONDO:0054833	Charcot-Marie-tooth disease, axonal, type 2DD	oboInOwl:hasDbXref	Orphanet:521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD	semapv:ManualMappingCuration
MONDO:0054865	encephalopathy due to mitochondrial and peroxisomal fission defect	oboInOwl:hasDbXref	Orphanet:527276	Encephalopathy due to mitochondrial and peroxisomal fission defect	semapv:ManualMappingCuration
MONDO:0060490	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	oboInOwl:hasDbXref	Orphanet:544469	PRUNE1-related neurological syndrome	semapv:ManualMappingCuration
MONDO:0060502	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	oboInOwl:hasDbXref	Orphanet:521426	PLAA-associated neurodevelopmental disorder	semapv:ManualMappingCuration
MONDO:0060507	retinal dystrophy with or without macular staphyloma	oboInOwl:hasDbXref	Orphanet:653709	Cone rod dystrophy-short stature syndrome	semapv:ManualMappingCuration
MONDO:0060510	Cohen-Gibson syndrome	oboInOwl:hasDbXref	Orphanet:659396	Cohen-Gibson syndrome	semapv:ManualMappingCuration
MONDO:0060532	congenital heart defects and skeletal malformations syndrome	oboInOwl:hasDbXref	Orphanet:643503	Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome	semapv:ManualMappingCuration
MONDO:0060533	microcephaly, short stature, and limb abnormalities	oboInOwl:hasDbXref	Orphanet:572773	Microcephaly-short stature-limb abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0060549	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	oboInOwl:hasDbXref	Orphanet:656130	PBX1-related congenital anomalies of kidney and urinary tract syndrome	semapv:ManualMappingCuration
MONDO:0060556	joint laxity, short stature, and myopia	oboInOwl:hasDbXref	Orphanet:527450	Severe myopia-generalized joint laxity-short stature syndrome	semapv:ManualMappingCuration
MONDO:0060564	HELIX syndrome	oboInOwl:hasDbXref	Orphanet:528105	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	semapv:ManualMappingCuration
MONDO:0060568	Pilarowski-Bjornsson syndrome	oboInOwl:hasDbXref	Orphanet:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0060578	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	oboInOwl:hasDbXref	Orphanet:572798	WARS2-related combined oxidative phosphorylation defect	semapv:ManualMappingCuration
MONDO:0060582	auditory neuropathy-optic atrophy syndrome	oboInOwl:hasDbXref	Orphanet:542585	Auditory neuropathy-optic atrophy syndrome	semapv:ManualMappingCuration
MONDO:0060611	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	oboInOwl:hasDbXref	Orphanet:658813	Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	semapv:ManualMappingCuration
MONDO:0060622	neurodevelopmental disorder with severe motor impairment and absent language	oboInOwl:hasDbXref	Orphanet:647788	Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome	semapv:ManualMappingCuration
MONDO:0060627	glycosylphosphatidylinositol biosynthesis defect 15	oboInOwl:hasDbXref	Orphanet:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	semapv:ManualMappingCuration
MONDO:0060631	Alkuraya-Kucinskas syndrome	oboInOwl:hasDbXref	Orphanet:610569	KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome	semapv:ManualMappingCuration
MONDO:0060707	Ververi-Brady syndrome	oboInOwl:hasDbXref	Orphanet:580940	QRICH1-related intellectual disability-chondrodysplasia syndrome	semapv:ManualMappingCuration
MONDO:0060759	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	oboInOwl:hasDbXref	Orphanet:597623	IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome	semapv:ManualMappingCuration
MONDO:0060763	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	oboInOwl:hasDbXref	Orphanet:662829	Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0100038	complex neurodevelopmental disorder	oboInOwl:hasDbXref	Orphanet:528084	Non-specific syndromic intellectual disability	semapv:ManualMappingCuration
MONDO:0100040	FOXG1 disorder	oboInOwl:hasDbXref	Orphanet:561854	FOXG1 syndrome	semapv:ManualMappingCuration
MONDO:0100040	FOXG1 disorder	oboInOwl:hasDbXref	Orphanet:598164	FOXG1 syndrome due to intragenic alteration	semapv:ManualMappingCuration
MONDO:0100076	juvenile idiopathic scoliosis	oboInOwl:hasDbXref	Orphanet:459696	NON RARE IN EUROPE: Juvenile idiopathic scoliosis	semapv:ManualMappingCuration
MONDO:0100101	fetal akinesia deformation sequence 1	oboInOwl:hasDbXref	Orphanet:994	Fetal akinesia deformation sequence	semapv:ManualMappingCuration
MONDO:0100115	acute flaccid myelitis	oboInOwl:hasDbXref	Orphanet:623801	Acute flaccid myelitis	semapv:ManualMappingCuration
MONDO:0100116	Middle East respiratory syndrome	oboInOwl:hasDbXref	Orphanet:576074	Middle East respiratory syndrome	semapv:ManualMappingCuration
MONDO:0100130	adult acute respiratory distress syndrome	oboInOwl:hasDbXref	Orphanet:70578	Adult acute respiratory distress syndrome	semapv:ManualMappingCuration
MONDO:0100133	mitochondrial complex I deficiency	oboInOwl:hasDbXref	Orphanet:2609	Isolated complex I deficiency	semapv:ManualMappingCuration
MONDO:0100147	SATB2 associated disorder	oboInOwl:hasDbXref	Orphanet:576278	SATB2-associated syndrome	semapv:ManualMappingCuration
MONDO:0100161	hyperkalemic renal tubular acidosis	oboInOwl:hasDbXref	Orphanet:89939	NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis	semapv:ManualMappingCuration
MONDO:0100164	permanent neonatal diabetes mellitus	oboInOwl:hasDbXref	Orphanet:99885	Isolated permanent neonatal diabetes mellitus	semapv:ManualMappingCuration
MONDO:0100186	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	oboInOwl:hasDbXref	Orphanet:2102	GTP cyclohydrolase I deficiency	semapv:ManualMappingCuration
MONDO:0100189	obsolete apolipoprotein A-I deficiency	oboInOwl:hasDbXref	Orphanet:425	Apolipoprotein A-I deficiency	semapv:ManualMappingCuration
MONDO:0100211	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	oboInOwl:hasDbXref	Orphanet:220465	Laron syndrome with immunodeficiency	semapv:ManualMappingCuration
MONDO:0100212	IFAP syndrome	oboInOwl:hasDbXref	Orphanet:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	semapv:ManualMappingCuration
MONDO:0100215	Rajab interstitial lung disease with brain calcifications 1	oboInOwl:hasDbXref	Orphanet:178506	Brain calcification, Rajab type	semapv:ManualMappingCuration
MONDO:0100216	DICER1-related tumor predisposition	oboInOwl:hasDbXref	Orphanet:284343	DICER1 tumor-predisposition syndrome	semapv:ManualMappingCuration
MONDO:0100229	obsolete Heimler syndrome	oboInOwl:hasDbXref	Orphanet:3220	Deafness-enamel hypoplasia-nail defects syndrome	semapv:ManualMappingCuration
MONDO:0100234	paroxysmal familial ventricular fibrillation	oboInOwl:hasDbXref	Orphanet:228140	Idiopathic ventricular fibrillation, non Brugada type	semapv:ManualMappingCuration
MONDO:0100244	paroxysmal nocturnal hemoglobinuria	oboInOwl:hasDbXref	Orphanet:447	Paroxysmal nocturnal hemoglobinuria	semapv:ManualMappingCuration
MONDO:0100249	46,XX testicular disorder of sex development	oboInOwl:hasDbXref	Orphanet:393	46,XX testicular difference of sex development	semapv:ManualMappingCuration
MONDO:0100251	familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	oboInOwl:hasDbXref	Orphanet:306661	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	semapv:ManualMappingCuration
MONDO:0100253	Roberts-SC phocomelia syndrome	oboInOwl:hasDbXref	Orphanet:3103	Roberts syndrome	semapv:ManualMappingCuration
MONDO:0100255	adenosine kinase deficiency	oboInOwl:hasDbXref	Orphanet:289290	Hypermethioninemia encephalopathy due to adenosine kinase deficiency	semapv:ManualMappingCuration
MONDO:0100280	Waldenstrom macroglobulinemia	oboInOwl:hasDbXref	Orphanet:33226	Waldenström macroglobulinemia	semapv:ManualMappingCuration
MONDO:0100289	Goldmann-Favre syndrome	oboInOwl:hasDbXref	Orphanet:53540	Goldmann-Favre syndrome	semapv:ManualMappingCuration
MONDO:0100294	mitochondrial complex II deficiency, nuclear type 1	oboInOwl:hasDbXref	Orphanet:3208	Isolated succinate-CoQ reductase deficiency	semapv:ManualMappingCuration
MONDO:0100309	hereditary ataxia	oboInOwl:hasDbXref	Orphanet:183518	Hereditary ataxia	semapv:ManualMappingCuration
MONDO:0100325	odontochondrodysplasia 1	oboInOwl:hasDbXref	Orphanet:166272	Odontochondrodysplasia	semapv:ManualMappingCuration
MONDO:0100326	Glanzmann thrombasthenia	oboInOwl:hasDbXref	Orphanet:849	Glanzmann thrombasthenia	semapv:ManualMappingCuration
MONDO:0100339	Friedreich ataxia	oboInOwl:hasDbXref	Orphanet:95	Friedreich ataxia	semapv:ManualMappingCuration
