subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000070 Mycobacterium tuberculosis, susceptibility skos:exactMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:ManualMappingCuration MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:ManualMappingCuration MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:ManualMappingCuration MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 semapv:ManualMappingCuration MONDO:0000909 Bartter disease type 4B skos:exactMatch OMIM:613090 bartter syndrome, type 4b, neonatal, with sensorineural deafness semapv:ManualMappingCuration MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch OMIM:312612 retinitis pigmentosa 6 semapv:ManualMappingCuration MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:ManualMappingCuration MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch OMIM:600792 deafness, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch OMIM:616649 spherocytosis, type 2 semapv:ManualMappingCuration MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 semapv:ManualMappingCuration MONDO:0001046 imperforate anus skos:exactMatch OMIM:207500 anus, imperforate semapv:ManualMappingCuration MONDO:0001046 imperforate anus skos:exactMatch OMIM:301800 anus, imperforate semapv:ManualMappingCuration MONDO:0001056 gastric cancer skos:exactMatch OMIM:613659 gastric cancer semapv:ManualMappingCuration MONDO:0001187 urinary bladder cancer skos:exactMatch OMIM:109800 bladder cancer semapv:ManualMappingCuration MONDO:0002009 major depressive disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:ManualMappingCuration MONDO:0002422 adamantinoma skos:exactMatch OMIM:102660 adamantinoma of long bones semapv:ManualMappingCuration MONDO:0002629 bone osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:ManualMappingCuration MONDO:0002697 ovarian gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:ManualMappingCuration MONDO:0002974 cervical cancer skos:exactMatch OMIM:603956 cervical cancer semapv:ManualMappingCuration MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:ManualMappingCuration MONDO:0004573 ariboflavinosis skos:exactMatch OMIM:615026 riboflavin deficiency semapv:ManualMappingCuration MONDO:0004743 hyperhomocysteinemia skos:exactMatch OMIM:603174 hyperhomocysteinemia semapv:ManualMappingCuration MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm semapv:ManualMappingCuration MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch OMIM:151400 leukemia, chronic lymphocytic semapv:ManualMappingCuration MONDO:0004951 susceptibility to HIV infection skos:exactMatch OMIM:609423 human immunodeficiency virus type 1, susceptibility to semapv:ManualMappingCuration MONDO:0004980 atopic eczema skos:exactMatch OMIM:603165 dermatitis, atopic semapv:ManualMappingCuration MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:ManualMappingCuration MONDO:0005090 schizophrenia skos:exactMatch OMIM:181500 schizophrenia semapv:ManualMappingCuration MONDO:0005147 type 1 diabetes mellitus skos:exactMatch OMIM:222100 type 1 diabetes mellitus semapv:ManualMappingCuration MONDO:0005148 type 2 diabetes mellitus skos:exactMatch OMIM:125853 type 2 diabetes mellitus semapv:ManualMappingCuration MONDO:0005260 autism skos:exactMatch OMIM:209850 autism semapv:ManualMappingCuration MONDO:0005298 osteoporosis skos:exactMatch OMIM:166710 osteoporosis semapv:ManualMappingCuration MONDO:0005575 colorectal cancer skos:exactMatch OMIM:114500 colorectal cancer semapv:ManualMappingCuration MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:ManualMappingCuration MONDO:0006065 lactose intolerance adult type skos:exactMatch OMIM:223100 lactose intolerance, adult type semapv:ManualMappingCuration MONDO:0006292 malignant mesothelioma skos:exactMatch OMIM:156240 mesothelioma, malignant semapv:ManualMappingCuration MONDO:0006486 uveal melanoma skos:exactMatch OMIM:155720 melanoma, uveal semapv:ManualMappingCuration MONDO:0006761 fibromuscular dysplasia skos:exactMatch OMIM:135580 fibromuscular dysplasia, arterial semapv:ManualMappingCuration MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0007032 prune belly syndrome skos:exactMatch OMIM:100100 prune belly syndrome semapv:ManualMappingCuration MONDO:0007033 abducens nerve palsy skos:exactMatch OMIM:100200 abducens palsy semapv:ManualMappingCuration MONDO:0007036 Achard syndrome skos:exactMatch OMIM:100700 achard syndrome semapv:ManualMappingCuration MONDO:0007037 achondroplasia skos:exactMatch OMIM:100800 achondroplasia semapv:ManualMappingCuration MONDO:0007038 Achoo syndrome skos:exactMatch OMIM:100820 achoo syndrome semapv:ManualMappingCuration MONDO:0007039 NF2-related schwannomatosis skos:exactMatch OMIM:101000 schwannomatosis, vestibular semapv:ManualMappingCuration MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch OMIM:101120 acrocephalopolysyndactyly type 3 semapv:ManualMappingCuration MONDO:0007041 Apert syndrome skos:exactMatch OMIM:101200 apert syndrome semapv:ManualMappingCuration MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch OMIM:101400 saethre-chotzen syndrome semapv:ManualMappingCuration MONDO:0007043 Pfeiffer syndrome skos:exactMatch OMIM:101600 pfeiffer syndrome semapv:ManualMappingCuration MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:ManualMappingCuration MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch OMIM:101805 acrofacial dysostosis, catania type semapv:ManualMappingCuration MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:ManualMappingCuration MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch OMIM:101850 palmoplantar keratoderma, punctate type 3 semapv:ManualMappingCuration MONDO:0007048 acrokeratosis verruciformis skos:exactMatch OMIM:101900 acrokeratosis verruciformis semapv:ManualMappingCuration MONDO:0007049 acroleukopathy, symmetric skos:exactMatch OMIM:102000 acroleukopathy, symmetric semapv:ManualMappingCuration MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:ManualMappingCuration MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:ManualMappingCuration MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:ManualMappingCuration MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007054 acromial dimples skos:exactMatch OMIM:102350 acromial dimples semapv:ManualMappingCuration MONDO:0007055 Acromicric dysplasia skos:exactMatch OMIM:102370 acromicric dysplasia semapv:ManualMappingCuration MONDO:0007056 acroosteolysis skos:exactMatch OMIM:102400 acroosteolysis semapv:ManualMappingCuration MONDO:0007057 acroosteolysis dominant type skos:exactMatch OMIM:102500 hajdu-cheney syndrome semapv:ManualMappingCuration MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch OMIM:102510 acropectorovertebral dysplasia semapv:ManualMappingCuration MONDO:0007059 acrorenal syndrome skos:exactMatch OMIM:102520 acrorenal syndrome semapv:ManualMappingCuration MONDO:0007060 spermatogenic failure 6 skos:exactMatch OMIM:102530 spermatogenic failure 6 semapv:ManualMappingCuration MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:ManualMappingCuration MONDO:0007062 adactylia, unilateral skos:exactMatch OMIM:102650 adactylia, unilateral semapv:ManualMappingCuration MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:ManualMappingCuration MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch OMIM:103050 adenylosuccinase deficiency semapv:ManualMappingCuration MONDO:0007070 adiposis dolorosa skos:exactMatch OMIM:103200 adiposis dolorosa semapv:ManualMappingCuration MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:ManualMappingCuration MONDO:0007072 ADULT syndrome skos:exactMatch OMIM:103285 adult syndrome semapv:ManualMappingCuration MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch OMIM:103300 hypoglossia-hypodactylia semapv:ManualMappingCuration MONDO:0007074 ainhum skos:exactMatch OMIM:103400 ainhum semapv:ManualMappingCuration MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:ManualMappingCuration MONDO:0007077 Tietz syndrome skos:exactMatch OMIM:103500 tietz albinism-deafness syndrome semapv:ManualMappingCuration MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch OMIM:103580 pseudohypoparathyroidism, type 1a semapv:ManualMappingCuration MONDO:0007079 alcohol dependence skos:exactMatch OMIM:103780 alcohol dependence semapv:ManualMappingCuration MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch OMIM:103900 hyperaldosteronism, familial, type 1 semapv:ManualMappingCuration MONDO:0007082 alopecia areata 1 skos:exactMatch OMIM:104000 alopecia areata 1 semapv:ManualMappingCuration MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:ManualMappingCuration MONDO:0007084 familial focal alopecia skos:exactMatch OMIM:104110 alopecia, familial focal semapv:ManualMappingCuration MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:ManualMappingCuration MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch OMIM:104200 alport syndrome 3a, autosomal dominant semapv:ManualMappingCuration MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 alternating hemiplegia of childhood 1 semapv:ManualMappingCuration MONDO:0007088 Alzheimer disease type 1 skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:ManualMappingCuration MONDO:0007089 Alzheimer disease 2 skos:exactMatch OMIM:104310 alzheimer disease 2 semapv:ManualMappingCuration MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch OMIM:104350 amastia, bilateral, with ureteral triplication and dysmorphism semapv:ManualMappingCuration MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch OMIM:104400 amelia and terminal transverse hemimelia semapv:ManualMappingCuration MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch OMIM:104500 amelogenesis imperfecta, type 1b semapv:ManualMappingCuration MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch OMIM:104510 amelogenesis imperfecta, type 4 semapv:ManualMappingCuration MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch OMIM:104530 amelogenesis imperfecta, type 1a semapv:ManualMappingCuration MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch OMIM:104570 ameloonychohypohidrotic syndrome semapv:ManualMappingCuration MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch OMIM:104600 amenorrhea-galactorrhea syndrome semapv:ManualMappingCuration MONDO:0007097 Finnish type amyloidosis skos:exactMatch OMIM:105120 amyloidosis, finnish type semapv:ManualMappingCuration MONDO:0007098 ACys amyloidosis skos:exactMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:ManualMappingCuration MONDO:0007099 familial visceral amyloidosis skos:exactMatch OMIM:105200 amyloidosis, hereditary systemic 2 semapv:ManualMappingCuration MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch OMIM:105300 amyotrophic dystonic paraplegia semapv:ManualMappingCuration MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:ManualMappingCuration MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:ManualMappingCuration MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:ManualMappingCuration MONDO:0007106 anal sphincter dysplasia skos:exactMatch OMIM:105563 anal sphincter dysplasia semapv:ManualMappingCuration MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch OMIM:105565 anal sphincter myopathy, internal semapv:ManualMappingCuration MONDO:0007108 anal canal carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:ManualMappingCuration MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch OMIM:105600 anemia, congenital dyserythropoietic, type iiia semapv:ManualMappingCuration MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:ManualMappingCuration MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:ManualMappingCuration MONDO:0007112 interventricular septum aneurysm skos:exactMatch OMIM:105805 aneurysm of interventricular septum semapv:ManualMappingCuration MONDO:0007113 Angelman syndrome skos:exactMatch OMIM:105830 angelman syndrome semapv:ManualMappingCuration MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:ManualMappingCuration MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch OMIM:106050 angioma serpiginosum, autosomal dominant semapv:ManualMappingCuration MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:ManualMappingCuration MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:ManualMappingCuration MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch OMIM:106220 aniridia and absent patella semapv:ManualMappingCuration MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:ManualMappingCuration MONDO:0007122 anisocoria skos:exactMatch OMIM:106240 anisocoria semapv:ManualMappingCuration MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:ManualMappingCuration MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:ManualMappingCuration MONDO:0007125 ankyloglossia skos:exactMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:ManualMappingCuration MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007128 annular erythema skos:exactMatch OMIM:106500 annular erythema semapv:ManualMappingCuration MONDO:0007129 tooth agenesis, selective, 1 skos:exactMatch OMIM:106600 tooth agenesis, selective, 1 semapv:ManualMappingCuration MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:ManualMappingCuration MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch OMIM:106750 anonychia with flexural pigmentation semapv:ManualMappingCuration MONDO:0007132 anonychia-ectrodactyly skos:exactMatch OMIM:106900 anonychia-ectrodactyly semapv:ManualMappingCuration MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch OMIM:106990 anonychia-onychodystrophy with brachydactyly type B and ectrodactyly semapv:ManualMappingCuration MONDO:0007134 Cooks syndrome skos:exactMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:ManualMappingCuration MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:ManualMappingCuration MONDO:0007136 hereditary anorectal anomalies skos:exactMatch OMIM:107100 anorectal anomalies semapv:ManualMappingCuration MONDO:0007137 isolated congenital anosmia skos:exactMatch OMIM:107200 anosmia, isolated congenital semapv:ManualMappingCuration MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:ManualMappingCuration MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:ManualMappingCuration MONDO:0007141 obsolete antiviral state repressor, regulator of skos:exactMatch OMIM:107440 antiviral state repressor, regulator of semapv:ManualMappingCuration MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch OMIM:107500 aortic arch anomaly with peculiar facies and impaired intellectual development semapv:ManualMappingCuration MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma semapv:ManualMappingCuration MONDO:0007145 aplasia cutis congenita skos:exactMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:ManualMappingCuration MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch OMIM:107650 apnea, obstructive sleep semapv:ManualMappingCuration MONDO:0007148 appendicitis, proneness to skos:exactMatch OMIM:107700 appendicitis, proneness to semapv:ManualMappingCuration MONDO:0007149 obsolete arbitrary restriction polymorphism 1 skos:exactMatch OMIM:107750 arbitrary restriction polymorphism 1 semapv:ManualMappingCuration MONDO:0007150 arcus senilis skos:exactMatch OMIM:107800 arcus corneae semapv:ManualMappingCuration MONDO:0007151 arms, malformation of skos:exactMatch OMIM:107900 arms, malformation of semapv:ManualMappingCuration MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:ManualMappingCuration MONDO:0007153 arteries, anomalies of skos:exactMatch OMIM:108000 arteries, anomalies of semapv:ManualMappingCuration MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch OMIM:108010 arteriovenous malformations of the brain semapv:ManualMappingCuration MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch OMIM:108050 arteritis, familial granulomatous, with juvenile polyarthritis semapv:ManualMappingCuration MONDO:0007156 arthritis, sacroiliac skos:exactMatch OMIM:108100 arthritis, sacroiliac semapv:ManualMappingCuration MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch OMIM:108120 arthrogryposis, distal, type 1a semapv:ManualMappingCuration MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch OMIM:108145 arthrogryposis, distal, type 5 semapv:ManualMappingCuration MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch OMIM:108200 arthrogryposis, distal, type 6 semapv:ManualMappingCuration MONDO:0007160 Stickler syndrome type 1 skos:exactMatch OMIM:108300 stickler syndrome, type 1 semapv:ManualMappingCuration MONDO:0007161 spermatogenic failure 2 skos:exactMatch OMIM:108420 spermatogenic failure 2 semapv:ManualMappingCuration MONDO:0007162 asymmetric short stature syndrome skos:exactMatch OMIM:108450 asymmetric short stature syndrome semapv:ManualMappingCuration MONDO:0007163 episodic ataxia type 2 skos:exactMatch OMIM:108500 episodic ataxia, type 2 semapv:ManualMappingCuration MONDO:0007164 spastic ataxia 1 skos:exactMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:ManualMappingCuration MONDO:0007165 spastic ataxia 7 skos:exactMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:ManualMappingCuration MONDO:0007166 ataxia with fasciculations skos:exactMatch OMIM:108700 ataxia with fasciculations semapv:ManualMappingCuration MONDO:0007167 atelosteogenesis type I skos:exactMatch OMIM:108720 atelosteogenesis, type 1 semapv:ManualMappingCuration MONDO:0007168 atelosteogenesis type III skos:exactMatch OMIM:108721 atelosteogenesis, type 3 semapv:ManualMappingCuration MONDO:0007169 atherosclerosis susceptibility skos:exactMatch OMIM:108725 atherosclerosis susceptibility semapv:ManualMappingCuration MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 atresia of external auditory canal and conductive deafness semapv:ManualMappingCuration MONDO:0007171 atrial standstill 1 skos:exactMatch OMIM:108770 atrial standstill 1 semapv:ManualMappingCuration MONDO:0007172 atrial septal defect 1 skos:exactMatch OMIM:108800 atrial septal defect 1 semapv:ManualMappingCuration MONDO:0007173 atrial septal defect 7 skos:exactMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:ManualMappingCuration MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch OMIM:108950 atrial tachyarrhythmia with short pr interval semapv:ManualMappingCuration MONDO:0007175 PR interval, variation in skos:exactMatch OMIM:108980 pr interval, variation 1n semapv:ManualMappingCuration MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:ManualMappingCuration MONDO:0007177 auriculoosteodysplasia skos:exactMatch OMIM:109000 auriculoosteodysplasia semapv:ManualMappingCuration MONDO:0007178 aurocephalosyndactyly skos:exactMatch OMIM:109050 aurocephalosyndactyly semapv:ManualMappingCuration MONDO:0007179 autoimmune disease skos:exactMatch OMIM:109100 autoimmune disease semapv:ManualMappingCuration MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:ManualMappingCuration MONDO:0007181 axial osteomalacia skos:exactMatch OMIM:109130 axial osteomalacia semapv:ManualMappingCuration MONDO:0007182 Machado-Joseph disease skos:exactMatch OMIM:109150 machado-joseph disease semapv:ManualMappingCuration MONDO:0007183 azotemia, familial skos:exactMatch OMIM:109160 azotemia, familial semapv:ManualMappingCuration MONDO:0007184 alopecia, androgenetic, 1 skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:ManualMappingCuration MONDO:0007185 Banki syndrome skos:exactMatch OMIM:109300 banki syndrome semapv:ManualMappingCuration MONDO:0007186 gastroesophageal reflux disease skos:exactMatch OMIM:109350 gastroesophageal reflux semapv:ManualMappingCuration MONDO:0007188 primary basilar invagination skos:exactMatch OMIM:109500 basilar impression, primary semapv:ManualMappingCuration MONDO:0007189 obsolete B-cell growth factor skos:exactMatch OMIM:109540 b-cell growth factor semapv:ManualMappingCuration MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0007191 Behcet disease skos:exactMatch OMIM:109650 Behcet syndrome semapv:ManualMappingCuration MONDO:0007192 beta-amino acids, renal transport of skos:exactMatch OMIM:109660 beta-amino acids, renal transport of semapv:ManualMappingCuration MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:ManualMappingCuration MONDO:0007195 bifid nose, autosomal dominant skos:exactMatch OMIM:109740 bifid nose, autosomal dominant semapv:ManualMappingCuration MONDO:0007197 bladder diverticulum skos:exactMatch OMIM:109820 bladder diverticulum semapv:ManualMappingCuration MONDO:0007198 Ascher syndrome skos:exactMatch OMIM:109900 blepharochalasis and double 51p semapv:ManualMappingCuration MONDO:0007199 blepharochalasis, superior skos:exactMatch OMIM:110000 blepharochalasis, superior semapv:ManualMappingCuration MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch OMIM:110050 blepharonasofacial malformation syndrome semapv:ManualMappingCuration MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:ManualMappingCuration MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:ManualMappingCuration MONDO:0007203 blue rubber bleb nevus skos:exactMatch OMIM:112200 blue rubber bleb nevus semapv:ManualMappingCuration MONDO:0007204 Cole-Carpenter syndrome 1 skos:exactMatch OMIM:112240 cole-carpenter syndrome 1 semapv:ManualMappingCuration MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:ManualMappingCuration MONDO:0007206 bone pain, periodic skos:exactMatch OMIM:112270 bone pain, periodic semapv:ManualMappingCuration MONDO:0007207 Böök syndrome skos:exactMatch OMIM:112300 book syndrome semapv:ManualMappingCuration MONDO:0007208 Boomerang dysplasia skos:exactMatch OMIM:112310 boomerang dysplasia semapv:ManualMappingCuration MONDO:0007209 Weismann-Netter syndrome skos:exactMatch OMIM:112350 weismann-netter syndrome semapv:ManualMappingCuration MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch OMIM:112370 brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay semapv:ManualMappingCuration MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:ManualMappingCuration MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:ManualMappingCuration MONDO:0007213 Ballard syndrome skos:exactMatch OMIM:112440 brachydactyly, combined B and e types semapv:ManualMappingCuration MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:ManualMappingCuration MONDO:0007215 brachydactyly type A1 skos:exactMatch OMIM:112500 brachydactyly, type a1 semapv:ManualMappingCuration MONDO:0007216 brachydactyly type A2 skos:exactMatch OMIM:112600 brachydactyly, type a2 semapv:ManualMappingCuration MONDO:0007217 brachydactyly type A3 skos:exactMatch OMIM:112700 brachydactyly, type a3 semapv:ManualMappingCuration MONDO:0007218 brachydactyly type A4 skos:exactMatch OMIM:112800 brachydactyly, type a4 semapv:ManualMappingCuration MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch OMIM:112910 osebold-remondini syndrome semapv:ManualMappingCuration MONDO:0007220 brachydactyly type B1 skos:exactMatch OMIM:113000 brachydactyly, type b1 semapv:ManualMappingCuration MONDO:0007221 brachydactyly type C skos:exactMatch OMIM:113100 brachydactyly, type c semapv:ManualMappingCuration MONDO:0007222 brachydactyly type D skos:exactMatch OMIM:113200 brachydactyly, type d semapv:ManualMappingCuration MONDO:0007223 brachydactyly type E1 skos:exactMatch OMIM:113300 brachydactyly, type e1 semapv:ManualMappingCuration MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch OMIM:113301 brachydactyly, type e, with atrial septal defect, type 2 semapv:ManualMappingCuration MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:ManualMappingCuration MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:ManualMappingCuration MONDO:0007227 Sillence syndrome skos:exactMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:ManualMappingCuration MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch OMIM:113470 brachymesomelia-renal syndrome semapv:ManualMappingCuration MONDO:0007229 Brachymetatarsus 4 skos:exactMatch OMIM:113475 brachymetatarsus 4 semapv:ManualMappingCuration MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch OMIM:113477 brachymorphism-onychodysplasia-dysphalangism syndrome semapv:ManualMappingCuration MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:ManualMappingCuration MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch OMIM:113500 brachyolmia type 3 semapv:ManualMappingCuration MONDO:0007233 second branchial cleft anomaly skos:exactMatch OMIM:113600 branchial cleft anomalies semapv:ManualMappingCuration MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch OMIM:113610 branchial myoclonus with spastic paraparesis and cerebellar ataxia semapv:ManualMappingCuration MONDO:0007235 branchiooculofacial syndrome skos:exactMatch OMIM:113620 branchiooculofacial syndrome semapv:ManualMappingCuration MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:ManualMappingCuration MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:ManualMappingCuration MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch OMIM:113900 progressive familial heart block, type 1a semapv:ManualMappingCuration MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:ManualMappingCuration MONDO:0007242 butyrylesterase 1 skos:exactMatch OMIM:113960 butyrylesterase 1 semapv:ManualMappingCuration MONDO:0007243 Burkitt lymphoma skos:exactMatch OMIM:113970 burkitt lymphoma semapv:ManualMappingCuration MONDO:0007244 Caffey disease skos:exactMatch OMIM:114000 caffey disease semapv:ManualMappingCuration MONDO:0007245 cafe au lait spots, multiple skos:exactMatch OMIM:114030 cafe-au-lait spots, multiple semapv:ManualMappingCuration MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch OMIM:114065 calcific aortic disease with immunologic abnormalities, familial semapv:ManualMappingCuration MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:ManualMappingCuration MONDO:0007248 hereditary painful callosities skos:exactMatch OMIM:114140 callosities, hereditary painful semapv:ManualMappingCuration MONDO:0007249 camptobrachydactyly skos:exactMatch OMIM:114150 camptobrachydactyly semapv:ManualMappingCuration MONDO:0007250 camptodactyly of fingers skos:exactMatch OMIM:114200 camptodactyly 1 semapv:ManualMappingCuration MONDO:0007251 campomelic dysplasia skos:exactMatch OMIM:114290 campomelic dysplasia semapv:ManualMappingCuration MONDO:0007252 Gordon syndrome skos:exactMatch OMIM:114300 arthrogryposis, distal, type 3 semapv:ManualMappingCuration MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch OMIM:114450 cancer, familial, with 1n vitro radioresistance semapv:ManualMappingCuration MONDO:0007256 hepatocellular carcinoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:ManualMappingCuration MONDO:0007257 candidiasis, familial, 1 skos:exactMatch OMIM:114580 candidiasis, familial, 1 semapv:ManualMappingCuration MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch OMIM:114600 canine teeth, absence of upper permanent semapv:ManualMappingCuration MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch OMIM:114620 craniofaciofrontodigital syndrome semapv:ManualMappingCuration MONDO:0007260 Car factor deficiency skos:exactMatch OMIM:114650 car factor deficiency semapv:ManualMappingCuration MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch OMIM:114700 carabelli anomaly of maxillary molar teeth semapv:ManualMappingCuration MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:ManualMappingCuration MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:ManualMappingCuration MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:ManualMappingCuration MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:ManualMappingCuration MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:ManualMappingCuration MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:ManualMappingCuration MONDO:0007271 familial cutaneous collagenoma skos:exactMatch OMIM:115250 collagenoma, familial cutaneous semapv:ManualMappingCuration MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:ManualMappingCuration MONDO:0007273 paragangliomas 4 skos:exactMatch OMIM:115310 pheochromocytoma/paraganglioma syndrome 4 semapv:ManualMappingCuration MONDO:0007274 carpal displacement skos:exactMatch OMIM:115400 carpal displacement semapv:ManualMappingCuration MONDO:0007276 cat-eye syndrome skos:exactMatch OMIM:115470 cat eye syndrome semapv:ManualMappingCuration MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:ManualMappingCuration MONDO:0007278 cataract 32 multiple types skos:exactMatch OMIM:115650 cataract 32, multiple types semapv:ManualMappingCuration MONDO:0007279 cataract 7 skos:exactMatch OMIM:115660 cataract 7 semapv:ManualMappingCuration MONDO:0007280 cataract 8 multiple types skos:exactMatch OMIM:115665 cataract 8, multiple types semapv:ManualMappingCuration MONDO:0007281 cataract 4 multiple types skos:exactMatch OMIM:115700 cataract 4, multiple types semapv:ManualMappingCuration MONDO:0007282 cataract 29 skos:exactMatch OMIM:115800 cataract 29 semapv:ManualMappingCuration MONDO:0007283 cataract 42 skos:exactMatch OMIM:115900 cataract 42 semapv:ManualMappingCuration MONDO:0007284 cataract 20 multiple types skos:exactMatch OMIM:116100 cataract 20, multiple types semapv:ManualMappingCuration MONDO:0007285 cataract 1 multiple types skos:exactMatch OMIM:116200 cataract 1, multiple types semapv:ManualMappingCuration MONDO:0007286 cataract 30 skos:exactMatch OMIM:116300 cataract 30, multiple types semapv:ManualMappingCuration MONDO:0007287 cataract 41 skos:exactMatch OMIM:116400 cataract 41 semapv:ManualMappingCuration MONDO:0007288 cataract 6 multiple types skos:exactMatch OMIM:116600 cataract 6, multiple types semapv:ManualMappingCuration MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch OMIM:116700 cataract 13 with adult i phenotype semapv:ManualMappingCuration MONDO:0007290 cataract 5 multiple types skos:exactMatch OMIM:116800 cataract 5, multiple types semapv:ManualMappingCuration MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, type 1 semapv:ManualMappingCuration MONDO:0007294 central core myopathy skos:exactMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:ManualMappingCuration MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch OMIM:117100 centralopathic epilepsy semapv:ManualMappingCuration MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch OMIM:117210 spinocerebellar ataxia 31 semapv:ManualMappingCuration MONDO:0007297 ADan amyloidosis skos:exactMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:ManualMappingCuration MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch OMIM:117360 spinocerebellar ataxia 29 semapv:ManualMappingCuration MONDO:0007300 cerebral sarcoma skos:exactMatch OMIM:117600 cerebral sarcoma semapv:ManualMappingCuration MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch OMIM:117650 cerebrocostomandibular syndrome semapv:ManualMappingCuration MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:ManualMappingCuration MONDO:0007303 cervical rib disease skos:exactMatch OMIM:117900 cervical rib semapv:ManualMappingCuration MONDO:0007304 cervical vertebral Bridge skos:exactMatch OMIM:118000 cervical vertebral bridge semapv:ManualMappingCuration MONDO:0007305 cervical vertebral dysplasia skos:exactMatch OMIM:118005 cervical vertebral dysplasia semapv:ManualMappingCuration MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:ManualMappingCuration MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b semapv:ManualMappingCuration MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch OMIM:118210 charcot-marie-tooth disease, axonal, type 2a1 semapv:ManualMappingCuration MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch OMIM:118220 charcot-marie-tooth disease, demyelinating, type 1a semapv:ManualMappingCuration MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal type semapv:ManualMappingCuration MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:ManualMappingCuration MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism semapv:ManualMappingCuration MONDO:0007313 cheilitis glandularis skos:exactMatch OMIM:118330 cheilitis glandularis semapv:ManualMappingCuration MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas semapv:ManualMappingCuration MONDO:0007315 cherubism skos:exactMatch OMIM:118400 cherubism semapv:ManualMappingCuration MONDO:0007316 Chiari malformation type I skos:exactMatch OMIM:118420 chiari malformation type 1 semapv:ManualMappingCuration MONDO:0007317 obsolete chlorpropamide-alcohol flushing skos:exactMatch OMIM:118430 chlorpropamide-alcohol flushing semapv:ManualMappingCuration MONDO:0007319 chondrocalcinosis 2 skos:exactMatch OMIM:118600 chondrocalcinosis 2 semapv:ManualMappingCuration MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:ManualMappingCuration MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:ManualMappingCuration MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type semapv:ManualMappingCuration MONDO:0007323 Chondronectin skos:exactMatch OMIM:118670 chondronectin semapv:ManualMappingCuration MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch OMIM:118750 choreoathetosis, familial inverted semapv:ManualMappingCuration MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase semapv:ManualMappingCuration MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch OMIM:118865 choroidal osteoma, bilateral semapv:ManualMappingCuration MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:215600 cirrhosis, familial semapv:ManualMappingCuration MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:ManualMappingCuration MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:ManualMappingCuration MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:ManualMappingCuration MONDO:0007333 van der Woude syndrome 1 skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:ManualMappingCuration MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:ManualMappingCuration MONDO:0007335 orofacial cleft 1 skos:exactMatch OMIM:119530 orofacial cleft 1 semapv:ManualMappingCuration MONDO:0007336 isolated cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:ManualMappingCuration MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch OMIM:119550 syngnathia semapv:ManualMappingCuration MONDO:0007338 cleft soft palate skos:exactMatch OMIM:119570 cleft soft palate semapv:ManualMappingCuration MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch OMIM:119600 cleidocranial dysplasia 1 semapv:ManualMappingCuration MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch OMIM:119650 cleidorhizomelic syndrome semapv:ManualMappingCuration MONDO:0007342 clubfoot skos:exactMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:ManualMappingCuration MONDO:0007343 isolated congenital digital clubbing skos:exactMatch OMIM:119900 digital clubbing, isolated congenital semapv:ManualMappingCuration MONDO:0007344 cluster headache, familial skos:exactMatch OMIM:119915 cluster headache, familial semapv:ManualMappingCuration MONDO:0007345 aorta coarctation skos:exactMatch OMIM:120000 coarctation of aorta semapv:ManualMappingCuration MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:ManualMappingCuration MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:ManualMappingCuration MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:ManualMappingCuration MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:ManualMappingCuration MONDO:0007350 coloboma, ocular, autosomal dominant skos:exactMatch OMIM:120200 microphthalmia/coloboma 12 semapv:ManualMappingCuration MONDO:0007351 coloboma of macula skos:exactMatch OMIM:120300 coloboma of macula semapv:ManualMappingCuration MONDO:0007352 renal coloboma syndrome skos:exactMatch OMIM:120330 papillorenal syndrome semapv:ManualMappingCuration MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch OMIM:120400 coloboma of macula with type B brachydactyly semapv:ManualMappingCuration MONDO:0007354 coloboma of optic nerve skos:exactMatch OMIM:120430 coloboma of optic nerve semapv:ManualMappingCuration MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:ManualMappingCuration MONDO:0007356 Lynch syndrome 1 skos:exactMatch OMIM:120435 lynch syndrome 1 semapv:ManualMappingCuration MONDO:0007357 colonic varices without portal hypertension skos:exactMatch OMIM:120440 colonic varices without portal hypertension semapv:ManualMappingCuration MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch OMIM:120450 comedones, familial dyskeratotic semapv:ManualMappingCuration MONDO:0007359 commissural lip pits skos:exactMatch OMIM:120500 commissural 51p pits semapv:ManualMappingCuration MONDO:0007360 branchiootic syndrome 2 skos:exactMatch OMIM:120502 branchiootic syndrome 2 semapv:ManualMappingCuration MONDO:0007361 C1 inhibitor deficiency skos:exactMatch OMIM:120790 complement component 4, partial deficiency of semapv:ManualMappingCuration MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:ManualMappingCuration MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch OMIM:121050 contractural arachnodactyly, congenital semapv:ManualMappingCuration MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch OMIM:121070 arthrogryposis, distal, type 2e semapv:ManualMappingCuration MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:ManualMappingCuration MONDO:0007366 seizures, benign familial neonatal, 2 skos:exactMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:ManualMappingCuration MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch OMIM:121210 febrile seizures, familial, 1 semapv:ManualMappingCuration MONDO:0007368 familial benign copper deficiency skos:exactMatch OMIM:121270 copper deficiency, familial benign semapv:ManualMappingCuration MONDO:0007369 hereditary coproporphyria skos:exactMatch OMIM:121300 coproporphyria, hereditary semapv:ManualMappingCuration MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch OMIM:121350 coracoclavicular joint, anomalous semapv:ManualMappingCuration MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch OMIM:121390 cornea guttata with anterior polar cataracts semapv:ManualMappingCuration MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch OMIM:121400 cornea plana 1, autosomal dominant semapv:ManualMappingCuration MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:ManualMappingCuration MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch OMIM:121800 schnyder corneal dystrophy semapv:ManualMappingCuration MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:ManualMappingCuration MONDO:0007376 fleck corneal dystrophy skos:exactMatch OMIM:121850 corneal dystrophy, fleck semapv:ManualMappingCuration MONDO:0007377 granular corneal dystrophy type I skos:exactMatch OMIM:121900 corneal dystrophy, groenouw type 1 semapv:ManualMappingCuration MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:ManualMappingCuration MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch OMIM:122200 corneal dystrophy, lattice type 1 semapv:ManualMappingCuration MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:ManualMappingCuration MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch OMIM:122430 ramos-arroyo syndrome semapv:ManualMappingCuration MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch OMIM:122440 corneodermatoosseous syndrome semapv:ManualMappingCuration MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch OMIM:122450 corneal hypesthesia, familial semapv:ManualMappingCuration MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch OMIM:122455 coronary artery dissection, spontaneous semapv:ManualMappingCuration MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:ManualMappingCuration MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:ManualMappingCuration MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:ManualMappingCuration MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:ManualMappingCuration MONDO:0007390 coumarin resistance skos:exactMatch OMIM:122700 coumarin resistance semapv:ManualMappingCuration MONDO:0007391 coxa vara skos:exactMatch OMIM:122750 coxa vara semapv:ManualMappingCuration MONDO:0007392 coxoauricular syndrome skos:exactMatch OMIM:122780 coxoauricular syndrome semapv:ManualMappingCuration MONDO:0007393 cranioacrofacial syndrome skos:exactMatch OMIM:122850 cranioacrofacial syndrome semapv:ManualMappingCuration MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch OMIM:122880 craniofacial-deafness-hand syndrome semapv:ManualMappingCuration MONDO:0007396 dysostosis, Stanescu type skos:exactMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:ManualMappingCuration MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:ManualMappingCuration MONDO:0007398 craniorhiny skos:exactMatch OMIM:123050 craniorhiny semapv:ManualMappingCuration MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch OMIM:123100 craniosynostosis 1 semapv:ManualMappingCuration MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch OMIM:123150 jackson-weiss syndrome semapv:ManualMappingCuration MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:ManualMappingCuration MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:ManualMappingCuration MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch OMIM:123400 creutzfeldt-jakob disease semapv:ManualMappingCuration MONDO:0007404 Cri-du-chat syndrome skos:exactMatch OMIM:123450 cri-du-chat syndrome semapv:ManualMappingCuration MONDO:0007405 Crouzon syndrome skos:exactMatch OMIM:123500 crouzon syndrome semapv:ManualMappingCuration MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch OMIM:123540 cryofibrinogenemia, familial primary semapv:ManualMappingCuration MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:ManualMappingCuration MONDO:0007408 cryptotia, familial skos:exactMatch OMIM:123557 cryptotia, familial semapv:ManualMappingCuration MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:ManualMappingCuration MONDO:0007410 isolated cryptophthalmia skos:exactMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:ManualMappingCuration MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch OMIM:123700 cutis laxa, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:ManualMappingCuration MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:ManualMappingCuration MONDO:0007414 Gorham-Stout disease skos:exactMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:ManualMappingCuration MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear type 1 semapv:ManualMappingCuration MONDO:0007416 Balkan nephropathy skos:exactMatch OMIM:124100 danubian endemic familial nephropathy semapv:ManualMappingCuration MONDO:0007417 Darier disease skos:exactMatch OMIM:124200 darier-white disease semapv:ManualMappingCuration MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch OMIM:124300 darwinian tubercle of pinna semapv:ManualMappingCuration MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:ManualMappingCuration MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:ManualMappingCuration MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch OMIM:124500 vohwinkel syndrome semapv:ManualMappingCuration MONDO:0007423 deafness, mid-tone neural skos:exactMatch OMIM:124700 deafness, mid-tone neural semapv:ManualMappingCuration MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:ManualMappingCuration MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch OMIM:124950 deafness, sensorineural, with peripheral neuropathy and arterial disease semapv:ManualMappingCuration MONDO:0007426 deafness, unilateral skos:exactMatch OMIM:125000 deafness, unilateral semapv:ManualMappingCuration MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch OMIM:125050 deafness with anhidrotic ectodermal dysplasia semapv:ManualMappingCuration MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch OMIM:125230 deafness-craniofacial syndrome semapv:ManualMappingCuration MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:ManualMappingCuration MONDO:0007430 dens evaginatus skos:exactMatch OMIM:125280 dens evaginatus semapv:ManualMappingCuration MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch OMIM:125300 dens 1n dente and palatal invaginations semapv:ManualMappingCuration MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques semapv:ManualMappingCuration MONDO:0007434 primary failure of tooth eruption skos:exactMatch OMIM:125350 failure of tooth eruption, primary semapv:ManualMappingCuration MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration MONDO:0007436 dentin dysplasia type I skos:exactMatch OMIM:125400 dentin dysplasia, type 1 semapv:ManualMappingCuration MONDO:0007437 dentin dysplasia type II skos:exactMatch OMIM:125420 dentin dysplasia, type 2 semapv:ManualMappingCuration MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:ManualMappingCuration MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch OMIM:125460 deoxyribose-5-phosphate aldolase deficiency semapv:ManualMappingCuration MONDO:0007440 major affective disorder 1 skos:exactMatch OMIM:125480 major affective disorder 1 semapv:ManualMappingCuration MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:ManualMappingCuration MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch OMIM:125500 dentinogenesis imperfecta, shields type 3 semapv:ManualMappingCuration MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:ManualMappingCuration MONDO:0007444 dermal Ridges, patternless skos:exactMatch OMIM:125540 dermal ridges, patternless semapv:ManualMappingCuration MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch OMIM:125595 dermatopathia pigmentosa reticularis semapv:ManualMappingCuration MONDO:0007446 dermatosis papulosa nigra skos:exactMatch OMIM:125600 dermatosis papulosa nigra semapv:ManualMappingCuration MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:ManualMappingCuration MONDO:0007448 familial dermatographia skos:exactMatch OMIM:125635 dermographism, familial semapv:ManualMappingCuration MONDO:0007449 dermo-odonto dysplasia skos:exactMatch OMIM:125640 dermoodontodysplasia semapv:ManualMappingCuration MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:ManualMappingCuration MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch OMIM:125800 diabetes insipidus, nephrogenic, 2, autosomal semapv:ManualMappingCuration MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch OMIM:125850 maturity-onset diabetes of the young, type 1 semapv:ManualMappingCuration MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch OMIM:125851 maturity-onset diabetes of the young, type 2 semapv:ManualMappingCuration MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch OMIM:125852 type 1 diabetes mellitus 2 semapv:ManualMappingCuration MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch OMIM:125890 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency semapv:ManualMappingCuration MONDO:0007457 diastema, dental medial skos:exactMatch OMIM:125900 diastema, dental medial semapv:ManualMappingCuration MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:ManualMappingCuration MONDO:0007459 dilution, pigmentary skos:exactMatch OMIM:126070 dilution, pigmentary semapv:ManualMappingCuration MONDO:0007460 discrimination, Two-point, reduction 1N skos:exactMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:ManualMappingCuration MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:ManualMappingCuration MONDO:0007463 distal osteosclerosis skos:exactMatch OMIM:126250 distal osteosclerosis semapv:ManualMappingCuration MONDO:0007464 obsolete isolated distichiasis skos:exactMatch OMIM:126300 distichiasis semapv:ManualMappingCuration MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch OMIM:126320 distichiasis with congenital anomalies of the heart and peripheral vasculature semapv:ManualMappingCuration MONDO:0007466 DNA, satellite, 3 skos:exactMatch OMIM:126370 dna, satellite, 3 semapv:ManualMappingCuration MONDO:0007467 DNA, low-repetitive sequences of skos:exactMatch OMIM:126390 dna, low-repetitive sequences of semapv:ManualMappingCuration MONDO:0007468 obsolete DNA, satellite, alpha type skos:exactMatch OMIM:126410 dna, satellite, alpha type semapv:ManualMappingCuration MONDO:0007469 double nail for fifth toe skos:exactMatch OMIM:126500 double nail for fifth toe semapv:ManualMappingCuration MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:ManualMappingCuration MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:ManualMappingCuration MONDO:0007472 basal laminar drusen skos:exactMatch OMIM:126700 basal laminar drusen semapv:ManualMappingCuration MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction semapv:ManualMappingCuration MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 semapv:ManualMappingCuration MONDO:0007476 familial Dupuytren contracture skos:exactMatch OMIM:126900 dupuytren contracture semapv:ManualMappingCuration MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch OMIM:127000 kenny-caffey syndrome, type 2 semapv:ManualMappingCuration MONDO:0007479 dwarfism, Levi type skos:exactMatch OMIM:127100 dwarfism, levi type semapv:ManualMappingCuration MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:ManualMappingCuration MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:ManualMappingCuration MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch OMIM:127350 dyschondrosteosis and nephritis semapv:ManualMappingCuration MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:ManualMappingCuration MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch OMIM:127550 dyskeratosis congenita, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:ManualMappingCuration MONDO:0007487 dyslexia, susceptibility to, 1 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007488 Lewy body dementia skos:exactMatch OMIM:127750 dementia, lewy body semapv:ManualMappingCuration MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch OMIM:127800 dysplasia epiphysealis hemimelica semapv:ManualMappingCuration MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:ManualMappingCuration MONDO:0007491 dystelephalangy skos:exactMatch OMIM:128000 dystelephalangy semapv:ManualMappingCuration MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:ManualMappingCuration MONDO:0007493 torsion dystonia 4 skos:exactMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:ManualMappingCuration MONDO:0007495 dystonia 5 skos:exactMatch OMIM:128230 dystonia, dopa-responsive semapv:ManualMappingCuration MONDO:0007496 dystonia 12 skos:exactMatch OMIM:128235 dystonia 12 semapv:ManualMappingCuration MONDO:0007497 ear antitragus, tag at base of skos:exactMatch OMIM:128290 ear antitragus, tag at base of semapv:ManualMappingCuration MONDO:0007498 ear exostoses skos:exactMatch OMIM:128300 ear exostoses semapv:ManualMappingCuration MONDO:0007499 ear folding skos:exactMatch OMIM:128500 ear folding semapv:ManualMappingCuration MONDO:0007500 ear malformation skos:exactMatch OMIM:128600 ear malformation semapv:ManualMappingCuration MONDO:0007501 preauricular fistulae, congenital skos:exactMatch OMIM:128700 preauricular fistulae, congenital semapv:ManualMappingCuration MONDO:0007502 ear pits, posterior helical skos:exactMatch OMIM:128710 ear pits, posterior helical semapv:ManualMappingCuration MONDO:0007503 ear without helix skos:exactMatch OMIM:128800 ear without helix semapv:ManualMappingCuration MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:ManualMappingCuration MONDO:0007505 obsolete earring holes, natural skos:exactMatch OMIM:129000 earring holes, natural semapv:ManualMappingCuration MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:ManualMappingCuration MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch OMIM:129200 basan syndrome semapv:ManualMappingCuration MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch OMIM:129400 rapp-hodgkin syndrome semapv:ManualMappingCuration MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:ManualMappingCuration MONDO:0007510 Clouston syndrome skos:exactMatch OMIM:129500 clouston syndrome semapv:ManualMappingCuration MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch OMIM:129510 ectodermal dysplasia, trichoodontoonychial type semapv:ManualMappingCuration MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch OMIM:129540 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet semapv:ManualMappingCuration MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch OMIM:129550 ectodermal dysplasia with adrenal cyst semapv:ManualMappingCuration MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch OMIM:129600 ectopia lentis 1, isolated, autosomal dominant semapv:ManualMappingCuration MONDO:0007515 ectopia pupillae skos:exactMatch OMIM:129750 ectopia pupillae semapv:ManualMappingCuration MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate semapv:ManualMappingCuration MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:ManualMappingCuration MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch OMIM:129840 edema, familial idiopathic, prepubertal semapv:ManualMappingCuration MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch OMIM:129850 edinburgh malformation syndrome semapv:ManualMappingCuration MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:ManualMappingCuration MONDO:0007521 obsolete egasyn skos:exactMatch OMIM:129905 egasyn semapv:ManualMappingCuration MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch OMIM:130020 ehlers-danlos syndrome, hypermobility type semapv:ManualMappingCuration MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular type semapv:ManualMappingCuration MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:ManualMappingCuration MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified semapv:ManualMappingCuration MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch OMIM:130100 elastosis perforans serpiginosa semapv:ManualMappingCuration MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon semapv:ManualMappingCuration MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch OMIM:130300 electroencephalographic peculiarity: fronto-precentral beta wave groups semapv:ManualMappingCuration MONDO:0007532 obsolete Electroencephalographic peculiarity: occipital slow beta waves skos:exactMatch OMIM:130400 electroencephalographic peculiarity: occipital slow beta waves semapv:ManualMappingCuration MONDO:0007533 elliptocytosis 2 skos:exactMatch OMIM:130600 elliptocytosis 2 semapv:ManualMappingCuration MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch OMIM:130650 beckwith-wiedemann syndrome semapv:ManualMappingCuration MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch OMIM:130700 emphysema, hereditary pulmonary semapv:ManualMappingCuration MONDO:0007536 congenital lobar emphysema skos:exactMatch OMIM:130710 emphysema, congenital lobar semapv:ManualMappingCuration MONDO:0007537 lateral meningocele syndrome skos:exactMatch OMIM:130720 lateral meningocele syndrome semapv:ManualMappingCuration MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch OMIM:130900 amelogenesis imperfecta, type 3a semapv:ManualMappingCuration MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch OMIM:130950 encephalopathy, recurrent, of childhood semapv:ManualMappingCuration MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:131100 multiple endocrine neoplasia, type 1 semapv:ManualMappingCuration MONDO:0007541 endometriosis, susceptibility to, 1 skos:exactMatch OMIM:131200 endometriosis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007542 Camurati-Engelmann disease skos:exactMatch OMIM:131300 camurati-engelmann disease semapv:ManualMappingCuration MONDO:0007544 eosinophilia, familial skos:exactMatch OMIM:131400 eosinophilia, familial semapv:ManualMappingCuration MONDO:0007545 Eosinophilopenia skos:exactMatch OMIM:131430 eosinophilopenia semapv:ManualMappingCuration MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:ManualMappingCuration MONDO:0007547 epidermoid cysts skos:exactMatch OMIM:131600 epidermoid cysts semapv:ManualMappingCuration MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:ManualMappingCuration MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:ManualMappingCuration MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch OMIM:131760 epidermolysis bullosa simplex 1a, generalized severe semapv:ManualMappingCuration MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:ManualMappingCuration MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:ManualMappingCuration MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch OMIM:131880 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase semapv:ManualMappingCuration MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate semapv:ManualMappingCuration MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch OMIM:131950 epidermolysis bullosa simplex 5a, ogna type semapv:ManualMappingCuration MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:ManualMappingCuration MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch OMIM:132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails semapv:ManualMappingCuration MONDO:0007558 self-limited childhood occipital epilepsy skos:exactMatch OMIM:132090 epilepsy, benign occipital semapv:ManualMappingCuration MONDO:0007559 photoparoxysmal response 1 skos:exactMatch OMIM:132100 photoparoxysmal response 1 semapv:ManualMappingCuration MONDO:0007560 reading seizures skos:exactMatch OMIM:132300 epilepsy, reading semapv:ManualMappingCuration MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:ManualMappingCuration MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:ManualMappingCuration MONDO:0007564 pilomatrixoma skos:exactMatch OMIM:132600 pilomatrixoma semapv:ManualMappingCuration MONDO:0007565 familial cylindromatosis skos:exactMatch OMIM:132700 cylindromatosis, familial semapv:ManualMappingCuration MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:ManualMappingCuration MONDO:0007567 obsolete Epstein-Barr virus insertion site 1 skos:exactMatch OMIM:132850 epstein-barr virus insertion site 1 semapv:ManualMappingCuration MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:ManualMappingCuration MONDO:0007569 erythema nodosum, familial skos:exactMatch OMIM:132990 erythema nodosum, familial semapv:ManualMappingCuration MONDO:0007570 erythema palmare hereditarium skos:exactMatch OMIM:133000 erythema palmare hereditarium semapv:ManualMappingCuration MONDO:0007571 primary erythermalgia skos:exactMatch OMIM:133020 erythermalgia, primary semapv:ManualMappingCuration MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch OMIM:133100 erythrocytosis, familial, 1 semapv:ManualMappingCuration MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:ManualMappingCuration MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch OMIM:133190 spinocerebellar ataxia 34 semapv:ManualMappingCuration MONDO:0007576 esophageal cancer skos:exactMatch OMIM:133239 esophageal cancer semapv:ManualMappingCuration MONDO:0007577 esophageal ring, lower skos:exactMatch OMIM:133240 esophageal ring, lower semapv:ManualMappingCuration MONDO:0007578 obsolete esterase B skos:exactMatch OMIM:133260 esterase B semapv:ManualMappingCuration MONDO:0007579 obsolete esterase C skos:exactMatch OMIM:133270 esterase c semapv:ManualMappingCuration MONDO:0007580 obsolete esterase ES-2, regulator for skos:exactMatch OMIM:133300 esterase es-2, regulator for semapv:ManualMappingCuration MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch OMIM:133500 exchondrosis of pinna, posterior semapv:ManualMappingCuration MONDO:0007583 obsolete exostoses of heel skos:exactMatch OMIM:133600 exostoses of heel semapv:ManualMappingCuration MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch OMIM:133690 exostoses with anetodermia and brachydactyly, type e semapv:ManualMappingCuration MONDO:0007585 exostoses, multiple, type 1 skos:exactMatch OMIM:133700 exostoses, multiple, type 1 semapv:ManualMappingCuration MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch OMIM:133701 exostoses, multiple, type 2 semapv:ManualMappingCuration MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:ManualMappingCuration MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:ManualMappingCuration MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:ManualMappingCuration MONDO:0007590 hemifacial hypertrophy skos:exactMatch OMIM:133900 hemifacial hyperplasia semapv:ManualMappingCuration MONDO:0007591 obsolete facial hypertrichosis skos:exactMatch OMIM:134000 facial hypertrichosis semapv:ManualMappingCuration MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:ManualMappingCuration MONDO:0007593 facial spasm skos:exactMatch OMIM:134300 facial spasm semapv:ManualMappingCuration MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:ManualMappingCuration MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:ManualMappingCuration MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:ManualMappingCuration MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:ManualMappingCuration MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:ManualMappingCuration MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:ManualMappingCuration MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:ManualMappingCuration MONDO:0007603 Felty syndrome skos:exactMatch OMIM:134750 felty syndrome semapv:ManualMappingCuration MONDO:0007604 femoral-facial syndrome skos:exactMatch OMIM:134780 femoral-facial syndrome semapv:ManualMappingCuration MONDO:0007605 fibrinolytic defect skos:exactMatch OMIM:134900 fibrinolytic defect semapv:ManualMappingCuration MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration MONDO:0007608 desmoid tumor skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:ManualMappingCuration MONDO:0007609 fibromatosis, gingival, 1 skos:exactMatch OMIM:135300 fibromatosis, gingival, 1 semapv:ManualMappingCuration MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch OMIM:135400 hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia semapv:ManualMappingCuration MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:ManualMappingCuration MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch OMIM:135750 laurin-sandrow syndrome semapv:ManualMappingCuration MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch OMIM:135800 fibula, recurrent dislocation of head of semapv:ManualMappingCuration MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:ManualMappingCuration MONDO:0007618 Eng-Strom syndrome skos:exactMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:ManualMappingCuration MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch OMIM:136000 adermatoglyphia semapv:ManualMappingCuration MONDO:0007620 fish eye disease skos:exactMatch OMIM:136120 fish-eye disease semapv:ManualMappingCuration MONDO:0007621 Floating-Harbor syndrome skos:exactMatch OMIM:136140 floating-harbor syndrome semapv:ManualMappingCuration MONDO:0007622 obsolete flood factor deficiency skos:exactMatch OMIM:136150 flood factor deficiency semapv:ManualMappingCuration MONDO:0007623 flushing of ears and somnolence skos:exactMatch OMIM:136200 flushing of ears and somnolence semapv:ManualMappingCuration MONDO:0007624 Flynn-Aird syndrome skos:exactMatch OMIM:136300 flynn-aird syndrome semapv:ManualMappingCuration MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch OMIM:136400 focal epithelial hyperplasia of the oral mucosa semapv:ManualMappingCuration MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:ManualMappingCuration MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch OMIM:136500 focal facial dermal dysplasia 1, brauer type semapv:ManualMappingCuration MONDO:0007628 foveal hypoplasia 1 skos:exactMatch OMIM:136520 foveal hypoplasia 1 semapv:ManualMappingCuration MONDO:0007629 fragile site 10Q23 skos:exactMatch OMIM:136540 fragile site 10q23 semapv:ManualMappingCuration MONDO:0007630 North Carolina macular dystrophy skos:exactMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina type semapv:ManualMappingCuration MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:ManualMappingCuration MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:ManualMappingCuration MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch OMIM:136600 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness semapv:ManualMappingCuration MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch OMIM:136630 intellectual developmental disorder, fra12a type semapv:ManualMappingCuration MONDO:0007635 Frasier syndrome skos:exactMatch OMIM:136680 frasier syndrome semapv:ManualMappingCuration MONDO:0007636 frontorhiny skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:ManualMappingCuration MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:ManualMappingCuration MONDO:0007638 fucosidase regulator skos:exactMatch OMIM:136830 fucosidase regulator semapv:ManualMappingCuration MONDO:0007639 fundus albipunctatus skos:exactMatch OMIM:136880 fundus albipunctatus semapv:ManualMappingCuration MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch OMIM:136900 sorsby fundus dystrophy semapv:ManualMappingCuration MONDO:0007641 obsolete Futcher line skos:exactMatch OMIM:137000 futcher line semapv:ManualMappingCuration MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch OMIM:137040 gallbladder, agenesis of semapv:ManualMappingCuration MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch OMIM:137050 gamma-a-globulin, defect 1n assembly of semapv:ManualMappingCuration MONDO:0007644 IgAD1 skos:exactMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:ManualMappingCuration MONDO:0007645 obsolete gastric sneezing skos:exactMatch OMIM:137130 gastric sneezing semapv:ManualMappingCuration MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:ManualMappingCuration MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch OMIM:137210 gastric volvulus, intrathoracic semapv:ManualMappingCuration MONDO:0007649 obsolete gastric juice peptides skos:exactMatch OMIM:137220 gastric juice peptides semapv:ManualMappingCuration MONDO:0007650 MALT lymphoma skos:exactMatch OMIM:137245 lymphoma, mucosa-associated lymphoid type semapv:ManualMappingCuration MONDO:0007651 gastrocutaneous syndrome skos:exactMatch OMIM:137270 gastrocutaneous syndrome semapv:ManualMappingCuration MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:ManualMappingCuration MONDO:0007653 genochondromatosis skos:exactMatch OMIM:137360 genochondromatosis semapv:ManualMappingCuration MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch OMIM:137370 genu valgum, st. helena familial semapv:ManualMappingCuration MONDO:0007655 fissured tongue skos:exactMatch OMIM:137400 geographic and fissured tongue semapv:ManualMappingCuration MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch OMIM:137440 gerstmann-straussler disease semapv:ManualMappingCuration MONDO:0007657 giant neutrophil leukocytes skos:exactMatch OMIM:137500 giant neutrophil leukocytes semapv:ManualMappingCuration MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:ManualMappingCuration MONDO:0007660 familial ossifying fibroma skos:exactMatch OMIM:137575 gigantiform cementoma, familial semapv:ManualMappingCuration MONDO:0007661 Tourette syndrome skos:exactMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:ManualMappingCuration MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch OMIM:137600 anterior segment dysgenesis 4 semapv:ManualMappingCuration MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch OMIM:137700 glaucoma with elevated episcleral venous pressure semapv:ManualMappingCuration MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch OMIM:137750 glaucoma 1, open angle, a semapv:ManualMappingCuration MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch OMIM:137763 glaucoma and sleep apnea semapv:ManualMappingCuration MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch OMIM:137900 globulin anomaly involving beta (2a)-globulin semapv:ManualMappingCuration MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch OMIM:137920 renal cysts and diabetes syndrome semapv:ManualMappingCuration MONDO:0007672 glomuvenous malformation skos:exactMatch OMIM:138000 glomuvenous malformations semapv:ManualMappingCuration MONDO:0007673 Glucoglycinuria skos:exactMatch OMIM:138070 glucoglycinuria semapv:ManualMappingCuration MONDO:0007674 glucose-6-phosphate dehydrogenase-like skos:exactMatch OMIM:138110 glucose-6-phosphate dehydrogenase-like semapv:ManualMappingCuration MONDO:0007675 glutamic acid decarboxylase, brain, membrane form skos:exactMatch OMIM:138277 glutamic acid decarboxylase, brain, membrane form semapv:ManualMappingCuration MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:exactMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:ManualMappingCuration MONDO:0007677 hyperglycinuria skos:exactMatch OMIM:138500 hyperglycinuria semapv:ManualMappingCuration MONDO:0007678 obsolete glycoprotein, renal skos:exactMatch OMIM:138710 glycoprotein, renal semapv:ManualMappingCuration MONDO:0007679 GMS syndrome skos:exactMatch OMIM:138770 gms syndrome semapv:ManualMappingCuration MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:ManualMappingCuration MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:ManualMappingCuration MONDO:0007682 granddad syndrome skos:exactMatch OMIM:138920 granddad syndrome semapv:ManualMappingCuration MONDO:0007683 Grant syndrome skos:exactMatch OMIM:138930 grant syndrome semapv:ManualMappingCuration MONDO:0007685 granulosis rubra nasi skos:exactMatch OMIM:139000 granulosis rubra nasi semapv:ManualMappingCuration MONDO:0007686 gray platelet syndrome skos:exactMatch OMIM:139090 gray platelet syndrome semapv:ManualMappingCuration MONDO:0007687 graying of hair, precocious skos:exactMatch OMIM:139100 graying of hair, precocious semapv:ManualMappingCuration MONDO:0007688 Myhre syndrome skos:exactMatch OMIM:139210 myhre syndrome semapv:ManualMappingCuration MONDO:0007689 guanylate kinase 3 skos:exactMatch OMIM:139290 guanylate kinase 3 semapv:ManualMappingCuration MONDO:0007690 aromatase excess syndrome skos:exactMatch OMIM:139300 aromatase excess syndrome semapv:ManualMappingCuration MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:ManualMappingCuration MONDO:0007692 obsolete hairy ears skos:exactMatch OMIM:139500 hairy ears semapv:ManualMappingCuration MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch OMIM:139600 hairy elbows semapv:ManualMappingCuration MONDO:0007694 hairy nose tip skos:exactMatch OMIM:139630 hairy nose tip semapv:ManualMappingCuration MONDO:0007695 hairy palms and soles skos:exactMatch OMIM:139650 hairy palms and soles semapv:ManualMappingCuration MONDO:0007696 Emery-Nelson syndrome skos:exactMatch OMIM:139750 hand and foot deformity with flat facies semapv:ManualMappingCuration MONDO:0007697 hand clasping pattern skos:exactMatch OMIM:139800 hand clasping pattern semapv:ManualMappingCuration MONDO:0007698 hand-foot-genital syndrome skos:exactMatch OMIM:140000 hand-foot-genital syndrome semapv:ManualMappingCuration MONDO:0007699 Hashimoto thyroiditis skos:exactMatch OMIM:140300 hashimoto thyroiditis semapv:ManualMappingCuration MONDO:0007700 hawkinsinuria skos:exactMatch OMIM:140350 hawkinsinuria semapv:ManualMappingCuration MONDO:0007701 progressive familial heart block type II skos:exactMatch OMIM:140400 progressive familial heart block, type 2 semapv:ManualMappingCuration MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch OMIM:140450 heart-hand syndrome, spanish type semapv:ManualMappingCuration MONDO:0007704 osteoarthritis susceptibility 2 skos:exactMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:ManualMappingCuration MONDO:0007705 Heinz body anemia skos:exactMatch OMIM:140700 heinz body anemias semapv:ManualMappingCuration MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:ManualMappingCuration MONDO:0007707 hemangiomas of small intestine skos:exactMatch OMIM:140900 hemangiomas of small intestine semapv:ManualMappingCuration MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch OMIM:141000 hemangioma-thrombocytopenia syndrome semapv:ManualMappingCuration MONDO:0007709 hematuria, benign familial, 1 skos:exactMatch OMIM:141200 hematuria, benign familial, 1 semapv:ManualMappingCuration MONDO:0007710 facial hemiatrophy skos:exactMatch OMIM:141300 hemifacial atrophy, progressive semapv:ManualMappingCuration MONDO:0007711 Bencze syndrome skos:exactMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:ManualMappingCuration MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch OMIM:141400 hemifacial microsomia with radial defects semapv:ManualMappingCuration MONDO:0007713 clonic hemifacial spasm skos:exactMatch OMIM:141405 hemifacial spasm, familial semapv:ManualMappingCuration MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch OMIM:141700 hemolytic poikilocytic anemia due to reduced ankyrin binding sites semapv:ManualMappingCuration MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion type semapv:ManualMappingCuration MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch OMIM:142309 hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain semapv:ManualMappingCuration MONDO:0007718 hepatic adenomas, familial skos:exactMatch OMIM:142330 hepatic adenomas, familial semapv:ManualMappingCuration MONDO:0007719 diaphragmatic hernia 1 skos:exactMatch OMIM:142340 diaphragmatic hernia, congenital semapv:ManualMappingCuration MONDO:0007720 hernia, double inguinal skos:exactMatch OMIM:142350 hernia, double inguinal semapv:ManualMappingCuration MONDO:0007721 hiatus hernia skos:exactMatch OMIM:142400 hernia, hiatus semapv:ManualMappingCuration MONDO:0007722 heterochromia iridis skos:exactMatch OMIM:142500 heterochromia iridis semapv:ManualMappingCuration MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch OMIM:142625 hirsutism, skeletal dysplasia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch OMIM:142630 histiocytosis, progressive mucinous semapv:ManualMappingCuration MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch OMIM:142669 beukes hip dysplasia semapv:ManualMappingCuration MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:ManualMappingCuration MONDO:0007728 acne inversa, familial, 1 skos:exactMatch OMIM:142690 acne inversa, familial, 1 semapv:ManualMappingCuration MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:ManualMappingCuration MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch OMIM:142730 histiocytic dermatoarthritis semapv:ManualMappingCuration MONDO:0007731 obsolete HLA modifier skos:exactMatch OMIM:142770 hla modifier semapv:ManualMappingCuration MONDO:0007732 Holt-Oram syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:ManualMappingCuration MONDO:0007733 holoprosencephaly 3 skos:exactMatch OMIM:142945 holoprosencephaly 3 semapv:ManualMappingCuration MONDO:0007734 holoprosencephaly 4 skos:exactMatch OMIM:142946 holoprosencephaly 4 semapv:ManualMappingCuration MONDO:0007735 congenital Horner syndrome skos:exactMatch OMIM:143000 horner syndrome, congenital semapv:ManualMappingCuration MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:143050 humeroradial synostosis semapv:ManualMappingCuration MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:ManualMappingCuration MONDO:0007739 Huntington disease skos:exactMatch OMIM:143100 huntington disease semapv:ManualMappingCuration MONDO:0007740 Wagner disease skos:exactMatch OMIM:143200 wagner vitreoretinopathy semapv:ManualMappingCuration MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:exactMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:ManualMappingCuration MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:ManualMappingCuration MONDO:0007745 Gilbert syndrome skos:exactMatch OMIM:143500 gilbert syndrome semapv:ManualMappingCuration MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch OMIM:143850 orthostatic hypotensive disorder, streeten type semapv:ManualMappingCuration MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch OMIM:143860 hyperchlorhidrosis, isolated semapv:ManualMappingCuration MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:ManualMappingCuration MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:ManualMappingCuration MONDO:0007752 hyperheparinemia skos:exactMatch OMIM:144050 hyperheparinemia semapv:ManualMappingCuration MONDO:0007753 Frey syndrome skos:exactMatch OMIM:144100 hyperhidrosis, gustatory semapv:ManualMappingCuration MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:ManualMappingCuration MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch OMIM:144120 hyperimmunoglobulin g1(a1) syndrome semapv:ManualMappingCuration MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch OMIM:144150 hyperkeratosis lenticularis perstans semapv:ManualMappingCuration MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch OMIM:144190 hyperkeratosis-hyperpigmentation syndrome semapv:ManualMappingCuration MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 semapv:ManualMappingCuration MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:exactMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:ManualMappingCuration MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch OMIM:144300 hyperlipoproteinemia, type ii, and deafness semapv:ManualMappingCuration MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch OMIM:144600 hyperlipoproteinemia, type 4 semapv:ManualMappingCuration MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch OMIM:144650 hyperlipoproteinemia, type 5 semapv:ManualMappingCuration MONDO:0007763 nonpapillary renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:ManualMappingCuration MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:ManualMappingCuration MONDO:0007765 hyperostosis cranialis interna skos:exactMatch OMIM:144755 hyperostosis cranialis interna semapv:ManualMappingCuration MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch OMIM:144800 hyperostosis frontalis interna semapv:ManualMappingCuration MONDO:0007767 hyperparathyroidism 1 skos:exactMatch OMIM:145000 hyperparathyroidism 1 semapv:ManualMappingCuration MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:ManualMappingCuration MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch OMIM:145100 hyperpigmentation of eyelids semapv:ManualMappingCuration MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch OMIM:145200 hyperpigmentation of fuldauer and kuijpers semapv:ManualMappingCuration MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:ManualMappingCuration MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch OMIM:145260 pseudohypoaldosteronism, type 2a semapv:ManualMappingCuration MONDO:0007773 hyperproglucagonemia skos:exactMatch OMIM:145270 hyperproglucagonemia semapv:ManualMappingCuration MONDO:0007774 hyperreflexia skos:exactMatch OMIM:145290 hyperreflexia semapv:ManualMappingCuration MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch OMIM:145295 hypersecretion of adrenal androgens, familial semapv:ManualMappingCuration MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch OMIM:145300 hypersensitivity pneumonitis, familial semapv:ManualMappingCuration MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy semapv:ManualMappingCuration MONDO:0007778 obsolete hypertelorism skos:exactMatch OMIM:145400 hypertelorism semapv:ManualMappingCuration MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:ManualMappingCuration MONDO:0007781 essential hypertension, genetic skos:exactMatch OMIM:145500 hypertension, essential semapv:ManualMappingCuration MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:ManualMappingCuration MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:ManualMappingCuration MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:ManualMappingCuration MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch OMIM:145701 hypertrichosis universalis congenita, ambras type semapv:ManualMappingCuration MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch OMIM:145750 hypertriglyceridemia 1 semapv:ManualMappingCuration MONDO:0007789 hypertrophia musculorum vera skos:exactMatch OMIM:145800 hypertrophia musculorum vera semapv:ManualMappingCuration MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch OMIM:145900 hypertrophic neuropathy of dejerine-sottas semapv:ManualMappingCuration MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch OMIM:145980 hypocalciuric hypercalcemia, familial, type 1 semapv:ManualMappingCuration MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch OMIM:145981 hypocalciuric hypercalcemia, familial, type 2 semapv:ManualMappingCuration MONDO:0007793 hypochondroplasia skos:exactMatch OMIM:146000 hypochondroplasia semapv:ManualMappingCuration MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:ManualMappingCuration MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch OMIM:146200 hypoparathyroidism, familial isolated, 1 semapv:ManualMappingCuration MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:ManualMappingCuration MONDO:0007798 obsolete adult hypophosphatasia skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:ManualMappingCuration MONDO:0007799 hypophosphatemic bone disease skos:exactMatch OMIM:146350 hypophosphatemic bone disease semapv:ManualMappingCuration MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch OMIM:146390 chromosome 18p deletion syndrome semapv:ManualMappingCuration MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:ManualMappingCuration MONDO:0007802 hypospadias 3, autosomal skos:exactMatch OMIM:146450 hypospadias 3, autosomal semapv:ManualMappingCuration MONDO:0007804 Pallister-Hall syndrome skos:exactMatch OMIM:146510 pallister-hall syndrome semapv:ManualMappingCuration MONDO:0007805 hypotrichosis 2 skos:exactMatch OMIM:146520 hypotrichosis 2 semapv:ManualMappingCuration MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor skos:exactMatch OMIM:146580 hypoxanthine guanine phosphoribosyltransferase suppressor semapv:ManualMappingCuration MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch OMIM:146590 ichthyosis hystrix, curth-macklin type semapv:ManualMappingCuration MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch OMIM:146600 ichthyosis hystrix, lambert type semapv:ManualMappingCuration MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:ManualMappingCuration MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:ManualMappingCuration MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:ManualMappingCuration MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:ManualMappingCuration MONDO:0007814 immune deficiency, familial variable skos:exactMatch OMIM:146830 immune deficiency, familial variable semapv:ManualMappingCuration MONDO:0007816 obsolete immune suppression skos:exactMatch OMIM:146850 immune suppression semapv:ManualMappingCuration MONDO:0007817 IgE responsiveness, atopic skos:exactMatch OMIM:147050 ige responsiveness, atopic semapv:ManualMappingCuration MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections semapv:ManualMappingCuration MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch OMIM:147250 solitary median maxillary central incisor semapv:ManualMappingCuration MONDO:0007820 fused mandibular incisors skos:exactMatch OMIM:147251 incisors, fused mandibular semapv:ManualMappingCuration MONDO:0007821 obsolete immunoglobulin switch sequences skos:exactMatch OMIM:147260 immunoglobulin switch sequences semapv:ManualMappingCuration MONDO:0007822 obsolete incisors, long upper central skos:exactMatch OMIM:147300 incisors, long upper central semapv:ManualMappingCuration MONDO:0007823 obsolete insulin receptors, familial increase 1N skos:exactMatch OMIM:147320 insulin receptors, familial increase 1n semapv:ManualMappingCuration MONDO:0007824 incisors, lower central, absence of skos:exactMatch OMIM:147330 incisors, lower central, absence of semapv:ManualMappingCuration MONDO:0007825 incisors, rotation of upper central skos:exactMatch OMIM:147350 incisors, rotation of upper central semapv:ManualMappingCuration MONDO:0007826 incisors, shovel-shaped skos:exactMatch OMIM:147400 incisors, shovel-shaped semapv:ManualMappingCuration MONDO:0007827 inclusion body myositis skos:exactMatch OMIM:147421 inclusion body myositis semapv:ManualMappingCuration MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:exactMatch OMIM:147430 marsili syndrome semapv:ManualMappingCuration MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:ManualMappingCuration MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy skos:exactMatch OMIM:147530 insensitivity to pain with hyperplastic myelinopathy semapv:ManualMappingCuration MONDO:0007831 insect Stings, hypersensitivity to skos:exactMatch OMIM:147540 insect stings, hypersensitivity to semapv:ManualMappingCuration MONDO:0007832 interferon antiviral depressor skos:exactMatch OMIM:147560 interferon antiviral depressor semapv:ManualMappingCuration MONDO:0007833 iris pigment layer, cleavage of skos:exactMatch OMIM:147610 iris pigment layer, cleavage of semapv:ManualMappingCuration MONDO:0007834 islet cell adenomatosis skos:exactMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:ManualMappingCuration MONDO:0007835 intussusception skos:exactMatch OMIM:147710 intussusception semapv:ManualMappingCuration MONDO:0007836 IVIC syndrome skos:exactMatch OMIM:147750 IVIC syndrome semapv:ManualMappingCuration MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch OMIM:147770 johnson neuroectodermal syndrome semapv:ManualMappingCuration MONDO:0007838 Jacobsen syndrome skos:exactMatch OMIM:147791 jacobsen syndrome semapv:ManualMappingCuration MONDO:0007839 Aase-Smith syndrome skos:exactMatch OMIM:147800 aase-smith syndrome 1 semapv:ManualMappingCuration MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch OMIM:147820 internal carotid artery, spontaneous dissection of semapv:ManualMappingCuration MONDO:0007841 coxopodopatellar syndrome skos:exactMatch OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension semapv:ManualMappingCuration MONDO:0007842 joint laxity, familial skos:exactMatch OMIM:147900 joint laxity, familial semapv:ManualMappingCuration MONDO:0007843 Kabuki syndrome 1 skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:ManualMappingCuration MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:ManualMappingCuration MONDO:0007845 Kaposi sarcoma, susceptibility to skos:exactMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:ManualMappingCuration MONDO:0007846 KBG syndrome skos:exactMatch OMIM:148050 kbg syndrome semapv:ManualMappingCuration MONDO:0007847 keloid formation skos:exactMatch OMIM:148100 keloid formation semapv:ManualMappingCuration MONDO:0007848 autosomal dominant keratitis skos:exactMatch OMIM:148190 keratitis, hereditary semapv:ManualMappingCuration MONDO:0007849 keratitis fugax hereditaria skos:exactMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:ManualMappingCuration MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0007851 keratoconus 1 skos:exactMatch OMIM:148300 keratoconus 1 semapv:ManualMappingCuration MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:ManualMappingCuration MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:ManualMappingCuration MONDO:0007854 keratolytic winter erythema skos:exactMatch OMIM:148370 keratolytic winter erythema semapv:ManualMappingCuration MONDO:0007855 keratosis, familial actinic skos:exactMatch OMIM:148390 keratosis, familial actinic semapv:ManualMappingCuration MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch OMIM:148500 tylosis with esophageal cancer semapv:ManualMappingCuration MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:ManualMappingCuration MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:exactMatch OMIM:148600 palmoplantar keratoderma, punctate type 1a semapv:ManualMappingCuration MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:ManualMappingCuration MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:ManualMappingCuration MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch OMIM:148800 kleeblattschaedel semapv:ManualMappingCuration MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch OMIM:148820 waardenburg syndrome, type 3 semapv:ManualMappingCuration MONDO:0007863 Kleine-Levin syndrome skos:exactMatch OMIM:148840 kleine-levin hibernation syndrome semapv:ManualMappingCuration MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:ManualMappingCuration MONDO:0007865 knuckle pads skos:exactMatch OMIM:149100 knuckle pads semapv:ManualMappingCuration MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch OMIM:149200 bart-pumphrey syndrome semapv:ManualMappingCuration MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:ManualMappingCuration MONDO:0007868 hyperekplexia 1 skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:ManualMappingCuration MONDO:0007869 Kyrle disease skos:exactMatch OMIM:149500 kyrle disease semapv:ManualMappingCuration MONDO:0007870 labia minora, incomplete adhesion of skos:exactMatch OMIM:149600 labia minora, incomplete adhesion of semapv:ManualMappingCuration MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch OMIM:149700 lacrimal duct defect semapv:ManualMappingCuration MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch OMIM:150170 lactic acidosis, chronic adult form semapv:ManualMappingCuration MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch OMIM:150230 trichorhinophalangeal syndrome, type 2 semapv:ManualMappingCuration MONDO:0007875 Larsen syndrome skos:exactMatch OMIM:150250 larsen syndrome semapv:ManualMappingCuration MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:150260 laryngeal abductor paralysis semapv:ManualMappingCuration MONDO:0007877 laryngeal adductor paralysis skos:exactMatch OMIM:150270 laryngeal adductor paralysis semapv:ManualMappingCuration MONDO:0007878 congenital laryngomalacia skos:exactMatch OMIM:150280 laryngomalacia semapv:ManualMappingCuration MONDO:0007879 larynx atresia skos:exactMatch OMIM:150300 larynx, congenital partial atresia of semapv:ManualMappingCuration MONDO:0007880 congenital laryngeal web skos:exactMatch OMIM:150360 laryngeal web, familial semapv:ManualMappingCuration MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch OMIM:150400 tooth agenesis, selective, 4 semapv:ManualMappingCuration MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch OMIM:150500 lattice degeneration of retina leading to retinal detachment semapv:ManualMappingCuration MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:ManualMappingCuration MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch OMIM:150590 leg ulcers, familial, of juvenile onset semapv:ManualMappingCuration MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch OMIM:150600 legg-calve-perthes disease semapv:ManualMappingCuration MONDO:0007886 uterine corpus leiomyoma skos:exactMatch OMIM:150699 leiomyoma, uterine semapv:ManualMappingCuration MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:ManualMappingCuration MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:ManualMappingCuration MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch OMIM:151000 lentiginosis, centrofacial neurodysraphic semapv:ManualMappingCuration MONDO:0007891 familial generalized lentiginosis skos:exactMatch OMIM:151001 lentiginosis, inherited patterned semapv:ManualMappingCuration MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:ManualMappingCuration MONDO:0007894 Leri pleonosteosis skos:exactMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:ManualMappingCuration MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance type semapv:ManualMappingCuration MONDO:0007896 acute monocytic leukemia skos:exactMatch OMIM:151380 leukemia, acute monocytic semapv:ManualMappingCuration MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch OMIM:151500 leukocyte nuclear appendages, hereditary prevalence of semapv:ManualMappingCuration MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch OMIM:151590 lichen sclerosus et atrophicus semapv:ManualMappingCuration MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:ManualMappingCuration MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch OMIM:151610 oculomotor-levator synkinesis semapv:ManualMappingCuration MONDO:0007902 lichen planus, familial skos:exactMatch OMIM:151620 lichen planus, familial semapv:ManualMappingCuration MONDO:0007904 median nodule of the upper lip skos:exactMatch OMIM:151630 lip, median nodule of upper semapv:ManualMappingCuration MONDO:0007905 lip, hamartomatous skos:exactMatch OMIM:151640 lip, hamartomatous semapv:ManualMappingCuration MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch OMIM:151660 lipodystrophy, familial partial, type 2 semapv:ManualMappingCuration MONDO:0007907 lipoma of the conjunctiva skos:exactMatch OMIM:151700 lipoma of the conjunctiva semapv:ManualMappingCuration MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy semapv:ManualMappingCuration MONDO:0007909 familial multiple lipomatosis skos:exactMatch OMIM:151900 lipomatosis, familial multiple semapv:ManualMappingCuration MONDO:0007910 lipoprotein types--Lt system skos:exactMatch OMIM:152300 lipoprotein types--lt system semapv:ManualMappingCuration MONDO:0007911 lipoprotein, variant of beta skos:exactMatch OMIM:152400 lipoprotein, variant of beta semapv:ManualMappingCuration MONDO:0007912 lithium transport skos:exactMatch OMIM:152420 lithium transport semapv:ManualMappingCuration MONDO:0007913 low density lipoprotein, variation in molecular weight of skos:exactMatch OMIM:152450 low density lipoprotein, variation 1n molecular weight of semapv:ManualMappingCuration MONDO:0007914 lumbar stenosis, familial skos:exactMatch OMIM:152550 lumbar stenosis, familial semapv:ManualMappingCuration MONDO:0007915 systemic lupus erythematosus skos:exactMatch OMIM:152700 systemic lupus erythematosus semapv:ManualMappingCuration MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch OMIM:152800 lymphangiectasia, intestinal semapv:ManualMappingCuration MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:ManualMappingCuration MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:ManualMappingCuration MONDO:0007919 lymphatic malformation 1 skos:exactMatch OMIM:153100 lymphatic malformation 1 semapv:ManualMappingCuration MONDO:0007920 lymphatic malformation 5 skos:exactMatch OMIM:153200 lymphatic malformation 5 semapv:ManualMappingCuration MONDO:0007921 yellow nail syndrome skos:exactMatch OMIM:153300 yellow nail syndrome semapv:ManualMappingCuration MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:ManualMappingCuration MONDO:0007923 macrocephaly, benign familial skos:exactMatch OMIM:153470 macrocephaly, benign familial semapv:ManualMappingCuration MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch OMIM:153550 chromosome 5q deletion syndrome semapv:ManualMappingCuration MONDO:0007927 congenital macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:ManualMappingCuration MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch OMIM:153670 bernard-soulier syndrome, type a2, autosomal dominant semapv:ManualMappingCuration MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:ManualMappingCuration MONDO:0007932 age related macular degeneration 2 skos:exactMatch OMIM:153800 macular degeneration, age-related, 2 semapv:ManualMappingCuration MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:ManualMappingCuration MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch OMIM:153870 retinitis pigmentosa 91 semapv:ManualMappingCuration MONDO:0007935 cystoid macular edema skos:exactMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:ManualMappingCuration MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch OMIM:153890 macular dystrophy, fenestrated sheen type semapv:ManualMappingCuration MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch OMIM:154020 hypomagnesemia 2, renal semapv:ManualMappingCuration MONDO:0007938 46,XY sex reversal 4 skos:exactMatch OMIM:154230 46,xy sex reversal 4 semapv:ManualMappingCuration MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0007941 malocclusion due to protuberant upper front teeth skos:exactMatch OMIM:154300 malocclusion due to protuberant upper front teeth semapv:ManualMappingCuration MONDO:0007942 Mammastatin skos:exactMatch OMIM:154370 mammastatin semapv:ManualMappingCuration MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch OMIM:154400 acrofacial dysostosis 1, nager type semapv:ManualMappingCuration MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:ManualMappingCuration MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese type semapv:ManualMappingCuration MONDO:0007946 jaw-winking syndrome skos:exactMatch OMIM:154600 marcus gunn phenomenon semapv:ManualMappingCuration MONDO:0007947 Marfan syndrome skos:exactMatch OMIM:154700 marfan syndrome semapv:ManualMappingCuration MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch OMIM:154750 marfanoid hypermobility syndrome semapv:ManualMappingCuration MONDO:0007949 Marshall syndrome skos:exactMatch OMIM:154780 marshall syndrome semapv:ManualMappingCuration MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:ManualMappingCuration MONDO:0007952 maxillofacial dysostosis skos:exactMatch OMIM:155000 maxillofacial dysostosis semapv:ManualMappingCuration MONDO:0007953 Binder syndrome skos:exactMatch OMIM:155050 maxillonasal dysplasia, binder type semapv:ManualMappingCuration MONDO:0007955 Meckel diverticulum skos:exactMatch OMIM:155140 meckel diverticulum semapv:ManualMappingCuration MONDO:0007956 Pai syndrome skos:exactMatch OMIM:155145 cleft, median, of upper 51p with polyps of facial skin and nasal mucosa semapv:ManualMappingCuration MONDO:0007957 mediosternal depigmentation line skos:exactMatch OMIM:155200 mediosternal depigmentation line semapv:ManualMappingCuration MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:ManualMappingCuration MONDO:0007959 medulloblastoma skos:exactMatch OMIM:155255 medulloblastoma semapv:ManualMappingCuration MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch OMIM:155350 megalencephaly, autosomal dominant semapv:ManualMappingCuration MONDO:0007962 megalodactyly skos:exactMatch OMIM:155500 macrodactyly semapv:ManualMappingCuration MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch OMIM:155700 melanoma, malignant familial intraocular semapv:ManualMappingCuration MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch OMIM:155755 melanoma-astrocytoma syndrome semapv:ManualMappingCuration MONDO:0007968 melanoma tumor antigen Gp90 skos:exactMatch OMIM:155770 melanoma tumor antigen GP90 semapv:ManualMappingCuration MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch OMIM:155900 melkersson-rosenthal syndrome semapv:ManualMappingCuration MONDO:0007970 melorheostosis skos:exactMatch OMIM:155950 melorheostosis, isolated semapv:ManualMappingCuration MONDO:0007971 delayed membranous cranial ossification skos:exactMatch OMIM:155980 membranous cranial ossification, delayed semapv:ManualMappingCuration MONDO:0007972 Meniere disease skos:exactMatch OMIM:156000 meniere disease semapv:ManualMappingCuration MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch OMIM:156190 mental and growth retardation with amblyopia semapv:ManualMappingCuration MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch OMIM:156220 meralgia paraesthetica, familial semapv:ManualMappingCuration MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch OMIM:156230 mesomelic dwarfism of hypoplastic tibia and radius type semapv:ManualMappingCuration MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch OMIM:156232 mesomelic dysplasia, kantaputra type semapv:ManualMappingCuration MONDO:0007979 metachondromatosis skos:exactMatch OMIM:156250 metachondromatosis semapv:ManualMappingCuration MONDO:0007980 metachromasia of fibroblasts skos:exactMatch OMIM:156300 metachromasia of fibroblasts semapv:ManualMappingCuration MONDO:0007981 obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:exactMatch OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a semapv:ManualMappingCuration MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch OMIM:156400 metaphyseal chondrodysplasia, jansen type semapv:ManualMappingCuration MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch OMIM:156500 metaphyseal chondrodysplasia, schmid type semapv:ManualMappingCuration MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:ManualMappingCuration MONDO:0007985 metatarsus varus, type 1 skos:exactMatch OMIM:156520 metatarsus varus, type 1 semapv:ManualMappingCuration MONDO:0007986 metatropic dysplasia skos:exactMatch OMIM:156530 metatropic dysplasia semapv:ManualMappingCuration MONDO:0007987 Kniest dysplasia skos:exactMatch OMIM:156550 kniest dysplasia semapv:ManualMappingCuration MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch OMIM:156580 microcephaly, autosomal dominant semapv:ManualMappingCuration MONDO:0007989 congenital microcoria skos:exactMatch OMIM:156600 microcoria, congenital semapv:ManualMappingCuration MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch OMIM:156620 microcephaly-deafness syndrome semapv:ManualMappingCuration MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:ManualMappingCuration MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch OMIM:156810 microgastria-limb reduction defects association semapv:ManualMappingCuration MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch OMIM:156830 micromelic bone dysplasia with cloverleaf skull semapv:ManualMappingCuration MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:ManualMappingCuration MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:ManualMappingCuration MONDO:0007997 microspherophakia with hernia skos:exactMatch OMIM:157150 microspherophakia with hernia semapv:ManualMappingCuration MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:ManualMappingCuration MONDO:0007999 holoprosencephaly 2 skos:exactMatch OMIM:157170 holoprosencephaly 2 semapv:ManualMappingCuration MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0008001 milia, multiple eruptive skos:exactMatch OMIM:157400 milia, multiple eruptive semapv:ManualMappingCuration MONDO:0008002 mirror movements 1 skos:exactMatch OMIM:157600 mirror movements 1 semapv:ManualMappingCuration MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:ManualMappingCuration MONDO:0008006 Mobius syndrome skos:exactMatch OMIM:157900 moebius syndrome semapv:ManualMappingCuration MONDO:0008007 tooth ankylosis skos:exactMatch OMIM:157950 permanent molars, secondary retention of semapv:ManualMappingCuration MONDO:0008008 MOMO syndrome skos:exactMatch OMIM:157980 momo syndrome semapv:ManualMappingCuration MONDO:0008009 monilethrix skos:exactMatch OMIM:158000 monilethrix 1 semapv:ManualMappingCuration MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:exactMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:ManualMappingCuration MONDO:0008011 antigen defined by monoclonal antibody T87 skos:exactMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:ManualMappingCuration MONDO:0008012 Monophalangy of great toe skos:exactMatch OMIM:158100 monophalangy of great toe semapv:ManualMappingCuration MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch OMIM:158170 chromosome 9p deletion syndrome semapv:ManualMappingCuration MONDO:0008014 nondisjunction skos:exactMatch OMIM:158250 nondisjunction semapv:ManualMappingCuration MONDO:0008015 motion sickness skos:exactMatch OMIM:158280 motion sickness semapv:ManualMappingCuration MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch OMIM:158300 arthrogryposis, distal, type 7 semapv:ManualMappingCuration MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch OMIM:158310 mucoepithelial dysplasia, hereditary semapv:ManualMappingCuration MONDO:0008018 Muir-Torre syndrome skos:exactMatch OMIM:158320 muir-torre syndrome semapv:ManualMappingCuration MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch OMIM:158330 mullerian aplasia and hyperandrogenism semapv:ManualMappingCuration MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch OMIM:158345 multiple exostoses with spastic tetraparesis semapv:ManualMappingCuration MONDO:0008021 Cowden syndrome 1 skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:ManualMappingCuration MONDO:0008022 muscle cramps, familial skos:exactMatch OMIM:158400 muscle cramps, familial semapv:ManualMappingCuration MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:ManualMappingCuration MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch OMIM:158580 neuronopathy, distal hereditary motor, autosomal dominant 7 semapv:ManualMappingCuration MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch OMIM:158590 neuronopathy, distal hereditary motor, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:ManualMappingCuration MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch OMIM:158650 muscular atrophy, malignant neurogenic semapv:ManualMappingCuration MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch OMIM:158800 muscular dystrophy, barnes type semapv:ManualMappingCuration MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:ManualMappingCuration MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:ManualMappingCuration MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:ManualMappingCuration MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch OMIM:159100 muscular hypoplasia, congenital universal, of krabbe semapv:ManualMappingCuration MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:ManualMappingCuration MONDO:0008037 myelinated optic nerve fibers skos:exactMatch OMIM:159500 myelinated optic nerve fibers semapv:ManualMappingCuration MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch OMIM:159550 ataxia-pancytopenia syndrome semapv:ManualMappingCuration MONDO:0008039 tropical spastic paraparesis skos:exactMatch OMIM:159580 myelopathy, htlv-1-associated semapv:ManualMappingCuration MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch OMIM:159595 myeloproliferative syndrome, transient semapv:ManualMappingCuration MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch OMIM:159600 myoclonic epilepsy, hartung type semapv:ManualMappingCuration MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:ManualMappingCuration MONDO:0008044 myoclonic dystonia 11 skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:ManualMappingCuration MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:ManualMappingCuration MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch OMIM:160010 myoglobinuria, autosomal dominant semapv:ManualMappingCuration MONDO:0008047 episodic ataxia type 1 skos:exactMatch OMIM:160120 episodic ataxia, type 1 semapv:ManualMappingCuration MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch OMIM:160150 myopathy, centronuclear, 1 semapv:ManualMappingCuration MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch OMIM:160300 myopathy, distal, infantile-onset semapv:ManualMappingCuration MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch OMIM:160500 myopathy, distal, 1 semapv:ManualMappingCuration MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans semapv:ManualMappingCuration MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch OMIM:160700 myopia 2, autosomal dominant semapv:ManualMappingCuration MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:ManualMappingCuration MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch OMIM:160900 myotonic dystrophy 1 semapv:ManualMappingCuration MONDO:0008057 Carney complex, type 1 skos:exactMatch OMIM:160980 carney complex, type 1 semapv:ManualMappingCuration MONDO:0008058 cylindrical spirals myopathy skos:exactMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:ManualMappingCuration MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:ManualMappingCuration MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:ManualMappingCuration MONDO:0008061 nail-patella syndrome skos:exactMatch OMIM:161200 nail-patella syndrome semapv:ManualMappingCuration MONDO:0008062 narcolepsy 1 skos:exactMatch OMIM:161400 narcolepsy 1 semapv:ManualMappingCuration MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch OMIM:161470 nasal alar collapse, bilateral semapv:ManualMappingCuration MONDO:0008064 nasal bones, absence of skos:exactMatch OMIM:161480 nasal bones, absence of semapv:ManualMappingCuration MONDO:0008065 nasal groove, familial transverse skos:exactMatch OMIM:161500 nasal groove, familial transverse semapv:ManualMappingCuration MONDO:0008066 nasal hyperpigmentation, familial transverse skos:exactMatch OMIM:161530 nasal hyperpigmentation, familial transverse semapv:ManualMappingCuration MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0008068 obsolete navicular bone, accessory skos:exactMatch OMIM:161600 navicular bone, accessory semapv:ManualMappingCuration MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:ManualMappingCuration MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:ManualMappingCuration MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch OMIM:161900 renal failure, progressive, with hypertension semapv:ManualMappingCuration MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:exactMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:ManualMappingCuration MONDO:0008076 amyotrophic neuralgia skos:exactMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:ManualMappingCuration MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch OMIM:162210 neurofibromatosis, familial spinal semapv:ManualMappingCuration MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:ManualMappingCuration MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch OMIM:162260 neurofibromatosis, type iii, mixed central and peripheral semapv:ManualMappingCuration MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch OMIM:162270 neurofibromatosis, type iv, of riccardi semapv:ManualMappingCuration MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch OMIM:162300 multiple endocrine neoplasia, type 2b semapv:ManualMappingCuration MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch OMIM:162350 ceroid lipofuscinosis, neuronal, 4 (kufs type) semapv:ManualMappingCuration MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch OMIM:162370 neuropathy, congenital, with arthrogryposis multiplex semapv:ManualMappingCuration MONDO:0008085 obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch OMIM:162380 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance semapv:ManualMappingCuration MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, type 1a semapv:ManualMappingCuration MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:ManualMappingCuration MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch OMIM:162600 neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine semapv:ManualMappingCuration MONDO:0008089 neutropenia, chronic familial skos:exactMatch OMIM:162700 neutropenia, chronic familial semapv:ManualMappingCuration MONDO:0008090 cyclic hematopoiesis skos:exactMatch OMIM:162800 cyclic neutropenia semapv:ManualMappingCuration MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:ManualMappingCuration MONDO:0008092 hereditary neutrophilia skos:exactMatch OMIM:162830 neutrophilia, hereditary semapv:ManualMappingCuration MONDO:0008093 nevus, epidermal skos:exactMatch OMIM:162900 nevus, epidermal semapv:ManualMappingCuration MONDO:0008094 familial multiple nevi flammei skos:exactMatch OMIM:163000 capillary malformations, congenital semapv:ManualMappingCuration MONDO:0008095 nevus anemicus skos:exactMatch OMIM:163050 nevus anemicus semapv:ManualMappingCuration MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch OMIM:163100 nevus flammeus of nape of neck semapv:ManualMappingCuration MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:ManualMappingCuration MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch OMIM:163400 nievergelt syndrome semapv:ManualMappingCuration MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0008100 nipples inverted skos:exactMatch OMIM:163600 nipples inverted semapv:ManualMappingCuration MONDO:0008101 familial supernumerary nipples skos:exactMatch OMIM:163700 nipples, supernumerary semapv:ManualMappingCuration MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch OMIM:163800 sick sinus syndrome 2 semapv:ManualMappingCuration MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch OMIM:163850 noduli cutanei, multiple, with urinary tract abnormalities semapv:ManualMappingCuration MONDO:0008104 Noonan syndrome 1 skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:ManualMappingCuration MONDO:0008105 nose, anomalous shape of skos:exactMatch OMIM:164000 nose, anomalous shape of semapv:ManualMappingCuration MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:ManualMappingCuration MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch OMIM:164150 nystagmus, hereditary vertical semapv:ManualMappingCuration MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch OMIM:164180 oculocerebrocutaneous syndrome semapv:ManualMappingCuration MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch OMIM:164185 ocular cicatricial pemphigoid semapv:ManualMappingCuration MONDO:0008110 obsolete ocular dominance skos:exactMatch OMIM:164190 ocular dominance semapv:ManualMappingCuration MONDO:0008111 oculodentodigital dysplasia skos:exactMatch OMIM:164200 oculodentodigital dysplasia semapv:ManualMappingCuration MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch OMIM:164220 schilbach-rott syndrome semapv:ManualMappingCuration MONDO:0008114 obsessive-compulsive disorder skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:ManualMappingCuration MONDO:0008115 Feingold syndrome type 1 skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:ManualMappingCuration MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch OMIM:164330 odontoma-dysphagia syndrome semapv:ManualMappingCuration MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch OMIM:164400 spinocerebellar ataxia 1 semapv:ManualMappingCuration MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair semapv:ManualMappingCuration MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch OMIM:164745 omodysplasia 2 semapv:ManualMappingCuration MONDO:0008124 omphalocele, autosomal skos:exactMatch OMIM:164750 omphalocele, autosomal semapv:ManualMappingCuration MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:ManualMappingCuration MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:ManualMappingCuration MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch OMIM:164900 ophthalmomandibulomelic dysplasia semapv:ManualMappingCuration MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch OMIM:165000 ophthalmoplegia, familial static semapv:ManualMappingCuration MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch OMIM:165098 ophthalmoplegia, familial total, with iris transillumination semapv:ManualMappingCuration MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:ManualMappingCuration MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch OMIM:165199 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant semapv:ManualMappingCuration MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch OMIM:165200 optic atrophy with demyelinating disease of cns semapv:ManualMappingCuration MONDO:0008133 optic atrophy 3 skos:exactMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:ManualMappingCuration MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch OMIM:165500 optic atrophy 1 semapv:ManualMappingCuration MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities semapv:ManualMappingCuration MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:ManualMappingCuration MONDO:0008137 orofaciodigital syndrome X skos:exactMatch OMIM:165590 orofaciodigital syndrome 10 semapv:ManualMappingCuration MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch OMIM:165600 orbital margin, hypoplasia of semapv:ManualMappingCuration MONDO:0008139 OSLAM syndrome skos:exactMatch OMIM:165660 oslam syndrome semapv:ManualMappingCuration MONDO:0008140 ossified ear cartilages skos:exactMatch OMIM:165670 ossified ear cartilages semapv:ManualMappingCuration MONDO:0008141 ossicular malformations, familial skos:exactMatch OMIM:165680 ossicular malformations, familial semapv:ManualMappingCuration MONDO:0008142 Thiemann disease, familial form skos:exactMatch OMIM:165700 thiemann disease semapv:ManualMappingCuration MONDO:0008143 osteoarthritis susceptibility 1 skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:ManualMappingCuration MONDO:0008145 Ollier disease skos:exactMatch OMIM:166000 enchondromatosis, multiple, ollier type semapv:ManualMappingCuration MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch OMIM:166200 osteogenesis imperfecta, type 1 semapv:ManualMappingCuration MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch OMIM:166210 osteogenesis imperfecta, type 2 semapv:ManualMappingCuration MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch OMIM:166220 osteogenesis imperfecta, type 4 semapv:ManualMappingCuration MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:ManualMappingCuration MONDO:0008150 osteoglophonic dwarfism skos:exactMatch OMIM:166250 osteoglophonic dysplasia semapv:ManualMappingCuration MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:ManualMappingCuration MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:ManualMappingCuration MONDO:0008153 progressive osseous heteroplasia skos:exactMatch OMIM:166350 osseous heteroplasia, progressive semapv:ManualMappingCuration MONDO:0008154 osteomas of mandible skos:exactMatch OMIM:166400 osteomas of mandible semapv:ManualMappingCuration MONDO:0008155 osteomesopyknosis skos:exactMatch OMIM:166450 osteomesopyknosis semapv:ManualMappingCuration MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch OMIM:166700 buschke-ollendorff syndrome semapv:ManualMappingCuration MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:ManualMappingCuration MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:ManualMappingCuration MONDO:0008161 otodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:ManualMappingCuration MONDO:0008162 otitis media, susceptibility to skos:exactMatch OMIM:166760 otitis media, susceptibility to semapv:ManualMappingCuration MONDO:0008164 otosclerosis 1 skos:exactMatch OMIM:166800 otosclerosis 1 semapv:ManualMappingCuration MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch OMIM:166900 ovalocytosis, southeast asian semapv:ManualMappingCuration MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis semapv:ManualMappingCuration MONDO:0008167 dermoid cyst of ovary skos:exactMatch OMIM:166950 teratoma, ovarian semapv:ManualMappingCuration MONDO:0008168 ovarian fibroma skos:exactMatch OMIM:166970 ovarian fibromata semapv:ManualMappingCuration MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch OMIM:166990 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension semapv:ManualMappingCuration MONDO:0008170 ovarian cancer skos:exactMatch OMIM:167000 ovarian cancer semapv:ManualMappingCuration MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:ManualMappingCuration MONDO:0008173 pachyonychia congenita 1 skos:exactMatch OMIM:167200 pachyonychia congenita 1 semapv:ManualMappingCuration MONDO:0008174 pachyonychia congenita 2 skos:exactMatch OMIM:167210 pachyonychia congenita 2 semapv:ManualMappingCuration MONDO:0008175 pacman dysplasia skos:exactMatch OMIM:167220 pacman dysplasia semapv:ManualMappingCuration MONDO:0008176 Paget disease of bone 3 skos:exactMatch OMIM:167250 paget disease of bone 3 semapv:ManualMappingCuration MONDO:0008177 extramammary Paget disease skos:exactMatch OMIM:167300 paget disease, extramammary semapv:ManualMappingCuration MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:ManualMappingCuration MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch OMIM:167400 paroxysmal extreme pain disorder semapv:ManualMappingCuration MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch OMIM:167500 palatopharyngeal incompetence semapv:ManualMappingCuration MONDO:0008181 palmaris longus muscle, absence of skos:exactMatch OMIM:167600 palmaris longus muscle, absence of semapv:ManualMappingCuration MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:ManualMappingCuration MONDO:0008183 annular pancreas skos:exactMatch OMIM:167750 pancreas, annular semapv:ManualMappingCuration MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch OMIM:167755 pancreas, dorsal, agenesis of semapv:ManualMappingCuration MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:ManualMappingCuration MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch OMIM:167850 pancytopenia and occlusive vascular disease semapv:ManualMappingCuration MONDO:0008187 panic disorder 1 skos:exactMatch OMIM:167870 panic disorder 1 semapv:ManualMappingCuration MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:ManualMappingCuration MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch OMIM:167950 papillomatosis, florid, of nipple semapv:ManualMappingCuration MONDO:0008190 obsolete human papillomavirus type 18 integration site 1 skos:exactMatch OMIM:167959 human papillomavirus type 18 integration site 1 semapv:ManualMappingCuration MONDO:0008191 obsolete human papillomavirus type 18 integration site 2 skos:exactMatch OMIM:167960 human papillomavirus type 18 integration site 2 semapv:ManualMappingCuration MONDO:0008192 paragangliomas 1 skos:exactMatch OMIM:168000 pheochromocytoma/paraganglioma syndrome 1 semapv:ManualMappingCuration MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:ManualMappingCuration MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch OMIM:168200 paramolar tubercle of bolk semapv:ManualMappingCuration MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch OMIM:168300 paramyotonia congenita semapv:ManualMappingCuration MONDO:0008196 parastremmatic dwarfism skos:exactMatch OMIM:168400 parastremmatic dwarfism semapv:ManualMappingCuration MONDO:0008197 parietal foramina 1 skos:exactMatch OMIM:168500 parietal foramina 1 semapv:ManualMappingCuration MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:ManualMappingCuration MONDO:0008199 late-onset Parkinson disease skos:exactMatch OMIM:168600 parkinson disease, late-onset semapv:ManualMappingCuration MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:ManualMappingCuration MONDO:0008201 Perry syndrome skos:exactMatch OMIM:168605 perry syndrome semapv:ManualMappingCuration MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch OMIM:168800 parotidomegaly, hereditary bilateral semapv:ManualMappingCuration MONDO:0008203 Passovoy factor defect skos:exactMatch OMIM:168830 passovoy factor defect semapv:ManualMappingCuration MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:ManualMappingCuration MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch OMIM:168860 patella aplasia-hypoplasia semapv:ManualMappingCuration MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch OMIM:168885 neuroocular syndrome 2, paroxysmal type semapv:ManualMappingCuration MONDO:0008207 chondromalacia patellae skos:exactMatch OMIM:168900 patella, chondromalacia of semapv:ManualMappingCuration MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch OMIM:169000 patella, familial recurrent dislocation of semapv:ManualMappingCuration MONDO:0008209 Char syndrome skos:exactMatch OMIM:169100 CHAR syndrome semapv:ManualMappingCuration MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:ManualMappingCuration MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:ManualMappingCuration MONDO:0008212 Pechet factor deficiency skos:exactMatch OMIM:169200 pechet factor deficiency semapv:ManualMappingCuration MONDO:0008213 pectus excavatum skos:exactMatch OMIM:169300 pectus excavatum semapv:ManualMappingCuration MONDO:0008214 Pelger-Huet anomaly skos:exactMatch OMIM:169400 pelger-huet anomaly semapv:ManualMappingCuration MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch OMIM:169545 pelvic lipomatosis with crossed renal ectopia semapv:ManualMappingCuration MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch OMIM:169550 pelvis-shoulder dysplasia semapv:ManualMappingCuration MONDO:0008218 Hailey-Hailey disease skos:exactMatch OMIM:169600 hailey-hailey disease semapv:ManualMappingCuration MONDO:0008219 pemphigus vulgaris skos:exactMatch OMIM:169610 pemphigus vulgaris, familial semapv:ManualMappingCuration MONDO:0008220 obsolete pepsinogen 3, group 1 skos:exactMatch OMIM:169710 pepsinogen 3, group 1 semapv:ManualMappingCuration MONDO:0008221 prolidase deficiency skos:exactMatch OMIM:170100 prolidase deficiency semapv:ManualMappingCuration MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch OMIM:170390 andersen cardiodysrhythmic periodic paralysis semapv:ManualMappingCuration MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch OMIM:170500 hyperkalemic periodic paralysis semapv:ManualMappingCuration MONDO:0008225 normokalemic periodic paralysis skos:exactMatch OMIM:170600 normokalemic periodic paralysis semapv:ManualMappingCuration MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch OMIM:170650 periodontitis, aggressive, 1 semapv:ManualMappingCuration MONDO:0008227 peripheral dysostosis skos:exactMatch OMIM:170700 peripheral dysostosis semapv:ManualMappingCuration MONDO:0008228 pernicious anemia skos:exactMatch OMIM:170900 pernicious anemia semapv:ManualMappingCuration MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch OMIM:170980 peroneal nerve, accessory deep semapv:ManualMappingCuration MONDO:0008230 peroxidase, salivary skos:exactMatch OMIM:170990 peroxidase, salivary semapv:ManualMappingCuration MONDO:0008231 Peyronie disease skos:exactMatch OMIM:171000 peyronie disease semapv:ManualMappingCuration MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch OMIM:171100 phagocytosis, plasma-related defect 1n semapv:ManualMappingCuration MONDO:0008233 pheochromocytoma skos:exactMatch OMIM:171300 pheochromocytoma semapv:ManualMappingCuration MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch OMIM:171400 multiple endocrine neoplasia, type 2a semapv:ManualMappingCuration MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch OMIM:171420 pheochromocytoma--islet cell tumor syndrome semapv:ManualMappingCuration MONDO:0008236 phlebectasia of lips skos:exactMatch OMIM:171450 phlebectasia of lips semapv:ManualMappingCuration MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:ManualMappingCuration MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171660 phosphatase, acid, of tissues semapv:ManualMappingCuration MONDO:0008239 phosphoglucomutase 4 skos:exactMatch OMIM:172110 phosphoglucomutase 4 semapv:ManualMappingCuration MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:ManualMappingCuration MONDO:0008241 phosphoglycoprotein 1 skos:exactMatch OMIM:172290 phosphoglycoprotein 1 semapv:ManualMappingCuration MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:ManualMappingCuration MONDO:0008243 Pick disease skos:exactMatch OMIM:172700 pick disease of brain semapv:ManualMappingCuration MONDO:0008244 piebaldism skos:exactMatch OMIM:172800 piebald trait semapv:ManualMappingCuration MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch OMIM:172850 piebald trait with neurologic defects semapv:ManualMappingCuration MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:ManualMappingCuration MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:ManualMappingCuration MONDO:0008248 pigmented purpuric eruption skos:exactMatch OMIM:172900 pigmented purpuric eruption semapv:ManualMappingCuration MONDO:0008249 pilonidal sinus skos:exactMatch OMIM:173000 pilonidal sinus semapv:ManualMappingCuration MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch OMIM:173100 isolated growth hormone deficiency, type 2 semapv:ManualMappingCuration MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:ManualMappingCuration MONDO:0008252 platelet adenylate cyclase activity skos:exactMatch OMIM:173395 platelet adenylate cyclase activity semapv:ManualMappingCuration MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch OMIM:173400 platelet aggregation, spontaneous semapv:ManualMappingCuration MONDO:0008254 platelet disorder, undefined skos:exactMatch OMIM:173420 platelet disorder, undefined semapv:ManualMappingCuration MONDO:0008255 platelet factor 3 deficiency skos:exactMatch OMIM:173450 platelet factor 3 deficiency semapv:ManualMappingCuration MONDO:0008256 platelet membrane fluidity skos:exactMatch OMIM:173560 platelet membrane fluidity semapv:ManualMappingCuration MONDO:0008257 platelet responsiveness to adrenaline, depressed skos:exactMatch OMIM:173580 platelet responsiveness to adrenaline, depressed semapv:ManualMappingCuration MONDO:0008258 platelet signal processing defect skos:exactMatch OMIM:173590 platelet signal processing defect semapv:ManualMappingCuration MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch OMIM:173600 pneumothorax, primary spontaneous semapv:ManualMappingCuration MONDO:0008260 Kindler syndrome skos:exactMatch OMIM:173650 kindler syndrome semapv:ManualMappingCuration MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:ManualMappingCuration MONDO:0008262 Poland syndrome skos:exactMatch OMIM:173800 poland syndrome semapv:ManualMappingCuration MONDO:0008263 polycystic kidney disease 1 skos:exactMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:ManualMappingCuration MONDO:0008265 polycystic liver disease 1 skos:exactMatch OMIM:174050 polycystic liver disease 1 with or without kidney cysts semapv:ManualMappingCuration MONDO:0008266 polydactyly, postaxial, type A1 skos:exactMatch OMIM:174200 polydactyly, postaxial, type a1 semapv:ManualMappingCuration MONDO:0008267 orofaciodigital syndrome V skos:exactMatch OMIM:174300 orofaciodigital syndrome 5 semapv:ManualMappingCuration MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:ManualMappingCuration MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch OMIM:174400 polydactyly, preaxial 1 semapv:ManualMappingCuration MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch OMIM:174500 polydactyly, preaxial 2 semapv:ManualMappingCuration MONDO:0008271 polydactyly of an index finger skos:exactMatch OMIM:174600 polydactyly, preaxial 3 semapv:ManualMappingCuration MONDO:0008272 polysyndactyly 4 skos:exactMatch OMIM:174700 polydactyly, preaxial 4 semapv:ManualMappingCuration MONDO:0008273 actinic prurigo skos:exactMatch OMIM:174770 actinic prurigo semapv:ManualMappingCuration MONDO:0008275 familial expansile osteolysis skos:exactMatch OMIM:174810 familial expansile osteolysis semapv:ManualMappingCuration MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:ManualMappingCuration MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch OMIM:175200 peutz-jeghers syndrome semapv:ManualMappingCuration MONDO:0008281 polyposis, intestinal, scattered and discrete skos:exactMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:ManualMappingCuration MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch OMIM:175450 polyposis, intestinal, with multiple exostoses semapv:ManualMappingCuration MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:ManualMappingCuration MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch OMIM:175510 gist-plus syndrome semapv:ManualMappingCuration MONDO:0008286 crossed polysyndactyly skos:exactMatch OMIM:175690 polysyndactyly, crossed semapv:ManualMappingCuration MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:ManualMappingCuration MONDO:0008288 popliteal cyst skos:exactMatch OMIM:175750 popliteal cyst semapv:ManualMappingCuration MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:175780 brain small vessel disease 1 with or without ocular anomalies semapv:ManualMappingCuration MONDO:0008290 porokeratosis 1, Mibelli type skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:ManualMappingCuration MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated type semapv:ManualMappingCuration MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch OMIM:175860 palmoplantar keratoderma, punctate type 2 semapv:ManualMappingCuration MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch OMIM:175900 porokeratosis 3, multiple types semapv:ManualMappingCuration MONDO:0008294 acute intermittent porphyria skos:exactMatch OMIM:176000 porphyria, acute intermittent semapv:ManualMappingCuration MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch OMIM:176090 porphyria cutanea tarda, type 1 semapv:ManualMappingCuration MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:ManualMappingCuration MONDO:0008297 variegate porphyria skos:exactMatch OMIM:176200 variegate porphyria semapv:ManualMappingCuration MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:ManualMappingCuration MONDO:0008299 posterior column ataxia skos:exactMatch OMIM:176250 posterior column ataxia semapv:ManualMappingCuration MONDO:0008300 Prader-Willi syndrome skos:exactMatch OMIM:176270 prader-willi syndrome semapv:ManualMappingCuration MONDO:0008301 Guttmacher syndrome skos:exactMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:ManualMappingCuration MONDO:0008302 central precocious puberty 1 skos:exactMatch OMIM:176400 precocious puberty, central, 1 semapv:ManualMappingCuration MONDO:0008303 familial male-limited precocious puberty skos:exactMatch OMIM:176410 precocious puberty, male-limited semapv:ManualMappingCuration MONDO:0008304 premature chromatid separation trait skos:exactMatch OMIM:176430 premature chromatid separation trait semapv:ManualMappingCuration MONDO:0008305 Currarino triad skos:exactMatch OMIM:176450 currarino syndrome semapv:ManualMappingCuration MONDO:0008306 ABri amyloidosis skos:exactMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:ManualMappingCuration MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch OMIM:176600 presenile dementia, kraepelin type semapv:ManualMappingCuration MONDO:0008308 priapism, familial idiopathic skos:exactMatch OMIM:176620 priapism, familial idiopathic semapv:ManualMappingCuration MONDO:0008309 primary release disorder of platelets skos:exactMatch OMIM:176630 primary release disorder of platelets semapv:ManualMappingCuration MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:ManualMappingCuration MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch OMIM:176690 mulvihill-smith syndrome semapv:ManualMappingCuration MONDO:0008312 autosomal dominant prognathism skos:exactMatch OMIM:176700 prognathism, mandibular semapv:ManualMappingCuration MONDO:0008313 pelvic organ prolapse, susceptibility to skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:ManualMappingCuration MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch OMIM:176800 pronation-supination of the forearm, impairment of semapv:ManualMappingCuration MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:ManualMappingCuration MONDO:0008317 proteolytic capacity of plasma skos:exactMatch OMIM:176900 proteolytic capacity of plasma semapv:ManualMappingCuration MONDO:0008318 Proteus syndrome skos:exactMatch OMIM:176920 proteus syndrome semapv:ManualMappingCuration MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration MONDO:0008320 Protrusio acetabuli skos:exactMatch OMIM:177050 protrusio acetabuli semapv:ManualMappingCuration MONDO:0008321 pruritus, hereditary localized skos:exactMatch OMIM:177100 pruritus, hereditary localized semapv:ManualMappingCuration MONDO:0008322 pseudoachondroplasia skos:exactMatch OMIM:177170 pseudoachondroplasia semapv:ManualMappingCuration MONDO:0008324 pseudoarthrogryposis skos:exactMatch OMIM:177300 pseudoarthrogryposis semapv:ManualMappingCuration MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch OMIM:177350 pseudoatrophoderma colli semapv:ManualMappingCuration MONDO:0008326 obsolete pseudocholinesterase, increase in plasma level of skos:exactMatch OMIM:177600 pseudocholinesterase, increase 1n plasma level of semapv:ManualMappingCuration MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch OMIM:177700 glaucoma 1, open angle, p semapv:ManualMappingCuration MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch OMIM:177735 pseudohypoaldosteronism, type i, autosomal dominant semapv:ManualMappingCuration MONDO:0008330 pseudomonilethrix skos:exactMatch OMIM:177750 pseudomonilethrix semapv:ManualMappingCuration MONDO:0008331 obsolete pseudopapilledema skos:exactMatch OMIM:177800 pseudopapilledema semapv:ManualMappingCuration MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch OMIM:177820 von willebrand disease, platelet-type semapv:ManualMappingCuration MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:exactMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:ManualMappingCuration MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch OMIM:177900 psoriasis 1, susceptibility to semapv:ManualMappingCuration MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:ManualMappingCuration MONDO:0008336 pterygium colli, isolated skos:exactMatch OMIM:177990 pterygium colli, isolated semapv:ManualMappingCuration MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:ManualMappingCuration MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a semapv:ManualMappingCuration MONDO:0008339 antecubital pterygium syndrome skos:exactMatch OMIM:178200 pterygium, antecubital semapv:ManualMappingCuration MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:ManualMappingCuration MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:ManualMappingCuration MONDO:0008342 pubic bone dysplasia skos:exactMatch OMIM:178350 pubic bone dysplasia semapv:ManualMappingCuration MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch OMIM:178370 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:ManualMappingCuration MONDO:0008346 pulmonary hemosiderosis skos:exactMatch OMIM:178550 pulmonary hemosiderosis semapv:ManualMappingCuration MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:ManualMappingCuration MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:ManualMappingCuration MONDO:0008350 pulmonic stenosis and deafness skos:exactMatch OMIM:178651 pulmonic stenosis and deafness semapv:ManualMappingCuration MONDO:0008351 obsolete pupil, egg-shaped skos:exactMatch OMIM:178800 pupil, egg-shaped semapv:ManualMappingCuration MONDO:0008352 pupillary membrane, persistence of skos:exactMatch OMIM:178900 pupillary membrane, persistence of semapv:ManualMappingCuration MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch OMIM:178995 pruritic urticarial papules and plaques of pregnancy semapv:ManualMappingCuration MONDO:0008354 purpura simplex skos:exactMatch OMIM:179000 purpura simplex semapv:ManualMappingCuration MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:ManualMappingCuration MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch OMIM:179200 radial heads, posterior dislocation of semapv:ManualMappingCuration MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch OMIM:179250 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema semapv:ManualMappingCuration MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:ManualMappingCuration MONDO:0008359 radio-renal syndrome skos:exactMatch OMIM:179280 radial-renal syndrome semapv:ManualMappingCuration MONDO:0008361 radius, aplasia of, with cleft lip/palate skos:exactMatch OMIM:179400 radius, aplasia of, with cleft lip/palate semapv:ManualMappingCuration MONDO:0008362 ragweed sensitivity skos:exactMatch OMIM:179450 ragweed sensitivity semapv:ManualMappingCuration MONDO:0008363 raindrop hypopigmentation skos:exactMatch OMIM:179500 raindrop hypopigmentation semapv:ManualMappingCuration MONDO:0008364 Raynaud disease skos:exactMatch OMIM:179600 raynaud disease semapv:ManualMappingCuration MONDO:0008365 recombinant 8 syndrome skos:exactMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:ManualMappingCuration MONDO:0008366 red cell permeability defect skos:exactMatch OMIM:179650 red cell permeability defect semapv:ManualMappingCuration MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:ManualMappingCuration MONDO:0008369 proximal renal tubular acidosis skos:exactMatch OMIM:179830 renal tubular acidosis, proximal semapv:ManualMappingCuration MONDO:0008372 retinal aplasia skos:exactMatch OMIM:179900 retinal aplasia semapv:ManualMappingCuration MONDO:0008373 retinal arterial tortuosity skos:exactMatch OMIM:180000 retinal arteries, tortuosity of semapv:ManualMappingCuration MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch OMIM:180020 retinal cone dystrophy 1 semapv:ManualMappingCuration MONDO:0008375 retinal detachment skos:exactMatch OMIM:180050 retinal detachment semapv:ManualMappingCuration MONDO:0008376 retinal venous beading skos:exactMatch OMIM:180080 retinal venous beading semapv:ManualMappingCuration MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch OMIM:180100 retinitis pigmentosa 1 semapv:ManualMappingCuration MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch OMIM:180104 retinitis pigmentosa 9 semapv:ManualMappingCuration MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch OMIM:180105 retinitis pigmentosa 10 semapv:ManualMappingCuration MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:ManualMappingCuration MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch OMIM:180270 retinoschisis, autosomal dominant semapv:ManualMappingCuration MONDO:0008383 rheumatoid arthritis skos:exactMatch OMIM:180300 rheumatoid arthritis semapv:ManualMappingCuration MONDO:0008384 rheumatoid nodulosis skos:exactMatch OMIM:180350 rheumatoid nodulosis semapv:ManualMappingCuration MONDO:0008385 rhiny skos:exactMatch OMIM:180360 rhiny semapv:ManualMappingCuration MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch OMIM:180500 axenfeld-rieger syndrome, type 1 semapv:ManualMappingCuration MONDO:0008387 ring dermoid of cornea skos:exactMatch OMIM:180550 ring dermoid of cornea semapv:ManualMappingCuration MONDO:0008388 ringed hair disease skos:exactMatch OMIM:180600 ringed hair semapv:ManualMappingCuration MONDO:0008390 Rombo syndrome skos:exactMatch OMIM:180730 rombo syndrome semapv:ManualMappingCuration MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch OMIM:180750 robinow-sorauf syndrome semapv:ManualMappingCuration MONDO:0008392 Roussy-Levy syndrome skos:exactMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:ManualMappingCuration MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:ManualMappingCuration MONDO:0008395 Ruvalcaba syndrome skos:exactMatch OMIM:180870 ruvalcaba syndrome semapv:ManualMappingCuration MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch OMIM:180900 rutherfurd syndrome semapv:ManualMappingCuration MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:ManualMappingCuration MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch OMIM:180950 salivary substance, clostridium botulinum type semapv:ManualMappingCuration MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0008400 salivary duct calculi skos:exactMatch OMIM:181010 salivary duct calculi semapv:ManualMappingCuration MONDO:0008401 pleomorphic adenoma skos:exactMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:ManualMappingCuration MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch OMIM:181180 say syndrome semapv:ManualMappingCuration MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:ManualMappingCuration MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch OMIM:181270 scalp-ear-nipple syndrome semapv:ManualMappingCuration MONDO:0008405 obsolete scapula, contour of vertebral border of skos:exactMatch OMIM:181300 scapula, contour of vertebral border of semapv:ManualMappingCuration MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser type semapv:ManualMappingCuration MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch OMIM:181405 scapuloperoneal spinal muscular atrophy semapv:ManualMappingCuration MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:ManualMappingCuration MONDO:0008410 Scheuermann disease skos:exactMatch OMIM:181440 scheuermann disease semapv:ManualMappingCuration MONDO:0008411 ulnar-mammary syndrome skos:exactMatch OMIM:181450 ulnar-mammary syndrome semapv:ManualMappingCuration MONDO:0008414 schizophrenia 1 skos:exactMatch OMIM:181510 schizophrenia 1 semapv:ManualMappingCuration MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:ManualMappingCuration MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch OMIM:181600 huriez syndrome semapv:ManualMappingCuration MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch OMIM:181700 sclerocornea, autosomal dominant semapv:ManualMappingCuration MONDO:0008418 scleroderma, familial progressive skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:ManualMappingCuration MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0008420 seborrheic keratosis skos:exactMatch OMIM:182000 keratosis, seborrheic semapv:ManualMappingCuration MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch OMIM:182150 simosa craniofacial syndrome semapv:ManualMappingCuration MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch OMIM:182170 anemia, sideroblastic, 4 semapv:ManualMappingCuration MONDO:0008423 sinus node disease and myopia skos:exactMatch OMIM:182190 sinus node disease and myopia semapv:ManualMappingCuration MONDO:0008424 sella turcica, bridged skos:exactMatch OMIM:182200 sella turcica, bridged semapv:ManualMappingCuration MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch OMIM:182210 shprintzen omphalocele syndrome semapv:ManualMappingCuration MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:ManualMappingCuration MONDO:0008427 sister chromatid exchange, frequency of skos:exactMatch OMIM:182220 sister chromatid exchange, frequency of semapv:ManualMappingCuration MONDO:0008428 septooptic dysplasia skos:exactMatch OMIM:182230 septooptic dysplasia semapv:ManualMappingCuration MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch OMIM:182255 skeletal dysplasia with delayed epiphyseal and carpal bone ossification semapv:ManualMappingCuration MONDO:0008432 obsolete ketone compounds, ability to smell skos:exactMatch OMIM:182270 ketone compounds, ability to smell semapv:ManualMappingCuration MONDO:0008433 small cell lung carcinoma skos:exactMatch OMIM:182280 small cell cancer of the lung semapv:ManualMappingCuration MONDO:0008434 Smith-Magenis syndrome skos:exactMatch OMIM:182290 smith-magenis syndrome semapv:ManualMappingCuration MONDO:0008435 Somatomedin, embryonic skos:exactMatch OMIM:182400 somatomedin, embryonic semapv:ManualMappingCuration MONDO:0008436 Sneddon syndrome skos:exactMatch OMIM:182410 sneddon syndrome semapv:ManualMappingCuration MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:ManualMappingCuration MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:ManualMappingCuration MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch OMIM:182610 spastic paraplegia, epilepsy, and impaired intellectual development semapv:ManualMappingCuration MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch OMIM:182690 spastic paraplegia, sensorineural deafness, impaired intellectual development, and progressive nephropathy semapv:ManualMappingCuration MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch OMIM:182800 spastic paraplegia with associated extrapyramidal signs semapv:ManualMappingCuration MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:ManualMappingCuration MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:ManualMappingCuration MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch OMIM:182830 spastic paraplegia, optic atrophy, and dementia semapv:ManualMappingCuration MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:ManualMappingCuration MONDO:0008446 sperm protamine P4 skos:exactMatch OMIM:182882 sperm protamine p4 semapv:ManualMappingCuration MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch OMIM:182900 spherocytosis, type 1 semapv:ManualMappingCuration MONDO:0008450 spinal arachnoiditis skos:exactMatch OMIM:182950 spinal arachnoiditis semapv:ManualMappingCuration MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch OMIM:182970 spinal muscular atrophy, facioscapulohumeral type semapv:ManualMappingCuration MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel type semapv:ManualMappingCuration MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch OMIM:182990 spinal intradural arachnoid cysts semapv:ManualMappingCuration MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch OMIM:183020 spinal muscular atrophy, segmental semapv:ManualMappingCuration MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch OMIM:183050 spinocerebellar ataxia with rigidity and peripheral neuropathy semapv:ManualMappingCuration MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch OMIM:183086 spinocerebellar ataxia 6 semapv:ManualMappingCuration MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:ManualMappingCuration MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch OMIM:183100 spinocerebellar atrophy with pupillary paralysis semapv:ManualMappingCuration MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:ManualMappingCuration MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch OMIM:183350 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells semapv:ManualMappingCuration MONDO:0008462 split lower lip skos:exactMatch OMIM:183400 split lower 51p semapv:ManualMappingCuration MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch OMIM:183500 split-hand and split-foot with hypodontia semapv:ManualMappingCuration MONDO:0008464 split hand-foot malformation 1 skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:ManualMappingCuration MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:ManualMappingCuration MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:ManualMappingCuration MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:ManualMappingCuration MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch OMIM:183840 spondyloarthropathy, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:ManualMappingCuration MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch OMIM:183850 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:ManualMappingCuration MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch OMIM:183900 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:ManualMappingCuration MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch OMIM:184095 spondyloepiphyseal dysplasia, maroteaux type semapv:ManualMappingCuration MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:ManualMappingCuration MONDO:0008475 spondylolisthesis skos:exactMatch OMIM:184200 spondylolisthesis semapv:ManualMappingCuration MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type semapv:ManualMappingCuration MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski type semapv:ManualMappingCuration MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch OMIM:184253 spondylometaphyseal dysplasia, algerian type semapv:ManualMappingCuration MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch OMIM:184255 spondylometaphyseal dysplasia, corner fracture type semapv:ManualMappingCuration MONDO:0008481 spondylosis, cervical skos:exactMatch OMIM:184300 spondylosis, cervical semapv:ManualMappingCuration MONDO:0008482 Sprengel deformity skos:exactMatch OMIM:184400 sprengel deformity semapv:ManualMappingCuration MONDO:0008483 stuttering, familial persistent, 1 skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:ManualMappingCuration MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:ManualMappingCuration MONDO:0008485 sebocystomatosis skos:exactMatch OMIM:184500 steatocystoma multiplex semapv:ManualMappingCuration MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:ManualMappingCuration MONDO:0008487 polycystic ovary syndrome skos:exactMatch OMIM:184700 polycystic ovary syndrome 1 semapv:ManualMappingCuration MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch OMIM:184705 steinfeld syndrome semapv:ManualMappingCuration MONDO:0008489 sternum, premature obliteration of sutures of skos:exactMatch OMIM:184800 sternum, premature obliteration of sutures of semapv:ManualMappingCuration MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:ManualMappingCuration MONDO:0008491 stiff-person syndrome skos:exactMatch OMIM:184850 stiff-person syndrome semapv:ManualMappingCuration MONDO:0008492 stiff skin syndrome skos:exactMatch OMIM:184900 stiff skin syndrome semapv:ManualMappingCuration MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:ManualMappingCuration MONDO:0008494 cryohydrocytosis skos:exactMatch OMIM:185020 cryohydrocytosis semapv:ManualMappingCuration MONDO:0008495 platelet storage pool deficiency skos:exactMatch OMIM:185050 storage pool platelet disease semapv:ManualMappingCuration MONDO:0008496 storm syndrome skos:exactMatch OMIM:185069 storm syndrome semapv:ManualMappingCuration MONDO:0008497 Stormorken syndrome skos:exactMatch OMIM:185070 stormorken syndrome semapv:ManualMappingCuration MONDO:0008498 strabismus, susceptibility to skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:ManualMappingCuration MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch OMIM:185120 stratton-parker syndrome semapv:ManualMappingCuration MONDO:0008500 striae distensae, familial skos:exactMatch OMIM:185200 striae distensae, familial semapv:ManualMappingCuration MONDO:0008501 Sturge-Weber syndrome skos:exactMatch OMIM:185300 sturge-weber syndrome semapv:ManualMappingCuration MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch OMIM:185460 sulfhemoglobinemia, congenital semapv:ManualMappingCuration MONDO:0008503 Worster-Drought syndrome skos:exactMatch OMIM:185480 suprabulbar paresis, congenital semapv:ManualMappingCuration MONDO:0008504 supravalvular aortic stenosis skos:exactMatch OMIM:185500 supravalvular aortic stenosis semapv:ManualMappingCuration MONDO:0008505 surface antigen, glycoprotein 75 skos:exactMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:ManualMappingCuration MONDO:0008506 symphalangism of toes skos:exactMatch OMIM:185600 symphalangism of toes semapv:ManualMappingCuration MONDO:0008507 surface polypeptides, anonymous skos:exactMatch OMIM:185610 surface polypeptides, anonymous semapv:ManualMappingCuration MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch OMIM:185650 symphalangism, c. s. lewis type semapv:ManualMappingCuration MONDO:0008509 distal symphalangism skos:exactMatch OMIM:185700 symphalangism, distal semapv:ManualMappingCuration MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch OMIM:185750 symphalangism with multiple anomalies of hands and feet semapv:ManualMappingCuration MONDO:0008512 syndactyly type 1 skos:exactMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:ManualMappingCuration MONDO:0008513 synpolydactyly type 1 skos:exactMatch OMIM:186000 synpolydactyly 1 semapv:ManualMappingCuration MONDO:0008514 syndactyly type 3 skos:exactMatch OMIM:186100 syndactyly, type 3 semapv:ManualMappingCuration MONDO:0008515 syndactyly type 4 skos:exactMatch OMIM:186200 syndactyly, type 4 semapv:ManualMappingCuration MONDO:0008516 syndactyly type 5 skos:exactMatch OMIM:186300 syndactyly, type 5 semapv:ManualMappingCuration MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:ManualMappingCuration MONDO:0008518 calcaneonavicular coalition skos:exactMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:ManualMappingCuration MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:ManualMappingCuration MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch OMIM:186550 liebenberg syndrome semapv:ManualMappingCuration MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:ManualMappingCuration MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch OMIM:186575 synovial chondromatosis, familial, with dwarfism semapv:ManualMappingCuration MONDO:0008523 Blau syndrome skos:exactMatch OMIM:186580 blau syndrome semapv:ManualMappingCuration MONDO:0008524 syringomas, multiple skos:exactMatch OMIM:186600 syringomas, multiple semapv:ManualMappingCuration MONDO:0008525 syringomyelia, isolated skos:exactMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:ManualMappingCuration MONDO:0008526 talonavicular coalition skos:exactMatch OMIM:186750 talonavicular coalition semapv:ManualMappingCuration MONDO:0008527 tarsal coalition skos:exactMatch OMIM:186850 tarsal coalition semapv:ManualMappingCuration MONDO:0008528 tear protein, anodal skos:exactMatch OMIM:186890 tear protein, anodal semapv:ManualMappingCuration MONDO:0008529 T-cell Subgroups, non-HLA-linked skos:exactMatch OMIM:186950 t-cell subgroups, non-hla-linked semapv:ManualMappingCuration MONDO:0008530 teeth, odd shapes of skos:exactMatch OMIM:187000 teeth, odd shapes of semapv:ManualMappingCuration MONDO:0008531 obsolete T-complex locus TCP10B skos:exactMatch OMIM:187030 t-complex locus TCP10B semapv:ManualMappingCuration MONDO:0008532 teeth present at birth skos:exactMatch OMIM:187050 teeth present at birth semapv:ManualMappingCuration MONDO:0008533 teeth, supernumerary skos:exactMatch OMIM:187100 teeth, supernumerary semapv:ManualMappingCuration MONDO:0008534 generalized essential telangiectasia skos:exactMatch OMIM:187260 telangiectasia, hereditary benign semapv:ManualMappingCuration MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, type 1 semapv:ManualMappingCuration MONDO:0008536 temperature-sensitive lethal mutation skos:exactMatch OMIM:187340 temperature-sensitive lethal mutation semapv:ManualMappingCuration MONDO:0008537 telecanthus skos:exactMatch OMIM:187350 telecanthus semapv:ManualMappingCuration MONDO:0008538 temporal arteritis skos:exactMatch OMIM:187360 temporal arteritis semapv:ManualMappingCuration MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:ManualMappingCuration MONDO:0008541 spermatic cord torsion skos:exactMatch OMIM:187400 testicular torsion semapv:ManualMappingCuration MONDO:0008542 tetralogy of fallot skos:exactMatch OMIM:187500 tetralogy of fallot semapv:ManualMappingCuration MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch OMIM:187501 tetralogy of fallot and glaucoma semapv:ManualMappingCuration MONDO:0008544 tetramelic monodactyly skos:exactMatch OMIM:187510 tetramelic monodactyly semapv:ManualMappingCuration MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch OMIM:187550 thalassemia, beta+, silent allele semapv:ManualMappingCuration MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch OMIM:187600 thanatophoric dysplasia, type 1 semapv:ManualMappingCuration MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch OMIM:187601 thanatophoric dysplasia, type 2 semapv:ManualMappingCuration MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:ManualMappingCuration MONDO:0008549 thoracic dysostosis, isolated skos:exactMatch OMIM:187750 thoracic dysostosis, isolated semapv:ManualMappingCuration MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:ManualMappingCuration MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187770 thoracopelvic dysostosis semapv:ManualMappingCuration MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:ManualMappingCuration MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:ManualMappingCuration MONDO:0008554 thrombocythemia 1 skos:exactMatch OMIM:187950 thrombocythemia 1 semapv:ManualMappingCuration MONDO:0008555 thrombocytopenia 2 skos:exactMatch OMIM:188000 thrombocytopenia 2 semapv:ManualMappingCuration MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch OMIM:188020 thrombocytopenia, cyclic semapv:ManualMappingCuration MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch OMIM:188025 thrombocytopenia, paris-trousseau type semapv:ManualMappingCuration MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch OMIM:188030 immune thrombocytopenia semapv:ManualMappingCuration MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:ManualMappingCuration MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:ManualMappingCuration MONDO:0008561 thumb deformity skos:exactMatch OMIM:188100 thumb deformity semapv:ManualMappingCuration MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch OMIM:188150 thumb deformity and alopecia semapv:ManualMappingCuration MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch OMIM:188201 thumbs, stiff, with brachydactyly type a1 and developmental delay semapv:ManualMappingCuration MONDO:0008564 DiGeorge syndrome skos:exactMatch OMIM:188400 digeorge syndrome semapv:ManualMappingCuration MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch OMIM:188455 thyroglossal duct cyst, familial semapv:ManualMappingCuration MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:ManualMappingCuration MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:ManualMappingCuration MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:ManualMappingCuration MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:ManualMappingCuration MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0008571 Blount disease, infantile skos:exactMatch OMIM:188700 blount disease, infantile semapv:ManualMappingCuration MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:ManualMappingCuration MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch OMIM:188800 tibial torsion, bilateral medial semapv:ManualMappingCuration MONDO:0008574 obsolete Tl antigen skos:exactMatch OMIM:188850 tl antigen semapv:ManualMappingCuration MONDO:0008576 toe, fifth, number of phalanges 1N skos:exactMatch OMIM:189000 toe, fifth, number of phalanges 1n semapv:ManualMappingCuration MONDO:0008577 toe, misshapen skos:exactMatch OMIM:189100 toe, misshapen semapv:ManualMappingCuration MONDO:0008578 toe, rotated fifth skos:exactMatch OMIM:189150 toe, rotated fifth semapv:ManualMappingCuration MONDO:0008579 toes, relative length of first and second skos:exactMatch OMIM:189200 toes, relative length of first and second semapv:ManualMappingCuration MONDO:0008580 toes, space between first and second skos:exactMatch OMIM:189230 toes, space between first and second semapv:ManualMappingCuration MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:exactMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:ManualMappingCuration MONDO:0008582 tooth and nail syndrome skos:exactMatch OMIM:189500 witkop syndrome semapv:ManualMappingCuration MONDO:0008583 inherited torticollis skos:exactMatch OMIM:189600 torticollis semapv:ManualMappingCuration MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch OMIM:189700 torus palatinus and torus mandibularis semapv:ManualMappingCuration MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:ManualMappingCuration MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch OMIM:189961 tracheopathia osteoplastica semapv:ManualMappingCuration MONDO:0008588 hereditary geniospasm skos:exactMatch OMIM:190100 geniospasm 1 semapv:ManualMappingCuration MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch OMIM:190200 tremor of intention, ataxia, and lipofuscinosis semapv:ManualMappingCuration MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch OMIM:190300 tremor, hereditary essential, 1 semapv:ManualMappingCuration MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:ManualMappingCuration MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch OMIM:190320 trichodentoosseous syndrome semapv:ManualMappingCuration MONDO:0008593 trichomegaly skos:exactMatch OMIM:190330 trichomegaly semapv:ManualMappingCuration MONDO:0008594 familial multiple discoid fibromas