MONDO:0100343	obsolete antenatal Bartter syndrome	oboInOwl:hasDbXref	Orphanet:93604	OBSOLETE: Antenatal Bartter syndrome	semapv:ManualMappingCuration
MONDO:0100344	Bartter disease type 1	oboInOwl:hasDbXref	Orphanet:620217	Bartter syndrome type 1	semapv:ManualMappingCuration
MONDO:0100347	carcinoid syndrome	oboInOwl:hasDbXref	Orphanet:100093	Carcinoid syndrome	semapv:ManualMappingCuration
MONDO:0100349	COACH syndrome	oboInOwl:hasDbXref	Orphanet:1454	Joubert syndrome with hepatic defect	semapv:ManualMappingCuration
MONDO:0100350	neuronopathy, distal hereditary motor, type 5	oboInOwl:hasDbXref	Orphanet:139536	Distal hereditary motor neuropathy type 5	semapv:ManualMappingCuration
MONDO:0100354	megacystis-microcolon-intestinal hypoperistalsis syndrome 1	oboInOwl:hasDbXref	Orphanet:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	semapv:ManualMappingCuration
MONDO:0100367	port-wine nevi-mega cisterna magna-hydrocephalus syndrome	oboInOwl:hasDbXref	Orphanet:2703	Port-wine nevi-mega cisterna magna-hydrocephalus syndrome	semapv:ManualMappingCuration
MONDO:0100428	progressive bulbar palsy of childhood	oboInOwl:hasDbXref	Orphanet:56965	Progressive bulbar paralysis of childhood	semapv:ManualMappingCuration
MONDO:0100429	intrahepatic cholestasis of pregnancy	oboInOwl:hasDbXref	Orphanet:69665	Intrahepatic cholestasis of pregnancy	semapv:ManualMappingCuration
MONDO:0100450	CAPN5-related vitreoretinopathy	oboInOwl:hasDbXref	Orphanet:329211	Autosomal dominant neovascular inflammatory vitreoretinopathy	semapv:ManualMappingCuration
MONDO:0100462	short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	oboInOwl:hasDbXref	Orphanet:251262	Familial osteochondritis dissecans	semapv:ManualMappingCuration
MONDO:0100466	butterfly-shaped pigment dystrophy	oboInOwl:hasDbXref	Orphanet:99001	Butterfly-shaped pigment dystrophy	semapv:ManualMappingCuration
MONDO:0100480	autoimmune primary adrenal insufficiency	oboInOwl:hasDbXref	Orphanet:85138	Addison disease	semapv:ManualMappingCuration
MONDO:0100491	generalized pustular psoriasis	oboInOwl:hasDbXref	Orphanet:247353	Generalized pustular psoriasis	semapv:ManualMappingCuration
MONDO:0100508	salivary gland type cancer of the breast	oboInOwl:hasDbXref	Orphanet:213557	Salivary gland type cancer of the breast	semapv:ManualMappingCuration
MONDO:0100512	mitochondrial DNA depletion syndrome, hepatocerebral form	oboInOwl:hasDbXref	Orphanet:254871	Mitochondrial DNA depletion syndrome, hepatocerebral form	semapv:ManualMappingCuration
MONDO:0100527	dysplastic cortical hyperostosis, Kozlowski-Tsuruta type	oboInOwl:hasDbXref	Orphanet:2204	Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type	semapv:ManualMappingCuration
MONDO:0100528	Hao-Fountain syndrome due to 16p13.2 microdeletion	oboInOwl:hasDbXref	Orphanet:500055	Hao-Fountain syndrome due to 16p13.2 microdeletion	semapv:ManualMappingCuration
MONDO:0100552	ATTRV30M amyloidosis	oboInOwl:hasDbXref	Orphanet:85447	ATTRV30M amyloidosis	semapv:ManualMappingCuration
MONDO:0100566	myoclonic epilepsy in infancy	oboInOwl:hasDbXref	Orphanet:86909	Myoclonic epilepsy of infancy	semapv:ManualMappingCuration
MONDO:0100567	hereditary angioedema with normal C1Inh	oboInOwl:hasDbXref	Orphanet:528647	Hereditary angioedema with normal C1Inh	semapv:ManualMappingCuration
MONDO:0100600	hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	oboInOwl:hasDbXref	Orphanet:137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	semapv:ManualMappingCuration
MONDO:0100605	POLR-related leukodystrophy	oboInOwl:hasDbXref	Orphanet:289494	4H leukodystrophy	semapv:ManualMappingCuration
MONDO:0600030	B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	oboInOwl:hasDbXref	Orphanet:585956	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	semapv:ManualMappingCuration
MONDO:0700088	paroxysmal nonkinesigenic dyskinesia	oboInOwl:hasDbXref	Orphanet:98810	Paroxysmal non-kinesigenic dyskinesia	semapv:ManualMappingCuration
MONDO:0700220	disease related to transplantation	oboInOwl:hasDbXref	Orphanet:306644	Complication after organ transplantation	semapv:ManualMappingCuration
MONDO:0700264	type 1 interferonopathy	oboInOwl:hasDbXref	Orphanet:477647	Type 1 interferonopathy	semapv:ManualMappingCuration
MONDO:0700275	prostate cancer, hereditary	oboInOwl:hasDbXref	Orphanet:1331	Familial prostate cancer	semapv:ManualMappingCuration
MONDO:0700291	glycogen storage disease IX	oboInOwl:hasDbXref	Orphanet:370	Glycogen storage disease due to phosphorylase kinase deficiency	semapv:ManualMappingCuration
MONDO:0700335	familial isolated dilated cardiomyopathy	oboInOwl:hasDbXref	Orphanet:154	Familial isolated dilated cardiomyopathy	semapv:ManualMappingCuration
MONDO:0800025	Teebi hypertelorism syndrome 1	oboInOwl:hasDbXref	Orphanet:1519	SPECC1L-related hypertelorism syndrome	semapv:ManualMappingCuration
MONDO:0800026	central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	oboInOwl:hasDbXref	Orphanet:661	Congenital central hypoventilation syndrome	semapv:ManualMappingCuration
MONDO:0800027	leukoencephalopathy, diffuse hereditary, with spheroids 1	oboInOwl:hasDbXref	Orphanet:313808	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	semapv:ManualMappingCuration
MONDO:0800028	dyskinesia with orofacial involvement, autosomal dominant	oboInOwl:hasDbXref	Orphanet:324588	Familial dyskinesia and facial myokymia	semapv:ManualMappingCuration
MONDO:0800029	interstitial lung disease 2	oboInOwl:hasDbXref	Orphanet:2032	Idiopathic pulmonary fibrosis	semapv:ManualMappingCuration
MONDO:0800030	gastrointestinal defects and immunodeficiency syndrome 1	oboInOwl:hasDbXref	Orphanet:436252	Combined immunodeficiency-enteropathy spectrum	semapv:ManualMappingCuration
MONDO:0800043	Stüve-Wiedemann syndrome 1	oboInOwl:hasDbXref	Orphanet:3206	Stüve-Wiedemann syndrome	semapv:ManualMappingCuration
MONDO:0800044	congenital disorder of deglycosylation 1	oboInOwl:hasDbXref	Orphanet:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	semapv:ManualMappingCuration
MONDO:0800045	autoinflammatory syndrome, familial, Behcet-like 1	oboInOwl:hasDbXref	Orphanet:476102	OBSOLETE: Hereditary pediatric Behçet-like disease	semapv:ManualMappingCuration
MONDO:0800045	autoinflammatory syndrome, familial, Behcet-like 1	oboInOwl:hasDbXref	Orphanet:674762	Early-onset autoinflammatory syndrome due to A20 haploinsufficiency	semapv:ManualMappingCuration
MONDO:0800046	thyroid hormone metabolism, abnormal 1	oboInOwl:hasDbXref	Orphanet:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	semapv:ManualMappingCuration
MONDO:0800084	obsolete primary bone dysplasia with increased bone density	oboInOwl:hasDbXref	Orphanet:93444	Primary bone dysplasia with increased bone density	semapv:ManualMappingCuration
MONDO:0800085	obsolete dysostosis with predominant craniofacial involvement	oboInOwl:hasDbXref	Orphanet:93453	Dysostosis with predominant craniofacial involvement	semapv:ManualMappingCuration
MONDO:0800086	obsolete primary bone dysplasia with multiple joint dislocations	oboInOwl:hasDbXref	Orphanet:93441	Primary bone dysplasia with multiple joint dislocations	semapv:ManualMappingCuration
MONDO:0800087	obsolete type 11 collagen-related bone disorder	oboInOwl:hasDbXref	Orphanet:93422	Type 11 collagen-related bone disorder	semapv:ManualMappingCuration
MONDO:0800088	lysosomal storage disease with skeletal involvement	oboInOwl:hasDbXref	Orphanet:93448	Lysosomal storage disease with skeletal involvement	semapv:ManualMappingCuration
MONDO:0800089	obsolete primary bone dysplasia with disorganized development of skeletal components	oboInOwl:hasDbXref	Orphanet:93450	Primary bone dysplasia with disorganized development of skeletal components	semapv:ManualMappingCuration
MONDO:0800090	obsolete ectrodactyly with and without other manifestations	oboInOwl:hasDbXref	Orphanet:498477	Ectrodactyly with and without other manifestations	semapv:ManualMappingCuration
MONDO:0800091	obsolete overgrowth or tall stature syndrome with skeletal involvement	oboInOwl:hasDbXref	Orphanet:498448	Overgrowth or tall stature syndrome with skeletal involvement	semapv:ManualMappingCuration
MONDO:0800092	obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy	oboInOwl:hasDbXref	Orphanet:498445	Genetic inflammatory or rheumatoid-like osteoarthropathy	semapv:ManualMappingCuration
MONDO:0800093	obsolete dysostosis with brachydactyly without extraskeletal manifestations	oboInOwl:hasDbXref	Orphanet:498451	Dysostosis with brachydactyly without extraskeletal manifestations	semapv:ManualMappingCuration
MONDO:0800094	obsolete dysostosis with brachydactyly with extraskeletal manifestations	oboInOwl:hasDbXref	Orphanet:498454	Dysostosis with brachydactyly with extraskeletal manifestations	semapv:ManualMappingCuration
MONDO:0800095	obsolete syndrome with synostosis or other joint formation defect	oboInOwl:hasDbXref	Orphanet:93459	Syndrome with synostosis or other joint formation defect	semapv:ManualMappingCuration
MONDO:0800167	Knobloch syndrome 1	oboInOwl:hasDbXref	Orphanet:1571	Knobloch syndrome	semapv:ManualMappingCuration
MONDO:0800175	cardiogenic shock	oboInOwl:hasDbXref	Orphanet:97292	Cardiogenic shock	semapv:ManualMappingCuration
MONDO:0800436	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	oboInOwl:hasDbXref	Orphanet:1394	Cerebrofaciothoracic dysplasia	semapv:ManualMappingCuration
MONDO:0800438	developmental delay with short stature, dysmorphic facial features, and sparse hair 1	oboInOwl:hasDbXref	Orphanet:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0800445	Birt-Hogg-Dube syndrome 1	oboInOwl:hasDbXref	Orphanet:122	Birt-Hogg-Dubé syndrome	semapv:ManualMappingCuration
MONDO:0800446	bleeding diathesis due to thromboxane synthesis deficiency	oboInOwl:hasDbXref	Orphanet:220443	Bleeding diathesis due to thromboxane synthesis deficiency	semapv:ManualMappingCuration
MONDO:0800448	leukoencephalopathy with vanishing white matter	oboInOwl:hasDbXref	Orphanet:135	CACH syndrome	semapv:ManualMappingCuration
MONDO:0800449	lysosomal acid lipase deficiency	oboInOwl:hasDbXref	Orphanet:275761	Lysosomal acid lipase deficiency	semapv:ManualMappingCuration
MONDO:0800452	congenital amegakaryocytic thrombocytopenia 1	oboInOwl:hasDbXref	Orphanet:3319	Congenital amegakaryocytic thrombocytopenia	semapv:ManualMappingCuration
MONDO:0800453	juvenile absence epilepsy	oboInOwl:hasDbXref	Orphanet:1941	Juvenile absence epilepsy	semapv:ManualMappingCuration
MONDO:0800478	trigeminal trophic syndrome	oboInOwl:hasDbXref	Orphanet:664901	Trigeminal trophic syndrome	semapv:ManualMappingCuration
MONDO:0800491	early-infantile DEE	oboInOwl:hasDbXref	Orphanet:1934	Early infantile epileptic encephalopathy	semapv:ManualMappingCuration
MONDO:0800491	early-infantile DEE	oboInOwl:hasDbXref	Orphanet:1935	Early myoclonic encephalopathy	semapv:ManualMappingCuration
MONDO:0850001	congenital neuronal ceroid lipofuscinosis	oboInOwl:hasDbXref	Orphanet:168486	OBSOLETE: Congenital neuronal ceroid lipofuscinosis	semapv:ManualMappingCuration
MONDO:0850007	syndromic lacrimal system disorder	oboInOwl:hasDbXref	Orphanet:519274	Syndromic lacrimal system disorder	semapv:ManualMappingCuration
MONDO:0850008	anterior segment developmental abnormality with extraocular manifestations	oboInOwl:hasDbXref	Orphanet:519276	Anterior segment developmental abnormality with extraocular manifestations	semapv:ManualMappingCuration
MONDO:0850009	syndromic microspherophakia	oboInOwl:hasDbXref	Orphanet:519294	Syndromic microspherophakia	semapv:ManualMappingCuration
MONDO:0850010	congenital optic disk excavation	oboInOwl:hasDbXref	Orphanet:519333	Congenital optic disc excavation	semapv:ManualMappingCuration
MONDO:0850013	twin anemia-polycythemia sequence	oboInOwl:hasDbXref	Orphanet:617294	Twin anemia-polycythemia sequence	semapv:ManualMappingCuration
MONDO:0850014	twin-reversed arterial perfusion sequence	oboInOwl:hasDbXref	Orphanet:617297	Twin-reversed arterial perfusion sequence	semapv:ManualMappingCuration
MONDO:0850015	selective intrauterine growth restriction	oboInOwl:hasDbXref	Orphanet:617301	Selective intrauterine growth restriction	semapv:ManualMappingCuration
MONDO:0850030	complete hemimelia	oboInOwl:hasDbXref	Orphanet:498491	Non-syndromic complete hemimelia	semapv:ManualMappingCuration
MONDO:0850046	amniotic fluid embolism	oboInOwl:hasDbXref	Orphanet:617304	Amniotic fluid embolism	semapv:ManualMappingCuration
MONDO:0850048	classic eosinophilic pustular folliculitis	oboInOwl:hasDbXref	Orphanet:617408	Classic eosinophilic pustular folliculitis	semapv:ManualMappingCuration
MONDO:0850049	painful legs and moving toes syndrome	oboInOwl:hasDbXref	Orphanet:617440	Painful legs and moving toes syndrome	semapv:ManualMappingCuration
MONDO:0850050	congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome	oboInOwl:hasDbXref	Orphanet:617449	Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome	semapv:ManualMappingCuration
MONDO:0850053	F12-associated cold autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:617919	F12-associated cold autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0850054	hemophilia B leyden	oboInOwl:hasDbXref	Orphanet:617930	Hemophilia B Leyden	semapv:ManualMappingCuration
MONDO:0850058	chronic neurovisceral acid sphingomyelinase deficiency	oboInOwl:hasDbXref	Orphanet:618891	Chronic neurovisceral acid sphingomyelinase deficiency	semapv:ManualMappingCuration
MONDO:0850059	hereditary persistence of fetal hemoglobin-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0850064	inherited hematologic cancer-predisposing syndrome	oboInOwl:hasDbXref	Orphanet:619340	Inherited hematologic cancer-predisposing syndrome	semapv:ManualMappingCuration
MONDO:0850065	neonatal-onset severe multisystemic autoinflammatory disease with increased IL18	oboInOwl:hasDbXref	Orphanet:619363	NOCARH syndrome	semapv:ManualMappingCuration
MONDO:0850066	SAMD9L-associated autoinflammatory syndrome	oboInOwl:hasDbXref	Orphanet:619367	SAMD9L-associated autoinflammatory syndrome	semapv:ManualMappingCuration
MONDO:0850067	immune deficiency due to impaired neutrophil phagocytosis and migration	oboInOwl:hasDbXref	Orphanet:619941	Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency	semapv:ManualMappingCuration
MONDO:0850068	early-onset autoimmunity-autoinflammation-immunodeficiency syndrome	oboInOwl:hasDbXref	Orphanet:619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency	semapv:ManualMappingCuration
MONDO:0850069	familial hyperinflammatory lymphoproliferative immunodeficiency	oboInOwl:hasDbXref	Orphanet:619953	Familial hyperinflammatory lymphoproliferative immunodeficiency	semapv:ManualMappingCuration
MONDO:0850070	CADINS disease	oboInOwl:hasDbXref	Orphanet:619972	CADINS disease	semapv:ManualMappingCuration
MONDO:0850071	developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome	oboInOwl:hasDbXref	Orphanet:619979	Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome	semapv:ManualMappingCuration
MONDO:0850072	non-syndromic unisutural craniosynostosis	oboInOwl:hasDbXref	Orphanet:620096	Non-syndromic unisutural craniosynostosis	semapv:ManualMappingCuration
MONDO:0850073	non-syndromic unicoronal craniosynostosis	oboInOwl:hasDbXref	Orphanet:620102	Non-syndromic unicoronal craniosynostosis	semapv:ManualMappingCuration
MONDO:0850074	non-syndromic unilambdoid craniosynostosis	oboInOwl:hasDbXref	Orphanet:620113	Non-syndromic unilambdoid craniosynostosis	semapv:ManualMappingCuration
MONDO:0850075	non-syndromic unifrontosphenoidal craniosynostosis	oboInOwl:hasDbXref	Orphanet:620139	Non-syndromic unifrontosphenoidal craniosynostosis	semapv:ManualMappingCuration
MONDO:0850076	non-syndromic unisquamosal craniosynostosis	oboInOwl:hasDbXref	Orphanet:620146	Non-syndromic unisquamosal craniosynostosis	semapv:ManualMappingCuration
MONDO:0850077	non-syndromic multisutural craniosynostosis	oboInOwl:hasDbXref	Orphanet:620152	Non-syndromic multisutural craniosynostosis	semapv:ManualMappingCuration
MONDO:0850078	non-syndromic non-specific multisutural craniosynostosis	oboInOwl:hasDbXref	Orphanet:620158	Non-syndromic non-specific multisutural craniosynostosis	semapv:ManualMappingCuration
MONDO:0850079	non-syndromic bilambdoid craniosynostosis	oboInOwl:hasDbXref	Orphanet:620178	Non-syndromic bilambdoid craniosynostosis	semapv:ManualMappingCuration
MONDO:0850080	non-syndromic unicoronal and sagittal craniosynostosis	oboInOwl:hasDbXref	Orphanet:620186	Non-syndromic unicoronal and sagittal craniosynostosis	semapv:ManualMappingCuration
MONDO:0850081	non-syndromic metopic and sagittal craniosynostosis	oboInOwl:hasDbXref	Orphanet:620192	Non-syndromic metopic and sagittal craniosynostosis	semapv:ManualMappingCuration