skos:exactMatch OMIM:190340 discoid fibromas, familial multiple semapv:ManualMappingCuration MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch OMIM:190345 trichoepitheliomas, multiple desmoplastic semapv:ManualMappingCuration MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190350 trichorhinophalangeal syndrome, type 1 semapv:ManualMappingCuration MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, type 3 semapv:ManualMappingCuration MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch OMIM:190360 trichodysplasia-xeroderma semapv:ManualMappingCuration MONDO:0008599 trigeminal neuralgia skos:exactMatch OMIM:190400 trigeminal neuralgia semapv:ManualMappingCuration MONDO:0008600 trigger thumb skos:exactMatch OMIM:190410 trigger thumb semapv:ManualMappingCuration MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch OMIM:190420 triglyceride storage disease, type 1 semapv:ManualMappingCuration MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch OMIM:190430 triglyceride storage disease, type 2 semapv:ManualMappingCuration MONDO:0008603 trigonocephaly 1 skos:exactMatch OMIM:190440 trigonocephaly 1 semapv:ManualMappingCuration MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch OMIM:190500 triphalangeal thumb with double phalanges semapv:ManualMappingCuration MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch OMIM:190600 triphalangeal thumb, nonopposable semapv:ManualMappingCuration MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:ManualMappingCuration MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:ManualMappingCuration MONDO:0008608 Down syndrome skos:exactMatch OMIM:190685 down syndrome semapv:ManualMappingCuration MONDO:0008609 Tristichiasis skos:exactMatch OMIM:190800 tristichiasis semapv:ManualMappingCuration MONDO:0008610 blue color blindness skos:exactMatch OMIM:190900 tritanopia semapv:ManualMappingCuration MONDO:0008611 humerus trochlea aplasia skos:exactMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:ManualMappingCuration MONDO:0008612 tuberous sclerosis 1 skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:ManualMappingCuration MONDO:0008613 Tuftsin deficiency skos:exactMatch OMIM:191150 tuftsin deficiency semapv:ManualMappingCuration MONDO:0008614 suppressor of tumorigenicity 3 skos:exactMatch OMIM:191181 suppressor of tumorigenicity 3 semapv:ManualMappingCuration MONDO:0008615 tune deafness skos:exactMatch OMIM:191200 tune deafness semapv:ManualMappingCuration MONDO:0008616 obsolete twinning due to superfetation skos:exactMatch OMIM:191250 twinning due to superfetation semapv:ManualMappingCuration MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch OMIM:191390 inflammatory bowel disease 11 semapv:ManualMappingCuration MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:ManualMappingCuration MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch OMIM:191420 ulna metaphyseal dysplasia syndrome semapv:ManualMappingCuration MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch OMIM:191440 ulnar hypoplasia semapv:ManualMappingCuration MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:ManualMappingCuration MONDO:0008623 Undritz anomaly skos:exactMatch OMIM:191500 undritz anomaly semapv:ManualMappingCuration MONDO:0008624 Upington disease skos:exactMatch OMIM:191520 upington disease semapv:ManualMappingCuration MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:ManualMappingCuration MONDO:0008626 ureter, bifid or double skos:exactMatch OMIM:191550 ureter, bifid or double semapv:ManualMappingCuration MONDO:0008627 ureter cancer skos:exactMatch OMIM:191600 ureter, cancer of semapv:ManualMappingCuration MONDO:0008628 ureterocele skos:exactMatch OMIM:191650 ureterocele semapv:ManualMappingCuration MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:ManualMappingCuration MONDO:0008630 urinary bladder, atony of skos:exactMatch OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:ManualMappingCuration MONDO:0008632 urticaria, aquagenic skos:exactMatch OMIM:191850 urticaria, aquagenic semapv:ManualMappingCuration MONDO:0008633 Muckle-Wells syndrome skos:exactMatch OMIM:191900 muckle-wells syndrome semapv:ManualMappingCuration MONDO:0008634 urticaria, familial localized heat skos:exactMatch OMIM:191950 urticaria, familial localized heat semapv:ManualMappingCuration MONDO:0008635 uterine anomalies skos:exactMatch OMIM:192000 uterine anomalies semapv:ManualMappingCuration MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:ManualMappingCuration MONDO:0008637 bifid uvula skos:exactMatch OMIM:192100 uvula, bifid semapv:ManualMappingCuration MONDO:0008638 varicose disease skos:exactMatch OMIM:192200 varicose veins semapv:ManualMappingCuration MONDO:0008639 vascular helix of umbilical cord skos:exactMatch OMIM:192300 vascular helix of umbilical cord semapv:ManualMappingCuration MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch OMIM:192310 vasculitis, lymphocytic, nodular semapv:ManualMappingCuration MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:ManualMappingCuration MONDO:0008642 VACTERL/vater association skos:exactMatch OMIM:192350 vater/vacterl association semapv:ManualMappingCuration MONDO:0008643 veins, pattern of, on anterior thorax skos:exactMatch OMIM:192400 veins, pattern of, on anterior thorax semapv:ManualMappingCuration MONDO:0008644 velocardiofacial syndrome skos:exactMatch OMIM:192430 velocardiofacial syndrome semapv:ManualMappingCuration MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:ManualMappingCuration MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:ManualMappingCuration MONDO:0008648 ventricular tachycardia, familial skos:exactMatch OMIM:192605 ventricular tachycardia, familial semapv:ManualMappingCuration MONDO:0008649 venular insufficiency, systemic skos:exactMatch OMIM:192700 venular insufficiency, systemic semapv:ManualMappingCuration MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:ManualMappingCuration MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch OMIM:192900 vertebral hypoplasia with lumbar kyphosis semapv:ManualMappingCuration MONDO:0008652 congenital vertical talus skos:exactMatch OMIM:192950 vertical talus, congenital semapv:ManualMappingCuration MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch OMIM:193000 vesicoureteral reflux 1 semapv:ManualMappingCuration MONDO:0008654 spinocerebellar ataxia 27A skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:ManualMappingCuration MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch OMIM:193005 vestibulocochlear dysfunction, progressive semapv:ManualMappingCuration MONDO:0008658 obsolete virus Rd114 RNA Complementarity skos:exactMatch OMIM:193070 virus rd114 RNA complementarity semapv:ManualMappingCuration MONDO:0008659 transcobalamin I deficiency skos:exactMatch OMIM:193090 transcobalamin 1 deficiency semapv:ManualMappingCuration MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:ManualMappingCuration MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch OMIM:193220 vitreoretinochoroidopathy semapv:ManualMappingCuration MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch OMIM:193230 vitreoretinal degeneration, snowflake type semapv:ManualMappingCuration MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch OMIM:193240 vocal cord paralysis and ptosis semapv:ManualMappingCuration MONDO:0008666 volvulus of midgut skos:exactMatch OMIM:193250 volvulus of midgut semapv:ManualMappingCuration MONDO:0008667 von Hippel-Lindau disease skos:exactMatch OMIM:193300 von hippel-lindau syndrome semapv:ManualMappingCuration MONDO:0008668 von Willebrand disease 1 skos:exactMatch OMIM:193400 von willebrand disease, type 1 semapv:ManualMappingCuration MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch OMIM:193450 vulvovaginitis, allergic seminal semapv:ManualMappingCuration MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch OMIM:193500 waardenburg syndrome, type 1 semapv:ManualMappingCuration MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch OMIM:193510 waardenburg syndrome, type 2a semapv:ManualMappingCuration MONDO:0008672 Watson syndrome skos:exactMatch OMIM:193520 watson syndrome semapv:ManualMappingCuration MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch OMIM:193530 weyers acrofacial dysostosis semapv:ManualMappingCuration MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch OMIM:193700 arthrogryposis, distal, type 2a semapv:ManualMappingCuration MONDO:0008676 white sponge nevus 1 skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:ManualMappingCuration MONDO:0008677 obsolete widow's peak skos:exactMatch OMIM:194000 widow's peak semapv:ManualMappingCuration MONDO:0008678 Williams syndrome skos:exactMatch OMIM:194050 williams-beuren syndrome semapv:ManualMappingCuration MONDO:0008679 Wilms tumor 1 skos:exactMatch OMIM:194070 wilms tumor 1 semapv:ManualMappingCuration MONDO:0008680 Wilms tumor 2 skos:exactMatch OMIM:194071 wilms tumor 2 semapv:ManualMappingCuration MONDO:0008681 WAGR syndrome skos:exactMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0008682 Denys-Drash syndrome skos:exactMatch OMIM:194080 denys-drash syndrome semapv:ManualMappingCuration MONDO:0008683 Wilms tumor 3 skos:exactMatch OMIM:194090 wilms tumor 3 semapv:ManualMappingCuration MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch OMIM:194190 wolf-hirschhorn syndrome semapv:ManualMappingCuration MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch OMIM:194200 wolff-parkinson-white syndrome semapv:ManualMappingCuration MONDO:0008687 Woronets trait skos:exactMatch OMIM:194320 woronets trait semapv:ManualMappingCuration MONDO:0008688 WT limb-blood syndrome skos:exactMatch OMIM:194350 wt limb-blood syndrome semapv:ManualMappingCuration MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:ManualMappingCuration MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch OMIM:194400 xeroderma pigmentosum, autosomal dominant, mild semapv:ManualMappingCuration MONDO:0008691 obsolete zinc, elevated plasma skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:ManualMappingCuration MONDO:0008692 abetalipoproteinemia skos:exactMatch OMIM:200100 abetalipoproteinemia semapv:ManualMappingCuration MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:ManualMappingCuration MONDO:0008694 pseudoprogeria syndrome skos:exactMatch OMIM:200130 absent eyebrows and eyelashes with impaired intellectual development semapv:ManualMappingCuration MONDO:0008695 chorea-acanthocytosis skos:exactMatch OMIM:200150 choreoacanthocytosis semapv:ManualMappingCuration MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:ManualMappingCuration MONDO:0008697 obsolete acetophenetidin sensitivity skos:exactMatch OMIM:200300 acetophenetidin sensitivity semapv:ManualMappingCuration MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch OMIM:200450 achalasia-microcephaly syndrome semapv:ManualMappingCuration MONDO:0008700 acheiropody skos:exactMatch OMIM:200500 acheiropody semapv:ManualMappingCuration MONDO:0008701 achondrogenesis type IA skos:exactMatch OMIM:200600 achondrogenesis, type 1a semapv:ManualMappingCuration MONDO:0008702 achondrogenesis type II skos:exactMatch OMIM:200610 achondrogenesis, type 2 semapv:ManualMappingCuration MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch OMIM:200700 acromesomelic dysplasia 2a semapv:ManualMappingCuration MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:ManualMappingCuration MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch OMIM:200950 acid phosphatase deficiency semapv:ManualMappingCuration MONDO:0008706 Ackerman syndrome skos:exactMatch OMIM:200970 ackerman syndrome semapv:ManualMappingCuration MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch OMIM:200980 acrorenal-mandibular syndrome semapv:ManualMappingCuration MONDO:0008708 acrocallosal syndrome skos:exactMatch OMIM:200990 acrocallosal syndrome semapv:ManualMappingCuration MONDO:0008709 acrocephalopolydactyly skos:exactMatch OMIM:200995 acrocephalopolydactylous dysplasia semapv:ManualMappingCuration MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:ManualMappingCuration MONDO:0008711 Goodman syndrome skos:exactMatch OMIM:201020 acrocephalopolysyndactyly type 4 semapv:ManualMappingCuration MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch OMIM:201050 acrocraniofacial dysostosis semapv:ManualMappingCuration MONDO:0008713 acrodermatitis enteropathica skos:exactMatch OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type semapv:ManualMappingCuration MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:ManualMappingCuration MONDO:0008716 acrogeria skos:exactMatch OMIM:201200 acrogeria, gottron type semapv:ManualMappingCuration MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch OMIM:201250 acromesomelic dysplasia 2c semapv:ManualMappingCuration MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch OMIM:201310 acrorenal syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch OMIM:201400 acth deficiency, isolated semapv:ManualMappingCuration MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:ManualMappingCuration MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:ManualMappingCuration MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:ManualMappingCuration MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch OMIM:201550 adducted thumbs syndrome semapv:ManualMappingCuration MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:ManualMappingCuration MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch OMIM:201750 antley-bixler syndrome with genital anomalies and disordered steroidogenesis semapv:ManualMappingCuration MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:ManualMappingCuration MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:ManualMappingCuration MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:ManualMappingCuration MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:ManualMappingCuration MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:exactMatch OMIM:202155 adrenal hypoplasia, cytomegalic type semapv:ManualMappingCuration MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:ManualMappingCuration MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:ManualMappingCuration MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch OMIM:202370 peroxisome biogenesis disorder 2b semapv:ManualMappingCuration MONDO:0008737 congenital afibrinogenemia skos:exactMatch OMIM:202400 afibrinogenemia, congenital semapv:ManualMappingCuration MONDO:0008738 aganglionosis, total intestinal skos:exactMatch OMIM:202550 aganglionosis, total intestinal semapv:ManualMappingCuration MONDO:0008739 agenesis of cerebral white matter skos:exactMatch OMIM:202600 agenesis of cerebral white matter semapv:ManualMappingCuration MONDO:0008740 agnathia-otocephaly complex skos:exactMatch OMIM:202650 agnathia-otocephaly complex semapv:ManualMappingCuration MONDO:0008741 PAGOD syndrome skos:exactMatch OMIM:202660 pagod syndrome semapv:ManualMappingCuration MONDO:0008743 Stimmler syndrome skos:exactMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:ManualMappingCuration MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:ManualMappingCuration MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch OMIM:203100 albinism, oculocutaneous, type 1a semapv:ManualMappingCuration MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch OMIM:203200 albinism, oculocutaneous, type 2 semapv:ManualMappingCuration MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch OMIM:203290 albinism, oculocutaneous, type 3 semapv:ManualMappingCuration MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:ManualMappingCuration MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch OMIM:203330 pseudohypoparathyroidism, type 2 semapv:ManualMappingCuration MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:ManualMappingCuration MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch OMIM:203400 corticosterone methyloxidase type 1 deficiency semapv:ManualMappingCuration MONDO:0008752 Alexander disease skos:exactMatch OMIM:203450 alexander disease semapv:ManualMappingCuration MONDO:0008753 alkaptonuria skos:exactMatch OMIM:203500 alkaptonuria semapv:ManualMappingCuration MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism semapv:ManualMappingCuration MONDO:0008755 Moynahan syndrome skos:exactMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:ManualMappingCuration MONDO:0008757 alopecia universalis congenita skos:exactMatch OMIM:203655 alopecia universalis congenita semapv:ManualMappingCuration MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:ManualMappingCuration MONDO:0008759 oxoglutaricaciduria skos:exactMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:ManualMappingCuration MONDO:0008761 obsolete alpha-2-deficient collagen disease skos:exactMatch OMIM:203760 alpha-2-deficient collagen disease semapv:ManualMappingCuration MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch OMIM:203780 alport syndrome 2, autosomal recessive semapv:ManualMappingCuration MONDO:0008763 Alstrom syndrome skos:exactMatch OMIM:203800 alstrom syndrome semapv:ManualMappingCuration MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch OMIM:204000 leber congenital amaurosis 1 semapv:ManualMappingCuration MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch OMIM:204100 leber congenital amaurosis 2 semapv:ManualMappingCuration MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:ManualMappingCuration MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:ManualMappingCuration MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:ManualMappingCuration MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:ManualMappingCuration MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch OMIM:204650 amelogenesis imperfecta, type 1c semapv:ManualMappingCuration MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch OMIM:204690 amelogenesis imperfecta, type 1g semapv:ManualMappingCuration MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:ManualMappingCuration MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch OMIM:204730 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis semapv:ManualMappingCuration MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:204750 alpha-aminoadipic and alpha-ketoadipic aciduria semapv:ManualMappingCuration MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch OMIM:204800 amobarbital, deficient n-hydroxylation of semapv:ManualMappingCuration MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch OMIM:204850 amyloidosis of gingiva and conjunctiva with impaired intellectual development semapv:ManualMappingCuration MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:ManualMappingCuration MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch OMIM:204900 amyloidosis, cutaneous bullous semapv:ManualMappingCuration MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:ManualMappingCuration MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:ManualMappingCuration MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch OMIM:205250 amyotrophic lateral sclerosis with polyglucosan bodies semapv:ManualMappingCuration MONDO:0008783 Tangier disease skos:exactMatch OMIM:205400 tangier disease semapv:ManualMappingCuration MONDO:0008785 sideroblastic anemia 2 skos:exactMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:ManualMappingCuration MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:ManualMappingCuration MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:ManualMappingCuration MONDO:0008788 IRIDA syndrome skos:exactMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:ManualMappingCuration MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch OMIM:206300 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane semapv:ManualMappingCuration MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch OMIM:206400 anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism semapv:ManualMappingCuration MONDO:0008791 anencephaly 1 skos:exactMatch OMIM:206500 anencephaly 1 semapv:ManualMappingCuration MONDO:0008792 familial angiolipomatosis skos:exactMatch OMIM:206550 angiolipomatosis, familial semapv:ManualMappingCuration MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:ManualMappingCuration MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch OMIM:206600 anhidrosis, familial generalized, with abnormal or absent sweat glands semapv:ManualMappingCuration MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch OMIM:206700 gillespie syndrome semapv:ManualMappingCuration MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:ManualMappingCuration MONDO:0008797 anodontia skos:exactMatch OMIM:206780 anodontia of permanent dentition semapv:ManualMappingCuration MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:ManualMappingCuration MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch OMIM:206900 microphthalmia, syndromic 3 semapv:ManualMappingCuration MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch OMIM:206920 microphthalmia with limb anomalies semapv:ManualMappingCuration MONDO:0008801 anosmia for isobutyric acid skos:exactMatch OMIM:207000 anosmia for isobutyric acid semapv:ManualMappingCuration MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch OMIM:207300 antithrombin, familial hemorrhagic diathesis due to semapv:ManualMappingCuration MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch OMIM:207620 aphalangy with hemivertebrae semapv:ManualMappingCuration MONDO:0008807 obsolete apnea, central sleep skos:exactMatch OMIM:107640 apnea, central sleep semapv:ManualMappingCuration MONDO:0008807 obsolete apnea, central sleep skos:exactMatch OMIM:207720 apnea, central sleep semapv:ManualMappingCuration MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:ManualMappingCuration MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:ManualMappingCuration MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:ManualMappingCuration MONDO:0008811 XK aprosencephaly skos:exactMatch OMIM:207770 aprosencephaly syndrome semapv:ManualMappingCuration MONDO:0008812 AREDYLD syndrome skos:exactMatch OMIM:207780 aredyld semapv:ManualMappingCuration MONDO:0008814 arginase deficiency skos:exactMatch OMIM:207800 argininemia semapv:ManualMappingCuration MONDO:0008815 argininosuccinic aciduria skos:exactMatch OMIM:207900 argininosuccinic aciduria semapv:ManualMappingCuration MONDO:0008816 Chiari malformation type II skos:exactMatch OMIM:207950 chiari malformation type 2 semapv:ManualMappingCuration MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:ManualMappingCuration MONDO:0008818 arterial tortuosity syndrome skos:exactMatch OMIM:208050 arterial tortuosity syndrome semapv:ManualMappingCuration MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile semapv:ManualMappingCuration MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies semapv:ManualMappingCuration MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:ManualMappingCuration MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type semapv:ManualMappingCuration MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch OMIM:208155 illum syndrome semapv:ManualMappingCuration MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:ManualMappingCuration MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:ManualMappingCuration MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:ManualMappingCuration MONDO:0008829 chylous ascites skos:exactMatch OMIM:208300 ascites, chylous semapv:ManualMappingCuration MONDO:0008830 aspartylglucosaminuria skos:exactMatch OMIM:208400 aspartylglucosaminuria semapv:ManualMappingCuration MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:ManualMappingCuration MONDO:0008832 right atrial isomerism skos:exactMatch OMIM:208530 right atrial isomerism semapv:ManualMappingCuration MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:ManualMappingCuration MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:ManualMappingCuration MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch OMIM:208600 asthma, short stature, and elevated iga semapv:ManualMappingCuration MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch OMIM:208700 ataxia with myoclonic epilepsy and presenile dementia semapv:ManualMappingCuration MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch OMIM:208750 ataxia, deafness, and cardiomyopathy semapv:ManualMappingCuration MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:ManualMappingCuration MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:ManualMappingCuration MONDO:0008840 ataxia telangiectasia skos:exactMatch OMIM:208900 ataxia-telangiectasia semapv:ManualMappingCuration MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch OMIM:208910 ataxia-telangiectasia with generalized skin pigmentation and early death semapv:ManualMappingCuration MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:ManualMappingCuration MONDO:0008844 Athrombia, essential skos:exactMatch OMIM:209050 athrombia, essential semapv:ManualMappingCuration MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch OMIM:209100 atonic-astatic syndrome of foerster semapv:ManualMappingCuration MONDO:0008846 atransferrinemia skos:exactMatch OMIM:209300 atransferrinemia semapv:ManualMappingCuration MONDO:0008847 atrichia with papular lesions skos:exactMatch OMIM:209500 atrichia with papular lesions semapv:ManualMappingCuration MONDO:0008848 atrioventricular dissociation skos:exactMatch OMIM:209600 atrioventricular dissociation semapv:ManualMappingCuration MONDO:0008849 atrophoderma vermiculata skos:exactMatch OMIM:209700 atrophoderma vermiculata semapv:ManualMappingCuration MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch OMIM:209770 aural atresia, multiple congenital anomalies, and impaired intellectual development semapv:ManualMappingCuration MONDO:0008853 Barber-Say syndrome skos:exactMatch OMIM:209885 barber-say syndrome semapv:ManualMappingCuration MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch OMIM:209900 bardet-biedl syndrome 1 semapv:ManualMappingCuration MONDO:0008856 immunodeficiency 27A skos:exactMatch OMIM:209950 immunodeficiency 27a semapv:ManualMappingCuration MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch OMIM:209970 beemer lethal malformation syndrome semapv:ManualMappingCuration MONDO:0008858 Behr syndrome skos:exactMatch OMIM:210000 behr syndrome semapv:ManualMappingCuration MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:ManualMappingCuration MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:ManualMappingCuration MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:ManualMappingCuration MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:ManualMappingCuration MONDO:0008864 Biemond syndrome type 2 skos:exactMatch OMIM:210350 biemond syndrome 2 semapv:ManualMappingCuration MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:ManualMappingCuration MONDO:0008866 bifid nose, autosomal recessive skos:exactMatch OMIM:210400 bifid nose, autosomal recessive semapv:ManualMappingCuration MONDO:0008869 Seckel syndrome 1 skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:ManualMappingCuration MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch OMIM:210700 microcephalic primordial dwarfism, montreal type semapv:ManualMappingCuration MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, type 1 semapv:ManualMappingCuration MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, type 2 semapv:ManualMappingCuration MONDO:0008874 Bangstad syndrome skos:exactMatch OMIM:210740 bangstad syndrome semapv:ManualMappingCuration MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:ManualMappingCuration MONDO:0008876 Bloom syndrome skos:exactMatch OMIM:210900 bloom syndrome semapv:ManualMappingCuration MONDO:0008877 blue diaper syndrome skos:exactMatch OMIM:211000 blue diaper syndrome semapv:ManualMappingCuration MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch OMIM:211120 bone dysplasia, lethal, holmgren type semapv:ManualMappingCuration MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch OMIM:211180 bowen-conradi syndrome semapv:ManualMappingCuration MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch OMIM:211200 bowen syndrome of multiple malformations semapv:ManualMappingCuration MONDO:0008881 kyphomelic dysplasia skos:exactMatch OMIM:211350 kyphomelic dysplasia semapv:ManualMappingCuration MONDO:0008882 congenital bowing of long bones skos:exactMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:ManualMappingCuration MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch OMIM:211369 brachydactyly, type a2, with microcephaly semapv:ManualMappingCuration MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch OMIM:211370 brachymetapody-anodontia-hypotrichosis-albinoidism semapv:ManualMappingCuration MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch OMIM:211380 elsahy-waters syndrome semapv:ManualMappingCuration MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch OMIM:211390 sabinas brittle hair syndrome semapv:ManualMappingCuration MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:ManualMappingCuration MONDO:0008888 Williams-Campbell syndrome skos:exactMatch OMIM:211450 williams-campbell syndrome semapv:ManualMappingCuration MONDO:0008889 thromboangiitis obliterans skos:exactMatch OMIM:211480 buerger disease semapv:ManualMappingCuration MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:ManualMappingCuration MONDO:0008893 C syndrome skos:exactMatch OMIM:211750 c syndrome semapv:ManualMappingCuration MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch OMIM:211770 cahmr syndrome semapv:ManualMappingCuration MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch OMIM:211800 calcification of joints and arteries semapv:ManualMappingCuration MONDO:0008896 campomelia, Cumming type skos:exactMatch OMIM:211890 campomelia, cumming type semapv:ManualMappingCuration MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch OMIM:211910 camptodactyly syndrome, guadalajara, type 1 semapv:ManualMappingCuration MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch OMIM:211920 camptodactyly syndrome, guadalajara, type 2 semapv:ManualMappingCuration MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch OMIM:211930 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia semapv:ManualMappingCuration MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:ManualMappingCuration MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch OMIM:211965 camptodactyly-ichthyosis syndrome semapv:ManualMappingCuration MONDO:0008903 lung cancer skos:exactMatch OMIM:211980 lung cancer semapv:ManualMappingCuration MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch OMIM:211990 camptomelic syndrome, long-limb type semapv:ManualMappingCuration MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:ManualMappingCuration MONDO:0008906 obsolete carbimazole sensitivity skos:exactMatch OMIM:212060 carbimazole sensitivity semapv:ManualMappingCuration MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch OMIM:212065 congenital disorder of glycosylation, type ia semapv:ManualMappingCuration MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch OMIM:212066 congenital disorder of glycosylation, type iia semapv:ManualMappingCuration MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch OMIM:212067 congenital disorder of glycosylation, type i/iix semapv:ManualMappingCuration MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch OMIM:212070 carboxypeptidase n deficiency semapv:ManualMappingCuration MONDO:0008911 cardiac lipidosis, familial skos:exactMatch OMIM:212080 cardiac lipidosis, familial semapv:ManualMappingCuration MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch OMIM:212090 cardiac septal defects with coarctation of the aorta semapv:ManualMappingCuration MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch OMIM:212093 cardiac valvular dysplasia 1 semapv:ManualMappingCuration MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch OMIM:212100 cardioauditory syndrome of sanchez cascos semapv:ManualMappingCuration MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch OMIM:212130 cardiomyopathy associated with myopathy and sudden death semapv:ManualMappingCuration MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch OMIM:212135 cardioskeletal syndrome, kuwaiti type semapv:ManualMappingCuration MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch OMIM:212140 carnitine deficiency, systemic primary semapv:ManualMappingCuration MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch OMIM:212160 carnitine deficiency, myopathic semapv:ManualMappingCuration MONDO:0008921 carnosinemia skos:exactMatch OMIM:212200 carnosinemia semapv:ManualMappingCuration MONDO:0008922 Sengers syndrome skos:exactMatch OMIM:212350 sengers syndrome semapv:ManualMappingCuration MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:ManualMappingCuration MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch OMIM:212400 cataract and congenital ichthyosis semapv:ManualMappingCuration MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy semapv:ManualMappingCuration MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:ManualMappingCuration MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:ManualMappingCuration MONDO:0008930 celiac disease, susceptibility to, 1 skos:exactMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:ManualMappingCuration MONDO:0008932 premature centromere division skos:exactMatch OMIM:212790 premature centromere division semapv:ManualMappingCuration MONDO:0008933 cephalin lipidosis skos:exactMatch OMIM:212800 cephalin lipidosis semapv:ManualMappingCuration MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:ManualMappingCuration MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch OMIM:212840 gordon holmes syndrome semapv:ManualMappingCuration MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch OMIM:212850 cerebellar ataxia and neurosensory deafness semapv:ManualMappingCuration MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:ManualMappingCuration MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:ManualMappingCuration MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay semapv:ManualMappingCuration MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:ManualMappingCuration MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0008944 Joubert syndrome 1 skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:ManualMappingCuration MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:ManualMappingCuration MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch OMIM:213500 cerebral angiopathy, dysphoric semapv:ManualMappingCuration MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:ManualMappingCuration MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers semapv:ManualMappingCuration MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch OMIM:213900 cerebral sclerosis similar to pelizaeus-merzbacher disease semapv:ManualMappingCuration MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch OMIM:213950 cerebrocortical degeneration of infancy semapv:ManualMappingCuration MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:ManualMappingCuration MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:ManualMappingCuration MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:ManualMappingCuration MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch OMIM:214290 cervical vertebrae, agenesis of semapv:ManualMappingCuration MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:ManualMappingCuration MONDO:0008959 CHAND syndrome skos:exactMatch OMIM:214350 chand syndrome semapv:ManualMappingCuration MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers semapv:ManualMappingCuration MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a semapv:ManualMappingCuration MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch OMIM:214450 griscelli syndrome, type 1 semapv:ManualMappingCuration MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch OMIM:214500 chediak-higashi syndrome semapv:ManualMappingCuration MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:ManualMappingCuration MONDO:0008965 CHARGE syndrome skos:exactMatch OMIM:214800 charge syndrome semapv:ManualMappingCuration MONDO:0008966 Aagenaes syndrome skos:exactMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:ManualMappingCuration MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:ManualMappingCuration MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch OMIM:214980 cholestasis with gallstone, ataxia, and visual disturbance semapv:ManualMappingCuration MONDO:0008969 cholesterol pneumonia skos:exactMatch OMIM:215030 cholesterol pneumonia semapv:ManualMappingCuration MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch OMIM:215045 chondrodysplasia, blomstrand type semapv:ManualMappingCuration MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:ManualMappingCuration MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 semapv:ManualMappingCuration MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:ManualMappingCuration MONDO:0008974 Greenberg dysplasia skos:exactMatch OMIM:215140 greenberg dysplasia semapv:ManualMappingCuration MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome semapv:ManualMappingCuration MONDO:0008977 chondrosarcoma skos:exactMatch OMIM:215300 chondrosarcoma semapv:ManualMappingCuration MONDO:0008978 chordoma skos:exactMatch OMIM:215400 chordoma, susceptibility to semapv:ManualMappingCuration MONDO:0008979 chorea, benign familial skos:exactMatch OMIM:215450 chorea, benign familial semapv:ManualMappingCuration MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch OMIM:215470 boucher-neuhauser syndrome semapv:ManualMappingCuration MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch OMIM:215480 choroid plexus calcification and impaired intellectual development semapv:ManualMappingCuration MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch OMIM:215510 chromosomal instability with tissue-specific radiosensitivity semapv:ManualMappingCuration MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:ManualMappingCuration MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules semapv:ManualMappingCuration MONDO:0008986 circumvallate placenta syndrome skos:exactMatch OMIM:215550 circumvallate placenta syndrome semapv:ManualMappingCuration MONDO:0008988 citrullinemia type I skos:exactMatch OMIM:215700 citrullinemia, classic semapv:ManualMappingCuration MONDO:0008989 citrulline transport defect skos:exactMatch OMIM:215720 citrulline transport defect semapv:ManualMappingCuration MONDO:0008990 cleft larynx, posterior skos:exactMatch OMIM:215800 cleft larynx, posterior semapv:ManualMappingCuration MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:ManualMappingCuration MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch OMIM:216100 juberg-hayward syndrome semapv:ManualMappingCuration MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:ManualMappingCuration MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch OMIM:216330 cleidocranial dysplasia, recessive form semapv:ManualMappingCuration MONDO:0008995 Yunis-Varon syndrome skos:exactMatch OMIM:216340 yunis-varon syndrome semapv:ManualMappingCuration MONDO:0008999 Cohen syndrome skos:exactMatch OMIM:216550 cohen syndrome semapv:ManualMappingCuration MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch OMIM:216700 collagenosis, familial reactive perforating semapv:ManualMappingCuration MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:ManualMappingCuration MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch OMIM:216820 coloboma, ocular, autosomal recessive semapv:ManualMappingCuration MONDO:0009003 achromatopsia 2 skos:exactMatch OMIM:216900 achromatopsia 2 semapv:ManualMappingCuration MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch OMIM:216950 complement component c1r/c1s deficiency semapv:ManualMappingCuration MONDO:0009006 complement component 2 deficiency skos:exactMatch OMIM:217000 complement component 2 deficiency semapv:ManualMappingCuration MONDO:0009007 Jalili syndrome skos:exactMatch OMIM:217080 jalili syndrome semapv:ManualMappingCuration MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:ManualMappingCuration MONDO:0009009 hypoplasminogenemia skos:exactMatch OMIM:217090 plasminogen deficiency, type 1 semapv:ManualMappingCuration MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:ManualMappingCuration MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch OMIM:217200 convulsive disorder, familial, with prenatal or early onset semapv:ManualMappingCuration MONDO:0009014 cornea plana 2 skos:exactMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:ManualMappingCuration MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:ManualMappingCuration MONDO:0009016 band keratopathy skos:exactMatch OMIM:217500 corneal dystrophy, band-shaped semapv:ManualMappingCuration MONDO:0009017 corneal degeneration, band-shaped spheroid skos:exactMatch OMIM:217520 corneal degeneration, band-shaped spheroid semapv:ManualMappingCuration MONDO:0009018 central cloudy dystrophy of François skos:exactMatch OMIM:217600 central cloudy dystrophy of francois semapv:ManualMappingCuration MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:ManualMappingCuration MONDO:0009020 macular corneal dystrophy skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:ManualMappingCuration MONDO:0009021 Toriello-Carey syndrome skos:exactMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:ManualMappingCuration MONDO:0009022 corpus callosum, agenesis of skos:exactMatch OMIM:217990 corpus callosum, agenesis of semapv:ManualMappingCuration MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:ManualMappingCuration MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch OMIM:218030 apparent mineralocorticoid excess semapv:ManualMappingCuration MONDO:0009026 Costello syndrome skos:exactMatch OMIM:218040 costello syndrome semapv:ManualMappingCuration MONDO:0009027 cramps, familial adolescent skos:exactMatch OMIM:218050 cramps, familial adolescent semapv:ManualMappingCuration MONDO:0009028 Crane-Heise syndrome skos:exactMatch OMIM:218090 crane-heise syndrome semapv:ManualMappingCuration MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch OMIM:218100 cranial nerves, congenital paresis of semapv:ManualMappingCuration MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch OMIM:218200 cranial nerves, recurrent paresis of semapv:ManualMappingCuration MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 craniodiaphyseal dysplasia semapv:ManualMappingCuration MONDO:0009033 temtamy syndrome skos:exactMatch OMIM:218340 temtamy syndrome semapv:ManualMappingCuration MONDO:0009034 craniofacial dyssynostosis skos:exactMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:ManualMappingCuration MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:ManualMappingCuration MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:ManualMappingCuration MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch OMIM:218530 craniosynostosis with anomalies of the cranial base and digits semapv:ManualMappingCuration MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:ManualMappingCuration MONDO:0009039 Baller-Gerold syndrome skos:exactMatch OMIM:218600 baller-gerold syndrome semapv:ManualMappingCuration MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch OMIM:218649 lin-getting syndrome semapv:ManualMappingCuration MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch OMIM:218650 craniosynostosis-impaired intellectual development-clefting syndrome semapv:ManualMappingCuration MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch OMIM:218670 craniotelencephalic dysplasia semapv:ManualMappingCuration MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch OMIM:218900 crome syndrome semapv:ManualMappingCuration MONDO:0009047 cryptorchidism skos:exactMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:ManualMappingCuration MONDO:0009048 curved nail of fourth toe skos:exactMatch OMIM:219070 curved nail of fourth toe semapv:ManualMappingCuration MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch OMIM:219090 pituitary adenoma 4, acth-secreting semapv:ManualMappingCuration MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:ManualMappingCuration MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch OMIM:219100 cutis laxa, autosomal recessive, type 1a semapv:ManualMappingCuration MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch OMIM:219150 cutis laxa, autosomal recessive, type 3a semapv:ManualMappingCuration MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch OMIM:219250 cutis marmorata telangiectatica congenita semapv:ManualMappingCuration MONDO:0009056 cutis verticis gyrata and intellectual disability skos:exactMatch OMIM:219300 cutis verticis gyrata and impaired intellectual development semapv:ManualMappingCuration MONDO:0009057 cyanosis and hepatic disease skos:exactMatch OMIM:219400 cyanosis and hepatic disease semapv:ManualMappingCuration MONDO:0009058 cystathioninuria skos:exactMatch OMIM:219500 cystathioninuria semapv:ManualMappingCuration MONDO:0009059 cysteine Peptiduria skos:exactMatch OMIM:219550 cysteine peptiduria semapv:ManualMappingCuration MONDO:0009060 cystic disease of lung skos:exactMatch OMIM:219600 polycystic lung disease semapv:ManualMappingCuration MONDO:0009061 cystic fibrosis skos:exactMatch OMIM:219700 cystic fibrosis semapv:ManualMappingCuration MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:ManualMappingCuration MONDO:0009064 ocular cystinosis skos:exactMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:ManualMappingCuration MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic type semapv:ManualMappingCuration MONDO:0009067 cystinuria skos:exactMatch OMIM:220100 cystinuria semapv:ManualMappingCuration MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch OMIM:220111 mitochondrial complex 4 deficiency, nuclear type 5 semapv:ManualMappingCuration MONDO:0009070 D-glyceric aciduria skos:exactMatch OMIM:220120 d-glyceric aciduria semapv:ManualMappingCuration MONDO:0009072 Dandy-Walker syndrome skos:exactMatch OMIM:220200 dandy-walker syndrome semapv:ManualMappingCuration MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:ManualMappingCuration MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch OMIM:220219 dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy semapv:ManualMappingCuration MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:ManualMappingCuration MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch OMIM:220290 deafness, autosomal recessive 1a semapv:ManualMappingCuration MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch OMIM:220300 deafness, congenital, and familial myoclonic epilepsy semapv:ManualMappingCuration MONDO:0009079 DOORS syndrome skos:exactMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:ManualMappingCuration MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:ManualMappingCuration MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch OMIM:220900 deafness, congenital, with total albinism semapv:ManualMappingCuration MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch OMIM:221200 deafness and myopia semapv:ManualMappingCuration MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:ManualMappingCuration MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:ManualMappingCuration MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:ManualMappingCuration MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:ManualMappingCuration MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch OMIM:221500 deafness, neural, congenital moderate semapv:ManualMappingCuration MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch OMIM:221700 deafness, neural, with atypical atopic dermatitis semapv:ManualMappingCuration MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch OMIM:221740 deafness-oligodontia syndrome semapv:ManualMappingCuration MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch OMIM:221745 deafness, sensorineural, autosomal-mitochondrial type semapv:ManualMappingCuration MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:ManualMappingCuration MONDO:0009093 dermatoleukodystrophy skos:exactMatch OMIM:221790 dermatoleukodystrophy semapv:ManualMappingCuration MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch OMIM:221800 dermochondrocorneal dystrophy semapv:ManualMappingCuration MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch OMIM:221810 dermatoosteolysis, kirghizian type semapv:ManualMappingCuration MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:ManualMappingCuration MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch OMIM:221950 dextrocardia with unusual facies and microphthalmia semapv:ManualMappingCuration MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch OMIM:221995 diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification semapv:ManualMappingCuration MONDO:0009101 Wolfram syndrome 1 skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:ManualMappingCuration MONDO:0009102 diaminopentanuria skos:exactMatch OMIM:222350 diaminopentanuria semapv:ManualMappingCuration MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch OMIM:222400 diaphragmatic hernia 2 semapv:ManualMappingCuration MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch OMIM:222448 donnai-barrow syndrome semapv:ManualMappingCuration MONDO:0009106 diastematomyelia skos:exactMatch OMIM:222500 diastematomyelia semapv:ManualMappingCuration MONDO:0009107 diastrophic dysplasia skos:exactMatch OMIM:222600 diastrophic dysplasia semapv:ManualMappingCuration MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch OMIM:222690 dibasic amino aciduria 1 semapv:ManualMappingCuration MONDO:0009109 lysinuric protein intolerance skos:exactMatch OMIM:222700 lysinuric protein intolerance semapv:ManualMappingCuration MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch OMIM:222730 dicarboxylic aminoaciduria semapv:ManualMappingCuration MONDO:0009111 dihydropyrimidinuria skos:exactMatch OMIM:222748 dihydropyrimidinase deficiency semapv:ManualMappingCuration MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, type 2 semapv:ManualMappingCuration MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch OMIM:222800 erythrocytosis, familial, 8 semapv:ManualMappingCuration MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:ManualMappingCuration MONDO:0009115 congenital lactase deficiency skos:exactMatch OMIM:223000 lactase deficiency, congenital semapv:ManualMappingCuration MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:ManualMappingCuration MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch OMIM:223300 disseminated sclerosis with narcolepsy semapv:ManualMappingCuration MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch OMIM:223320 diverticulosis, small-intestinal semapv:ManualMappingCuration MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch OMIM:223330 diverticulosis of bowel, hernia, and retinal detachment semapv:ManualMappingCuration MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch OMIM:223340 dk phocomelia syndrome semapv:ManualMappingCuration MONDO:0009122 Dohle bodies and leukemia skos:exactMatch OMIM:223350 dohle bodies and leukemia semapv:ManualMappingCuration MONDO:0009123 orthostatic hypotension 1 skos:exactMatch OMIM:223360 orthostatic hypotension 1 semapv:ManualMappingCuration MONDO:0009124 Dubowitz syndrome skos:exactMatch OMIM:223370 dubowitz syndrome semapv:ManualMappingCuration MONDO:0009125 obsolete dopamine beta-hydroxylase, plasma, thermolability of skos:exactMatch OMIM:223380 dopamine beta-hydroxylase, plasma, thermolability of semapv:ManualMappingCuration MONDO:0009126 duodenal atresia skos:exactMatch OMIM:223400 duodenal atresia semapv:ManualMappingCuration MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch OMIM:223500 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone semapv:ManualMappingCuration MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch OMIM:223540 mollica syndrome semapv:ManualMappingCuration MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch OMIM:223550 dwarfism, proportionate, with hip dislocation semapv:ManualMappingCuration MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch OMIM:223800 dyggve-melchior-clausen disease semapv:ManualMappingCuration MONDO:0009131 Riley-Day syndrome skos:exactMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 semapv:ManualMappingCuration MONDO:0009132 dysautonomia-like disorder skos:exactMatch OMIM:224000 dysautonomia-like disorder semapv:ManualMappingCuration MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch OMIM:224100 anemia, congenital dyserythropoietic, type 2 semapv:ManualMappingCuration MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch OMIM:224120 anemia, congenital dyserythropoietic, type ia semapv:ManualMappingCuration MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch OMIM:224230 dyskeratosis congenita, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0009137 dysmyelination with jaundice skos:exactMatch OMIM:224250 dysmyelination with jaundice semapv:ManualMappingCuration MONDO:0009138 dysosteosclerosis skos:exactMatch OMIM:224300 dysosteosclerosis semapv:ManualMappingCuration MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois type semapv:ManualMappingCuration MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker type semapv:ManualMappingCuration MONDO:0009141 torsion dystonia 2 skos:exactMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:ManualMappingCuration MONDO:0009142 dystonia with Ringbinden skos:exactMatch OMIM:224550 dystonia with ringbinden semapv:ManualMappingCuration MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:ManualMappingCuration MONDO:0009144 Ebstein anomaly skos:exactMatch OMIM:224700 ebstein anomaly semapv:ManualMappingCuration MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:ManualMappingCuration MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:ManualMappingCuration MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:ManualMappingCuration MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch OMIM:225000 rosselli-gulienetti syndrome semapv:ManualMappingCuration MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:ManualMappingCuration MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:ManualMappingCuration MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:ManualMappingCuration MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch OMIM:225100 ectopia lentis 2, isolated, autosomal recessive semapv:ManualMappingCuration MONDO:0009153 ectopia lentis et pupillae skos:exactMatch OMIM:225200 ectopia lentis et pupillae semapv:ManualMappingCuration MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch OMIM:225250 hypothyroidism, congenital, nongoitrous, 5 semapv:ManualMappingCuration MONDO:0009155 EEM syndrome skos:exactMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:ManualMappingCuration MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch OMIM:225290 ectrodactyly-polydactyly semapv:ManualMappingCuration MONDO:0009157 split hand-foot malformation 6 skos:exactMatch OMIM:225300 split-hand/foot malformation 6 semapv:ManualMappingCuration MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:ManualMappingCuration MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular type semapv:ManualMappingCuration MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch OMIM:225500 ellis-van creveld syndrome semapv:ManualMappingCuration MONDO:0009163 encephalomalacia, multilocular skos:exactMatch OMIM:225700 encephalomalacia, multilocular semapv:ManualMappingCuration MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:ManualMappingCuration MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:ManualMappingCuration MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch OMIM:225753 pontocerebellar hypoplasia, type 4 semapv:ManualMappingCuration MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:ManualMappingCuration MONDO:0009168 Fowler syndrome skos:exactMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:ManualMappingCuration MONDO:0009169 endocardial fibroelastosis skos:exactMatch OMIM:226000 endocardial fibroelastosis semapv:ManualMappingCuration MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch OMIM:226100 endocardial fibroelastosis and coarctation of abdominal aorta semapv:ManualMappingCuration MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch OMIM:226110 endothelial dystrophy, congenital hereditary, with nail hypoplasia semapv:ManualMappingCuration MONDO:0009172 enterocolitis skos:exactMatch OMIM:226150 enterocolitis semapv:ManualMappingCuration MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch OMIM:226200 enterokinase deficiency semapv:ManualMappingCuration MONDO:0009174 protein-losing enteropathy skos:exactMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:ManualMappingCuration MONDO:0009175 eosinophilic fasciitis skos:exactMatch OMIM:226350 eosinophilic fasciitis semapv:ManualMappingCuration MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with impaired intellectual development semapv:ManualMappingCuration MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:ManualMappingCuration MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:ManualMappingCuration MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:ManualMappingCuration MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:ManualMappingCuration MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch OMIM:226700 epidermolysis bullosa, junctional 1b, severe semapv:ManualMappingCuration MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:ManualMappingCuration MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch OMIM:226735 epidermolysis bullosa with diaphragmatic hernia semapv:ManualMappingCuration MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch OMIM:226750 kohlschutter-tonz syndrome semapv:ManualMappingCuration MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch OMIM:226800 epilepsy, photogenic, with spastic diplegia and impaired intellectual development semapv:ManualMappingCuration MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:ManualMappingCuration MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch OMIM:226850 epilepsy-telangiectasia semapv:ManualMappingCuration MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:ManualMappingCuration MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch OMIM:226950 epiphyseal dysplasia of femoral head, myopia, and deafness semapv:ManualMappingCuration MONDO:0009191 Lowry-Wood syndrome skos:exactMatch OMIM:226960 lowry-wood syndrome semapv:ManualMappingCuration MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:ManualMappingCuration MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch OMIM:226985 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract semapv:ManualMappingCuration MONDO:0009194 immunodeficiency 32B skos:exactMatch OMIM:226990 immunodeficiency 32b semapv:ManualMappingCuration MONDO:0009195 erythema of acral regions skos:exactMatch OMIM:227000 erythema of acral regions semapv:ManualMappingCuration MONDO:0009196 ermine phenotype skos:exactMatch OMIM:227010 ermine phenotype semapv:ManualMappingCuration MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch OMIM:227050 transient erythroblastopenia of childhood semapv:ManualMappingCuration MONDO:0009198 congenital lethal erythroderma skos:exactMatch OMIM:227090 erythroderma, lethal congenital semapv:ManualMappingCuration MONDO:0009199 ethanolaminosis skos:exactMatch OMIM:227150 ethanolaminosis semapv:ManualMappingCuration MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:ManualMappingCuration MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch OMIM:227250 facial abnormalities, kyphoscoliosis, and impaired intellectual development semapv:ManualMappingCuration MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:ManualMappingCuration MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch OMIM:227260 focal facial dermal dysplasia 3, setleis type semapv:ManualMappingCuration MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:ManualMappingCuration MONDO:0009205 faciocardiorenal syndrome skos:exactMatch OMIM:227280 faciocardiorenal syndrome semapv:ManualMappingCuration MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:ManualMappingCuration MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:exactMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:ManualMappingCuration MONDO:0009208 faciothoracogenital syndrome skos:exactMatch OMIM:227320 faciothoracogenital syndrome semapv:ManualMappingCuration MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0009210 congenital factor V deficiency skos:exactMatch OMIM:227400 factor 5 deficiency semapv:ManualMappingCuration MONDO:0009211 congenital factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:ManualMappingCuration MONDO:0009212 congenital factor X deficiency skos:exactMatch OMIM:227600 factor 10 deficiency semapv:ManualMappingCuration MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch OMIM:227645 fanconi anemia, complementation group c semapv:ManualMappingCuration MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:ManualMappingCuration MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:ManualMappingCuration MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch OMIM:227810 fanconi-bickel syndrome semapv:ManualMappingCuration MONDO:0009217 Fanconi-like syndrome skos:exactMatch OMIM:227850 fanconi-like syndrome semapv:ManualMappingCuration MONDO:0009218 Farber lipogranulomatosis skos:exactMatch OMIM:228000 farber lipogranulomatosis semapv:ManualMappingCuration MONDO:0009219 fascial dystrophy, congenital skos:exactMatch OMIM:228020 fascial dystrophy, congenital semapv:ManualMappingCuration MONDO:0009220 visceral steatosis, congenital skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:ManualMappingCuration MONDO:0009221 femur-fibula-ulna complex skos:exactMatch OMIM:228200 femur-fibula-ulna syndrome semapv:ManualMappingCuration MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch OMIM:228250 gollop-wolfgang complex semapv:ManualMappingCuration MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch OMIM:228300 hypogonadotropic hypogonadism 23 with or without anosmia semapv:ManualMappingCuration MONDO:0009224 fetal iodine syndrome skos:exactMatch OMIM:228355 fetal iodine deficiency disorder semapv:ManualMappingCuration MONDO:0009225 fever, familial lifelong persistent skos:exactMatch OMIM:228400 fever, familial lifelong persistent semapv:ManualMappingCuration MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch OMIM:228520 fibrochondrogenesis 1 semapv:ManualMappingCuration MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:ManualMappingCuration MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:ManualMappingCuration MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch OMIM:228600 hyaline fibromatosis syndrome semapv:ManualMappingCuration MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch OMIM:228800 fibrosclerosis, multifocal semapv:ManualMappingCuration MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch OMIM:228900 acromesomelic dysplasia 2b semapv:ManualMappingCuration MONDO:0009232 Fuhrmann syndrome skos:exactMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly semapv:ManualMappingCuration MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:ManualMappingCuration MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch OMIM:228960 high molecular weight kininogen deficiency semapv:ManualMappingCuration MONDO:0009235 familial benign flecked retina skos:exactMatch OMIM:228980 fleck retina, familial benign semapv:ManualMappingCuration MONDO:0009236 Kandori fleck retina skos:exactMatch OMIM:228990 fleck retina of kandori semapv:ManualMappingCuration MONDO:0009237 focal epithelial hyperplasia skos:exactMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:ManualMappingCuration MONDO:0009238 hereditary folate malabsorption skos:exactMatch OMIM:229050 folate malabsorption, hereditary semapv:ManualMappingCuration MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:ManualMappingCuration MONDO:0009240 formiminoglutamic aciduria skos:exactMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:ManualMappingCuration MONDO:0009241 fountain syndrome skos:exactMatch OMIM:229120 fountain syndrome semapv:ManualMappingCuration MONDO:0009243 Fraser-like syndrome skos:exactMatch OMIM:229230 fraser-like syndrome semapv:ManualMappingCuration MONDO:0009244 Freesia Flowers, inability to smell skos:exactMatch OMIM:229250 freesia flowers, inability to smell semapv:ManualMappingCuration MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch OMIM:229310 friedreich ataxia and congenital glaucoma semapv:ManualMappingCuration MONDO:0009247 frontofacionasal dysplasia skos:exactMatch OMIM:229400 frontofacionasal dysplasia semapv:ManualMappingCuration MONDO:0009248 fructose and galactose intolerance skos:exactMatch OMIM:229500 fructose and galactose intolerance semapv:ManualMappingCuration MONDO:0009249 hereditary fructose intolerance skos:exactMatch OMIM:229600 fructose intolerance, hereditary semapv:ManualMappingCuration MONDO:0009250 obsolete fructose utilization skos:exactMatch OMIM:229650 fructose utilization semapv:ManualMappingCuration MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch OMIM:229700 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration MONDO:0009252 essential fructosuria skos:exactMatch OMIM:229800 fructosuria, essential semapv:ManualMappingCuration MONDO:0009253 Fryns syndrome skos:exactMatch OMIM:229850 fryns syndrome semapv:ManualMappingCuration MONDO:0009254 fucosidosis skos:exactMatch OMIM:230000 fucosidosis semapv:ManualMappingCuration MONDO:0009255 galactokinase deficiency skos:exactMatch OMIM:230200 galactosemia 2 semapv:ManualMappingCuration MONDO:0009257 galactose epimerase deficiency skos:exactMatch OMIM:230350 galactosemia 3 semapv:ManualMappingCuration MONDO:0009258 classic galactosemia skos:exactMatch OMIM:230400 galactosemia 1 semapv:ManualMappingCuration MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch OMIM:230450 anemia, congenital, nonspherocytic hemolytic, 7 semapv:ManualMappingCuration MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch OMIM:230500 gm1-gangliosidosis, type 1 semapv:ManualMappingCuration MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch OMIM:230600 gm1-gangliosidosis, type 2 semapv:ManualMappingCuration MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch OMIM:230650 gm1-gangliosidosis, type 3 semapv:ManualMappingCuration MONDO:0009263 GAPO syndrome skos:exactMatch OMIM:230740 gapo syndrome semapv:ManualMappingCuration MONDO:0009264 gastroschisis skos:exactMatch OMIM:230750 gastroschisis semapv:ManualMappingCuration MONDO:0009265 Gaucher disease type I skos:exactMatch OMIM:230800 gaucher disease, type 1 semapv:ManualMappingCuration MONDO:0009266 Gaucher disease type II skos:exactMatch OMIM:230900 gaucher disease, type 2 semapv:ManualMappingCuration MONDO:0009267 Gaucher disease type III skos:exactMatch OMIM:231000 gaucher disease, type 3 semapv:ManualMappingCuration MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch OMIM:231005 gaucher disease, type 3c semapv:ManualMappingCuration MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch OMIM:231050 geleophysic dysplasia 1 semapv:ManualMappingCuration MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch OMIM:231060 genitopalatocardiac syndrome semapv:ManualMappingCuration MONDO:0009271 geroderma osteodysplastica skos:exactMatch OMIM:231070 geroderma osteodysplasticum semapv:ManualMappingCuration MONDO:0009272 German syndrome skos:exactMatch OMIM:231080 german syndrome semapv:ManualMappingCuration MONDO:0009273 hydatidiform mole, recurrent, 1 skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:ManualMappingCuration MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:ManualMappingCuration MONDO:0009275 neonatal hemochromatosis skos:exactMatch OMIM:231100 hemochromatosis, neonatal semapv:ManualMappingCuration MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch OMIM:231200 bernard-soulier syndrome semapv:ManualMappingCuration MONDO:0009277 glaucoma 3A skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:ManualMappingCuration MONDO:0009279 triple-A syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:ManualMappingCuration MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch OMIM:231630 monosodium glutamate sensitivity semapv:ManualMappingCuration MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231670 glutaric acidemia 1 semapv:ManualMappingCuration MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0009283 glutaric acidemia type 3 skos:exactMatch OMIM:231690 glutaric aciduria 3 semapv:ManualMappingCuration MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch OMIM:231900 anemia, congenital, nonspherocytic hemolytic, 6 semapv:ManualMappingCuration MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch OMIM:231950 glutathionuria semapv:ManualMappingCuration MONDO:0009286 gluteal muscles, absence of skos:exactMatch OMIM:231970 gluteal muscles, absence of semapv:ManualMappingCuration MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:ManualMappingCuration MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232220 glycogen storage disease ib semapv:ManualMappingCuration MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:ManualMappingCuration MONDO:0009290 glycogen storage disease II skos:exactMatch OMIM:232300 pompe disease semapv:ManualMappingCuration MONDO:0009291 glycogen storage disease III skos:exactMatch OMIM:232400 glycogen storage disease 3 semapv:ManualMappingCuration MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch OMIM:232500 glycogen storage disease 4 semapv:ManualMappingCuration MONDO:0009293 glycogen storage disease V skos:exactMatch OMIM:232600 glycogen storage disease 5 semapv:ManualMappingCuration MONDO:0009294 glycogen storage disease VI skos:exactMatch OMIM:232700 glycogen storage disease 6 semapv:ManualMappingCuration MONDO:0009295 glycogen storage disease VII skos:exactMatch OMIM:232800 glycogen storage disease 7 semapv:ManualMappingCuration MONDO:0009296 glycoprotein storage disease skos:exactMatch OMIM:232900 glycoprotein storage disease semapv:ManualMappingCuration MONDO:0009297 familial renal glucosuria skos:exactMatch OMIM:233100 renal glucosuria semapv:ManualMappingCuration MONDO:0009298 GOMBO syndrome skos:exactMatch OMIM:233270 gombo syndrome semapv:ManualMappingCuration MONDO:0009300 Perrault syndrome 1 skos:exactMatch OMIM:233400 perrault syndrome 1 semapv:ManualMappingCuration MONDO:0009301 46,XY sex reversal 7 skos:exactMatch OMIM:233420 46,xy sex reversal 7 semapv:ManualMappingCuration MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch OMIM:233450 goodpasture syndrome semapv:ManualMappingCuration MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch OMIM:233600 immunodeficiency 59 and hypoglycemia semapv:ManualMappingCuration MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:ManualMappingCuration MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:ManualMappingCuration MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:ManualMappingCuration MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:ManualMappingCuration MONDO:0009311 grouped pigmentation of the retina skos:exactMatch OMIM:233800 grouped pigmentation of the retina semapv:ManualMappingCuration MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch OMIM:233805 growth factors, combined defect of semapv:ManualMappingCuration MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:ManualMappingCuration MONDO:0009315 congenital factor XII deficiency skos:exactMatch OMIM:234000 factor 12 deficiency semapv:ManualMappingCuration MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch OMIM:234100 hallermann-streiff syndrome semapv:ManualMappingCuration MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:ManualMappingCuration MONDO:0009320 Hall-Riggs syndrome skos:exactMatch OMIM:234250 hall-riggs syndrome semapv:ManualMappingCuration MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:ManualMappingCuration MONDO:0009322 obsolete halo nevi skos:exactMatch OMIM:234300 halo nevi semapv:ManualMappingCuration MONDO:0009323 Halothane hepatitis skos:exactMatch OMIM:234350 halothane hepatitis semapv:ManualMappingCuration MONDO:0009324 Hartnup disease skos:exactMatch OMIM:234500 hartnup disorder semapv:ManualMappingCuration MONDO:0009326 congenital heart block skos:exactMatch OMIM:234700 heart block, congenital semapv:ManualMappingCuration MONDO:0009327 heart, malformation of skos:exactMatch OMIM:140500 heart, malformation of semapv:ManualMappingCuration MONDO:0009327 heart, malformation of skos:exactMatch OMIM:234750 heart, malformation of semapv:ManualMappingCuration MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch OMIM:234800 hemangiomatosis, cutaneous, with associated features semapv:ManualMappingCuration MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:ManualMappingCuration MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch OMIM:234820 hemangiopericytoma, malignant semapv:ManualMappingCuration MONDO:0009331 isolated hemihyperplasia skos:exactMatch OMIM:235000 hemihyperplasia, isolated semapv:ManualMappingCuration MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:ManualMappingCuration MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch OMIM:235370 hemolytic anemia with thermal sensitivity of red cells semapv:ManualMappingCuration MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:exactMatch OMIM:235500 hemosiderosis, pulmonary, with deficiency of gamma-a globulin semapv:ManualMappingCuration MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:ManualMappingCuration MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:ManualMappingCuration MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:ManualMappingCuration MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch OMIM:235700 anemia, congenital, nonspherocytic hemolytic, 5 semapv:ManualMappingCuration MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch OMIM:235730 mowat-wilson syndrome semapv:ManualMappingCuration MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:ManualMappingCuration MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch OMIM:235750 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect semapv:ManualMappingCuration MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:ManualMappingCuration MONDO:0009345 histidinemia skos:exactMatch OMIM:235800 histidinemia semapv:ManualMappingCuration MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch OMIM:235830 histidinuria due to a renal tubular defect semapv:ManualMappingCuration MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch OMIM:235900 histiocytosis, familial lipochrome semapv:ManualMappingCuration MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:ManualMappingCuration MONDO:0009349 holoprosencephaly 1 skos:exactMatch OMIM:236100 holoprosencephaly 1 semapv:ManualMappingCuration MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch OMIM:236110 holzgreve syndrome semapv:ManualMappingCuration MONDO:0009351 homocarnosinosis skos:exactMatch OMIM:236130 homocarnosinosis semapv:ManualMappingCuration MONDO:0009352 classic homocystinuria skos:exactMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:ManualMappingCuration MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:ManualMappingCuration MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch OMIM:236270 homocystinuria-megaloblastic anemia, cble type semapv:ManualMappingCuration MONDO:0009355 Hooft disease skos:exactMatch OMIM:236300 hooft disease semapv:ManualMappingCuration MONDO:0009356 autosomal recessive humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:ManualMappingCuration MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch OMIM:236410 humeroradial synostosis with craniofacial anomalies semapv:ManualMappingCuration MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:ManualMappingCuration MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:ManualMappingCuration MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:exactMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:ManualMappingCuration MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:ManualMappingCuration MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch OMIM:236640 hydrocephalus with associated malformations semapv:ManualMappingCuration MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:ManualMappingCuration MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 semapv:ManualMappingCuration MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch OMIM:236680 hydrolethalus syndrome 1 semapv:ManualMappingCuration MONDO:0009366 normal pressure hydrocephalus skos:exactMatch OMIM:236690 hydrocephalus, normal-pressure, 1 semapv:ManualMappingCuration MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch OMIM:236700 mckusick-kaufman syndrome semapv:ManualMappingCuration MONDO:0009368 urofacial syndrome type 1 skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:ManualMappingCuration MONDO:0009369 non-immune hydrops fetalis skos:exactMatch OMIM:236750 hydrops fetalis, nonimmune semapv:ManualMappingCuration MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:236792 l-2-hydroxyglutaric aciduria semapv:ManualMappingCuration MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch OMIM:236795 3-hydroxyisobutyric aciduria semapv:ManualMappingCuration MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch OMIM:236800 hydroxykynureninuria semapv:ManualMappingCuration MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch OMIM:236900 hydroxylysinuria semapv:ManualMappingCuration MONDO:0009374 hydroxyprolinemia skos:exactMatch OMIM:237000 hydroxyprolinemia semapv:ManualMappingCuration MONDO:0009375 hymen, imperforate skos:exactMatch OMIM:237100 hymen, imperforate semapv:ManualMappingCuration MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:ManualMappingCuration MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:ManualMappingCuration MONDO:0009378 hyper-beta-alaninemia skos:exactMatch OMIM:237400 hyper-beta-alaninemia semapv:ManualMappingCuration MONDO:0009379 Rotor syndrome skos:exactMatch OMIM:237450 hyperbilirubinemia, rotor type semapv:ManualMappingCuration MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch OMIM:237500 dubin-johnson syndrome semapv:ManualMappingCuration MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch OMIM:237550 hyperbilirubinemia, conjugated, type 3 semapv:ManualMappingCuration MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch OMIM:237800 hyperbilirubinemia, shunt, primary semapv:ManualMappingCuration MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:ManualMappingCuration MONDO:0009384 Leydig cell hypoplasia, type 1 skos:exactMatch OMIM:238320 leydig cell hypoplasia, type 1 semapv:ManualMappingCuration MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch OMIM:238340 hyperleucine-isoleucinemia semapv:ManualMappingCuration MONDO:0009386 hyperlexia skos:exactMatch OMIM:238350 hyperlexia semapv:ManualMappingCuration MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch OMIM:238600 hyperlipoproteinemia, type 1 semapv:ManualMappingCuration MONDO:0009388 hyperlysinemia skos:exactMatch OMIM:238700 hyperlysinemia, type 1 semapv:ManualMappingCuration MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch OMIM:238710 hyperlysinemia due to defect 1n lysine transport into mitochondria semapv:ManualMappingCuration MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:ManualMappingCuration MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch OMIM:238800 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 semapv:ManualMappingCuration MONDO:0009392 hyperopia, high skos:exactMatch OMIM:238950 hyperopia, high semapv:ManualMappingCuration MONDO:0009393 ornithine translocase deficiency skos:exactMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:ManualMappingCuration MONDO:0009394 juvenile Paget disease skos:exactMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:ManualMappingCuration MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch OMIM:239100 van buchem disease semapv:ManualMappingCuration MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch OMIM:239199 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria semapv:ManualMappingCuration MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:ManualMappingCuration MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:ManualMappingCuration MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch OMIM:239350 hyperphosphatemia, polyuria, and seizures semapv:ManualMappingCuration MONDO:0009400 hyperprolinemia type 1 skos:exactMatch OMIM:239500 hyperprolinemia, type 1 semapv:ManualMappingCuration MONDO:0009401 hyperprolinemia type 2 skos:exactMatch OMIM:239510 hyperprolinemia, type 2 semapv:ManualMappingCuration MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:ManualMappingCuration MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch OMIM:239711 hypertelorism and tetralogy of fallot semapv:ManualMappingCuration MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch OMIM:239800 hypertelorism, microtia, facial clefting syndrome semapv:ManualMappingCuration MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:ManualMappingCuration MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch OMIM:239850 cantu syndrome semapv:ManualMappingCuration MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch OMIM:239900 hypertrophic neuropathy and cataract semapv:ManualMappingCuration MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch OMIM:240000 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase semapv:ManualMappingCuration MONDO:0009409 hypervitaminosis a, susceptibility to skos:exactMatch OMIM:240150 hypervitaminosis a, susceptibility to semapv:ManualMappingCuration MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch OMIM:240300 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia semapv:ManualMappingCuration MONDO:0009412 scurvy skos:exactMatch OMIM:240400 hypoascorbemia semapv:ManualMappingCuration MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:ManualMappingCuration MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch OMIM:240600 glycogen storage disease 0, liver semapv:ManualMappingCuration MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch OMIM:240800 hypoglycemia, leucine-induced semapv:ManualMappingCuration MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:ManualMappingCuration MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch OMIM:240950 hypogonadism-cataract syndrome semapv:ManualMappingCuration MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch OMIM:241000 hypogonadism with low-grade mental deficiency and microcephaly semapv:ManualMappingCuration MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch OMIM:241080 woodhouse-sakati syndrome semapv:ManualMappingCuration MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:ManualMappingCuration MONDO:0009421 hypogonadism, male skos:exactMatch OMIM:241100 hypogonadism, male semapv:ManualMappingCuration MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:ManualMappingCuration MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:ManualMappingCuration MONDO:0009424 Bartter disease type 2 skos:exactMatch OMIM:241200 bartter syndrome, type 2, antenatal semapv:ManualMappingCuration MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch OMIM:241310 hypomandibular faciocranial dysostosis semapv:ManualMappingCuration MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:ManualMappingCuration MONDO:0009427 obsolete infantile hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:ManualMappingCuration MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch OMIM:241510 hypophosphatasia, childhood semapv:ManualMappingCuration MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch OMIM:241519 hypophosphatemia, renal, with intracerebral calcifications semapv:ManualMappingCuration MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:ManualMappingCuration MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:ManualMappingCuration MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch OMIM:241540 hypopituitarism, congenital, with central diabetes insipidus semapv:ManualMappingCuration MONDO:0009433 hypoplastic left heart syndrome 1 skos:exactMatch OMIM:241550 hypoplastic left heart syndrome 1 semapv:ManualMappingCuration MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch OMIM:241600 immunodeficiency 43 semapv:ManualMappingCuration MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch OMIM:241760 hypospadias-impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch OMIM:241800 pallister-hall-like syndrome semapv:ManualMappingCuration MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch OMIM:241850 bamforth-lazarus syndrome semapv:ManualMappingCuration MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch OMIM:242050 hypouricemia, hypercalcinuria, and decreased bone density semapv:ManualMappingCuration MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch OMIM:242400 ichthyosis congenita with biliary atresia semapv:ManualMappingCuration MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:ManualMappingCuration MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development semapv:ManualMappingCuration MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:ManualMappingCuration MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch OMIM:242530 ichthyosis, impaired intellectual development, dwarfism, and renal impairment semapv:ManualMappingCuration MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch OMIM:242550 ichthyosis, split hairs, and amino aciduria semapv:ManualMappingCuration MONDO:0009448 iminoglycinuria skos:exactMatch OMIM:242600 iminoglycinuria semapv:ManualMappingCuration MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:ManualMappingCuration MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:ManualMappingCuration MONDO:0009451 Nezelof syndrome skos:exactMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:ManualMappingCuration MONDO:0009452 Vici syndrome skos:exactMatch OMIM:242840 vici syndrome semapv:ManualMappingCuration MONDO:0009453 immune deficiency disease skos:exactMatch OMIM:242850 immune deficiency disease semapv:ManualMappingCuration MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:ManualMappingCuration MONDO:0009455 obsolete immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch OMIM:242870 semapv:ManualMappingCuration MONDO:0009456 Immunoerythromyeloid hypoplasia skos:exactMatch OMIM:242880 immunoerythromyeloid hypoplasia semapv:ManualMappingCuration MONDO:0009457 immunoglobulin d level in plasma, low skos:exactMatch OMIM:242890 immunoglobulin d level 1n plasma, low semapv:ManualMappingCuration MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch OMIM:242900 schimke immunoosseous dysplasia semapv:ManualMappingCuration MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:ManualMappingCuration MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch OMIM:243050 indolylacroyl glycinuria with impaired intellectual development semapv:ManualMappingCuration MONDO:0009461 spermatogenic failure 5 skos:exactMatch OMIM:243060 spermatogenic failure 5 semapv:ManualMappingCuration MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch OMIM:243080 inosine phosphorylase deficiency, immune defect due to semapv:ManualMappingCuration MONDO:0009463 internal carotid arteries, hypoplasia of skos:exactMatch OMIM:243100 internal carotid arteries, hypoplasia of semapv:ManualMappingCuration MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:exactMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:ManualMappingCuration MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:ManualMappingCuration MONDO:0009468 pseudotumor cerebri skos:exactMatch OMIM:243200 intracranial hypertension, idiopathic semapv:ManualMappingCuration MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:ManualMappingCuration MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch OMIM:243310 baraitser-winter syndrome 1 semapv:ManualMappingCuration MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch OMIM:243320 intrinsic factor and r binder, combined congenital deficiency of semapv:ManualMappingCuration MONDO:0009472 acetylation, slow skos:exactMatch OMIM:243400 acetylation, slow semapv:ManualMappingCuration MONDO:0009473 isotretinoin-like syndrome skos:exactMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:ManualMappingCuration MONDO:0009474 isovaleric acid, inability to smell skos:exactMatch OMIM:243450 isovaleric acid, inability to smell semapv:ManualMappingCuration MONDO:0009475 isovaleric acidemia skos:exactMatch OMIM:243500 isovaleric acidemia semapv:ManualMappingCuration MONDO:0009476 atresia of small intestine skos:exactMatch OMIM:243600 jejunal atresia semapv:ManualMappingCuration MONDO:0009477 Stromme syndrome skos:exactMatch OMIM:243605 stromme syndrome semapv:ManualMappingCuration MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch OMIM:243700 hyper-ige syndrome 2, autosomal recessive, with recurrent infections semapv:ManualMappingCuration MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch OMIM:243800 johanson-blizzard syndrome semapv:ManualMappingCuration MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch OMIM:243910 arima syndrome semapv:ManualMappingCuration MONDO:0009481 Jumping Frenchmen of Maine skos:exactMatch OMIM:244100 jumping frenchmen of maine semapv:ManualMappingCuration MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia semapv:ManualMappingCuration MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch OMIM:244300 kapur-toriello syndrome semapv:ManualMappingCuration MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:ManualMappingCuration MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:ManualMappingCuration MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch OMIM:244460 kenny-caffey syndrome, type 1 semapv:ManualMappingCuration MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch OMIM:244510 keratoconus and congenital hip dysplasia semapv:ManualMappingCuration MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch OMIM:244600 keratoconus posticus circumscriptus semapv:ManualMappingCuration MONDO:0009490 Papillon-Lefevre disease skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:ManualMappingCuration MONDO:0009491 Haim-Munk syndrome skos:exactMatch OMIM:245010 haim-munk syndrome semapv:ManualMappingCuration MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:ManualMappingCuration MONDO:0009493 Richards-Rundle syndrome skos:exactMatch OMIM:245100 richards-rundle syndrome semapv:ManualMappingCuration MONDO:0009495 Keutel syndrome skos:exactMatch OMIM:245150 keutel syndrome semapv:ManualMappingCuration MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:ManualMappingCuration MONDO:0009497 Kifafa seizure disorder skos:exactMatch OMIM:245180 kifafa seizure disorder semapv:ManualMappingCuration MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch OMIM:245190 kniest-like dysplasia, lethal semapv:ManualMappingCuration MONDO:0009499 Krabbe disease skos:exactMatch OMIM:245200 krabbe disease semapv:ManualMappingCuration MONDO:0009500 kuru, susceptibility to skos:exactMatch OMIM:245300 kuru, susceptibility to semapv:ManualMappingCuration MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch OMIM:245340 erythrocyte lactate transporter defect semapv:ManualMappingCuration MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:ManualMappingCuration MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:ManualMappingCuration MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) semapv:ManualMappingCuration MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch OMIM:245450 d-lactic aciduria with gout semapv:ManualMappingCuration MONDO:0009507 Lambert syndrome skos:exactMatch OMIM:245550 lambert syndrome semapv:ManualMappingCuration MONDO:0009508 Lambotte syndrome skos:exactMatch OMIM:245552 lambotte syndrome semapv:ManualMappingCuration MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:ManualMappingCuration MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:ManualMappingCuration MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch OMIM:245650 larsen-like syndrome, lethal type semapv:ManualMappingCuration MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:ManualMappingCuration MONDO:0009514 Laurence-Moon syndrome skos:exactMatch OMIM:245800 laurence-moon syndrome semapv:ManualMappingCuration MONDO:0009515 Norum disease skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:ManualMappingCuration MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:ManualMappingCuration MONDO:0009517 Donohue syndrome skos:exactMatch OMIM:246200 donohue syndrome semapv:ManualMappingCuration MONDO:0009518 leprosy, susceptibility to, 3 skos:exactMatch OMIM:246300 leprosy, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0009519 letterer-Siwe disease skos:exactMatch OMIM:246400 letterer-siwe disease semapv:ManualMappingCuration MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:ManualMappingCuration MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch OMIM:246470 leukemia, acute myelocytic, with polyposis coli and colon cancer semapv:ManualMappingCuration MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch OMIM:246500 leukomelanoderma, infantilism, impaired intellectual development, hypodontia, hypotrichosis semapv:ManualMappingCuration MONDO:0009523 Lichtenstein syndrome skos:exactMatch OMIM:246550 lichtenstein syndrome semapv:ManualMappingCuration MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch OMIM:246555 limb defects, distal transverse, with impaired intellectual development and spasticity semapv:ManualMappingCuration MONDO:0009525 split hand-foot malformation 3 skos:exactMatch OMIM:246560 split-hand/foot malformation 3 semapv:ManualMappingCuration MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch OMIM:246570 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome semapv:ManualMappingCuration MONDO:0009527 lipase deficiency, combined skos:exactMatch OMIM:246650 lipase deficiency, combined semapv:ManualMappingCuration MONDO:0009528 chylomicron retention disease skos:exactMatch OMIM:246700 chylomicron retention disease semapv:ManualMappingCuration MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0009530 lipoid proteinosis skos:exactMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:ManualMappingCuration MONDO:0009531 obsolete lip prints skos:exactMatch OMIM:247150 lip prints semapv:ManualMappingCuration MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:ManualMappingCuration MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:ManualMappingCuration MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch OMIM:247430 lymphoblastic transformation, inhibition of semapv:ManualMappingCuration MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:ManualMappingCuration MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch OMIM:247450 lymphoblastic transformation, intrinsic defect 1n semapv:ManualMappingCuration MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch OMIM:247610 lymphoid interstitial pneumonia semapv:ManualMappingCuration MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch OMIM:247630 lymphoid system deterioration, progressive semapv:ManualMappingCuration MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:ManualMappingCuration MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch OMIM:247650 lymphokine deficiency semapv:ManualMappingCuration MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis semapv:ManualMappingCuration MONDO:0009542 lysine malabsorption syndrome skos:exactMatch OMIM:247950 lysine malabsorption syndrome semapv:ManualMappingCuration MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch OMIM:247990 macdermot-winter syndrome semapv:ManualMappingCuration MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch OMIM:248010 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance semapv:ManualMappingCuration MONDO:0009546 macrosomia adiposa congenita skos:exactMatch OMIM:248100 macrosomia adiposa congenita semapv:ManualMappingCuration MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:ManualMappingCuration MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:ManualMappingCuration MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch OMIM:248200 stargardt disease 1 semapv:ManualMappingCuration MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch OMIM:248250 hypomagnesemia 3, renal semapv:ManualMappingCuration MONDO:0009551 magnesium, elevated red cell skos:exactMatch OMIM:248260 magnesium, elevated red cell semapv:ManualMappingCuration MONDO:0009552 mal de Meleda skos:exactMatch OMIM:248300 mal lange meleda semapv:ManualMappingCuration MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:ManualMappingCuration MONDO:0009554 3MC syndrome 3 skos:exactMatch OMIM:248340 3mc syndrome 3 semapv:ManualMappingCuration MONDO:0009555 malocclusion and short stature skos:exactMatch OMIM:248350 malocclusion and short stature semapv:ManualMappingCuration MONDO:0009556 malonic aciduria skos:exactMatch OMIM:248360 malonyl-coa decarboxylase deficiency semapv:ManualMappingCuration MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch OMIM:248370 mandibuloacral dysplasia with type a lipodystrophy semapv:ManualMappingCuration MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch OMIM:248390 treacher collins syndrome 3 semapv:ManualMappingCuration MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch OMIM:248400 mandibulofacial dysostosis with impaired intellectual development semapv:ManualMappingCuration MONDO:0009560 oculotrichoanal syndrome skos:exactMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:ManualMappingCuration MONDO:0009561 alpha-mannosidosis skos:exactMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:ManualMappingCuration MONDO:0009562 beta-mannosidosis skos:exactMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:ManualMappingCuration MONDO:0009564 Marden-Walker syndrome skos:exactMatch OMIM:248700 marden-walker syndrome semapv:ManualMappingCuration MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:ManualMappingCuration MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch OMIM:248770 marfanoid impaired intellectual developmental syndrome, autosomal semapv:ManualMappingCuration MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch OMIM:248800 marinesco-sjogren syndrome semapv:ManualMappingCuration MONDO:0009568 mast syndrome skos:exactMatch OMIM:248900 mast syndrome semapv:ManualMappingCuration MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:ManualMappingCuration MONDO:0009570 McDonough syndrome skos:exactMatch OMIM:248950 mcdonough syndrome semapv:ManualMappingCuration MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch OMIM:249000 meckel syndrome, type 1 semapv:ManualMappingCuration MONDO:0009572 autosomal recessive familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:ManualMappingCuration MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch OMIM:249230 megaepiphyseal dwarfism semapv:ManualMappingCuration MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch OMIM:249240 megalencephaly with dysmyelination semapv:ManualMappingCuration MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:ManualMappingCuration MONDO:0009576 megalocornea skos:exactMatch OMIM:249300 megalocornea semapv:ManualMappingCuration MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch OMIM:249310 neuhauser syndrome semapv:ManualMappingCuration MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch OMIM:249400 melanosis, neurocutaneous semapv:ManualMappingCuration MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch OMIM:249420 frank-ter haar syndrome semapv:ManualMappingCuration MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch OMIM:249599 intellectual developmental disorder, belgian type semapv:ManualMappingCuration MONDO:0009582 Mietens syndrome skos:exactMatch OMIM:249600 mietens-weber syndrome semapv:ManualMappingCuration MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch OMIM:249620 ohdo syndrome semapv:ManualMappingCuration MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch OMIM:249630 mutchinick syndrome semapv:ManualMappingCuration MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:ManualMappingCuration MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:ManualMappingCuration MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch OMIM:249700 langer mesomelic dysplasia semapv:ManualMappingCuration MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch OMIM:249710 mesomelic limb shortening and bowing semapv:ManualMappingCuration MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:ManualMappingCuration MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:ManualMappingCuration MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian type semapv:ManualMappingCuration MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch OMIM:250230 metaphyseal chondrodysplasia, kaitila type semapv:ManualMappingCuration MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch OMIM:250250 cartilage-hair hypoplasia semapv:ManualMappingCuration MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch OMIM:250300 metaphyseal chondrodysplasia, pena type semapv:ManualMappingCuration MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch OMIM:250400 metaphyseal dysplasia, spahr type semapv:ManualMappingCuration MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:ManualMappingCuration MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:ManualMappingCuration MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch OMIM:250450 metaphyseal dysplasia, anetoderma, and optic atrophy semapv:ManualMappingCuration MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:ManualMappingCuration MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch OMIM:250500 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia semapv:ManualMappingCuration MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:ManualMappingCuration MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch OMIM:250700 methemoglobin reductase deficiency semapv:ManualMappingCuration MONDO:0009605 methemoglobinemia type 4 skos:exactMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:ManualMappingCuration MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:ManualMappingCuration MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:ManualMappingCuration MONDO:0009608 methionine malabsorption syndrome skos:exactMatch OMIM:250900 methionine malabsorption syndrome semapv:ManualMappingCuration MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg type semapv:ManualMappingCuration MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch OMIM:250950 3-methylglutaconic aciduria, type 1 semapv:ManualMappingCuration MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch OMIM:250951 3-methylglutaconic aciduria, type 4 semapv:ManualMappingCuration MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:ManualMappingCuration MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch OMIM:251100 methylmalonic aciduria, cbla type semapv:ManualMappingCuration MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch OMIM:251110 methylmalonic aciduria, cblb type semapv:ManualMappingCuration MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:ManualMappingCuration MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch OMIM:251190 microcephalic primordial dwarfism, toriello type semapv:ManualMappingCuration MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch OMIM:251220 microcephaly-cardiomyopathy semapv:ManualMappingCuration MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch OMIM:251230 microcephaly-micromelia syndrome semapv:ManualMappingCuration MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:ManualMappingCuration MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:ManualMappingCuration MONDO:0009622 Jawad syndrome skos:exactMatch OMIM:251255 jawad syndrome semapv:ManualMappingCuration MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:251260 nijmegen breakage syndrome semapv:ManualMappingCuration MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:ManualMappingCuration MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:ManualMappingCuration MONDO:0009628 obsolete microcolon skos:exactMatch OMIM:251400 microcolon semapv:ManualMappingCuration MONDO:0009629 Desbuquois dysplasia 1 skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:ManualMappingCuration MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch OMIM:251505 microphthalmia/coloboma 4 semapv:ManualMappingCuration MONDO:0009631 isolated microphthalmia 1 skos:exactMatch OMIM:251600 microphthalmia, isolated 1 semapv:ManualMappingCuration MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch OMIM:251700 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies semapv:ManualMappingCuration MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:ManualMappingCuration MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch OMIM:251800 microtia with meatal atresia and conductive deafness semapv:ManualMappingCuration MONDO:0009635 microvillus inclusion disease skos:exactMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:ManualMappingCuration MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:ManualMappingCuration MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch OMIM:251945 mitochondrial myopathy with a defect 1n mitochondrial-protein transport semapv:ManualMappingCuration MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch OMIM:252100 orofaciodigital syndrome 2 semapv:ManualMappingCuration MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch OMIM:252150 molybdenum cofactor deficiency, type a semapv:ManualMappingCuration MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch OMIM:252160 molybdenum cofactor deficiency, type B semapv:ManualMappingCuration MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch OMIM:252250 monocyte chemotactic disorder semapv:ManualMappingCuration MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 semapv:ManualMappingCuration MONDO:0009647 Morquio syndrome C skos:exactMatch OMIM:252300 morquio syndrome c semapv:ManualMappingCuration MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:ManualMappingCuration MONDO:0009649 moyamoya disease 1 skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:ManualMappingCuration MONDO:0009650 mucolipidosis type II skos:exactMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:ManualMappingCuration MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch OMIM:252605 mucolipidosis 3 gamma semapv:ManualMappingCuration MONDO:0009653 mucolipidosis type IV skos:exactMatch OMIM:252650 mucolipidosis 4 semapv:ManualMappingCuration MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:ManualMappingCuration MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch OMIM:252900 mucopolysaccharidosis, type 3a semapv:ManualMappingCuration MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch OMIM:252920 mucopolysaccharidosis, type 3b semapv:ManualMappingCuration MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch OMIM:252930 mucopolysaccharidosis, type 3c semapv:ManualMappingCuration MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch OMIM:252940 mucopolysaccharidosis, type 3d semapv:ManualMappingCuration MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch OMIM:253000 mucopolysaccharidosis, type 4a semapv:ManualMappingCuration MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch OMIM:253010 mucopolysaccharidosis, type 4b semapv:ManualMappingCuration MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch OMIM:253200 mucopolysaccharidosis, type 6 semapv:ManualMappingCuration MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch OMIM:253220 mucopolysaccharidosis, type 7 semapv:ManualMappingCuration MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch OMIM:253240 mucus inspissation of respiratory tract semapv:ManualMappingCuration MONDO:0009664 mulibrey nanism skos:exactMatch OMIM:253250 mulibrey nanism semapv:ManualMappingCuration MONDO:0009665 biotinidase