MONDO:0850082	non-syndromic bicoronal and metopic craniosynostosis	oboInOwl:hasDbXref	Orphanet:620198	Non-syndromic bicoronal and metopic craniosynostosis	semapv:ManualMappingCuration
MONDO:0850083	non-syndromic bicoronal and sagittal craniosynostosis	oboInOwl:hasDbXref	Orphanet:620205	Non-syndromic bicoronal and sagittal craniosynostosis	semapv:ManualMappingCuration
MONDO:0850084	non-syndromic pansynostosis	oboInOwl:hasDbXref	Orphanet:620212	Non-syndromic pansynostosis	semapv:ManualMappingCuration
MONDO:0850087	primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome	oboInOwl:hasDbXref	Orphanet:620363	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome	semapv:ManualMappingCuration
MONDO:0850088	EGF-related primary hypomagnesemia with intellectual disability	oboInOwl:hasDbXref	Orphanet:620368	EGF-related primary hypomagnesemia with intellectual disability	semapv:ManualMappingCuration
MONDO:0850089	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation	oboInOwl:hasDbXref	Orphanet:620371	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation	semapv:ManualMappingCuration
MONDO:0850090	fibrosis-neurodegeneration-cerebral angiomatosis syndrome	oboInOwl:hasDbXref	Orphanet:621758	Fibrosis-neurodegeneration-cerebral angiomatosis syndrome	semapv:ManualMappingCuration
MONDO:0850095	X-linked severe syndromic thoracic aortic aneurysm and dissection	oboInOwl:hasDbXref	Orphanet:622925	X-linked severe syndromic thoracic aortic aneurysm and dissection	semapv:ManualMappingCuration
MONDO:0850096	SBDS-related severe neonatal spondylometaphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:622934	SBDS-related severe neonatal spondylometaphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0850097	autoimmune limbic encephalitis	oboInOwl:hasDbXref	Orphanet:623615	Autoimmune limbic encephalitis	semapv:ManualMappingCuration
MONDO:0850099	MIR140-related spondyloepiphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:623695	MIR140-related spondyloepiphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0850100	body integrity dysphoria	oboInOwl:hasDbXref	Orphanet:623789	Body integrity dysphoria	semapv:ManualMappingCuration
MONDO:0850102	non-specific autoimmune supratentorial encephalitis with characteristic antibodies	oboInOwl:hasDbXref	Orphanet:624166	Non-specific autoimmune supratentorial encephalitis with characteristic antibodies	semapv:ManualMappingCuration
MONDO:0850103	non-specific autoimmune supratentorial encephalitis without characteristic antibodies	oboInOwl:hasDbXref	Orphanet:624178	Non-specific autoimmune supratentorial encephalitis without characteristic antibodies	semapv:ManualMappingCuration
MONDO:0850104	paraneoplastic isolated brainstem encephalitis	oboInOwl:hasDbXref	Orphanet:624190	Paraneoplastic isolated brainstem encephalitis	semapv:ManualMappingCuration
MONDO:0850105	non-specific autoimmune brainstem encephalitis with characteristic antibodies	oboInOwl:hasDbXref	Orphanet:624199	Non-specific autoimmune brainstem encephalitis with characteristic antibodies	semapv:ManualMappingCuration
MONDO:0850106	non-specific autoimmune brainstem encephalitis without characteristic antibodies	oboInOwl:hasDbXref	Orphanet:624216	Non-specific autoimmune brainstem encephalitis without characteristic antibodies	semapv:ManualMappingCuration
MONDO:0850107	postinfectious cerebellitis	oboInOwl:hasDbXref	Orphanet:624244	Postinfectious cerebellitis	semapv:ManualMappingCuration
MONDO:0850108	non-specific autoimmune cerebellar ataxia with characteristic antibodies	oboInOwl:hasDbXref	Orphanet:624259	Non-specific autoimmune cerebellar ataxia with characteristic antibodies	semapv:ManualMappingCuration
MONDO:0850109	non-specific autoimmune cerebellar ataxia without characteristic antibodies	oboInOwl:hasDbXref	Orphanet:624268	Non-specific autoimmune cerebellar ataxia without characteristic antibodies	semapv:ManualMappingCuration
MONDO:0850112	breast implant-associated anaplastic large cell lymphoma	oboInOwl:hasDbXref	Orphanet:667662	Breast implant-associated anaplastic large cell lymphoma	semapv:ManualMappingCuration
MONDO:0850115	early-onset obesity-hyperphagia-severe developmental delay syndrome	oboInOwl:hasDbXref	Orphanet:99704	Early-onset obesity-hyperphagia-severe developmental delay syndrome	semapv:ManualMappingCuration
MONDO:0858997	cancer of unknown primary site	oboInOwl:hasDbXref	Orphanet:631251	Cancer of unknown primary site	semapv:ManualMappingCuration
MONDO:0858998	mesomelic dysplasia-digital anomalies-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:632603	Mesomelic dysplasia-digital anomalies-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0858999	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome	oboInOwl:hasDbXref	Orphanet:633004	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome	semapv:ManualMappingCuration
MONDO:0859000	SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome	oboInOwl:hasDbXref	Orphanet:633014	SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0859002	intellectual disability-early-onset cataract-microcephaly syndrome	oboInOwl:hasDbXref	Orphanet:633035	Intellectual disability-early-onset cataract-microcephaly syndrome	semapv:ManualMappingCuration
MONDO:0859003	PAICS deficiency	oboInOwl:hasDbXref	Orphanet:633099	PAICS deficiency	semapv:ManualMappingCuration
MONDO:0859004	invasive scopulariopsis infection	oboInOwl:hasDbXref	Orphanet:633124	Invasive scopulariopsis infection	semapv:ManualMappingCuration
MONDO:0859005	preaxial digit brachydactyly-webbed fingers	oboInOwl:hasDbXref	Orphanet:633211	Preaxial digit brachydactyly-webbed fingers	semapv:ManualMappingCuration
MONDO:0859006	proximal femoral focal deficiency	oboInOwl:hasDbXref	Orphanet:633228	Isolated proximal femoral focal deficiency	semapv:ManualMappingCuration
MONDO:0859007	mosaic Legius syndrome	oboInOwl:hasDbXref	Orphanet:634511	Mosaic Legius syndrome	semapv:ManualMappingCuration
MONDO:0859008	neurofibromatosis/schwannomatosis	oboInOwl:hasDbXref	Orphanet:634518	Neurofibromatosis/schwannomatosis	semapv:ManualMappingCuration
MONDO:0859139	blepharophimosis-impaired intellectual development syndrome	oboInOwl:hasDbXref	Orphanet:637013	SMARCA2-related blepharophimosis-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0859143	Radio-Tartaglia syndrome	oboInOwl:hasDbXref	Orphanet:662234	Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0859147	Marbach-Rustad progeroid syndrome	oboInOwl:hasDbXref	Orphanet:659873	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	semapv:ManualMappingCuration
MONDO:0859150	BDV syndrome	oboInOwl:hasDbXref	Orphanet:633028	CPE-related Prader-Willi-like syndrome	semapv:ManualMappingCuration
MONDO:0859200	cerebellar ataxia, brain abnormalities, and cardiac conduction defects	oboInOwl:hasDbXref	Orphanet:641361	Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome	semapv:ManualMappingCuration
MONDO:0859206	neurodevelopmental disorder with hearing loss and spasticity	oboInOwl:hasDbXref	Orphanet:659975	Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0859219	Rauch-Steindl syndrome	oboInOwl:hasDbXref	Orphanet:659642	Rauch-Steindl syndrome	semapv:ManualMappingCuration
MONDO:0859257	intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	oboInOwl:hasDbXref	Orphanet:660017	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome	semapv:ManualMappingCuration
MONDO:0859267	tumor predisposition syndrome 2	oboInOwl:hasDbXref	Orphanet:661526	MBD4-related tumor predisposition syndrome	semapv:ManualMappingCuration
MONDO:0859297	neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	oboInOwl:hasDbXref	Orphanet:662189	Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome	semapv:ManualMappingCuration
MONDO:0859301	neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	oboInOwl:hasDbXref	Orphanet:662207	Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0859324	developmental delay, language impairment, and ocular abnormalities	oboInOwl:hasDbXref	Orphanet:662762	Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0859340	spinocerebellar ataxia 27B, late-onset	oboInOwl:hasDbXref	Orphanet:675216	Spinocerebellar ataxia type 27B	semapv:ManualMappingCuration
MONDO:0859692	immune-mediated cerebellar ataxia	oboInOwl:hasDbXref	Orphanet:623638	Immune-mediated cerebellar ataxia	semapv:ManualMappingCuration