deficiency skos:exactMatch OMIM:253260 biotinidase deficiency semapv:ManualMappingCuration MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:ManualMappingCuration MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 semapv:ManualMappingCuration MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch OMIM:253290 multiple pterygium syndrome, lethal type semapv:ManualMappingCuration MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch OMIM:253300 spinal muscular atrophy, type 1 semapv:ManualMappingCuration MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:ManualMappingCuration MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch OMIM:253320 chudley syndrome semapv:ManualMappingCuration MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch OMIM:253400 spinal muscular atrophy, type 3 semapv:ManualMappingCuration MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch OMIM:253550 spinal muscular atrophy, type 2 semapv:ManualMappingCuration MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch OMIM:253590 muscular dystrophy, adult-onset, with leukoencephalopathy semapv:ManualMappingCuration MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch OMIM:253800 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 semapv:ManualMappingCuration MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:ManualMappingCuration MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1a semapv:ManualMappingCuration MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch OMIM:254100 muscular dystrophy, congenital, with rapid progression semapv:ManualMappingCuration MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0009684 muscular hypertonia, lethal skos:exactMatch OMIM:254120 muscular hypertonia, lethal semapv:ManualMappingCuration MONDO:0009686 musk, inability to smell skos:exactMatch OMIM:254150 musk, inability to smell semapv:ManualMappingCuration MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors semapv:ManualMappingCuration MONDO:0009688 myasthenia gravis skos:exactMatch OMIM:254200 myasthenia gravis semapv:ManualMappingCuration MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:ManualMappingCuration MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:ManualMappingCuration MONDO:0009691 mycosis fungoides skos:exactMatch OMIM:254400 mycosis fungoides semapv:ManualMappingCuration MONDO:0009692 primary myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:ManualMappingCuration MONDO:0009693 plasma cell myeloma skos:exactMatch OMIM:254500 myeloma, multiple semapv:ManualMappingCuration MONDO:0009694 myeloperoxidase deficiency skos:exactMatch OMIM:254600 myeloperoxidase deficiency semapv:ManualMappingCuration MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch OMIM:254700 myeloproliferative disease, autosomal recessive semapv:ManualMappingCuration MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:ManualMappingCuration MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:ManualMappingCuration MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:ManualMappingCuration MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch OMIM:254950 myopathy, granulovacuolar lobular, with electrical myotonia semapv:ManualMappingCuration MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch OMIM:254960 myopathy due to malate-aspartate shuttle defect semapv:ManualMappingCuration MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:ManualMappingCuration MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:ManualMappingCuration MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:ManualMappingCuration MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:ManualMappingCuration MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch OMIM:255140 myopathy with giant abnormal mitochondria semapv:ManualMappingCuration MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:ManualMappingCuration MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch OMIM:255200 myopathy, centronuclear, 2 semapv:ManualMappingCuration MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:ManualMappingCuration MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch OMIM:255500 myopia 18, autosomal recessive semapv:ManualMappingCuration MONDO:0009714 myosclerosis skos:exactMatch OMIM:255600 myosclerosis, autosomal recessive semapv:ManualMappingCuration MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:ManualMappingCuration MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch OMIM:255710 myotonia with skeletal abnormalities and impaired intellectual development semapv:ManualMappingCuration MONDO:0009718 myxedema skos:exactMatch OMIM:255900 myxedema semapv:ManualMappingCuration MONDO:0009719 familial atrial myxoma skos:exactMatch OMIM:255960 myxoma, intracardiac semapv:ManualMappingCuration MONDO:0009720 Keipert syndrome skos:exactMatch OMIM:301026 keipert syndrome semapv:ManualMappingCuration MONDO:0009721 Nathalie syndrome skos:exactMatch OMIM:255990 nathalie syndrome semapv:ManualMappingCuration MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch OMIM:255995 congenital myopathy 13 semapv:ManualMappingCuration MONDO:0009723 Leigh syndrome skos:exactMatch OMIM:256000 leigh syndrome, nuclear semapv:ManualMappingCuration MONDO:0009724 nail-patella-like renal disease skos:exactMatch OMIM:256020 focal segmental glomerulosclerosis 10 semapv:ManualMappingCuration MONDO:0009725 nemaline myopathy 2 skos:exactMatch OMIM:256030 nemaline myopathy 2 semapv:ManualMappingCuration MONDO:0009727 atelosteogenesis type II skos:exactMatch OMIM:256050 atelosteogenesis, type 2 semapv:ManualMappingCuration MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:256100 nephronophthisis 1 semapv:ManualMappingCuration MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:ManualMappingCuration MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:ManualMappingCuration MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch OMIM:256300 nephrotic syndrome, type 1 semapv:ManualMappingCuration MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 nephrotic syndrome, type 4 semapv:ManualMappingCuration MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:ManualMappingCuration MONDO:0009735 Netherton syndrome skos:exactMatch OMIM:256500 netherton syndrome semapv:ManualMappingCuration MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:ManualMappingCuration MONDO:0009737 galactosialidosis skos:exactMatch OMIM:256540 galactosialidosis semapv:ManualMappingCuration MONDO:0009738 sialidosis type 2 skos:exactMatch OMIM:256150 nephrosialidosis semapv:ManualMappingCuration MONDO:0009738 sialidosis type 2 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:ManualMappingCuration MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:ManualMappingCuration MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:exactMatch OMIM:256700 neuroblastoma, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:ManualMappingCuration MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch OMIM:256720 neurologic disease, infantile multisystem, with osseous fragility semapv:ManualMappingCuration MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:ManualMappingCuration MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:ManualMappingCuration MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:ManualMappingCuration MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:ManualMappingCuration MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:ManualMappingCuration MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:ManualMappingCuration MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:ManualMappingCuration MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch OMIM:256860 neuropathy, hereditary sensory, atypical semapv:ManualMappingCuration MONDO:0009752 neuropathy, painful skos:exactMatch OMIM:256870 neuropathy, painful semapv:ManualMappingCuration MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies skos:exactMatch OMIM:257000 neurovisceral storage disease with curvilinear bodies semapv:ManualMappingCuration MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch OMIM:257100 neutropenia, lethal congenital, with eosinophilia semapv:ManualMappingCuration MONDO:0009755 neutrophil actin dysfunction skos:exactMatch OMIM:257150 neutrophil actin dysfunction semapv:ManualMappingCuration MONDO:0009756 Niemann-Pick disease type A skos:exactMatch OMIM:257200 niemann-pick disease, type a semapv:ManualMappingCuration MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch OMIM:257220 niemann-pick disease, type c1 semapv:ManualMappingCuration MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch OMIM:257270 night blindness, congenital stationary, type 1b semapv:ManualMappingCuration MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:ManualMappingCuration MONDO:0009760 Norman-Roberts syndrome skos:exactMatch OMIM:257320 lissencephaly 2 semapv:ManualMappingCuration MONDO:0009761 cystic hygroma skos:exactMatch OMIM:257350 nuchal bleb, familial semapv:ManualMappingCuration MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch OMIM:257400 nystagmus 8, congenital, autosomal recessive semapv:ManualMappingCuration MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch OMIM:257500 obesity-hypoventilation syndrome semapv:ManualMappingCuration MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch OMIM:257550 ocular motor apraxia semapv:ManualMappingCuration MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch OMIM:257600 ocular myopathy with curare sensitivity semapv:ManualMappingCuration MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch OMIM:257790 oculocerebral hypopigmentation syndrome of preus semapv:ManualMappingCuration MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:ManualMappingCuration MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:ManualMappingCuration MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch OMIM:257910 oculopalatocerebral syndrome semapv:ManualMappingCuration MONDO:0009770 3MC syndrome 1 skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:ManualMappingCuration MONDO:0009771 oculotrichodysplasia skos:exactMatch OMIM:257960 oculotrichodysplasia semapv:ManualMappingCuration MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch OMIM:257970 oculorenocerebellar syndrome semapv:ManualMappingCuration MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch OMIM:257980 odontoonychodermal dysplasia semapv:ManualMappingCuration MONDO:0009775 Oguchi disease-1 skos:exactMatch OMIM:258100 oguchi disease 1 semapv:ManualMappingCuration MONDO:0009776 spermatogenic failure 1 skos:exactMatch OMIM:258150 spermatogenic failure 1 semapv:ManualMappingCuration MONDO:0009777 Oliver syndrome skos:exactMatch OMIM:258200 Oliver syndrome semapv:ManualMappingCuration MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch OMIM:258300 cerebellar ataxia and albinism semapv:ManualMappingCuration MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch OMIM:258315 omodysplasia 1 semapv:ManualMappingCuration MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:ManualMappingCuration MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch OMIM:258360 onychotrichodysplasia and neutropenia semapv:ManualMappingCuration MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch OMIM:258400 ophthalmoplegia totalis with ptosis and miosis semapv:ManualMappingCuration MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch OMIM:258470 ophthalmoplegic neuromuscular disorder with abnormal mitochondria semapv:ManualMappingCuration MONDO:0009785 opsismodysplasia skos:exactMatch OMIM:258480 opsismodysplasia semapv:ManualMappingCuration MONDO:0009786 optic atrophy 6 skos:exactMatch OMIM:258500 optic atrophy 6 semapv:ManualMappingCuration MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, type 3 semapv:ManualMappingCuration MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:exactMatch OMIM:258650 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive semapv:ManualMappingCuration MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:exactMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:ManualMappingCuration MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch OMIM:258700 opticocochleodentate degeneration semapv:ManualMappingCuration MONDO:0009791 oral sensibility, disturbance of skos:exactMatch OMIM:258800 oral sensibility, disturbance of semapv:ManualMappingCuration MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:ManualMappingCuration MONDO:0009793 orofaciodigital syndrome III skos:exactMatch OMIM:258850 orofaciodigital syndrome 3 semapv:ManualMappingCuration MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch OMIM:258860 orofaciodigital syndrome 4 semapv:ManualMappingCuration MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch OMIM:258865 orofaciodigital syndrome 9 semapv:ManualMappingCuration MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:ManualMappingCuration MONDO:0009797 orotic aciduria skos:exactMatch OMIM:258900 orotic aciduria semapv:ManualMappingCuration MONDO:0009798 Primrose syndrome skos:exactMatch OMIM:259050 primrose syndrome semapv:ManualMappingCuration MONDO:0009800 Blount disease, adolescent skos:exactMatch OMIM:259200 blount disease, adolescent semapv:ManualMappingCuration MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch OMIM:259250 osteodysplasia, familial, anderson type semapv:ManualMappingCuration MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch OMIM:259270 osteodysplasty, precocious, of danks, mayne, and kozlowski semapv:ManualMappingCuration MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:ManualMappingCuration MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch OMIM:259420 osteogenesis imperfecta, type 3 semapv:ManualMappingCuration MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch OMIM:259440 osteogenesis imperfecta, type 9 semapv:ManualMappingCuration MONDO:0009806 Bruck syndrome 1 skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:ManualMappingCuration MONDO:0009808 osteoid osteoma skos:exactMatch OMIM:259550 osteoid osteoma semapv:ManualMappingCuration MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:ManualMappingCuration MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch OMIM:259610 osteolysis syndrome, recessive semapv:ManualMappingCuration MONDO:0009811 osteoma of middle ear skos:exactMatch OMIM:259650 osteoma of middle ear semapv:ManualMappingCuration MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch OMIM:259690 osteopenia and sparse hair semapv:ManualMappingCuration MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:ManualMappingCuration MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch OMIM:259775 raine syndrome semapv:ManualMappingCuration MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch OMIM:259780 otoonychoperoneal syndrome semapv:ManualMappingCuration MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch OMIM:259900 hyperoxaluria, primary, type 1 semapv:ManualMappingCuration MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch OMIM:260000 hyperoxaluria, primary, type 2 semapv:ManualMappingCuration MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch OMIM:260005 5-oxoprolinase deficiency semapv:ManualMappingCuration MONDO:0009826 PA polymorphism of alpha-2-globulin skos:exactMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:ManualMappingCuration MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive skos:exactMatch OMIM:260130 pachyonychia congenita, autosomal recessive semapv:ManualMappingCuration MONDO:0009828 palant cleft palate syndrome skos:exactMatch OMIM:260150 palant cleft palate syndrome semapv:ManualMappingCuration MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch OMIM:260200 pallidal degeneration, progressive, with retinitis pigmentosa semapv:ManualMappingCuration MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:ManualMappingCuration MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 subacute sclerosing panencephalitis semapv:ManualMappingCuration MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch OMIM:260480 pancreatitis, sclerosing cholangitis, and sicca complex semapv:ManualMappingCuration MONDO:0009837 choroid plexus papilloma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:ManualMappingCuration MONDO:0009838 Parana hard-skin syndrome skos:exactMatch OMIM:260530 parana hard-skin syndrome semapv:ManualMappingCuration MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch OMIM:260540 parkinson-dementia syndrome semapv:ManualMappingCuration MONDO:0009840 Partington-Anderson syndrome skos:exactMatch OMIM:260555 partington-anderson syndrome semapv:ManualMappingCuration MONDO:0009841 PEHO syndrome skos:exactMatch OMIM:260565 PEHO syndrome semapv:ManualMappingCuration MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch OMIM:260570 immunodeficiency 108 with autoinflammation semapv:ManualMappingCuration MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:ManualMappingCuration MONDO:0009844 pellagra-like syndrome skos:exactMatch OMIM:260650 pellagra-like syndrome semapv:ManualMappingCuration MONDO:0009845 pelviscapular dysplasia skos:exactMatch OMIM:260660 cousin syndrome semapv:ManualMappingCuration MONDO:0009846 pentosuria skos:exactMatch OMIM:260800 pentosuria semapv:ManualMappingCuration MONDO:0009847 pericardial effusion, chronic skos:exactMatch OMIM:260900 pericardial effusion, chronic semapv:ManualMappingCuration MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:ManualMappingCuration MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch OMIM:260920 hyper-igd syndrome semapv:ManualMappingCuration MONDO:0009850 periodontitis, chronic, adult skos:exactMatch OMIM:260950 periodontitis, chronic semapv:ManualMappingCuration MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch OMIM:260970 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain semapv:ManualMappingCuration MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:ManualMappingCuration MONDO:0009854 peroneus tertius muscle, absence of skos:exactMatch OMIM:261400 peroneus tertius muscle, absence of semapv:ManualMappingCuration MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch OMIM:261515 d-bifunctional protein deficiency semapv:ManualMappingCuration MONDO:0009856 Peters plus syndrome skos:exactMatch OMIM:261540 peters-plus syndrome semapv:ManualMappingCuration MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:ManualMappingCuration MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:ManualMappingCuration MONDO:0009859 PHAVER syndrome skos:exactMatch OMIM:261575 phaver syndrome semapv:ManualMappingCuration MONDO:0009860 phenformin 4-hydroxylation skos:exactMatch OMIM:261590 phenformin 4-hydroxylation semapv:ManualMappingCuration MONDO:0009861 phenylketonuria skos:exactMatch OMIM:261600 phenylketonuria semapv:ManualMappingCuration MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:ManualMappingCuration MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:ManualMappingCuration MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:ManualMappingCuration MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch OMIM:261670 glycogen storage disease 10 semapv:ManualMappingCuration MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:ManualMappingCuration MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:ManualMappingCuration MONDO:0009868 glycogen storage disease IXb skos:exactMatch OMIM:261750 glycogen storage disease ixb semapv:ManualMappingCuration MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch OMIM:261800 pierre robin syndrome semapv:ManualMappingCuration MONDO:0009870 pili torti skos:exactMatch OMIM:261900 pili torti, early-onset semapv:ManualMappingCuration MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:ManualMappingCuration MONDO:0009872 Bjornstad syndrome skos:exactMatch OMIM:262000 bjornstad syndrome semapv:ManualMappingCuration MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:ManualMappingCuration MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:ManualMappingCuration MONDO:0009875 achromatopsia 3 skos:exactMatch OMIM:262300 achromatopsia 3 semapv:ManualMappingCuration MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch OMIM:262400 isolated growth hormone deficiency, type 1a semapv:ManualMappingCuration MONDO:0009877 Laron syndrome skos:exactMatch OMIM:262500 laron syndrome semapv:ManualMappingCuration MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:ManualMappingCuration MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch OMIM:262650 kowarski syndrome semapv:ManualMappingCuration MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:ManualMappingCuration MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch OMIM:262710 pituitary dwarfism with large sella turcica semapv:ManualMappingCuration MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch OMIM:262800 plasma clot retraction factor, deficiency of semapv:ManualMappingCuration MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch OMIM:262875 platelet prostacyclin receptor defect semapv:ManualMappingCuration MONDO:0009885 Scott syndrome skos:exactMatch OMIM:262890 scott syndrome semapv:ManualMappingCuration MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch OMIM:262900 pleoconial myopathy with salt craving semapv:ManualMappingCuration MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:ManualMappingCuration MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch OMIM:263100 polycystic kidney, cataract, and congenital blindness semapv:ManualMappingCuration MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:ManualMappingCuration MONDO:0009891 acquired polycythemia vera skos:exactMatch OMIM:263300 polycythemia vera semapv:ManualMappingCuration MONDO:0009892 Chuvash polycythemia skos:exactMatch OMIM:263400 erythrocytosis, familial, 2 semapv:ManualMappingCuration MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch OMIM:263450 polydactyly, postaxial, type a5 semapv:ManualMappingCuration MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly semapv:ManualMappingCuration MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:ManualMappingCuration MONDO:0009896 polymyoclonus, infantile skos:exactMatch OMIM:263550 polymyoclonus, infantile semapv:ManualMappingCuration MONDO:0009897 adult polyglucosan body disease skos:exactMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:ManualMappingCuration MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch OMIM:263600 polysaccharide, storage of unusual semapv:ManualMappingCuration MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch OMIM:263610 polyhydramnios, chronic idiopathic semapv:ManualMappingCuration MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:ManualMappingCuration MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:ManualMappingCuration MONDO:0009902 cutaneous porphyria skos:exactMatch OMIM:263700 porphyria, congenital erythropoietic semapv:ManualMappingCuration MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch OMIM:263750 miller syndrome semapv:ManualMappingCuration MONDO:0009904 Gitelman syndrome skos:exactMatch OMIM:263800 gitelman syndrome semapv:ManualMappingCuration MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:ManualMappingCuration MONDO:0009906 prenatal bowing skos:exactMatch OMIM:264050 prenatal bowing semapv:ManualMappingCuration MONDO:0009907 Prepapillary vascular loops skos:exactMatch OMIM:264060 prepapillary vascular loops semapv:ManualMappingCuration MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:ManualMappingCuration MONDO:0009909 progesterone resistance skos:exactMatch OMIM:264080 progesterone resistance semapv:ManualMappingCuration MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:ManualMappingCuration MONDO:0009911 prolactin deficiency, isolated skos:exactMatch OMIM:264110 prolactin deficiency, isolated semapv:ManualMappingCuration MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:ManualMappingCuration MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch OMIM:264140 prune belly syndrome with pulmonic stenosis, impaired intellectual development, and deafness semapv:ManualMappingCuration MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch OMIM:264180 pseudodiastrophic dysplasia semapv:ManualMappingCuration MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:ManualMappingCuration MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch OMIM:264350 pseudohypoaldosteronism, type ib1, autosomal recessive semapv:ManualMappingCuration MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch OMIM:264420 fundus dystrophy, pseudoinflammatory, recessive form semapv:ManualMappingCuration MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:ManualMappingCuration MONDO:0009920 Acrootoocular syndrome skos:exactMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:ManualMappingCuration MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:ManualMappingCuration MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch OMIM:264500 pseudouridinuria and mental defect semapv:ManualMappingCuration MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:ManualMappingCuration MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:ManualMappingCuration MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:ManualMappingCuration MONDO:0009927 3MC syndrome 2 skos:exactMatch OMIM:265050 3mc syndrome 2 semapv:ManualMappingCuration MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch OMIM:265100 pulmonary alveolar microlithiasis semapv:ManualMappingCuration MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:ManualMappingCuration MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch OMIM:265140 pulmonary arteriovenous fistulas semapv:ManualMappingCuration MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:ManualMappingCuration MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch OMIM:265200 pulmonary bullae causing pneumothorax semapv:ManualMappingCuration MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:ManualMappingCuration MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:ManualMappingCuration MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:ManualMappingCuration MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch OMIM:265430 pulmonary hypoplasia, primary semapv:ManualMappingCuration MONDO:0009938 pulmonic stenosis skos:exactMatch OMIM:265500 pulmonic stenosis semapv:ManualMappingCuration MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch OMIM:265600 pulmonic stenosis and congenital nephrosis semapv:ManualMappingCuration MONDO:0009940 pycnodysostosis skos:exactMatch OMIM:265800 pycnodysostosis semapv:ManualMappingCuration MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy semapv:ManualMappingCuration MONDO:0009942 pyknoachondrogenesis skos:exactMatch OMIM:265880 pyknoachondrogenesis semapv:ManualMappingCuration MONDO:0009943 Pyle disease skos:exactMatch OMIM:265900 pyle disease semapv:ManualMappingCuration MONDO:0009944 pyloric atresia skos:exactMatch OMIM:265950 pyloric atresia semapv:ManualMappingCuration MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch OMIM:266120 anemia, congenital, nonspherocytic hemolytic, 8 semapv:ManualMappingCuration MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:ManualMappingCuration MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:ManualMappingCuration MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch OMIM:266150 pyruvate carboxylase deficiency semapv:ManualMappingCuration MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 semapv:ManualMappingCuration MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch OMIM:266250 radiculoneuropathy, fatal neonatal semapv:ManualMappingCuration MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:ManualMappingCuration MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch OMIM:266265 congenital disorder of glycosylation, type iic semapv:ManualMappingCuration MONDO:0009954 Ramon syndrome skos:exactMatch OMIM:266270 ramon syndrome semapv:ManualMappingCuration MONDO:0009955 rapadilino syndrome skos:exactMatch OMIM:266280 rapadilino syndrome semapv:ManualMappingCuration MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch OMIM:266350 red skin pigment anomaly of new guinea semapv:ManualMappingCuration MONDO:0009957 Reese retinal dysplasia skos:exactMatch OMIM:266400 reese retinal dysplasia semapv:ManualMappingCuration MONDO:0009958 adult Refsum disease skos:exactMatch OMIM:266500 refsum disease, classic semapv:ManualMappingCuration MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:266510 peroxisome biogenesis disorder 3b semapv:ManualMappingCuration MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:ManualMappingCuration MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch OMIM:266810 renal and mullerian duct hypoplasia semapv:ManualMappingCuration MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:ManualMappingCuration MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:ManualMappingCuration MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:ManualMappingCuration MONDO:0009965 Perlman syndrome skos:exactMatch OMIM:267000 perlman syndrome semapv:ManualMappingCuration MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch OMIM:267010 meckel syndrome, type 7 semapv:ManualMappingCuration MONDO:0009967 renal tubular acidosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:ManualMappingCuration MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:ManualMappingCuration MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:ManualMappingCuration MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:ManualMappingCuration MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:ManualMappingCuration MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch OMIM:267480 respiratory underresponsiveness to hypoxia and hypercapnia semapv:ManualMappingCuration MONDO:0009973 reticular dysgenesis skos:exactMatch OMIM:267500 reticular dysgenesis semapv:ManualMappingCuration MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:ManualMappingCuration MONDO:0009975 reticulum cell sarcoma skos:exactMatch OMIM:267730 reticulum cell sarcoma semapv:ManualMappingCuration MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch OMIM:267740 retinal degeneration and epilepsy semapv:ManualMappingCuration MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:ManualMappingCuration MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch OMIM:179840 reticular dystrophy of retinal pigment epithelium semapv:ManualMappingCuration MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch OMIM:267900 retinal telangiectasia and hypogammaglobulinemia semapv:ManualMappingCuration MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch OMIM:268010 retinitis pigmentosa inversa with deafness semapv:ManualMappingCuration MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism semapv:ManualMappingCuration MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:ManualMappingCuration MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:ManualMappingCuration MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:ManualMappingCuration MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:ManualMappingCuration MONDO:0009988 retinoschisis of fovea skos:exactMatch OMIM:268080 retinoschisis of fovea semapv:ManualMappingCuration MONDO:0009990 Revesz syndrome skos:exactMatch OMIM:268130 revesz syndrome semapv:ManualMappingCuration MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:ManualMappingCuration MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:ManualMappingCuration MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch OMIM:268220 rhabdomyosarcoma 2 semapv:ManualMappingCuration MONDO:0009995 obsolete rheumatic fever-related antigen skos:exactMatch OMIM:268240 rheumatic fever-related antigen semapv:ManualMappingCuration MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch OMIM:268250 rhizomelic syndrome semapv:ManualMappingCuration MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:ManualMappingCuration MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction semapv:ManualMappingCuration MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch OMIM:268320 rodrigues blindness semapv:ManualMappingCuration MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch OMIM:268500 rowley-rosenberg syndrome semapv:ManualMappingCuration MONDO:0010004 EEC syndrome skos:exactMatch OMIM:268650 rudiger syndrome semapv:ManualMappingCuration MONDO:0010005 saccharopinuria skos:exactMatch OMIM:268700 saccharopinuria semapv:ManualMappingCuration MONDO:0010006 Sandhoff disease skos:exactMatch OMIM:268800 sandhoff disease semapv:ManualMappingCuration MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:ManualMappingCuration MONDO:0010008 sarcosinemia skos:exactMatch OMIM:268900 sarcosinemia semapv:ManualMappingCuration MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:ManualMappingCuration MONDO:0010011 schizencephaly skos:exactMatch OMIM:269160 schizencephaly semapv:ManualMappingCuration MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch OMIM:269200 autoimmune polyendocrine syndrome, type 2 semapv:ManualMappingCuration MONDO:0010013 schneckenbecken dysplasia skos:exactMatch OMIM:269250 schneckenbecken dysplasia semapv:ManualMappingCuration MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:ManualMappingCuration MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch OMIM:269400 anterior segment dysgenesis 7 semapv:ManualMappingCuration MONDO:0010016 sclerosteosis 1 skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:ManualMappingCuration MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch OMIM:269600 sea-blue histiocyte disease semapv:ManualMappingCuration MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch OMIM:269630 second metatarsal-metacarpal syndrome semapv:ManualMappingCuration MONDO:0010019 secretory component deficiency skos:exactMatch OMIM:269650 secretory component deficiency semapv:ManualMappingCuration MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch OMIM:269700 lipodystrophy, congenital generalized, type 2 semapv:ManualMappingCuration MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:ManualMappingCuration MONDO:0010022 senile plaque formation skos:exactMatch OMIM:269800 senile plaque formation semapv:ManualMappingCuration MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch OMIM:269840 immunodeficiency 48 semapv:ManualMappingCuration MONDO:0010024 Beemer-Langer syndrome skos:exactMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:ManualMappingCuration MONDO:0010025 short stature-obesity syndrome skos:exactMatch OMIM:269870 short stature-obesity syndrome semapv:ManualMappingCuration MONDO:0010026 SHORT syndrome skos:exactMatch OMIM:269880 short syndrome semapv:ManualMappingCuration MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch OMIM:269920 infantile sialic acid storage disease semapv:ManualMappingCuration MONDO:0010028 sialuria skos:exactMatch OMIM:269921 sialuria semapv:ManualMappingCuration MONDO:0010030 Sjogren syndrome skos:exactMatch OMIM:270150 sjogren syndrome semapv:ManualMappingCuration MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch OMIM:270200 sjogren-larsson syndrome semapv:ManualMappingCuration MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:ManualMappingCuration MONDO:0010034 obsolete anosmia for butyl mercaptan skos:exactMatch OMIM:270350 anosmia for butyl mercaptan semapv:ManualMappingCuration MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch OMIM:270400 smith-lemli-opitz syndrome semapv:ManualMappingCuration MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:ManualMappingCuration MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:exactMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:ManualMappingCuration MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:ManualMappingCuration MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch OMIM:270460 sonoda syndrome semapv:ManualMappingCuration MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:exactMatch OMIM:270500 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and impaired intellectual development semapv:ManualMappingCuration MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch OMIM:270550 spastic ataxia, charlevoix-saguenay type semapv:ManualMappingCuration MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch OMIM:270600 spastic diplegia and impaired intellectual development semapv:ManualMappingCuration MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:ManualMappingCuration MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:ManualMappingCuration MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:ManualMappingCuration MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:ManualMappingCuration MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:ManualMappingCuration MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch OMIM:270805 spastic paraplegia with myoclonic epilepsy semapv:ManualMappingCuration MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch OMIM:270850 spastic paresis, glaucoma, and impaired intellectual development semapv:ManualMappingCuration MONDO:0010050 obsolete spastic pseudosclerosis skos:exactMatch OMIM:270900 spastic pseudosclerosis semapv:ManualMappingCuration MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development semapv:ManualMappingCuration MONDO:0010052 spermatogenic failure 4 skos:exactMatch OMIM:270960 spermatogenic failure 4 semapv:ManualMappingCuration MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch OMIM:270970 spherocytosis, type 3 semapv:ManualMappingCuration MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch OMIM:271109 spinal muscular atrophy with impaired intellectual development semapv:ManualMappingCuration MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch OMIM:271110 spinal muscular atrophy with microcephaly and impaired intellectual development semapv:ManualMappingCuration MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch OMIM:271150 spinal muscular atrophy, type 4 semapv:ManualMappingCuration MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch OMIM:271200 spinal muscular atrophy, ryukyuan type semapv:ManualMappingCuration MONDO:0010058 scapuloperoneal spinal muscular atrophy, autosomal recessive skos:exactMatch OMIM:271220 spinal muscular atrophy, scapuloperoneal semapv:ManualMappingCuration MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:ManualMappingCuration MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:ManualMappingCuration MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:ManualMappingCuration MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:ManualMappingCuration MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:ManualMappingCuration MONDO:0010066 familial isolated congenital asplenia skos:exactMatch OMIM:271400 asplenia, isolated congenital semapv:ManualMappingCuration MONDO:0010067 splenoportal vascular anomalies skos:exactMatch OMIM:271500 splenoportal vascular anomalies semapv:ManualMappingCuration MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type semapv:ManualMappingCuration MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:ManualMappingCuration MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch OMIM:271530 brachyolmia type 1, hobaek type semapv:ManualMappingCuration MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch OMIM:271600 spondyloepiphyseal dysplasia tarda, autosomal recessive semapv:ManualMappingCuration MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with impaired intellectual development semapv:ManualMappingCuration MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch OMIM:271630 brachyolmia type 1, toledo type semapv:ManualMappingCuration MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures semapv:ManualMappingCuration MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch OMIM:271650 spondyloepimetaphyseal dysplasia, irapa type semapv:ManualMappingCuration MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand type semapv:ManualMappingCuration MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch OMIM:271700 spondyloperipheral dysplasia semapv:ManualMappingCuration MONDO:0010079 Canavan disease skos:exactMatch OMIM:271900 canavan disease semapv:ManualMappingCuration MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:ManualMappingCuration MONDO:0010081 subaortic stenosis, membranous skos:exactMatch OMIM:271950 subaortic stenosis, membranous semapv:ManualMappingCuration MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:ManualMappingCuration MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch OMIM:272000 sucrosuria, hiatus hernia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0010085 Schilder disease skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:ManualMappingCuration MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch OMIM:272120 sudden infant death syndrome semapv:ManualMappingCuration MONDO:0010087 Sugarman brachydactyly skos:exactMatch OMIM:272150 sugarman brachydactyly semapv:ManualMappingCuration MONDO:0010088 mucosulfatidosis skos:exactMatch OMIM:272200 multiple sulfatase deficiency semapv:ManualMappingCuration MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch OMIM:272300 sulfite oxidase deficiency, isolated semapv:ManualMappingCuration MONDO:0010090 Summitt syndrome skos:exactMatch OMIM:272350 summitt syndrome semapv:ManualMappingCuration MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:ManualMappingCuration MONDO:0010092 Filippi syndrome skos:exactMatch OMIM:272440 filippi syndrome semapv:ManualMappingCuration MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch OMIM:272450 syndesmodysplasic dwarfism semapv:ManualMappingCuration MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:ManualMappingCuration MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:ManualMappingCuration MONDO:0010096 tardive dyskinesia skos:exactMatch OMIM:272620 tardive dyskinesia semapv:ManualMappingCuration MONDO:0010097 Tatsumi factor deficiency skos:exactMatch OMIM:272650 tatsumi factor deficiency semapv:ManualMappingCuration MONDO:0010098 taurodontism skos:exactMatch OMIM:272700 taurodontism semapv:ManualMappingCuration MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:ManualMappingCuration MONDO:0010100 Tay-Sachs disease skos:exactMatch OMIM:272800 tay-sachs disease semapv:ManualMappingCuration MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch OMIM:272950 teebi-shaltout syndrome semapv:ManualMappingCuration MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:ManualMappingCuration MONDO:0010103 teeth, fused skos:exactMatch OMIM:273000 teeth, fused semapv:ManualMappingCuration MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:ManualMappingCuration MONDO:0010105 teratoma, pineal skos:exactMatch OMIM:273120 teratoma, pineal semapv:ManualMappingCuration MONDO:0010106 testes, rudimentary skos:exactMatch OMIM:273150 testes, rudimentary semapv:ManualMappingCuration MONDO:0010108 testicular germ cell tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:ManualMappingCuration MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch OMIM:273390 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities semapv:ManualMappingCuration MONDO:0010111 odontotrichomelic syndrome skos:exactMatch OMIM:273400 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities semapv:ManualMappingCuration MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch OMIM:273490 thalamic degeneration, symmetric infantile semapv:ManualMappingCuration MONDO:0010113 obsolete thalidomide susceptibility skos:exactMatch OMIM:273600 thalidomide susceptibility semapv:ManualMappingCuration MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch OMIM:273680 thanatophoric dysplasia, glasgow variant semapv:ManualMappingCuration MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch OMIM:273730 thoracic dysplasia-hydrocephalus syndrome semapv:ManualMappingCuration MONDO:0010116 thoracomelic dysplasia skos:exactMatch OMIM:273740 thoracomelic dysplasia semapv:ManualMappingCuration MONDO:0010117 3M syndrome 1 skos:exactMatch OMIM:273750 three m syndrome 1 semapv:ManualMappingCuration MONDO:0010118 inherited threoninemia skos:exactMatch OMIM:273770 threoninemia semapv:ManualMappingCuration MONDO:0010120 thrombocytopenia 3 skos:exactMatch OMIM:273900 thrombocytopenia 3 semapv:ManualMappingCuration MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:ManualMappingCuration MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:ManualMappingCuration MONDO:0010124 thumb, distal hyperextensibility of skos:exactMatch OMIM:274200 thumb, distal hyperextensibility of semapv:ManualMappingCuration MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:ManualMappingCuration MONDO:0010126 thymic aplasia with fetal death skos:exactMatch OMIM:274210 thymic aplasia with fetal death semapv:ManualMappingCuration MONDO:0010127 thymoma, familial skos:exactMatch OMIM:274230 thymoma, familial semapv:ManualMappingCuration MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch OMIM:274240 thyrocerebroretinal syndrome semapv:ManualMappingCuration MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch OMIM:274265 thymic-renal-anal-lung dysplasia semapv:ManualMappingCuration MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:ManualMappingCuration MONDO:0010134 Pendred syndrome skos:exactMatch OMIM:274600 pendred syndrome semapv:ManualMappingCuration MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch OMIM:274700 thyroid dyshormonogenesis 3 semapv:ManualMappingCuration MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:ManualMappingCuration MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch OMIM:274900 thyroid dyshormonogenesis 5 semapv:ManualMappingCuration MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:ManualMappingCuration MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:ManualMappingCuration MONDO:0010141 tiglic acidemia skos:exactMatch OMIM:275190 tiglic acidemia semapv:ManualMappingCuration MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:ManualMappingCuration MONDO:0010144 tibial hemimelia skos:exactMatch OMIM:275220 tibial hemimelia semapv:ManualMappingCuration MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch OMIM:275230 tibia, absence of, with congenital deafness semapv:ManualMappingCuration MONDO:0010146 Kerion celsi skos:exactMatch OMIM:275240 tinea imbricata, susceptibility to semapv:ManualMappingCuration MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch OMIM:275250 tongue, pigmented fungiform papillae of semapv:ManualMappingCuration MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch OMIM:275300 tracheobronchomegaly semapv:ManualMappingCuration MONDO:0010149 transcobalamin II deficiency skos:exactMatch OMIM:275350 transcobalamin 2 deficiency semapv:ManualMappingCuration MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:ManualMappingCuration MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch OMIM:275370 tricarboxylic acid cycle, defect of semapv:ManualMappingCuration MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch OMIM:275400 oliver-mcfarlane syndrome semapv:ManualMappingCuration MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:ManualMappingCuration MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:ManualMappingCuration MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch OMIM:275630 chanarin-dorfman syndrome semapv:ManualMappingCuration MONDO:0010156 Troyer syndrome skos:exactMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:ManualMappingCuration MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch OMIM:276100 tryptophanuria with dwarfism semapv:ManualMappingCuration MONDO:0010158 T-substance anomaly skos:exactMatch OMIM:276200 t-substance anomaly semapv:ManualMappingCuration MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:ManualMappingCuration MONDO:0010160 tyrosinemia type II skos:exactMatch OMIM:276600 tyrosinemia, type 2 semapv:ManualMappingCuration MONDO:0010161 tyrosinemia type I skos:exactMatch OMIM:276700 tyrosinemia, type 1 semapv:ManualMappingCuration MONDO:0010162 tyrosinemia type III skos:exactMatch OMIM:276710 tyrosinemia, type 3 semapv:ManualMappingCuration MONDO:0010163 Tyrosinosis skos:exactMatch OMIM:276800 tyrosinosis semapv:ManualMappingCuration MONDO:0010164 phocomelia, Schinzel type skos:exactMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:ManualMappingCuration MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch OMIM:276821 ulnar hypoplasia with impaired intellectual development semapv:ManualMappingCuration MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch OMIM:276822 ulnar agenesis and endocardial fibroelastosis semapv:ManualMappingCuration MONDO:0010167 urocanic aciduria skos:exactMatch OMIM:276880 urocanase deficiency semapv:ManualMappingCuration MONDO:0010169 Usher syndrome type 2A skos:exactMatch OMIM:276901 usher syndrome, type 2a semapv:ManualMappingCuration MONDO:0010170 Usher syndrome type 3A skos:exactMatch OMIM:276902 usher syndrome, type 3a semapv:ManualMappingCuration MONDO:0010171 Usher syndrome type 1C skos:exactMatch OMIM:276904 usher syndrome, type 1c semapv:ManualMappingCuration MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch OMIM:276950 vacterl association with hydrocephalus semapv:ManualMappingCuration MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:ManualMappingCuration MONDO:0010174 Valinemia skos:exactMatch OMIM:277100 valinemia semapv:ManualMappingCuration MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch OMIM:277150 van bogaert-hozay syndrome semapv:ManualMappingCuration MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch OMIM:277170 orofaciodigital syndrome 6 semapv:ManualMappingCuration MONDO:0010177 vascular hyalinosis skos:exactMatch OMIM:277175 vascular hyalinosis semapv:ManualMappingCuration MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch OMIM:277180 vas deferens, congenital bilateral aplasia of semapv:ManualMappingCuration MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:ManualMappingCuration MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:ManualMappingCuration MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch OMIM:277350 hypercarotenemia and vitamin a deficiency, autosomal recessive semapv:ManualMappingCuration MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblF type semapv:ManualMappingCuration MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc type semapv:ManualMappingCuration MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld type semapv:ManualMappingCuration MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch OMIM:277440 vitamin d-dependent rickets, type 2a semapv:ManualMappingCuration MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:ManualMappingCuration MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch OMIM:277460 ataxia with vitamin e deficiency semapv:ManualMappingCuration MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch OMIM:277465 vitiligo, progressive, with impaired intellectual development and urethral duplication semapv:ManualMappingCuration MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch OMIM:277470 pontocerebellar hypoplasia, type 2a semapv:ManualMappingCuration MONDO:0010191 von Willebrand disease 3 skos:exactMatch OMIM:277480 von willebrand disease, type 3 semapv:ManualMappingCuration MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch OMIM:277580 waardenburg syndrome, type 4a semapv:ManualMappingCuration MONDO:0010193 Weaver syndrome skos:exactMatch OMIM:277590 weaver syndrome semapv:ManualMappingCuration MONDO:0010194 Weill-Marchesani syndrome 1 skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:ManualMappingCuration MONDO:0010196 Werner syndrome skos:exactMatch OMIM:277700 werner syndrome semapv:ManualMappingCuration MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch OMIM:277720 whistling face syndrome, recessive form semapv:ManualMappingCuration MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch OMIM:277730 wernicke-korsakoff syndrome semapv:ManualMappingCuration MONDO:0010199 white forelock with malformations skos:exactMatch OMIM:277740 white forelock with malformations semapv:ManualMappingCuration MONDO:0010200 Wilson disease skos:exactMatch OMIM:277900 wilson disease semapv:ManualMappingCuration MONDO:0010201 Winchester syndrome skos:exactMatch OMIM:277950 winchester syndrome semapv:ManualMappingCuration MONDO:0010203 intellectual disability, Wolff type skos:exactMatch OMIM:277990 wolff syndrome semapv:ManualMappingCuration MONDO:0010206 hypotrichosis 8 skos:exactMatch OMIM:278150 hypotrichosis 8 semapv:ManualMappingCuration MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:ManualMappingCuration MONDO:0010208 wrinkly skin syndrome skos:exactMatch OMIM:278250 wrinkly skin syndrome semapv:ManualMappingCuration MONDO:0010209 xanthinuria type I skos:exactMatch OMIM:278300 xanthinuria, type 1 semapv:ManualMappingCuration MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:ManualMappingCuration MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:ManualMappingCuration MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:ManualMappingCuration MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:ManualMappingCuration MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch OMIM:278750 xeroderma pigmentosum, variant type semapv:ManualMappingCuration MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:ManualMappingCuration MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:ManualMappingCuration MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 lange sanctis-cacchione syndrome semapv:ManualMappingCuration MONDO:0010218 46,XX sex reversal 2 skos:exactMatch OMIM:278850 46,xx sex reversal 2 semapv:ManualMappingCuration MONDO:0010219 xylosidase deficiency skos:exactMatch OMIM:278900 xylosidase deficiency semapv:ManualMappingCuration MONDO:0010220 Young syndrome skos:exactMatch OMIM:279000 young syndrome semapv:ManualMappingCuration MONDO:0010221 CHIME syndrome skos:exactMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:ManualMappingCuration MONDO:0010222 X-linked Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz GBBB syndrome