MONDO:0859761	SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome	oboInOwl:hasDbXref	Orphanet:633021	SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0859762	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome	oboInOwl:hasDbXref	Orphanet:633024	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome	semapv:ManualMappingCuration
MONDO:0859763	mosaic neurofibromatosis type 1	oboInOwl:hasDbXref	Orphanet:634461	Mosaic neurofibromatosis type 1	semapv:ManualMappingCuration
MONDO:0859764	mosaic NF2-related schwannomatosis	oboInOwl:hasDbXref	Orphanet:634475	Mosaic NF2-related schwannomatosis	semapv:ManualMappingCuration
MONDO:0859765	mosaic schwannomatosis	oboInOwl:hasDbXref	Orphanet:634492	Mosaic schwannomatosis	semapv:ManualMappingCuration
MONDO:0957001	obsolete hereditary mixed dermis disorder	oboInOwl:hasDbXref	Orphanet:183481	Genetic mixed dermis disorder	semapv:ManualMappingCuration
MONDO:0957003	hereditary neuro-ophthalmological disease	oboInOwl:hasDbXref	Orphanet:183616	Genetic neuro-ophthalmological disease	semapv:ManualMappingCuration
MONDO:0957008	hereditary cerebral malformation	oboInOwl:hasDbXref	Orphanet:269553	Genetic cerebral malformation	semapv:ManualMappingCuration
MONDO:0957009	obsolete hereditary posterior fossa malformation	oboInOwl:hasDbXref	Orphanet:269557	Genetic posterior fossa malformation	semapv:ManualMappingCuration
MONDO:0957018	autoinflammatory syndrome of childhood	oboInOwl:hasDbXref	Orphanet:319719	Autoinflammatory syndrome of childhood	semapv:ManualMappingCuration
MONDO:0957024	obsolete hereditary 46,XX disorder of sex development	oboInOwl:hasDbXref	Orphanet:325697	Genetic 46,XX difference of sex development	semapv:ManualMappingCuration
MONDO:0957025	obsolete hereditary 46,XY disorder of sex development	oboInOwl:hasDbXref	Orphanet:325706	Genetic 46,XY difference of sex development	semapv:ManualMappingCuration
MONDO:0957048	isolated macular dystrophy	oboInOwl:hasDbXref	Orphanet:519302	Isolated macular dystrophy	semapv:ManualMappingCuration
MONDO:0957097	hereditary hemolytic uremic syndrome	oboInOwl:hasDbXref	Orphanet:576742	Genetic hemolytic uremic syndrome	semapv:ManualMappingCuration
MONDO:0957111	neurological muscular channelopathy due to a genetic sodium channel defect	oboInOwl:hasDbXref	Orphanet:98738	Neurological muscular channelopathy due to a genetic sodium channel defect	semapv:ManualMappingCuration
MONDO:0957112	neurological muscular channelopathy due to a genetic chloride channel defect	oboInOwl:hasDbXref	Orphanet:98739	Neurological muscular channelopathy due to a genetic chloride channel defect	semapv:ManualMappingCuration
MONDO:0957113	neurological muscular channelopathy due to a genetic calcium channel defect	oboInOwl:hasDbXref	Orphanet:98740	Neurological muscular channelopathy due to a genetic calcium channel defect	semapv:ManualMappingCuration
MONDO:0957114	neurological muscular channelopathy due to a genetic potassium channel defect	oboInOwl:hasDbXref	Orphanet:98741	Neurological muscular channelopathy due to a genetic potassium channel defect	semapv:ManualMappingCuration
MONDO:0957115	neurological muscular channelopathy due to a genetic ryanodine receptor defect	oboInOwl:hasDbXref	Orphanet:98742	Neurological muscular channelopathy due to a genetic ryanodine receptor defect	semapv:ManualMappingCuration
MONDO:0957270	muscular dystrophy, limb-girdle, autosomal recessive 28	oboInOwl:hasDbXref	Orphanet:653725	Autosomal recessive limb-girdle muscular dystrophy, type 28	semapv:ManualMappingCuration
MONDO:0957317	hematuria, benign familial	oboInOwl:hasDbXref	Orphanet:97562	NON RARE IN EUROPE: Benign familial hematuria	semapv:ManualMappingCuration
MONDO:0957337	isolated chorioretinal dystrophy	oboInOwl:hasDbXref	Orphanet:519300	Isolated chorioretinal dystrophy	semapv:ManualMappingCuration
MONDO:0957341	secondary early-onset glaucoma	oboInOwl:hasDbXref	Orphanet:519331	Secondary early-onset glaucoma	semapv:ManualMappingCuration
MONDO:0957397	intellectual developmental disorder, autosomal dominant 72	oboInOwl:hasDbXref	Orphanet:652487	Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0957403	periodic fever syndrome of childhood	oboInOwl:hasDbXref	Orphanet:324939	Periodic fever syndrome of childhood	semapv:ManualMappingCuration
MONDO:0957404	obsolete pyogenic autoinflammatory syndrome of childhood	oboInOwl:hasDbXref	Orphanet:324942	Pyogenic autoinflammatory syndrome of childhood	semapv:ManualMappingCuration
MONDO:0957405	granulomatous autoinflammatory syndrome of childhood	oboInOwl:hasDbXref	Orphanet:324950	Granulomatous autoinflammatory syndrome of childhood	semapv:ManualMappingCuration
MONDO:0957408	type 1 interferonopathy of childhood	oboInOwl:hasDbXref	Orphanet:481671	Type 1 interferonopathy of childhood	semapv:ManualMappingCuration
MONDO:0957421	borna virus encephalitis	oboInOwl:hasDbXref	Orphanet:637051	Borna virus encephalitis	semapv:ManualMappingCuration
MONDO:0957423	immunotherapy induced hypophysitis	oboInOwl:hasDbXref	Orphanet:641350	Immunotherapy induced hypophysitis	semapv:ManualMappingCuration
MONDO:0957427	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)	oboInOwl:hasDbXref	Orphanet:641372	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)	semapv:ManualMappingCuration
MONDO:0957428	B-lymphoblastic leukemia/lymphoma with t(17;19)	oboInOwl:hasDbXref	Orphanet:641375	B-lymphoblastic leukemia/lymphoma with t(17;19)	semapv:ManualMappingCuration
MONDO:0957430	childhood-onset schizophrenia	oboInOwl:hasDbXref	Orphanet:641496	Childhood-onset schizophrenia	semapv:ManualMappingCuration
MONDO:0957431	endogenous Cushing syndrome	oboInOwl:hasDbXref	Orphanet:641613	Endogenous Cushing syndrome	semapv:ManualMappingCuration
MONDO:0957432	neonatal compartment syndrome	oboInOwl:hasDbXref	Orphanet:641829	Neonatal compartment syndrome	semapv:ManualMappingCuration
MONDO:0957433	primary pulmonary vein stenosis	oboInOwl:hasDbXref	Orphanet:642071	Primary pulmonary vein stenosis	semapv:ManualMappingCuration
MONDO:0957442	autosomal recessive ataxia due to PEX16 deficiency	oboInOwl:hasDbXref	Orphanet:642954	Autosomal recessive ataxia due to PEX16 deficiency	semapv:ManualMappingCuration
MONDO:0957443	autosomal recessive ataxia due to PEX2 deficiency	oboInOwl:hasDbXref	Orphanet:642965	Autosomal recessive ataxia due to PEX2 deficiency	semapv:ManualMappingCuration
MONDO:0957451	non-terminal myelocystocele	oboInOwl:hasDbXref	Orphanet:645340	Non-terminal myelocystocele	semapv:ManualMappingCuration
MONDO:0957452	segmental arterial mediolysis	oboInOwl:hasDbXref	Orphanet:645350	Segmental arterial mediolysis	semapv:ManualMappingCuration
MONDO:0957453	true myelomeningocele	oboInOwl:hasDbXref	Orphanet:645383	True myelomeningocele	semapv:ManualMappingCuration
MONDO:0957454	hemi-myelomeningocele	oboInOwl:hasDbXref	Orphanet:645388	Hemi-myelomeningocele	semapv:ManualMappingCuration
MONDO:0957456	classical dermatomyositis	oboInOwl:hasDbXref	Orphanet:645613	Classical dermatomyositis	semapv:ManualMappingCuration
MONDO:0957458	adermatopathic dermatomyositis	oboInOwl:hasDbXref	Orphanet:645626	Adermatopathic dermatomyositis	semapv:ManualMappingCuration
MONDO:0957459	congenital esophageal stenosis	oboInOwl:hasDbXref	Orphanet:645749	Congenital esophageal stenosis	semapv:ManualMappingCuration
MONDO:0957460	spontaneous intestinal perforation	oboInOwl:hasDbXref	Orphanet:645793	Spontaneous intestinal perforation	semapv:ManualMappingCuration
MONDO:0957461	primary tuberculous lymphadenitis	oboInOwl:hasDbXref	Orphanet:645807	Primary tuberculous lymphadenitis	semapv:ManualMappingCuration
MONDO:0957462	primary pulmonary tuberculosis	oboInOwl:hasDbXref	Orphanet:645814	Primary pulmonary tuberculosis	semapv:ManualMappingCuration
MONDO:0957463	primary bone and joint tuberculosis	oboInOwl:hasDbXref	Orphanet:645822	Primary bone and joint tuberculosis	semapv:ManualMappingCuration
MONDO:0957464	primary cutaneous tuberculosis	oboInOwl:hasDbXref	Orphanet:645849	Primary cutaneous tuberculosis	semapv:ManualMappingCuration
MONDO:0957465	multifocal tuberculosis	oboInOwl:hasDbXref	Orphanet:645854	Multifocal tuberculosis	semapv:ManualMappingCuration
MONDO:0957466	primary tuberculosis of the digestive system	oboInOwl:hasDbXref	Orphanet:645859	Primary tuberculosis of the digestive system	semapv:ManualMappingCuration
MONDO:0957467	primary genito-urinary tuberculosis	oboInOwl:hasDbXref	Orphanet:645874	Primary genito-urinary tuberculosis	semapv:ManualMappingCuration
MONDO:0957473	craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome	oboInOwl:hasDbXref	Orphanet:647681	Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome	semapv:ManualMappingCuration
MONDO:0957476	isolated persistent urogenital sinus	oboInOwl:hasDbXref	Orphanet:647794	Isolated persistent urogenital sinus	semapv:ManualMappingCuration
MONDO:0957477	MYT1L-related developmental delay-intellectual disability-obesity syndrome	oboInOwl:hasDbXref	Orphanet:647799	MYT1L-related developmental delay-intellectual disability-obesity syndrome	semapv:ManualMappingCuration
MONDO:0957481	idiopathic pregnancy-associated osteoporosis	oboInOwl:hasDbXref	Orphanet:647823	Idiopathic pregnancy-associated osteoporosis	semapv:ManualMappingCuration
MONDO:0957487	idiopathic catatonia	oboInOwl:hasDbXref	Orphanet:648919	Idiopathic catatonia	semapv:ManualMappingCuration
MONDO:0957556	congenital pulmonary vein atresia	oboInOwl:hasDbXref	Orphanet:99126	Congenital pulmonary vein atresia	semapv:ManualMappingCuration
MONDO:0958071	Hao-Fountain syndrome due to USP7 mutation	oboInOwl:hasDbXref	Orphanet:643538	Hao-Fountain syndrome due to USP7 mutation	semapv:ManualMappingCuration
MONDO:0958075	intramedullary non-dysraphic spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645359	Intramedullary non-dysraphic spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0958076	myeloschisis	oboInOwl:hasDbXref	Orphanet:645398	Myeloschisis	semapv:ManualMappingCuration
MONDO:0958077	collagen 6-related congenital muscular dystrophy	oboInOwl:hasDbXref	Orphanet:646098	Collagen VI-related congenital muscular dystrophy	semapv:ManualMappingCuration
MONDO:0958083	conjoined twins	oboInOwl:hasDbXref	Orphanet:647916	Conjoined twins	semapv:ManualMappingCuration
MONDO:0958085	digenic hemochromatosis	oboInOwl:hasDbXref	Orphanet:648581	Digenic hemochromatosis	semapv:ManualMappingCuration
MONDO:0958091	cleft palate-congenital heart defect-intellectual disability syndrome	oboInOwl:hasDbXref	Orphanet:652519	Cleft palate-congenital heart defect-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0958093	non-syndromic supernumerary kidneys	oboInOwl:hasDbXref	Orphanet:652528	Non-syndromic supernumerary kidneys	semapv:ManualMappingCuration
MONDO:0958094	adult-onset progressive leukoencephalopathy-early-onset deafness	oboInOwl:hasDbXref	Orphanet:652532	Adult-onset progressive leukoencephalopathy-early-onset deafness	semapv:ManualMappingCuration
MONDO:0958095	Nodal T-follicular helper cell lymphoma, follicular type	oboInOwl:hasDbXref	Orphanet:652650	Nodal T-follicular helper cell lymphoma, follicular type	semapv:ManualMappingCuration
MONDO:0958096	monomorphic epitheliotropic intestinal T-cell lymphoma	oboInOwl:hasDbXref	Orphanet:652658	Monomorphic epitheliotropic intestinal T-cell lymphoma	semapv:ManualMappingCuration
MONDO:0958097	primary superior vena cava aneurysm	oboInOwl:hasDbXref	Orphanet:652668	Primary superior vena cava aneurysm	semapv:ManualMappingCuration
MONDO:0958098	primary inferior vena cava aneurysm	oboInOwl:hasDbXref	Orphanet:652678	Primary inferior vena cava aneurysm	semapv:ManualMappingCuration
MONDO:0958099	idiopathic subglottic stenosis	oboInOwl:hasDbXref	Orphanet:652681	Idiopathic subglottic stenosis	semapv:ManualMappingCuration
MONDO:0958101	lymphocytic mastitis	oboInOwl:hasDbXref	Orphanet:653698	Lymphocytic mastitis	semapv:ManualMappingCuration
MONDO:0958104	digenic Alport syndrome	oboInOwl:hasDbXref	Orphanet:653722	Digenic Alport syndrome	semapv:ManualMappingCuration
MONDO:0958106	congenital insensitivity to pain syndrome, Marsili type	oboInOwl:hasDbXref	Orphanet:653728	Congenital insensitivity to pain syndrome, Marsili type	semapv:ManualMappingCuration
MONDO:0958110	atrophic papulosis	oboInOwl:hasDbXref	Orphanet:656071	Atrophic papulosis	semapv:ManualMappingCuration
MONDO:0958115	autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	oboInOwl:hasDbXref	Orphanet:656283	Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	semapv:ManualMappingCuration
MONDO:0958116	autosomal recessive combined immunodeficiency due to partial IL6ST deficiency	oboInOwl:hasDbXref	Orphanet:656300	Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency	semapv:ManualMappingCuration
MONDO:0958117	autosomal dominant combined immunodeficiency due to partial IL6ST deficiency	oboInOwl:hasDbXref	Orphanet:656313	Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency	semapv:ManualMappingCuration
MONDO:0958118	autosomal recessive combined immunodeficiency due to IL6R deficiency	oboInOwl:hasDbXref	Orphanet:656326	Autosomal recessive combined immunodeficiency due to IL6R deficiency	semapv:ManualMappingCuration
MONDO:0958119	embryonal tumor with multilayered rosettes	oboInOwl:hasDbXref	Orphanet:656417	Embryonal tumor with multilayered rosettes	semapv:ManualMappingCuration
MONDO:0958120	autosomal dominant combined immunodeficiency due to ERBIN deficiency	oboInOwl:hasDbXref	Orphanet:656912	Autosomal dominant combined immunodeficiency due to ERBIN deficiency	semapv:ManualMappingCuration
MONDO:0958122	idiopathic small fibers neuropathy	oboInOwl:hasDbXref	Orphanet:658549	Idiopathic small fibers neuropathy	semapv:ManualMappingCuration
MONDO:0958123	isolated pulmonary artery sling	oboInOwl:hasDbXref	Orphanet:658574	Isolated pulmonary artery sling	semapv:ManualMappingCuration
MONDO:0958127	transplant-related bronchiolitis obliterans	oboInOwl:hasDbXref	Orphanet:658602	Transplant-related bronchiolitis obliterans	semapv:ManualMappingCuration
MONDO:0958128	non-transplant-related bronchiolitis obliterans	oboInOwl:hasDbXref	Orphanet:658612	Non-transplant-related bronchiolitis obliterans	semapv:ManualMappingCuration
MONDO:0958129	COQ7-related distal hereditary motor neuropathy	oboInOwl:hasDbXref	Orphanet:658778	COQ7-related distal hereditary motor neuropathy	semapv:ManualMappingCuration
MONDO:0958130	Greig cephalopolysyndactyly-contiguous gene syndrome	oboInOwl:hasDbXref	Orphanet:658805	Greig cephalopolysyndactyly-contiguous gene syndrome	semapv:ManualMappingCuration
MONDO:0958137	early-onset autoimmune disorder due to DOCK11 partial deficiency	oboInOwl:hasDbXref	Orphanet:658946	Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency	semapv:ManualMappingCuration
MONDO:0958138	early-onset immune dysregulation due to DOCK11 complete deficiency	oboInOwl:hasDbXref	Orphanet:658951	Early-onset immune dysregulation due to DOCK11 complete deficiency	semapv:ManualMappingCuration
MONDO:0958231	neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism	oboInOwl:hasDbXref	Orphanet:589515	PUM1-associated developmental disability-ataxia-seizure syndrome	semapv:ManualMappingCuration
MONDO:0958256	pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome	oboInOwl:hasDbXref	Orphanet:641385	PASS syndrome	semapv:ManualMappingCuration
MONDO:0958257	psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome	oboInOwl:hasDbXref	Orphanet:641390	PsAPASH syndrome	semapv:ManualMappingCuration
MONDO:0958258	Cushing syndrome due to cortisol-producing adrenocortical adenoma	oboInOwl:hasDbXref	Orphanet:642788	Cushing syndrome due to cortisol-producing adrenocortical adenoma	semapv:ManualMappingCuration
MONDO:0958259	dysraphism with stalk	oboInOwl:hasDbXref	Orphanet:645193	Dysraphism with stalk	semapv:ManualMappingCuration
MONDO:0958260	dysraphic spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645273	Dysraphic spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0958262	isolated primary pigmented nodular adrenocortical disease	oboInOwl:hasDbXref	Orphanet:647772	Isolated primary pigmented nodular adrenocortical disease	semapv:ManualMappingCuration
MONDO:0958263	isolated micronodular adrenocortical disease	oboInOwl:hasDbXref	Orphanet:647782	Isolated micronodular adrenocortical disease	semapv:ManualMappingCuration
MONDO:0958264	infectious scleritis	oboInOwl:hasDbXref	Orphanet:648665	Infectious scleritis	semapv:ManualMappingCuration
MONDO:0958265	idiopathic scleritis	oboInOwl:hasDbXref	Orphanet:648675	Idiopathic scleritis	semapv:ManualMappingCuration
MONDO:0958266	immune-mediated scleritis	oboInOwl:hasDbXref	Orphanet:648681	Immune-mediated scleritis	semapv:ManualMappingCuration
MONDO:0958267	non-syndromic bridging bronchus	oboInOwl:hasDbXref	Orphanet:648992	Non-syndromic bridging bronchus	semapv:ManualMappingCuration
MONDO:0958268	non-syndromic congenital bronchial atresia	oboInOwl:hasDbXref	Orphanet:649010	Non-syndromic congenital bronchial atresia	semapv:ManualMappingCuration
MONDO:0958269	isolated left bronchial isomerism	oboInOwl:hasDbXref	Orphanet:649029	Isolated left bronchial isomerism	semapv:ManualMappingCuration
MONDO:0958270	central precocious puberty in male	oboInOwl:hasDbXref	Orphanet:649929	Central precocious puberty in male	semapv:ManualMappingCuration
MONDO:0958273	cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation	oboInOwl:hasDbXref	Orphanet:652514	Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation	semapv:ManualMappingCuration
MONDO:0958274	benign atrophic papulosis	oboInOwl:hasDbXref	Orphanet:656085	Benign atrophic papulosis	semapv:ManualMappingCuration
MONDO:0958275	segmental spinal dysgenesis	oboInOwl:hasDbXref	Orphanet:656126	Segmental spinal dysgenesis	semapv:ManualMappingCuration
MONDO:0958278	neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	oboInOwl:hasDbXref	Orphanet:664430	Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome	semapv:ManualMappingCuration
MONDO:0958342	isolated optic nerve aplasia	oboInOwl:hasDbXref	Orphanet:637064	Isolated optic nerve aplasia	semapv:ManualMappingCuration
MONDO:0958343	PAPASH syndrome	oboInOwl:hasDbXref	Orphanet:641380	PAPASH syndrome	semapv:ManualMappingCuration
MONDO:0958344	spinal dermal sinus	oboInOwl:hasDbXref	Orphanet:645188	Spinal dermal sinus	semapv:ManualMappingCuration
MONDO:0958345	limited dorsal myeloschisis	oboInOwl:hasDbXref	Orphanet:645196	Limited dorsal myeloschisis	semapv:ManualMappingCuration
MONDO:0958346	isolated transitional filum lipoma	oboInOwl:hasDbXref	Orphanet:645322	Isolated transitional filum lipoma	semapv:ManualMappingCuration
MONDO:0958347	isolated filum lipoma	oboInOwl:hasDbXref	Orphanet:645325	Isolated filum lipoma	semapv:ManualMappingCuration
MONDO:0958348	retained medullary cord	oboInOwl:hasDbXref	Orphanet:645334	Retained medullary cord	semapv:ManualMappingCuration
MONDO:0958349	dorsal spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645362	Dorsal spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0958350	conus spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645367	Conus spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0958351	hemi-myeloschisis	oboInOwl:hasDbXref	Orphanet:645393	Hemi-myeloschisis	semapv:ManualMappingCuration
MONDO:0958352	true myeloschisis	oboInOwl:hasDbXref	Orphanet:645401	True myeloschisis	semapv:ManualMappingCuration
MONDO:0958353	intermediate collagen VI-related muscular dystrophy	oboInOwl:hasDbXref	Orphanet:646113	Intermediate collagen VI-related muscular dystrophy	semapv:ManualMappingCuration
MONDO:0958354	genetic central precocious puberty in female	oboInOwl:hasDbXref	Orphanet:650077	Genetic central precocious puberty in female	semapv:ManualMappingCuration
MONDO:0958355	secondary central precocious puberty in female	oboInOwl:hasDbXref	Orphanet:650082	Secondary central precocious puberty in female	semapv:ManualMappingCuration
MONDO:0958356	primary central precocious puberty in male	oboInOwl:hasDbXref	Orphanet:650087	Primary central precocious puberty in male	semapv:ManualMappingCuration
MONDO:0958357	secondary central precocious puberty in male	oboInOwl:hasDbXref	Orphanet:650092	Secondary central precocious puberty in male	semapv:ManualMappingCuration
MONDO:0968955	hypocalcified amelogenesis imperfecta	oboInOwl:hasDbXref	Orphanet:100032	Hypocalcified amelogenesis imperfecta	semapv:ManualMappingCuration
MONDO:0968959	isolated arhinencephaly	oboInOwl:hasDbXref	Orphanet:268936	Isolated arhinencephaly	semapv:ManualMappingCuration
MONDO:0968986	chaotic conus spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645285	Chaotic conus spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0968987	extramedullary conus spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645297	Extramedullary conus spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0968988	saccular spinal dysraphism with a stalk to the dome	oboInOwl:hasDbXref	Orphanet:645319	Saccular spinal dysraphism with a stalk to the dome	semapv:ManualMappingCuration
MONDO:0968989	non-saccular limited dorsal myeloschisis	oboInOwl:hasDbXref	Orphanet:645343	Non-saccular limited dorsal myeloschisis	semapv:ManualMappingCuration
MONDO:0968990	genetic central precocious puberty in male	oboInOwl:hasDbXref	Orphanet:650097	Genetic central precocious puberty in male	semapv:ManualMappingCuration
MONDO:0968991	non-genetic central precocious puberty in male	oboInOwl:hasDbXref	Orphanet:650102	Non-genetic central precocious puberty in male	semapv:ManualMappingCuration
MONDO:0970957	terminal extramedullary conus spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645288	Terminal extramedullary conus spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0970958	transitional extramedullary conus spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645291	Transitional extramedullary conus spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0970959	posterior extramedullary conus spinal cord lipoma	oboInOwl:hasDbXref	Orphanet:645294	Posterior extramedullary conus spinal cord lipoma	semapv:ManualMappingCuration
MONDO:0970960	lipomatous non-saccular limited dorsal myeloschisis	oboInOwl:hasDbXref	Orphanet:645300	Lipomatous non-saccular limited dorsal myeloschisis	semapv:ManualMappingCuration
MONDO:0970961	fibroneural non-saccular limited dorsal myeloschisis	oboInOwl:hasDbXref	Orphanet:645310	Fibroneural non-saccular limited dorsal myeloschisis	semapv:ManualMappingCuration
MONDO:0970962	terminal myelocystocele	oboInOwl:hasDbXref	Orphanet:645337	Terminal myelocystocele	semapv:ManualMappingCuration
MONDO:0970963	saccular limited dorsal myeloschisis	oboInOwl:hasDbXref	Orphanet:645354	Saccular limited dorsal myeloschisis	semapv:ManualMappingCuration
MONDO:0970964	myelic limited dorsal malformation	oboInOwl:hasDbXref	Orphanet:645378	Myelic limited dorsal malformation	semapv:ManualMappingCuration
MONDO:0971007	neuroocular syndrome 1	oboInOwl:hasDbXref	Orphanet:659904	Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0971047	PRC-2 complex-related overgrowth spectrum	oboInOwl:hasDbXref	Orphanet:659387	PRC-2 complex-related overgrowth spectrum	semapv:ManualMappingCuration
MONDO:0971049	single isolated optic neuritis	oboInOwl:hasDbXref	Orphanet:659626	Single isolated optic neuritis	semapv:ManualMappingCuration
MONDO:0971050	relapsing isolated optic neuritis	oboInOwl:hasDbXref	Orphanet:659634	Relapsing isolated optic neuritis	semapv:ManualMappingCuration
MONDO:0971056	ocular surface squamous neoplasia	oboInOwl:hasDbXref	Orphanet:659744	Ocular surface squamous neoplasia	semapv:ManualMappingCuration
MONDO:0971058	verruga peruana	oboInOwl:hasDbXref	Orphanet:659759	Verruga peruana	semapv:ManualMappingCuration
MONDO:0971062	developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation	oboInOwl:hasDbXref	Orphanet:660012	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation	semapv:ManualMappingCuration
MONDO:0971063	autosomal dominant dopa-responsive dystonia	oboInOwl:hasDbXref	Orphanet:98808	Autosomal dominant dopa-responsive dystonia	semapv:ManualMappingCuration
MONDO:0971064	orofacial clefting-cardiac anomalies-facial dysmorphism syndrome	oboInOwl:hasDbXref	Orphanet:660021	Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome	semapv:ManualMappingCuration
MONDO:0971066	megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency	oboInOwl:hasDbXref	Orphanet:661412	Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency	semapv:ManualMappingCuration
MONDO:0971068	Phelan-McDermid syndrome due to 22q13.3 deletion	oboInOwl:hasDbXref	Orphanet:662169	Phelan-McDermid syndrome due to 22q13.3 deletion	semapv:ManualMappingCuration
MONDO:0971069	Phelan-McDermid syndrome due to SHANK3 mutation	oboInOwl:hasDbXref	Orphanet:662172	Phelan-McDermid syndrome due to SHANK3 mutation	semapv:ManualMappingCuration
MONDO:0971077	episodic memory defect leukoencephalopathy	oboInOwl:hasDbXref	Orphanet:662229	Episodic memory defect leukoencephalopathy	semapv:ManualMappingCuration
MONDO:0971080	Grisel syndrome	oboInOwl:hasDbXref	Orphanet:662255	Grisel syndrome	semapv:ManualMappingCuration
MONDO:0971091	acute megakaryoblastic leukemia in adult	oboInOwl:hasDbXref	Orphanet:662934	Acute megakaryoblastic leukemia in adult	semapv:ManualMappingCuration
MONDO:0971092	soft and hard cleft palate	oboInOwl:hasDbXref	Orphanet:664372	Soft and hard cleft palate	semapv:ManualMappingCuration
MONDO:0971093	MGP-related spondyloepiphyseal dysplasia	oboInOwl:hasDbXref	Orphanet:664377	MGP-related spondyloepiphyseal dysplasia	semapv:ManualMappingCuration
MONDO:0971094	cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation	oboInOwl:hasDbXref	Orphanet:664401	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation	semapv:ManualMappingCuration
MONDO:0971095	6q25.1 microdeletion syndrome	oboInOwl:hasDbXref	Orphanet:664404	6q25.1 microdeletion syndrome	semapv:ManualMappingCuration
MONDO:0971103	Nicolau syndrome	oboInOwl:hasDbXref	Orphanet:664787	Nicolau syndrome	semapv:ManualMappingCuration
MONDO:0971105	neonatal renal venous thrombosis	oboInOwl:hasDbXref	Orphanet:664912	Neonatal renal venous thrombosis	semapv:ManualMappingCuration
MONDO:0971107	common arterial trunk with aortic dominance	oboInOwl:hasDbXref	Orphanet:665044	Common arterial trunk with aortic dominance	semapv:ManualMappingCuration
MONDO:0971108	common arterial trunk with pulmonary dominance and interrupted aortic arch	oboInOwl:hasDbXref	Orphanet:665058	Common arterial trunk with pulmonary dominance and interrupted aortic arch	semapv:ManualMappingCuration
MONDO:0971111	intraoral basal cell carcinoma	oboInOwl:hasDbXref	Orphanet:667678	Intraoral basal cell carcinoma	semapv:ManualMappingCuration
MONDO:0971115	benign vascular tumor	oboInOwl:hasDbXref	Orphanet:673470	Benign vascular tumor	semapv:ManualMappingCuration
MONDO:0971116	borderline vascular tumor	oboInOwl:hasDbXref	Orphanet:673473	Borderline vascular tumor	semapv:ManualMappingCuration
MONDO:0971118	pilocytic astrocytoma with histological features of anaplasia	oboInOwl:hasDbXref	Orphanet:673585	Pilocytic astrocytoma with histological features of anaplasia	semapv:ManualMappingCuration
MONDO:0971119	proteoglycan-related bone disorder	oboInOwl:hasDbXref	Orphanet:674499	Proteoglycan-related bone disorder	semapv:ManualMappingCuration
MONDO:0971123	isolated retinal racemose hemangioma	oboInOwl:hasDbXref	Orphanet:674924	Isolated retinal racemose hemangioma	semapv:ManualMappingCuration
MONDO:0971124	perifoveal exudative vascular anomalous complex	oboInOwl:hasDbXref	Orphanet:674930	Perifoveal exudative vascular anomalous complex	semapv:ManualMappingCuration
MONDO:0971125	torpedo maculopathy	oboInOwl:hasDbXref	Orphanet:674935	Torpedo Maculopathy	semapv:ManualMappingCuration
MONDO:0971126	isolated angioid streaks	oboInOwl:hasDbXref	Orphanet:674943	Isolated angioid streaks	semapv:ManualMappingCuration
MONDO:0971127	diffuse unilateral subacute neuroretinitis	oboInOwl:hasDbXref	Orphanet:674947	Diffuse unilateral subacute neuroretinitis	semapv:ManualMappingCuration
MONDO:0971128	multiple evanescent white dot syndrome	oboInOwl:hasDbXref	Orphanet:674953	Multiple evanescent white dot syndrome	semapv:ManualMappingCuration
MONDO:0971129	stellate multiform amelanotic choroidopathy	oboInOwl:hasDbXref	Orphanet:674958	Stellate multiform amelanotic choroidopathy	semapv:ManualMappingCuration
MONDO:0971130	choroidal osteoma	oboInOwl:hasDbXref	Orphanet:674965	Choroidal osteoma	semapv:ManualMappingCuration
MONDO:0971131	bilateral diffuse uveal melanocytic proliferation disease	oboInOwl:hasDbXref	Orphanet:674968	Bilateral diffuse uveal melanocytic proliferation disease	semapv:ManualMappingCuration
MONDO:0971133	isolated segmental infantile hemangioma	oboInOwl:hasDbXref	Orphanet:675380	Isolated segmental infantile hemangioma	semapv:ManualMappingCuration
MONDO:0971137	severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome	oboInOwl:hasDbXref	Orphanet:675775	Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome	semapv:ManualMappingCuration
MONDO:0971138	progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN	oboInOwl:hasDbXref	Orphanet:675782	Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN	semapv:ManualMappingCuration
MONDO:0971140	well-differentiated papillary mesothelial tumour of the pleura	oboInOwl:hasDbXref	Orphanet:675822	Well-differentiated papillary mesothelial tumour of the pleura	semapv:ManualMappingCuration
MONDO:0971141	localized pleural mesothelioma	oboInOwl:hasDbXref	Orphanet:675833	Localized pleural mesothelioma	semapv:ManualMappingCuration
MONDO:0971142	diffused pleural mesothelioma	oboInOwl:hasDbXref	Orphanet:675837	Diffused pleural mesothelioma	semapv:ManualMappingCuration
MONDO:0971143	pleural mesothelioma in situ	oboInOwl:hasDbXref	Orphanet:675841	Pleural mesothelioma in situ	semapv:ManualMappingCuration
MONDO:0971145	peritoneal mesothelioma in situ	oboInOwl:hasDbXref	Orphanet:676036	Peritoneal mesothelioma in situ	semapv:ManualMappingCuration
MONDO:0971154	hepatic cutaneous porphyria	oboInOwl:hasDbXref	Orphanet:659698	Hepatic cutaneous porphyria	semapv:ManualMappingCuration
MONDO:0971172	neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	oboInOwl:hasDbXref	Orphanet:686488	RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome	semapv:ManualMappingCuration
MONDO:0975751	brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation	oboInOwl:hasDbXref	Orphanet:664416	Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation	semapv:ManualMappingCuration
MONDO:0975752	littoral cell hemangioma of the spleen	oboInOwl:hasDbXref	Orphanet:673538	Littoral cell hemangioma of the spleen	semapv:ManualMappingCuration
MONDO:0975753	papillary hemangioma	oboInOwl:hasDbXref	Orphanet:673543	Papillary hemangioma	semapv:ManualMappingCuration
MONDO:0975754	pseudomyogenic hemangioendothelioma	oboInOwl:hasDbXref	Orphanet:673556	Pseudomyogenic hemangioendothelioma	semapv:ManualMappingCuration
MONDO:0975755	eccrine angiomatous hamartoma	oboInOwl:hasDbXref	Orphanet:673568	Eccrine angiomatous hamartoma	semapv:ManualMappingCuration
MONDO:0975756	reactive angioendotheliomatosis	oboInOwl:hasDbXref	Orphanet:673574	Reactive angioendotheliomatosis	semapv:ManualMappingCuration
MONDO:0975757	anastomosing haemangioma	oboInOwl:hasDbXref	Orphanet:675359	Anastomosing haemangioma	semapv:ManualMappingCuration
MONDO:0975758	microvenular haemangioma	oboInOwl:hasDbXref	Orphanet:675369	Microvenular haemangioma	semapv:ManualMappingCuration
MONDO:0975759	acquired elastotic haemangioma	oboInOwl:hasDbXref	Orphanet:675597	Acquired elastotic haemangioma	semapv:ManualMappingCuration
MONDO:1040032	EN1-related dorsoventral syndrome	oboInOwl:hasDbXref	Orphanet:611223	EN1-related dorsoventral syndrome	semapv:ManualMappingCuration
MONDO:1040033	congenital muscular dystrophy without intellectual disability	oboInOwl:hasDbXref	Orphanet:370980	Congenital muscular dystrophy without intellectual disability	semapv:ManualMappingCuration
MONDO:1060108	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	oboInOwl:hasDbXref	Orphanet:438213	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	semapv:ManualMappingCuration
MONDO:8000006	WHIM syndrome 1	oboInOwl:hasDbXref	Orphanet:51636	WHIM syndrome	semapv:ManualMappingCuration
MONDO:8000008	Martsolf syndrome 1	oboInOwl:hasDbXref	Orphanet:1387	Cataract-intellectual disability-hypogonadism syndrome	semapv:ManualMappingCuration
MONDO:8000010	antiphospholipid syndrome	oboInOwl:hasDbXref	Orphanet:80	Antiphospholipid syndrome	semapv:ManualMappingCuration
MONDO:8000011	visceral neuropathy, familial, 1, autosomal recessive	oboInOwl:hasDbXref	Orphanet:99811	Neuronal intestinal pseudoobstruction	semapv:ManualMappingCuration
MONDO:8000012	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	oboInOwl:hasDbXref	Orphanet:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	semapv:ManualMappingCuration
MONDO:8000015	46,XY sex reversal 11	oboInOwl:hasDbXref	Orphanet:983	Testicular regression syndrome	semapv:ManualMappingCuration
MONDO:8000030	obsolete morphological anomaly	oboInOwl:hasDbXref	Orphanet:377791	Morphological anomaly	semapv:ManualMappingCuration
MONDO:8000031	obsolete subtype of a disorder	oboInOwl:hasDbXref	Orphanet:557494	subtype of a disorder	semapv:ManualMappingCuration
MONDO:8000032	obsolete malformation syndrome	oboInOwl:hasDbXref	Orphanet:377789	Malformation syndrome	semapv:ManualMappingCuration
MONDO:8000033	obsolete group of disorders	oboInOwl:hasDbXref	Orphanet:557492	group of disorders	semapv:ManualMappingCuration
MONDO:8000034	obsolete disorder	oboInOwl:hasDbXref	Orphanet:557493	disorder	semapv:ManualMappingCuration