semapv:ManualMappingCuration MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency semapv:ManualMappingCuration MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:ManualMappingCuration MONDO:0010225 Dent disease type 1 skos:exactMatch OMIM:300009 dent disease 1 semapv:ManualMappingCuration MONDO:0010226 46,XY sex reversal 2 skos:exactMatch OMIM:300018 46,xy sex reversal 2 semapv:ManualMappingCuration MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch OMIM:300029 retinitis pigmentosa 3 semapv:ManualMappingCuration MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch OMIM:300030 deafness, X-linked 3 semapv:ManualMappingCuration MONDO:0010229 alopecia, congenital skos:exactMatch OMIM:300042 alopecia, congenital semapv:ManualMappingCuration MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:ManualMappingCuration MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:ManualMappingCuration MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:ManualMappingCuration MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:ManualMappingCuration MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:ManualMappingCuration MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:ManualMappingCuration MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch OMIM:300064 hyde-forster syndrome semapv:ManualMappingCuration MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch OMIM:300066 deafness, X-linked 4 semapv:ManualMappingCuration MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:ManualMappingCuration MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch OMIM:300071 night blindness, congenital stationary, type 2a semapv:ManualMappingCuration MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch OMIM:300073 fetal akinesia syndrome, X-linked semapv:ManualMappingCuration MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch OMIM:300076 immunoneurologic disorder, X-linked semapv:ManualMappingCuration MONDO:0010244 CGF1 skos:exactMatch OMIM:300082 cognitive function 1, social semapv:ManualMappingCuration MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch OMIM:300085 cone-rod dystrophy, x-linked, 2 semapv:ManualMappingCuration MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:ManualMappingCuration MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:ManualMappingCuration MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch OMIM:300114 raynaud-claes syndrome semapv:ManualMappingCuration MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:ManualMappingCuration MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:exactMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:ManualMappingCuration MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:exactMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0010254 obsolete hematopoietic stem cell kinetics, control of skos:exactMatch OMIM:300129 hematopoietic stem cell kinetics, control of semapv:ManualMappingCuration MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:exactMatch OMIM:300136 type 1 diabetes mellitus, x-linked, susceptibility to semapv:ManualMappingCuration MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:ManualMappingCuration MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:exactMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:ManualMappingCuration MONDO:0010258 MEHMO syndrome skos:exactMatch OMIM:300148 MEHMO syndrome semapv:ManualMappingCuration MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch OMIM:300155 retinitis pigmentosa 24 semapv:ManualMappingCuration MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:ManualMappingCuration MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch OMIM:300166 microphthalmia, syndromic 2 semapv:ManualMappingCuration MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch OMIM:300184 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses semapv:ManualMappingCuration MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch OMIM:300194 amme complex semapv:ManualMappingCuration MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch OMIM:300200 adrenal hypoplasia, congenital semapv:ManualMappingCuration MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch OMIM:300209 simpson-golabi-behmel syndrome, type 2 semapv:ManualMappingCuration MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:ManualMappingCuration MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch OMIM:300211 episodic muscle weakness, X-linked semapv:ManualMappingCuration MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:ManualMappingCuration MONDO:0010269 Coats disease skos:exactMatch OMIM:300216 coats disease semapv:ManualMappingCuration MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:ManualMappingCuration MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:ManualMappingCuration MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:ManualMappingCuration MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch OMIM:300228 testicular germ cell tumor 1 semapv:ManualMappingCuration MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:ManualMappingCuration MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch OMIM:300233 radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male semapv:ManualMappingCuration MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi type semapv:ManualMappingCuration MONDO:0010278 Christianson syndrome skos:exactMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson type semapv:ManualMappingCuration MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch OMIM:300244 terminal osseous dysplasia semapv:ManualMappingCuration MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:ManualMappingCuration MONDO:0010281 Danon disease skos:exactMatch OMIM:300257 danon disease semapv:ManualMappingCuration MONDO:0010282 Mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked semapv:ManualMappingCuration MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs type semapv:ManualMappingCuration MONDO:0010284 Armfield syndrome skos:exactMatch OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield type semapv:ManualMappingCuration MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi type semapv:ManualMappingCuration MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius type semapv:ManualMappingCuration MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:ManualMappingCuration MONDO:0010288 adrenomyodystrophy skos:exactMatch OMIM:300270 adrenomyodystrophy semapv:ManualMappingCuration MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:ManualMappingCuration MONDO:0010290 goiter, multinodular 2 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:ManualMappingCuration MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:ManualMappingCuration MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:ManualMappingCuration MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:ManualMappingCuration MONDO:0010296 immunodeficiency 61 skos:exactMatch OMIM:300310 immunodeficiency 61 semapv:ManualMappingCuration MONDO:0010297 FG syndrome 2 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:ManualMappingCuration MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:ManualMappingCuration MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch OMIM:300323 hyperuricemia, hprt-related semapv:ManualMappingCuration MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:ManualMappingCuration MONDO:0010302 Ito hypomelanosis skos:exactMatch OMIM:300337 hypomelanosis of ITO semapv:ManualMappingCuration MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:ManualMappingCuration MONDO:0010305 creatine transporter deficiency skos:exactMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:ManualMappingCuration MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas type semapv:ManualMappingCuration MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:ManualMappingCuration MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:ManualMappingCuration MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch OMIM:300372 intellectual developmental disorder, X-linked 42 semapv:ManualMappingCuration MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch OMIM:300373 osteopathia striata with cranial sclerosis semapv:ManualMappingCuration MONDO:0010311 Becker muscular dystrophy skos:exactMatch OMIM:300376 muscular dystrophy, becker type semapv:ManualMappingCuration MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch OMIM:300378 radial ray deficiency, X-linked semapv:ManualMappingCuration MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:ManualMappingCuration MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:exactMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:ManualMappingCuration MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:ManualMappingCuration MONDO:0010316 FG syndrome 3 skos:exactMatch OMIM:300406 fg syndrome 3 semapv:ManualMappingCuration MONDO:0010317 intellectual disability, X-linked, with or without seizures, ARX-related skos:exactMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:ManualMappingCuration MONDO:0010318 FG syndrome 4 skos:exactMatch OMIM:300422 fg syndrome 4 semapv:ManualMappingCuration MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera type semapv:ManualMappingCuration MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch OMIM:300424 retinitis pigmentosa 23 semapv:ManualMappingCuration MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:ManualMappingCuration MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:ManualMappingCuration MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch OMIM:300431 atkin-flaitz syndrome semapv:ManualMappingCuration MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:ManualMappingCuration MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos type semapv:ManualMappingCuration MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:ManualMappingCuration MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch OMIM:300438 hsd10 mitochondrial disease semapv:ManualMappingCuration MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:ManualMappingCuration MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:ManualMappingCuration MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:ManualMappingCuration MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:exactMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies semapv:ManualMappingCuration MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch OMIM:300472 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia semapv:ManualMappingCuration MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:ManualMappingCuration MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:ManualMappingCuration MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:ManualMappingCuration MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart type semapv:ManualMappingCuration MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch OMIM:300489 neuronopathy, distal hereditary motor, X-linked semapv:ManualMappingCuration MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:ManualMappingCuration MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch OMIM:300495 autism, susceptibility to, X-linked 2 semapv:ManualMappingCuration MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:ManualMappingCuration MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch OMIM:300498 intellectual developmental disorder, X-linked 45 semapv:ManualMappingCuration MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:ManualMappingCuration MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:ManualMappingCuration MONDO:0010348 dyslexia, susceptibility to, 9 skos:exactMatch OMIM:300509 dyslexia, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch OMIM:300510 ovarian dysgenesis 2 semapv:ManualMappingCuration MONDO:0010350 premature ovarian failure 2A skos:exactMatch OMIM:300511 premature ovarian failure 2a semapv:ManualMappingCuration MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch OMIM:300514 fanconi anemia, complementation group B semapv:ManualMappingCuration MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:ManualMappingCuration MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch OMIM:300519 martin-probst syndrome semapv:ManualMappingCuration MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch OMIM:300523 allan-herndon-dudley syndrome semapv:ManualMappingCuration MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen type semapv:ManualMappingCuration MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch OMIM:300539 nephrogenic syndrome of inappropriate antidiuresis semapv:ManualMappingCuration MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:ManualMappingCuration MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch OMIM:300554 hypophosphatemic rickets, X-linked recessive semapv:ManualMappingCuration MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300555 dent disease 2 semapv:ManualMappingCuration MONDO:0010360 Parkinson disease 12 skos:exactMatch OMIM:300557 parkinson disease 12 semapv:ManualMappingCuration MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:ManualMappingCuration MONDO:0010362 glycogen storage disease IXd skos:exactMatch OMIM:300559 glycogen storage disease ixd semapv:ManualMappingCuration MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:ManualMappingCuration MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:ManualMappingCuration MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked semapv:ManualMappingCuration MONDO:0010366 FG syndrome 5 skos:exactMatch OMIM:300581 fg syndrome 5 semapv:ManualMappingCuration MONDO:0010367 SHOX-related short stature skos:exactMatch OMIM:300582 short stature, idiopathic, X-linked semapv:ManualMappingCuration MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:ManualMappingCuration MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:ManualMappingCuration MONDO:0010371 Aland island eye disease skos:exactMatch OMIM:300600 aland island eye disease semapv:ManualMappingCuration MONDO:0010373 premature ovarian failure 2B skos:exactMatch OMIM:300604 premature ovarian failure 2b semapv:ManualMappingCuration MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch OMIM:300605 retinitis pigmentosa 34 semapv:ManualMappingCuration MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:ManualMappingCuration MONDO:0010377 myopia 13, X-linked skos:exactMatch OMIM:300613 myopia 13, X-linked semapv:ManualMappingCuration MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:ManualMappingCuration MONDO:0010379 Brunner syndrome skos:exactMatch OMIM:300615 brunner syndrome semapv:ManualMappingCuration MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:ManualMappingCuration MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch OMIM:300622 tn polyagglutination syndrome semapv:ManualMappingCuration MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:ManualMappingCuration MONDO:0010383 fragile X syndrome skos:exactMatch OMIM:300624 fragile 10 syndrome semapv:ManualMappingCuration MONDO:0010384 hypospadias 1, X-linked skos:exactMatch OMIM:300633 hypospadias 1, X-linked semapv:ManualMappingCuration MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:ManualMappingCuration MONDO:0010386 immunodeficiency 33 skos:exactMatch OMIM:300636 immunodeficiency 33 semapv:ManualMappingCuration MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:ManualMappingCuration MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:ManualMappingCuration MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch OMIM:300645 immunodeficiency 34 semapv:ManualMappingCuration MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:ManualMappingCuration MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch OMIM:300652 angioma serpiginosum, X-linked semapv:ManualMappingCuration MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:ManualMappingCuration MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:ManualMappingCuration MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:ManualMappingCuration MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:ManualMappingCuration MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:ManualMappingCuration MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 semapv:ManualMappingCuration MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:ManualMappingCuration MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:ManualMappingCuration MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:ManualMappingCuration MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type semapv:ManualMappingCuration MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch OMIM:300700 albinism-deafness syndrome semapv:ManualMappingCuration MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:ManualMappingCuration MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch OMIM:300704 prostate cancer, hereditary, X-linked 2 semapv:ManualMappingCuration MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:ManualMappingCuration MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type semapv:ManualMappingCuration MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:ManualMappingCuration MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch OMIM:300709 intellectual developmental disorder, x-linked, syndromic 9 semapv:ManualMappingCuration MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch OMIM:300710 alopecia, androgenetic, 2 semapv:ManualMappingCuration MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 semapv:ManualMappingCuration MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch OMIM:300712 craniofacioskeletal syndrome semapv:ManualMappingCuration MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:ManualMappingCuration MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:ManualMappingCuration MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:ManualMappingCuration MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities semapv:ManualMappingCuration MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:ManualMappingCuration MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:ManualMappingCuration MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:ManualMappingCuration MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch OMIM:300755 agammaglobulinemia, X-linked semapv:ManualMappingCuration MONDO:0010422 Alzheimer disease 16 skos:exactMatch OMIM:300756 alzheimer disease 16 semapv:ManualMappingCuration MONDO:0010423 hypospadias 2, X-linked skos:exactMatch OMIM:300758 hypospadias 2, X-linked semapv:ManualMappingCuration MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:ManualMappingCuration MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:ManualMappingCuration MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:ManualMappingCuration MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond type semapv:ManualMappingCuration MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch OMIM:300801 chromosome xp11.23-p11.22 duplication syndrome semapv:ManualMappingCuration MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:ManualMappingCuration MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:ManualMappingCuration MONDO:0010431 Joubert syndrome 10 skos:exactMatch OMIM:300804 joubert syndrome 10 semapv:ManualMappingCuration MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:ManualMappingCuration MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 semapv:ManualMappingCuration MONDO:0010434 synovial sarcoma skos:exactMatch OMIM:300813 sarcoma, synovial semapv:ManualMappingCuration MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:ManualMappingCuration MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch OMIM:300815 chromosome xq28 duplication syndrome semapv:ManualMappingCuration MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:ManualMappingCuration MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 semapv:ManualMappingCuration MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch OMIM:300829 cardiomyopathy, fatal fetal, due to myocardial calcification semapv:ManualMappingCuration MONDO:0010440 autism, susceptibility to, X-linked 4 skos:exactMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:ManualMappingCuration MONDO:0010441 CK syndrome skos:exactMatch OMIM:300831 ck syndrome semapv:ManualMappingCuration MONDO:0010442 46,XX sex reversal 3 skos:exactMatch OMIM:300833 46,xx sex reversal 3 semapv:ManualMappingCuration MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch OMIM:300834 macular degeneration, atrophic, X-linked semapv:ManualMappingCuration MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:ManualMappingCuration MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch OMIM:300843 bornholm eye disease semapv:ManualMappingCuration MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:ManualMappingCuration MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:ManualMappingCuration MONDO:0010449 autism, susceptibility to, X-linked 5 skos:exactMatch OMIM:300847 autism, susceptibility to, X-linked 5 semapv:ManualMappingCuration MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:ManualMappingCuration MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:ManualMappingCuration MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:ManualMappingCuration MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:ManualMappingCuration MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch OMIM:300852 intellectual developmental disorder, X-linked 88 semapv:ManualMappingCuration MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:ManualMappingCuration MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:300854 renal cell carcinoma, xp11-associated semapv:ManualMappingCuration MONDO:0010457 Ogden syndrome skos:exactMatch OMIM:300855 ogden syndrome semapv:ManualMappingCuration MONDO:0010458 hypospadias 4, X-linked skos:exactMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:ManualMappingCuration MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:ManualMappingCuration MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:ManualMappingCuration MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento type semapv:ManualMappingCuration MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz type semapv:ManualMappingCuration MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:ManualMappingCuration MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:ManualMappingCuration MONDO:0010465 Kabuki syndrome 2 skos:exactMatch OMIM:300867 kabuki syndrome 2 semapv:ManualMappingCuration MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:ManualMappingCuration MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:ManualMappingCuration MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:ManualMappingCuration MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:exactMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:ManualMappingCuration MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:ManualMappingCuration MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch OMIM:300882 cornelia lange lange syndrome 5 semapv:ManualMappingCuration MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:ManualMappingCuration MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 semapv:ManualMappingCuration MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:ManualMappingCuration MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch OMIM:300888 hypothyroidism, central, with testicular enlargement semapv:ManualMappingCuration MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch OMIM:300894 neurodegeneration with brain iron accumulation 5 semapv:ManualMappingCuration MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch OMIM:300895 ohdo syndrome, X-linked semapv:ManualMappingCuration MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch OMIM:300896 congenital disorder of glycosylation, type iim semapv:ManualMappingCuration MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:ManualMappingCuration MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch OMIM:300908 anemia, congenital, nonspherocytic hemolytic, 1 semapv:ManualMappingCuration MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:ManualMappingCuration MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:ManualMappingCuration MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch OMIM:300914 deafness, X-linked 6 semapv:ManualMappingCuration MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch OMIM:300915 microphthalmia, syndromic 13 semapv:ManualMappingCuration MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch OMIM:300918 olmsted syndrome, X-linked semapv:ManualMappingCuration MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:ManualMappingCuration MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch OMIM:300923 intellectual developmental disorder, X-linked 100 semapv:ManualMappingCuration MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch OMIM:300928 intellectual developmental disorder, X-linked 101 semapv:ManualMappingCuration MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch OMIM:300934 congenital disorder of glycosylation, type iy semapv:ManualMappingCuration MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:ManualMappingCuration MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:ManualMappingCuration MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis semapv:ManualMappingCuration MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:ManualMappingCuration MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch OMIM:300953 trichothiodystrophy 5, nonphotosensitive semapv:ManualMappingCuration MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type semapv:ManualMappingCuration MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type semapv:ManualMappingCuration MONDO:0010498 MEND syndrome skos:exactMatch OMIM:300960 MEND syndrome semapv:ManualMappingCuration MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch OMIM:300963 ritscher-schinzel syndrome 2 semapv:ManualMappingCuration MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 semapv:ManualMappingCuration MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch OMIM:300967 intellectual developmental disorder, x-linked, syndromic 34 semapv:ManualMappingCuration MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch OMIM:300968 intellectual developmental disorder, X-linked 99, syndromic, female-restricted semapv:ManualMappingCuration MONDO:0010503 Bartter disease type 5 skos:exactMatch OMIM:300971 bartter syndrome, type 5, antenatal, transient semapv:ManualMappingCuration MONDO:0010504 immunodeficiency 47 skos:exactMatch OMIM:300972 immunodeficiency 47 semapv:ManualMappingCuration MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch OMIM:300977 scholte syndrome semapv:ManualMappingCuration MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch OMIM:300978 tonne-kalscheuer syndrome semapv:ManualMappingCuration MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch OMIM:300979 chromosome xq25 duplication syndrome semapv:ManualMappingCuration MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch OMIM:300982 intellectual developmental disorder, X-linked 103 semapv:ManualMappingCuration MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch OMIM:300983 intellectual developmental disorder, X-linked 104 semapv:ManualMappingCuration MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch OMIM:300984 intellectual developmental disorder, X-linked 105 semapv:ManualMappingCuration MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch OMIM:300985 vas deferens, congenital bilateral aplasia of, X-linked semapv:ManualMappingCuration MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch OMIM:300986 intellectual developmental disorder, x-linked, syndromic, bain type semapv:ManualMappingCuration MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch OMIM:300988 immunodeficiency 50 semapv:ManualMappingCuration MONDO:0010515 Meester-Loeys syndrome skos:exactMatch OMIM:300989 meester-loeys syndrome semapv:ManualMappingCuration MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:ManualMappingCuration MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:ManualMappingCuration MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch OMIM:301000 wiskott-aldrich syndrome semapv:ManualMappingCuration MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:ManualMappingCuration MONDO:0010520 X-linked Alport syndrome skos:exactMatch OMIM:301050 alport syndrome 1, X-linked semapv:ManualMappingCuration MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch OMIM:301200 amelogenesis imperfecta, type 1e semapv:ManualMappingCuration MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:ManualMappingCuration MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:ManualMappingCuration MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch OMIM:301310 spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia semapv:ManualMappingCuration MONDO:0010525 neural tube defects, X-linked skos:exactMatch OMIM:301410 neural tube defects, X-linked semapv:ManualMappingCuration MONDO:0010526 Fabry disease skos:exactMatch OMIM:301500 fabry disease semapv:ManualMappingCuration MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:ManualMappingCuration MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:ManualMappingCuration MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:ManualMappingCuration MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:ManualMappingCuration MONDO:0010533 Arts syndrome skos:exactMatch OMIM:301835 ARTS syndrome semapv:ManualMappingCuration MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:ManualMappingCuration MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch OMIM:301845 bazex-dupre-christol syndrome semapv:ManualMappingCuration MONDO:0010536 tubulin, beta skos:exactMatch OMIM:301850 tubulin, beta semapv:ManualMappingCuration MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:ManualMappingCuration MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch OMIM:301940 brachydactyly, mononen type semapv:ManualMappingCuration MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch OMIM:301950 branchial arch syndrome, X-linked semapv:ManualMappingCuration MONDO:0010540 bullous dystrophy, macular type skos:exactMatch OMIM:302000 bullous dystrophy, hereditary macular type semapv:ManualMappingCuration MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch OMIM:302030 calvarial hyperostosis semapv:ManualMappingCuration MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:ManualMappingCuration MONDO:0010543 Barth syndrome skos:exactMatch OMIM:302060 barth syndrome semapv:ManualMappingCuration MONDO:0010544 cataract 40 skos:exactMatch OMIM:302200 cataract 40 semapv:ManualMappingCuration MONDO:0010545 Nance-Horan syndrome skos:exactMatch OMIM:302350 nance-horan syndrome semapv:ManualMappingCuration MONDO:0010546 central incisors, absence of skos:exactMatch OMIM:302400 central incisors, absence of semapv:ManualMappingCuration MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:ManualMappingCuration MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:ManualMappingCuration MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:ManualMappingCuration MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 semapv:ManualMappingCuration MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch OMIM:302802 charcot-marie-tooth disease, X-linked recessive, 3 semapv:ManualMappingCuration MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch OMIM:302803 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita semapv:ManualMappingCuration MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined skos:exactMatch OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined semapv:ManualMappingCuration MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch OMIM:302905 abruzzo-erickson syndrome semapv:ManualMappingCuration MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:ManualMappingCuration MONDO:0010557 choroideremia skos:exactMatch OMIM:303100 choroideremia semapv:ManualMappingCuration MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:ManualMappingCuration MONDO:0010559 MASA syndrome skos:exactMatch OMIM:303350 masa syndrome semapv:ManualMappingCuration MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch OMIM:303400 cleft palate with or without ankyloglossia, X-linked semapv:ManualMappingCuration MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch OMIM:303600 coffin-lowry syndrome semapv:ManualMappingCuration MONDO:0010562 colonic atresia skos:exactMatch OMIM:303650 colonic atresia semapv:ManualMappingCuration MONDO:0010563 blue cone monochromacy skos:exactMatch OMIM:303700 blue cone monochromacy semapv:ManualMappingCuration MONDO:0010564 red-green color blindness skos:exactMatch OMIM:303800 colorblindness, partial, deutan series semapv:ManualMappingCuration MONDO:0010565 red color blindness skos:exactMatch OMIM:303900 colorblindness, partial, protan series semapv:ManualMappingCuration MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:ManualMappingCuration MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch OMIM:304030 cone dystrophy, x-linked, with tapetal-like sheen semapv:ManualMappingCuration MONDO:0010568 Aicardi syndrome skos:exactMatch OMIM:304050 aicardi syndrome semapv:ManualMappingCuration MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:ManualMappingCuration MONDO:0010570 craniofrontonasal syndrome skos:exactMatch OMIM:304110 craniofrontonasal syndrome semapv:ManualMappingCuration MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch OMIM:304120 otopalatodigital syndrome, type 2 semapv:ManualMappingCuration MONDO:0010572 occipital horn syndrome skos:exactMatch OMIM:304150 occipital horn syndrome semapv:ManualMappingCuration MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch OMIM:304200 cutis verticis gyrata, thyroid aplasia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch OMIM:304340 pettigrew syndrome semapv:ManualMappingCuration MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch OMIM:304350 deafness-hypogonadism syndrome semapv:ManualMappingCuration MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch OMIM:304400 deafness, X-linked 2 semapv:ManualMappingCuration MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch OMIM:304500 deafness, X-linked 1 semapv:ManualMappingCuration MONDO:0010578 deafness dystonia syndrome skos:exactMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:ManualMappingCuration MONDO:0010579 X-linked corneal dermoid skos:exactMatch OMIM:304730 dermoids of cornea semapv:ManualMappingCuration MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:ManualMappingCuration MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:ManualMappingCuration MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance skos:exactMatch OMIM:304900 diabetes insipidus, neurohypophyseal, X-linked semapv:ManualMappingCuration MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:exactMatch OMIM:304950 dyggve-melchior-clausen syndrome, X-linked semapv:ManualMappingCuration MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:ManualMappingCuration MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:ManualMappingCuration MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch OMIM:305350 epidermodysplasia verruciformis, X-linked semapv:ManualMappingCuration MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:ManualMappingCuration MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:ManualMappingCuration MONDO:0010590 FG syndrome 1 skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:ManualMappingCuration MONDO:0010591 fingerprint body myopathy skos:exactMatch OMIM:305550 fingerprint body myopathy semapv:ManualMappingCuration MONDO:0010592 focal dermal hypoplasia skos:exactMatch OMIM:305600 focal dermal hypoplasia semapv:ManualMappingCuration MONDO:0010594 obsolete inherited genitourinary tract anomalies skos:exactMatch OMIM:305690 genitourinary tract anomalies semapv:ManualMappingCuration MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:ManualMappingCuration MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:ManualMappingCuration MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:ManualMappingCuration MONDO:0010599 granulomas, congenital cerebral skos:exactMatch OMIM:306300 granulomas, congenital cerebral semapv:ManualMappingCuration MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch OMIM:306400 granulomatous disease, chronic, X-linked semapv:ManualMappingCuration MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:ManualMappingCuration MONDO:0010602 hemophilia A skos:exactMatch OMIM:134500 factor 8 deficiency semapv:ManualMappingCuration MONDO:0010602 hemophilia A skos:exactMatch OMIM:306700 hemophilia a semapv:ManualMappingCuration MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch OMIM:306800 hemophilia a with vascular abnormality semapv:ManualMappingCuration MONDO:0010604 hemophilia B skos:exactMatch OMIM:306900 hemophilia B semapv:ManualMappingCuration MONDO:0010605 hemopoietic proliferation skos:exactMatch OMIM:306930 hemopoietic proliferation semapv:ManualMappingCuration MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch OMIM:306950 diaphragmatic hernia 5, X-linked semapv:ManualMappingCuration MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:ManualMappingCuration MONDO:0010608 Hhhh syndrome skos:exactMatch OMIM:306960 hhhh syndrome semapv:ManualMappingCuration MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch OMIM:306990 microhydranencephaly, X-linked semapv:ManualMappingCuration MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:ManualMappingCuration MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:ManualMappingCuration MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:ManualMappingCuration MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch OMIM:307150 hypertrichosis, congenital generalized, 2 semapv:ManualMappingCuration MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch OMIM:307200 isolated growth hormone deficiency, type iii, with agammaglobulinemia semapv:ManualMappingCuration MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch OMIM:307500 hypogonadism, male, with impaired intellectual development and skeletal anomalies semapv:ManualMappingCuration MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch OMIM:307700 hypoparathyroidism, X-linked semapv:ManualMappingCuration MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:ManualMappingCuration MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch OMIM:307830 hypouricemia, familial renal, due to tubular hypersecretion semapv:ManualMappingCuration MONDO:0010621 CHILD syndrome skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:ManualMappingCuration MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch OMIM:308100 ichthyosis, X-linked semapv:ManualMappingCuration MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch OMIM:308200 ichthyosis and male hypogonadism semapv:ManualMappingCuration MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:ManualMappingCuration MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, type 1 semapv:ManualMappingCuration MONDO:0010628 immunoglobulin M, level of skos:exactMatch OMIM:308250 immunoglobulin m, level of semapv:ManualMappingCuration MONDO:0010629 impacted teeth, multiple skos:exactMatch OMIM:308280 impacted teeth, multiple semapv:ManualMappingCuration MONDO:0010630 imprinting gene related to retinoblastoma skos:exactMatch OMIM:308290 imprinting gene related to retinoblastoma semapv:ManualMappingCuration MONDO:0010631 incontinentia pigmenti skos:exactMatch OMIM:308300 incontinentia pigmenti semapv:ManualMappingCuration MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:ManualMappingCuration MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:308500 iris hypoplasia with glaucoma semapv:ManualMappingCuration MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch OMIM:308600 jaundice, familial obstructive, of infancy semapv:ManualMappingCuration MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:ManualMappingCuration MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:ManualMappingCuration MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:ManualMappingCuration MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:ManualMappingCuration MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch OMIM:308850 laryngeal abductor paralysis, X-linked semapv:ManualMappingCuration MONDO:0010640 Leber optic atrophy, susceptibility to skos:exactMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:ManualMappingCuration MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:ManualMappingCuration MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:exactMatch OMIM:308950 lesch-nyhan phenotype with normal hgprt semapv:ManualMappingCuration MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch OMIM:308990 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis semapv:ManualMappingCuration MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:ManualMappingCuration MONDO:0010646 macular dystrophy, X-linked skos:exactMatch OMIM:309100 macular dystrophy, X-linked semapv:ManualMappingCuration MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch OMIM:309120 spermatogenic failure, x-linked, 2 semapv:ManualMappingCuration MONDO:0010648 major affective disorder 2 skos:exactMatch OMIM:309200 major affective disorder 2 semapv:ManualMappingCuration MONDO:0010649 isolated congenital megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:ManualMappingCuration MONDO:0010650 Melnick-Needles syndrome skos:exactMatch OMIM:309350 melnick-needles syndrome semapv:ManualMappingCuration MONDO:0010651 Menkes disease skos:exactMatch OMIM:309400 menkes disease semapv:ManualMappingCuration MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch OMIM:309480 impaired intellectual development and psoriasis semapv:ManualMappingCuration MONDO:0010653 Renpenning syndrome skos:exactMatch OMIM:309500 renpenning syndrome 1 semapv:ManualMappingCuration MONDO:0010654 Partington syndrome skos:exactMatch OMIM:309510 partington syndrome semapv:ManualMappingCuration MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type semapv:ManualMappingCuration MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch OMIM:309530 intellectual developmental disorder, X-linked 1 semapv:ManualMappingCuration MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx type semapv:ManualMappingCuration MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:ManualMappingCuration MONDO:0010659 FRAXE intellectual disability skos:exactMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:ManualMappingCuration MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:ManualMappingCuration MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson type semapv:ManualMappingCuration MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch OMIM:309560 impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis semapv:ManualMappingCuration MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:ManualMappingCuration MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type semapv:ManualMappingCuration MONDO:0010665 Wilson-Turner syndrome skos:exactMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner type semapv:ManualMappingCuration MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:ManualMappingCuration MONDO:0010667 Prieto syndrome skos:exactMatch OMIM:309610 prieto syndrome semapv:ManualMappingCuration MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch OMIM:309620 christian syndrome semapv:ManualMappingCuration MONDO:0010669 syndactyly type 8 skos:exactMatch OMIM:309630 metacarpal 4-5 fusion semapv:ManualMappingCuration MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch OMIM:309640 mental retardation with spastic paraplegia semapv:ManualMappingCuration MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch OMIM:309800 microphthalmia, syndromic 1 semapv:ManualMappingCuration MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:ManualMappingCuration MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch OMIM:309900 mucopolysaccharidosis, type 2 semapv:ManualMappingCuration MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch OMIM:309930 muscular dystrophy, cardiac type semapv:ManualMappingCuration MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch OMIM:309950 muscular dystrophy, hemizygous lethal type semapv:ManualMappingCuration MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch OMIM:310000 muscular dystrophy, mabry type semapv:ManualMappingCuration MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:ManualMappingCuration MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch OMIM:310200 muscular dystrophy, duchenne type semapv:ManualMappingCuration MONDO:0010681 myelolymphatic insufficiency skos:exactMatch OMIM:310350 myelolymphatic insufficiency semapv:ManualMappingCuration MONDO:0010682 obsolete myoclonic epilepsy, progressive, X-linked skos:exactMatch OMIM:310370 myoclonic epilepsy, progressive semapv:ManualMappingCuration MONDO:0010683 X-linked myotubular myopathy skos:exactMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:ManualMappingCuration MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:ManualMappingCuration MONDO:0010685 myopia 1, X-linked skos:exactMatch OMIM:310460 myopia 1, X-linked semapv:ManualMappingCuration MONDO:0010686 N syndrome skos:exactMatch OMIM:310465 n syndrome semapv:ManualMappingCuration MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:ManualMappingCuration MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:ManualMappingCuration MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:ManualMappingCuration MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch OMIM:310500 night blindness, congenital stationary, type 1a semapv:ManualMappingCuration MONDO:0010691 Norrie disease skos:exactMatch OMIM:310600 norrie disease semapv:ManualMappingCuration MONDO:0010692 nuclear ribonucleic acid skos:exactMatch OMIM:310650 nuclear ribonucleic acid semapv:ManualMappingCuration MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:ManualMappingCuration MONDO:0010694 nystagmus, myoclonic skos:exactMatch OMIM:310800 nystagmus, myoclonic semapv:ManualMappingCuration MONDO:0010695 occipital hair, white lock of skos:exactMatch OMIM:310900 occipital hair, white lock of semapv:ManualMappingCuration MONDO:0010696 omphalocele, X-linked skos:exactMatch OMIM:310980 omphalocele, X-linked semapv:ManualMappingCuration MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:ManualMappingCuration MONDO:0010698 optic atrophy 2 skos:exactMatch OMIM:311050 optic atrophy 2 semapv:ManualMappingCuration MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch OMIM:311070 charcot-marie-tooth disease, X-linked recessive, 5 semapv:ManualMappingCuration MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch OMIM:311100 optic atrophy--spastic paraplegia syndrome semapv:ManualMappingCuration MONDO:0010702 orofaciodigital syndrome I skos:exactMatch OMIM:311200 orofaciodigital syndrome 1 semapv:ManualMappingCuration MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:ManualMappingCuration MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch OMIM:311300 otopalatodigital syndrome, type 1 semapv:ManualMappingCuration MONDO:0010705 obsolete ouabain resistance skos:exactMatch OMIM:311350 ouabain resistance semapv:ManualMappingCuration MONDO:0010706 premature ovarian failure 1 skos:exactMatch OMIM:311360 premature ovarian failure 1 semapv:ManualMappingCuration MONDO:0010707 Paine syndrome skos:exactMatch OMIM:311400 paine syndrome semapv:ManualMappingCuration MONDO:0010708 Pallister-W syndrome skos:exactMatch OMIM:311450 pallister w syndrome semapv:ManualMappingCuration MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch OMIM:311510 waisman syndrome semapv:ManualMappingCuration MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:ManualMappingCuration MONDO:0010711 TARP syndrome skos:exactMatch OMIM:311900 tarp syndrome semapv:ManualMappingCuration MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch OMIM:312000 panhypopituitarism, X-linked semapv:ManualMappingCuration MONDO:0010713 properdin deficiency, X-linked skos:exactMatch OMIM:312060 properdin deficiency, X-linked semapv:ManualMappingCuration MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch OMIM:312080 pelizaeus-merzbacher disease semapv:ManualMappingCuration MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:ManualMappingCuration MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:ManualMappingCuration MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch OMIM:312190 radial aplasia, X-linked semapv:ManualMappingCuration MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:ManualMappingCuration MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch OMIM:312300 androgen insensitivity, partial semapv:ManualMappingCuration MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch OMIM:312500 reticuloendotheliosis, X-linked semapv:ManualMappingCuration MONDO:0010722 X-linked retinal dysplasia skos:exactMatch OMIM:312550 retinal dysplasia, primary semapv:ManualMappingCuration MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch OMIM:312600 retinitis pigmentosa 2 semapv:ManualMappingCuration MONDO:0010725 X-linked retinoschisis skos:exactMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:ManualMappingCuration MONDO:0010726 Rett syndrome skos:exactMatch OMIM:312750 rett syndrome semapv:ManualMappingCuration MONDO:0010727 Russell-silver syndrome, X-linked skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:ManualMappingCuration MONDO:0010728 SCARF syndrome skos:exactMatch OMIM:312830 scarf syndrome semapv:ManualMappingCuration MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch OMIM:312840 schimke syndrome semapv:ManualMappingCuration MONDO:0010730 combined immunodeficiency, X-linked skos:exactMatch OMIM:312863 combined immunodeficiency, X-linked semapv:ManualMappingCuration MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch OMIM:312910 spastic paraparesis and deafness semapv:ManualMappingCuration MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:ManualMappingCuration MONDO:0010734 spatial visualization, aptitude for skos:exactMatch OMIM:313000 spatial visualization, aptitude for semapv:ManualMappingCuration MONDO:0010735 Kennedy disease skos:exactMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:ManualMappingCuration MONDO:0010736 split hand-foot malformation 2 skos:exactMatch OMIM:313350 split-hand/foot malformation 2 semapv:ManualMappingCuration MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:ManualMappingCuration MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:ManualMappingCuration MONDO:0010739 Taqi polymorphism skos:exactMatch OMIM:313480 taqi polymorphism semapv:ManualMappingCuration MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch OMIM:313490 taurodontism, microdontia, and dens invaginatus semapv:ManualMappingCuration MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:ManualMappingCuration MONDO:0010742 pentalogy of Cantrell skos:exactMatch OMIM:313850 thoracoabdominal syndrome semapv:ManualMappingCuration MONDO:0010743 thrombocytopenia 1 skos:exactMatch OMIM:313900 thrombocytopenia 1 semapv:ManualMappingCuration MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch OMIM:314000 thrombocytopenia with elevated serum iga and renal disease semapv:ManualMappingCuration MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:ManualMappingCuration MONDO:0010746 thumbs, congenital Clasped skos:exactMatch OMIM:314100 adducted thumbs, congenital semapv:ManualMappingCuration MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:ManualMappingCuration MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:ManualMappingCuration MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:ManualMappingCuration MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:ManualMappingCuration MONDO:0010751 unique green phenomenon skos:exactMatch OMIM:314380 unique green phenomenon semapv:ManualMappingCuration MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:ManualMappingCuration MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch OMIM:314400 cardiac valvular dysplasia, X-linked semapv:ManualMappingCuration MONDO:0010754 van den Bosch syndrome skos:exactMatch OMIM:314500 van den bosch syndrome semapv:ManualMappingCuration MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch OMIM:314550 vesicoureteral reflux, X-linked semapv:ManualMappingCuration MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch OMIM:314560 von willebrand disease, X-linked form semapv:ManualMappingCuration MONDO:0010757 widow's peak syndrome skos:exactMatch OMIM:314570 widow's peak syndrome semapv:ManualMappingCuration MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:314580 wieacker-wolff syndrome semapv:ManualMappingCuration MONDO:0010759 Wildervanck syndrome skos:exactMatch OMIM:314600 wildervanck syndrome semapv:ManualMappingCuration MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch OMIM:400004 retinitis pigmentosa, Y-linked semapv:ManualMappingCuration MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:ManualMappingCuration MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:ManualMappingCuration MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch OMIM:400043 deafness, Y-linked 1 semapv:ManualMappingCuration MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:ManualMappingCuration MONDO:0010769 hairy ears, Y-linked skos:exactMatch OMIM:425500 hairy ears, Y-linked semapv:ManualMappingCuration MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:exactMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:ManualMappingCuration MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:ManualMappingCuration MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch OMIM:500001 leber optic atrophy and dystonia semapv:ManualMappingCuration MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:ManualMappingCuration MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:ManualMappingCuration MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:ManualMappingCuration MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch OMIM:500005 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial semapv:ManualMappingCuration MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch OMIM:500006 cardiomyopathy, infantile hypertrophic semapv:ManualMappingCuration MONDO:0010778 cyclic vomiting syndrome skos:exactMatch OMIM:500007 cyclic vomiting syndrome semapv:ManualMappingCuration MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:ManualMappingCuration MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:ManualMappingCuration MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch OMIM:500010 ataxia and polyneuropathy, adult-onset semapv:ManualMappingCuration MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch OMIM:500011 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:ManualMappingCuration MONDO:0010784 chloramphenicol toxicity skos:exactMatch OMIM:515000 chloramphenicol toxicity semapv:ManualMappingCuration MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:ManualMappingCuration MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:ManualMappingCuration MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:ManualMappingCuration MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch OMIM:535000 leber optic atrophy semapv:ManualMappingCuration MONDO:0010789 MELAS syndrome skos:exactMatch OMIM:540000 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes semapv:ManualMappingCuration MONDO:0010790 MERRF syndrome skos:exactMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:ManualMappingCuration MONDO:0010791 myoglobinuria, recurrent skos:exactMatch OMIM:550500 myoglobinuria, recurrent semapv:ManualMappingCuration MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:ManualMappingCuration MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch OMIM:551200 nephropathy, chronic tubulointerstitial semapv:ManualMappingCuration MONDO:0010794 NARP syndrome skos:exactMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:ManualMappingCuration MONDO:0010795 oncocytic neoplasm skos:exactMatch OMIM:553000 oncocytoma semapv:ManualMappingCuration MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch OMIM:556500 parkinson disease, mitochondrial semapv:ManualMappingCuration MONDO:0010797 Pearson syndrome skos:exactMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:ManualMappingCuration MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:ManualMappingCuration MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch OMIM:580000 deafness, aminoglycoside-induced semapv:ManualMappingCuration MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:ManualMappingCuration MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch OMIM:600000 spondylocamptodactyly semapv:ManualMappingCuration MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:ManualMappingCuration MONDO:0010803 Eiken syndrome skos:exactMatch OMIM:600002 eiken syndrome semapv:ManualMappingCuration MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:ManualMappingCuration MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch OMIM:600059 retinitis pigmentosa 13 semapv:ManualMappingCuration MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch OMIM:600060 deafness, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0010808 fatal familial insomnia skos:exactMatch OMIM:600072 fatal familial insomnia semapv:ManualMappingCuration MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:ManualMappingCuration MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, type 1b semapv:ManualMappingCuration MONDO:0010811 benign prostatic hyperplasia skos:exactMatch OMIM:600082 prostatic hyperplasia, benign semapv:ManualMappingCuration MONDO:0010812 macrocytosis, familial skos:exactMatch OMIM:600084 macrocytosis, familial semapv:ManualMappingCuration MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus semapv:ManualMappingCuration MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch OMIM:600092 nivelon-nivelon-mabille syndrome semapv:ManualMappingCuration MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch OMIM:600093 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:ManualMappingCuration MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:ManualMappingCuration MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch OMIM:600101 deafness, autosomal dominant 2a semapv:ManualMappingCuration MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch OMIM:600105 retinitis pigmentosa 12 semapv:ManualMappingCuration MONDO:0010819 Stargardt disease 3 skos:exactMatch OMIM:600110 stargardt disease 3 semapv:ManualMappingCuration MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:ManualMappingCuration MONDO:0010821 familial developmental dysphasia skos:exactMatch OMIM:600117 dysphasia, familial developmental semapv:ManualMappingCuration MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:ManualMappingCuration MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, type 3 semapv:ManualMappingCuration MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch OMIM:600122 verloes syndrome semapv:ManualMappingCuration MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:ManualMappingCuration MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch OMIM:600132 retinitis pigmentosa 14 semapv:ManualMappingCuration MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch OMIM:600138 retinitis pigmentosa 11 semapv:ManualMappingCuration MONDO:0010829 CARASIL syndrome skos:exactMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:ManualMappingCuration MONDO:0010831 familial caudal dysgenesis skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:ManualMappingCuration MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch OMIM:600151 bardet-biedl syndrome 3 semapv:ManualMappingCuration MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:exactMatch OMIM:600155 hirschsprung disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:600156 hirschsprung disease, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch OMIM:600159 pterygium colli and impaired intellectual development with facial and digital anomalies semapv:ManualMappingCuration MONDO:0010836 nanophthalmos 1 skos:exactMatch OMIM:600165 nanophthalmos 1 semapv:ManualMappingCuration MONDO:0010838 gonadal agenesis skos:exactMatch OMIM:600171 gonadal agenesis semapv:ManualMappingCuration MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch OMIM:600175 neuronopathy, distal hereditary motor, autosomal dominant 8 semapv:ManualMappingCuration MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:ManualMappingCuration MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch OMIM:600193 waardenburg syndrome, type 2b semapv:ManualMappingCuration MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:ManualMappingCuration MONDO:0010843 dyslexia, susceptibility to, 2 skos:exactMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch OMIM:600204 epiphyseal dysplasia, multiple, 2 semapv:ManualMappingCuration MONDO:0010846 exostoses, multiple, type III skos:exactMatch OMIM:600209 exostoses, multiple, type 3 semapv:ManualMappingCuration MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch OMIM:600223 spinocerebellar ataxia 4 semapv:ManualMappingCuration MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch OMIM:600224 spinocerebellar ataxia 5 semapv:ManualMappingCuration MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch OMIM:600231 palmoplantar keratoderma, bothnian type semapv:ManualMappingCuration MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch OMIM:600251 facial clefting, oblique, 1 semapv:ManualMappingCuration MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch OMIM:600252 lowry-maclean syndrome semapv:ManualMappingCuration MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:ManualMappingCuration MONDO:0010853 Helicobacter pylori infection, susceptibility to skos:exactMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:ManualMappingCuration MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch OMIM:600268 oculoectodermal syndrome semapv:ManualMappingCuration MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:ManualMappingCuration MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:ManualMappingCuration MONDO:0010857 semantic dementia skos:exactMatch OMIM:600274 frontotemporal dementia 1 semapv:ManualMappingCuration MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch OMIM:600302 fryns macrocephaly semapv:ManualMappingCuration MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:ManualMappingCuration MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch OMIM:600316 deafness, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch OMIM:600318 type 1 diabetes mellitus 3 semapv:ManualMappingCuration MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch OMIM:600319 type 1 diabetes mellitus 4 semapv:ManualMappingCuration MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch OMIM:600320 type 1 diabetes mellitus 5 semapv:ManualMappingCuration MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch OMIM:600321 type 1 diabetes mellitus 7 semapv:ManualMappingCuration MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:ManualMappingCuration MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:ManualMappingCuration MONDO:0010867 PARC syndrome skos:exactMatch OMIM:600331 parc syndrome semapv:ManualMappingCuration MONDO:0010868 rippling muscle disease 1 skos:exactMatch OMIM:600332 rippling muscle disease 1 semapv:ManualMappingCuration MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch OMIM:600333 motor neuron disease with dementia and ophthalmoplegia semapv:ManualMappingCuration MONDO:0010870 tibial muscular dystrophy skos:exactMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:ManualMappingCuration MONDO:0010871 succinic acidemia skos:exactMatch OMIM:600335 succinic acidemia semapv:ManualMappingCuration MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:exactMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:ManualMappingCuration MONDO:0010873 band heterotopia of brain skos:exactMatch OMIM:600348 band heterotopia semapv:ManualMappingCuration MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch OMIM:600351 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency semapv:ManualMappingCuration MONDO:0010875 pachydermodactyly, familial skos:exactMatch OMIM:600356 pachydermodactyly, familial semapv:ManualMappingCuration MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:ManualMappingCuration MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:ManualMappingCuration MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:ManualMappingCuration MONDO:0010879 CODAS syndrome skos:exactMatch OMIM:600373 codas syndrome semapv:ManualMappingCuration MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, type 2 semapv:ManualMappingCuration MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch OMIM:600383 mesomelia-synostoses syndrome semapv:ManualMappingCuration MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:ManualMappingCuration MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:ManualMappingCuration MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch OMIM:600416 muscular dystrophy, scapulohumeral semapv:ManualMappingCuration MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch OMIM:600419 angiokeratoma corporis diffusum with arteriovenous fistulas semapv:ManualMappingCuration MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:ManualMappingCuration MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch OMIM:600457 hypertrichosis, anterior cervical semapv:ManualMappingCuration MONDO:0010888 adenomyosis skos:exactMatch OMIM:600458 adenomyosis semapv:ManualMappingCuration MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch OMIM:600459 arterial dissection with lentiginosis semapv:ManualMappingCuration MONDO:0010890 acrocardiofacial syndrome skos:exactMatch OMIM:600460 cleft palate, cardiac defects, genital anomalies, and ectrodactyly semapv:ManualMappingCuration MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:ManualMappingCuration MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch OMIM:600496 maturity-onset diabetes of the young, type 3 semapv:ManualMappingCuration MONDO:0010895 ABCD syndrome skos:exactMatch OMIM:600501 abcd syndrome semapv:ManualMappingCuration MONDO:0010896 pigment dispersion syndrome skos:exactMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:ManualMappingCuration MONDO:0010897 schizophrenia 3 skos:exactMatch OMIM:600511 schizophrenia 3 semapv:ManualMappingCuration MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:ManualMappingCuration MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch OMIM:600546 intrauterine growth retardation with increased mitomycin c sensitivity semapv:ManualMappingCuration MONDO:0010901 HEC syndrome skos:exactMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:ManualMappingCuration MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:ManualMappingCuration MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch OMIM:600593 craniosynostosis, adelaide type semapv:ManualMappingCuration MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch OMIM:600598 setting-sun phenomenon, familial benign semapv:ManualMappingCuration MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch OMIM:600624 cone-rod dystrophy 1 semapv:ManualMappingCuration MONDO:0010906 orofacial cleft 11 skos:exactMatch OMIM:600625 orofacial cleft 11 semapv:ManualMappingCuration MONDO:0010907 familial hypertryptophanemia skos:exactMatch OMIM:600627 hypertryptophanemia semapv:ManualMappingCuration MONDO:0010908 loose anagen syndrome skos:exactMatch OMIM:600628 loose anagen hair syndrome semapv:ManualMappingCuration MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch OMIM:600630 uv-sensitive syndrome 1 semapv:ManualMappingCuration MONDO:0010910 enuresis, nocturnal, 1 skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:ManualMappingCuration MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:ManualMappingCuration MONDO:0010913 Caroli disease skos:exactMatch OMIM:600643 caroli disease, isolated semapv:ManualMappingCuration MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:ManualMappingCuration MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch OMIM:600652 deafness, autosomal dominant 4a semapv:ManualMappingCuration MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:ManualMappingCuration MONDO:0010917 chondrocalcinosis 1 skos:exactMatch OMIM:600668 chondrocalcinosis 1 semapv:ManualMappingCuration MONDO:0010919 varicella, severe recurrent skos:exactMatch OMIM:600670 varicella, severe recurrent semapv:ManualMappingCuration MONDO:0010920 microtia skos:exactMatch OMIM:600674 microtia-anotia semapv:ManualMappingCuration MONDO:0010921 nasal dermoid cyst skos:exactMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:ManualMappingCuration MONDO:0010922 Satoyoshi syndrome skos:exactMatch OMIM:600705 satoyoshi syndrome semapv:ManualMappingCuration MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch OMIM:600706 proximal myopathy with focal depletion of mitochondria semapv:ManualMappingCuration MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch OMIM:600736 velofacioskeletal syndrome semapv:ManualMappingCuration MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 semapv:ManualMappingCuration MONDO:0010927 orofacial cleft 3 skos:exactMatch OMIM:600757 orofacial cleft 3 semapv:ManualMappingCuration MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch OMIM:600771 dwarfism, familial, with muscle spasms semapv:ManualMappingCuration MONDO:0010929 craniosynostosis 4 skos:exactMatch OMIM:600775 craniosynostosis 4 semapv:ManualMappingCuration MONDO:0010930 anophthalmia plus syndrome skos:exactMatch OMIM:600776 fryns microphthalmia syndrome semapv:ManualMappingCuration MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch OMIM:600785 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor semapv:ManualMappingCuration MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:ManualMappingCuration MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:ManualMappingCuration MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:ManualMappingCuration MONDO:0010937 isoproterenol-mediated vasodilatation skos:exactMatch OMIM:600801 isoproterenol-mediated vasodilatation semapv:ManualMappingCuration MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:ManualMappingCuration MONDO:0010939 low phospholipid associated cholelithiasis skos:exactMatch OMIM:600803 gallbladder disease 1 semapv:ManualMappingCuration MONDO:0010940 inherited susceptibility to asthma skos:exactMatch OMIM:600807 asthma, susceptibility to semapv:ManualMappingCuration MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch OMIM:600808 enuresis, nocturnal, 2 semapv:ManualMappingCuration MONDO:0010942 obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 skos:exactMatch OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 semapv:ManualMappingCuration MONDO:0010943 schizophrenia 4 skos:exactMatch OMIM:600850 schizophrenia 4 semapv:ManualMappingCuration MONDO:0010944 mitochondrial import-stimulating factor skos:exactMatch OMIM:600851 mitochondrial import-stimulating factor semapv:ManualMappingCuration MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch OMIM:600852 retinitis pigmentosa 17 semapv:ManualMappingCuration MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:ManualMappingCuration MONDO:0010947 Budd-Chiari syndrome skos:exactMatch OMIM:600880 budd-chiari syndrome semapv:ManualMappingCuration MONDO:0010948 cataract 10 multiple types skos:exactMatch OMIM:600881 cataract 10, multiple types semapv:ManualMappingCuration MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch OMIM:600882 charcot-marie-tooth disease, axonal, type 2b semapv:ManualMappingCuration MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch OMIM:600883 type 1 diabetes mellitus 8 semapv:ManualMappingCuration MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:ManualMappingCuration MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch OMIM:600886 hyperferritinemia with or without cataract semapv:ManualMappingCuration MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch OMIM:600901 fanconi anemia, complementation group e semapv:ManualMappingCuration MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch OMIM:600903 wiskott-aldrich syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch OMIM:600906 ectodermal dysplasia with impaired intellectual development and syndactyly semapv:ManualMappingCuration MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch OMIM:600907 enamel hypoplasia, cataracts, and aqueductal stenosis semapv:ManualMappingCuration MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch OMIM:600919 cardiac arrhythmia, ankyrin-b-related semapv:ManualMappingCuration MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch OMIM:600920 van den ende-gupta syndrome semapv:ManualMappingCuration MONDO:0010960 protocadherin 3 skos:exactMatch OMIM:600931 protocadherin 3 semapv:ManualMappingCuration MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:ManualMappingCuration MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:ManualMappingCuration MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch OMIM:600965 deafness, autosomal dominant 6 semapv:ManualMappingCuration MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:ManualMappingCuration MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch OMIM:600971 deafness, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0010966 achondrogenesis type IB skos:exactMatch OMIM:600972 achondrogenesis, type 1b semapv:ManualMappingCuration MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch OMIM:600974 deafness, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch OMIM:600975 glaucoma 3, primary infantile, B semapv:ManualMappingCuration MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch OMIM:600977 cone-rod dystrophy 5 semapv:ManualMappingCuration MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:ManualMappingCuration MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch OMIM:600989 infundibulopelvic dysgenesis semapv:ManualMappingCuration MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:ManualMappingCuration MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch OMIM:600994 deafness, autosomal dominant 5 semapv:ManualMappingCuration MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch OMIM:600995 nephrotic syndrome, type 2 semapv:ManualMappingCuration MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive semapv:ManualMappingCuration MONDO:0010977 Brody myopathy skos:exactMatch OMIM:601003 brody disease semapv:ManualMappingCuration MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch OMIM:601004 portal vein, cavernous transformation of semapv:ManualMappingCuration MONDO:0010979 Timothy syndrome skos:exactMatch OMIM:601005 timothy syndrome semapv:ManualMappingCuration MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:ManualMappingCuration MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:ManualMappingCuration MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch OMIM:601039 ichthyosis-impaired intellectual developmental syndrome with large keratohyalin granules 1n the skin semapv:ManualMappingCuration MONDO:0010983 dystonia 9 skos:exactMatch OMIM:601042 dystonia 9 semapv:ManualMappingCuration MONDO:0010984 Usher syndrome type 1D skos:exactMatch OMIM:601067 usher syndrome, type 1d semapv:ManualMappingCuration MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:ManualMappingCuration MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch OMIM:601071 deafness, autosomal recessive 9 semapv:ManualMappingCuration MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch OMIM:601072 deafness, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:ManualMappingCuration MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:ManualMappingCuration MONDO:0010990 obsolete Cd4/CD8 T-cell ratio skos:exactMatch OMIM:601083 cd4/cd8 t-cell ratio semapv:ManualMappingCuration MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch OMIM:601086 laterality defects, autosomal dominant semapv:ManualMappingCuration MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch OMIM:601088 ayme-gripp syndrome semapv:ManualMappingCuration MONDO:0010993 Harrod syndrome skos:exactMatch OMIM:601095 harrod syndrome semapv:ManualMappingCuration MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch OMIM:601096 spondyloepimetaphyseal dysplasia, micromelic semapv:ManualMappingCuration MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, type 1c semapv:ManualMappingCuration MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:ManualMappingCuration MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch OMIM:601110 congenital disorder of glycosylation, type id semapv:ManualMappingCuration MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:ManualMappingCuration MONDO:0011000 guanylate cyclase 2E skos:exactMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:ManualMappingCuration MONDO:0011001 Brugada syndrome 1 skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:ManualMappingCuration MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, type via, with optic atrophy semapv:ManualMappingCuration MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch OMIM:601154 cardiomyopathy, dilated, 1e semapv:ManualMappingCuration MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch OMIM:601160 lissencephaly type 3 and bone dysplasia semapv:ManualMappingCuration MONDO:0011005 trisomy 18-like syndrome skos:exactMatch OMIM:601161 trisomy 18-like syndrome semapv:ManualMappingCuration MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:ManualMappingCuration MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:ManualMappingCuration MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:ManualMappingCuration MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch OMIM:601170 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers semapv:ManualMappingCuration MONDO:0011010 Matthew-Wood syndrome skos:exactMatch OMIM:601186 microphthalmia, syndromic 9 semapv:ManualMappingCuration MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch OMIM:601187 gurrieri syndrome semapv:ManualMappingCuration MONDO:0011012 African iron overload skos:exactMatch OMIM:601195 iron overload 1n africa semapv:ManualMappingCuration MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0011014 pleuropulmonary blastoma skos:exactMatch OMIM:601200 pleuropulmonary blastoma semapv:ManualMappingCuration MONDO:0011015 cataract 24 skos:exactMatch OMIM:601202 cataract 24 semapv:ManualMappingCuration MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch OMIM:601208 type 1 diabetes mellitus 11 semapv:ManualMappingCuration MONDO:0011017 Naxos disease skos:exactMatch OMIM:601214 naxos disease semapv:ManualMappingCuration MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch OMIM:601216 dental anomalies and short stature semapv:ManualMappingCuration MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:601217 alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:ManualMappingCuration MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch OMIM:601223 neuronal intestinal dysplasia, type B semapv:ManualMappingCuration MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch OMIM:601224 potocki-shaffer syndrome semapv:ManualMappingCuration MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch OMIM:601230 dermatitis herpetiformis, familial semapv:ManualMappingCuration MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch OMIM:601238 cerebellar ataxia, cayman type semapv:ManualMappingCuration MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:ManualMappingCuration MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch OMIM:601283 type 2 diabetes mellitus 1 semapv:ManualMappingCuration MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch OMIM:601287 muscular dystrophy, limb-girdle, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0011029 myeloid tumor suppressor skos:exactMatch OMIM:601308 myeloid tumor suppressor semapv:ManualMappingCuration MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:exactMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:ManualMappingCuration MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch OMIM:601316 deafness, autosomal dominant 10 semapv:ManualMappingCuration MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch OMIM:601317 deafness, autosomal dominant 11 semapv:ManualMappingCuration MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch OMIM:601318 type 1 diabetes mellitus 13 semapv:ManualMappingCuration MONDO:0011034 odontomicronychial dysplasia skos:exactMatch OMIM:601319 odontomicronychial dysplasia semapv:ManualMappingCuration MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:ManualMappingCuration MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:ManualMappingCuration MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch OMIM:601331 renal dysplasia, cystic, susceptibility to semapv:ManualMappingCuration MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:ManualMappingCuration MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:ManualMappingCuration MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch OMIM:601344 spinal dysplasia, anhalt type semapv:ManualMappingCuration MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch OMIM:601345 ectodermal dysplasia with natal teeth, turnpenny type semapv:ManualMappingCuration MONDO:0011042 Martinez-Frias syndrome skos:exactMatch OMIM:601346 martinez-frias syndrome semapv:ManualMappingCuration MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch OMIM:601347 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay semapv:ManualMappingCuration MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch OMIM:601348 ectrodactyly of lower limbs, congenital heart defect, and micrognathia semapv:ManualMappingCuration MONDO:0011045 MMEP syndrome skos:exactMatch OMIM:601349 microphthalmia, syndromic 8 semapv:ManualMappingCuration MONDO:0011046 short stature, Brussels type skos:exactMatch OMIM:601350 short stature syndrome, brussels type semapv:ManualMappingCuration MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:ManualMappingCuration MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch OMIM:601352 impaired intellectual development, microcephaly, epilepsy, and coarse face semapv:ManualMappingCuration MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:ManualMappingCuration MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch OMIM:601356 lethal short-limb skeletal dysplasia, al gazali type semapv:ManualMappingCuration MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:ManualMappingCuration MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:ManualMappingCuration MONDO:0011054 autosomal recessive amelia skos:exactMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:ManualMappingCuration MONDO:0011055 distal monosomy 10p skos:exactMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:ManualMappingCuration MONDO:0011056 Wilms tumor 4 skos:exactMatch OMIM:601363 wilms tumor 4 semapv:ManualMappingCuration MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch OMIM:601369 deafness, autosomal dominant 9 semapv:ManualMappingCuration MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:ManualMappingCuration MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch OMIM:601371 cataract, age-related nuclear semapv:ManualMappingCuration MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch OMIM:601372 chorea, remitting, with nystagmus and cataract semapv:ManualMappingCuration MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:ManualMappingCuration MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch OMIM:601375 ectodermal dysplasia, hidrotic, christianson-fourie type semapv:ManualMappingCuration MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:ManualMappingCuration MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:ManualMappingCuration MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch OMIM:601382 charcot-marie-tooth disease, demyelinating, type 4b1 semapv:ManualMappingCuration MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch OMIM:601386 deafness, autosomal recessive 12 semapv:ManualMappingCuration MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch OMIM:601388 type 1 diabetes mellitus 12 semapv:ManualMappingCuration MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch OMIM:601389 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction semapv:ManualMappingCuration MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch OMIM:601390 van maldergem syndrome 1 semapv:ManualMappingCuration MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch OMIM:601407 type 2 diabetes mellitus 2 semapv:ManualMappingCuration MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:ManualMappingCuration MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch OMIM:601412 deafness, autosomal dominant 7 semapv:ManualMappingCuration MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch OMIM:601414 retinitis pigmentosa 18 semapv:ManualMappingCuration MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:ManualMappingCuration MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch OMIM:601420 microcephaly, corpus callosum dysgenesis, and cleft lip/palate semapv:ManualMappingCuration MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch OMIM:601427 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis semapv:ManualMappingCuration MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch OMIM:601438 rhizomelic dysplasia, patterson-lowry type semapv:ManualMappingCuration MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:ManualMappingCuration MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:ManualMappingCuration MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:ManualMappingCuration MONDO:0011083 trichodental syndrome skos:exactMatch OMIM:601453 trichodental dysplasia semapv:ManualMappingCuration MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch OMIM:601454 psoriasis 3, susceptibility to semapv:ManualMappingCuration MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch OMIM:601455 charcot-marie-tooth disease, demyelinating, type 4d semapv:ManualMappingCuration MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:ManualMappingCuration MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch OMIM:601458 inflammatory bowel disease 2 semapv:ManualMappingCuration MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:ManualMappingCuration MONDO:0011089 patent ductus venosus skos:exactMatch OMIM:601466 patent ductus venosus semapv:ManualMappingCuration MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch OMIM:601472 charcot-marie-tooth disease, axonal, type 2d semapv:ManualMappingCuration MONDO:0011092 ribbing disease skos:exactMatch OMIM:601477 ribbing disease semapv:ManualMappingCuration MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch OMIM:601492 mucopolysaccharidosis, type 9 semapv:ManualMappingCuration MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:ManualMappingCuration MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:ManualMappingCuration MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch OMIM:601499 axenfeld-rieger syndrome, type 2 semapv:ManualMappingCuration MONDO:0011098 prostate cancer, hereditary, 1 skos:exactMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:ManualMappingCuration MONDO:0011099 human HOXA1 syndromes skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:ManualMappingCuration MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch OMIM:601537 microcephaly, retinitis pigmentosa, and sutural cataract semapv:ManualMappingCuration MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:ManualMappingCuration MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch OMIM:601543 deafness, autosomal dominant 12 semapv:ManualMappingCuration MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch OMIM:601544 deafness, autosomal dominant 3a semapv:ManualMappingCuration MONDO:0011104 cataract 3 multiple types skos:exactMatch OMIM:601547 cataract 3, multiple types semapv:ManualMappingCuration MONDO:0011105 alacrima, congenital, autosomal recessive skos:exactMatch OMIM:601549 alacrima, congenital, autosomal recessive semapv:ManualMappingCuration MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch OMIM:601552 traboulsi syndrome semapv:ManualMappingCuration MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:ManualMappingCuration MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:ManualMappingCuration MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:ManualMappingCuration MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:ManualMappingCuration MONDO:0011112 Wilms tumor 5 skos:exactMatch OMIM:601583 wilms tumor 5 semapv:ManualMappingCuration MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c semapv:ManualMappingCuration MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch OMIM:601608 spastic paraplegia and evans syndrome semapv:ManualMappingCuration MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:ManualMappingCuration MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch OMIM:601616 iris pigment epithelium anomalies semapv:ManualMappingCuration MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch OMIM:601634 neural tube defects, folate-sensitive semapv:ManualMappingCuration MONDO:0011121 paragangliomas 2 skos:exactMatch OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 semapv:ManualMappingCuration MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch OMIM:601666 type 1 diabetes mellitus 15 semapv:ManualMappingCuration MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:ManualMappingCuration MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:ManualMappingCuration MONDO:0011126 acute insulin response skos:exactMatch OMIM:601676 acute insulin response semapv:ManualMappingCuration MONDO:0011129 glaucoma type 1C skos:exactMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:ManualMappingCuration MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch OMIM:601700 sebaceous gland hyperplasia, familial presenile semapv:ManualMappingCuration MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:ManualMappingCuration MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:ManualMappingCuration MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch OMIM:601706 yemenite deaf-blind hypopigmentation syndrome semapv:ManualMappingCuration MONDO:0011134 Curry-Jones syndrome skos:exactMatch OMIM:601707 curry-jones syndrome semapv:ManualMappingCuration MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch OMIM:601708 superior transverse scapular ligament, calcification of, familial semapv:ManualMappingCuration MONDO:0011136 Quebec platelet disorder skos:exactMatch OMIM:601709 quebec platelet disorder semapv:ManualMappingCuration MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch OMIM:601718 retinitis pigmentosa 19 semapv:ManualMappingCuration MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch OMIM:601744 systemic lupus erythematosus, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch OMIM:601759 preaxial hallucal polydactyly semapv:ManualMappingCuration MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch OMIM:601775 megaloblastic anemia, folate-responsive semapv:ManualMappingCuration MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch OMIM:601777 cone-rod dystrophy 6 semapv:ManualMappingCuration MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch OMIM:601780 ceroid lipofuscinosis, neuronal, 6a semapv:ManualMappingCuration MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch OMIM:601794 coloboma-obesity-hypogenitalism-impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0011146 tetrasomy 12p skos:exactMatch OMIM:601803 pallister-killian syndrome semapv:ManualMappingCuration MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch OMIM:601808 chromosome 18q deletion syndrome semapv:ManualMappingCuration MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch OMIM:601809 spondylospinal thoracic dysostosis semapv:ManualMappingCuration MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch OMIM:601811 premature aging syndrome, okamoto type semapv:ManualMappingCuration MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch OMIM:601812 premature aging syndrome, penttinen type semapv:ManualMappingCuration MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch OMIM:601813 exudative vitreoretinopathy 4 semapv:ManualMappingCuration MONDO:0011152 PHGDH deficiency skos:exactMatch OMIM:601815 phosphoglycerate dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:ManualMappingCuration MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch OMIM:601829 acrofacial dysostosis, palagonia type semapv:ManualMappingCuration MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant semapv:ManualMappingCuration MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:ManualMappingCuration MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:ManualMappingCuration MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch OMIM:601868 deafness, autosomal dominant 13 semapv:ManualMappingCuration MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch OMIM:601869 deafness, autosomal recessive 15 semapv:ManualMappingCuration MONDO:0011161 sperm-specific antigen 1 skos:exactMatch OMIM:601876 sperm-specific antigen 1 semapv:ManualMappingCuration MONDO:0011162 cataract 14 multiple types skos:exactMatch OMIM:601885 cataract 14, multiple types semapv:ManualMappingCuration MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:ManualMappingCuration MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:ManualMappingCuration MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch OMIM:601941 type 1 diabetes mellitus 6 semapv:ManualMappingCuration MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch OMIM:601942 type 1 diabetes mellitus 10 semapv:ManualMappingCuration MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:ManualMappingCuration MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch OMIM:601954 muscular dystrophy, limb-girdle, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:ManualMappingCuration MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch OMIM:601976 otofacioosseous-gonadal syndrome semapv:ManualMappingCuration MONDO:0011173 thrombocythemia 2 skos:exactMatch OMIM:601977 thrombocythemia 2 semapv:ManualMappingCuration MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch OMIM:601979 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia semapv:ManualMappingCuration MONDO:0011175 Friedreich ataxia 2 skos:exactMatch OMIM:601992 friedreich ataxia 2 semapv:ManualMappingCuration MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:ManualMappingCuration MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch OMIM:602032 ectodermal dysplasia 4, hair/nail type semapv:ManualMappingCuration MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:ManualMappingCuration MONDO:0011179 leishmaniasis, tegumentary, susceptibility to skos:exactMatch OMIM:602068 leishmaniasis, tegumentary, susceptibility to semapv:ManualMappingCuration MONDO:0011180 broad terminal phalanges, familial skos:exactMatch OMIM:602071 broad terminal phalanges, familial semapv:ManualMappingCuration MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:ManualMappingCuration MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch OMIM:602080 paget disease of bone 2, early-onset semapv:ManualMappingCuration MONDO:0011184 childhood apraxia of speech skos:exactMatch OMIM:602081 speech-language disorder 1 semapv:ManualMappingCuration MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:602082 corneal dystrophy, thiel-behnke type semapv:ManualMappingCuration MONDO:0011186 Usher syndrome type 1F skos:exactMatch OMIM:602083 usher syndrome, type 1f semapv:ManualMappingCuration MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch OMIM:602085 polydactyly, postaxial, type a2 semapv:ManualMappingCuration MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:ManualMappingCuration MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:ManualMappingCuration MONDO:0011190 nephronophthisis 2 skos:exactMatch OMIM:602088 nephronophthisis 2 semapv:ManualMappingCuration MONDO:0011191 capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:ManualMappingCuration MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch OMIM:602092 deafness, autosomal recessive 18a semapv:ManualMappingCuration MONDO:0011193 cone dystrophy 3 skos:exactMatch OMIM:602093 cone dystrophy 3 semapv:ManualMappingCuration MONDO:0011194 Alzheimer disease 5 skos:exactMatch OMIM:602096 alzheimer disease 5 semapv:ManualMappingCuration MONDO:0011195 Usher syndrome type 1E skos:exactMatch OMIM:602097 usher syndrome, type 1e semapv:ManualMappingCuration MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:ManualMappingCuration MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:ManualMappingCuration MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri type semapv:ManualMappingCuration MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch OMIM:602114 nephropathy, progressive tubulointerstitial, with cholestatic liver disease semapv:ManualMappingCuration MONDO:0011200 torsion dystonia 7 skos:exactMatch OMIM:602124 dystonia 7, torsion semapv:ManualMappingCuration MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch OMIM:602134 tremor, hereditary essential, 2 semapv:ManualMappingCuration MONDO:0011202 RHYNS syndrome skos:exactMatch OMIM:602152 RHYNS syndrome semapv:ManualMappingCuration MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:ManualMappingCuration MONDO:0011204 obsolete cerebellar degeneration-related autoantigen 3 skos:exactMatch OMIM:602197 cerebellar degeneration-related autoantigen 3 semapv:ManualMappingCuration MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:ManualMappingCuration MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch OMIM:602200 ventriculomegaly with defects of the radius and kidney semapv:ManualMappingCuration MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch OMIM:602247 xanthomatosis, susceptibility to semapv:ManualMappingCuration MONDO:0011208 malignant atrophic papulosis skos:exactMatch OMIM:602248 malignant atrophic papulosis semapv:ManualMappingCuration MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch OMIM:602249 progeroid facial appearance with hand anomalies semapv:ManualMappingCuration MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of skos:exactMatch OMIM:602252 mitochondrial intermembrane space protein tim12, yeast, homolog of semapv:ManualMappingCuration MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:ManualMappingCuration MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch OMIM:602340 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth semapv:ManualMappingCuration MONDO:0011213 Pierpont syndrome skos:exactMatch OMIM:602342 pierpont syndrome semapv:ManualMappingCuration MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:ManualMappingCuration MONDO:0011215 osteocraniostenosis skos:exactMatch OMIM:602361 gracile bone dysplasia semapv:ManualMappingCuration MONDO:0011216 hemochromatosis type 2A skos:exactMatch OMIM:602390 hemochromatosis, type 2a semapv:ManualMappingCuration MONDO:0011217 desmosterolosis skos:exactMatch OMIM:602398 desmosterolosis semapv:ManualMappingCuration MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:ManualMappingCuration MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail type semapv:ManualMappingCuration MONDO:0011220 Parkinson disease 3, autosomal dominant skos:exactMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:ManualMappingCuration MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch OMIM:602418 weyers ulnar ray/oligodactyly syndrome semapv:ManualMappingCuration MONDO:0011222 obsolete glaucoma 1, open angle, D skos:exactMatch OMIM:602429 glaucoma 1, open angle, d semapv:ManualMappingCuration MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:ManualMappingCuration MONDO:0011224 monomelic amyotrophy skos:exactMatch OMIM:602440 amyotrophy, monomelic semapv:ManualMappingCuration MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:ManualMappingCuration MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch OMIM:602459 deafness, autosomal dominant 15 semapv:ManualMappingCuration MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:ManualMappingCuration MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch OMIM:602472 creases, infra-auricular cutaneous, with tall stature and advanced bone age semapv:ManualMappingCuration MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch OMIM:602473 encephalopathy, ethylmalonic semapv:ManualMappingCuration MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:ManualMappingCuration MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:ManualMappingCuration MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch OMIM:602482 axenfeld-rieger syndrome, type 3 semapv:ManualMappingCuration MONDO:0011234 auriculocondylar syndrome 1 skos:exactMatch OMIM:602483 auriculocondylar syndrome 1 semapv:ManualMappingCuration MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:ManualMappingCuration MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:ManualMappingCuration MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:ManualMappingCuration MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:ManualMappingCuration MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:ManualMappingCuration MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch OMIM:602511 pseudoacromegaly with severe insulin resistance semapv:ManualMappingCuration MONDO:0011242 Bartter disease type 4A skos:exactMatch OMIM:602522 bartter syndrome, type 4a, neonatal, with sensorineural deafness semapv:ManualMappingCuration MONDO:0011243 grange syndrome skos:exactMatch OMIM:602531 grange syndrome semapv:ManualMappingCuration MONDO:0011244 Marshall-Smith syndrome skos:exactMatch OMIM:602535 marshall-smith syndrome semapv:ManualMappingCuration MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:ManualMappingCuration MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch OMIM:602541 muscular dystrophy, congenital, megaconial type semapv:ManualMappingCuration MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch OMIM:602551 jejunal atresia with renal adysplasia semapv:ManualMappingCuration MONDO:0011248 distal monosomy 13q skos:exactMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:ManualMappingCuration MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch OMIM:602554 torsion dystonia with onset 1n infancy semapv:ManualMappingCuration MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch OMIM:602555 microcephaly, macrotia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch OMIM:602556 facial dysmorphism, cleft palate, hearing loss, and camptodactyly semapv:ManualMappingCuration MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch OMIM:602557 spondyloepimetaphyseal dysplasia, shohat type semapv:ManualMappingCuration MONDO:0011253 craniomicromelic syndrome skos:exactMatch OMIM:602558 craniomicromelic syndrome semapv:ManualMappingCuration MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch OMIM:602561 brachydactyly, intraventricular septal defect, and deafness semapv:ManualMappingCuration MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:ManualMappingCuration MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch OMIM:602564 emphysema, congenital, with deafness, penoscrotal web, and intellectual developmental disorder semapv:ManualMappingCuration MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch OMIM:602579 congenital disorder of glycosylation, type ib semapv:ManualMappingCuration MONDO:0011258 branchiootic syndrome 1 skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:ManualMappingCuration MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch OMIM:602594 retinitis pigmentosa 22 semapv:ManualMappingCuration MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch OMIM:602596 pancreatic lymphoma, familial semapv:ManualMappingCuration MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch OMIM:602611 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development semapv:ManualMappingCuration MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch OMIM:602612 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye semapv:ManualMappingCuration MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch OMIM:602613 skeletal dysplasia and progressive central nervous system degeneration, lethal semapv:ManualMappingCuration MONDO:0011264 torsion dystonia 6 skos:exactMatch OMIM:602629 dystonia 6, torsion semapv:ManualMappingCuration MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch OMIM:602639 tooth agenesis, selective, 2 semapv:ManualMappingCuration MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch OMIM:602668 myotonic dystrophy 2 semapv:ManualMappingCuration MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch OMIM:602685 intellectual developmental disorder with spasticity and pigmentary tapetoretinal degeneration semapv:ManualMappingCuration MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:ManualMappingCuration MONDO:0011269 psoriasis 2 skos:exactMatch OMIM:602723 psoriasis 2 semapv:ManualMappingCuration MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:ManualMappingCuration MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:ManualMappingCuration MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch OMIM:602772 retinitis pigmentosa 25 semapv:ManualMappingCuration MONDO:0011273 H syndrome skos:exactMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:ManualMappingCuration MONDO:0011274 Muenke syndrome skos:exactMatch OMIM:602849 muenke syndrome semapv:ManualMappingCuration MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch OMIM:602875 acromesomelic dysplasia 1 semapv:ManualMappingCuration MONDO:0011276 orofacial cleft 2 skos:exactMatch OMIM:602966 orofacial cleft 2 semapv:ManualMappingCuration MONDO:0011277 obsolete leukoregulin skos:exactMatch OMIM:602994 leukoregulin semapv:ManualMappingCuration MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch OMIM:603010 deafness, autosomal recessive 17 semapv:ManualMappingCuration MONDO:0011280 schizophrenia 6 skos:exactMatch OMIM:603013 schizophrenia 6 semapv:ManualMappingCuration MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:ManualMappingCuration MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:ManualMappingCuration MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:ManualMappingCuration MONDO:0011284 astigmatism skos:exactMatch OMIM:603047 astigmatism semapv:ManualMappingCuration MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:603075 macular degeneration, age-related, 1 semapv:ManualMappingCuration MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch OMIM:603098 deafness, autosomal recessive 13 semapv:ManualMappingCuration MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:603116 cdags syndrome semapv:ManualMappingCuration MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch OMIM:603117 spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal semapv:ManualMappingCuration MONDO:0011289 apraxia of eyelid opening skos:exactMatch OMIM:603119 apraxia of eyelid opening semapv:ManualMappingCuration MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch OMIM:603133 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and impaired intellectual development semapv:ManualMappingCuration MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch OMIM:603147 congenital disorder of glycosylation, type ic semapv:ManualMappingCuration MONDO:0011294 schizophrenia 5 skos:exactMatch OMIM:603175 schizophrenia 5 semapv:ManualMappingCuration MONDO:0011295 schizophrenia 7 skos:exactMatch OMIM:603176 schizophrenia 7 semapv:ManualMappingCuration MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch OMIM:603194 meckel syndrome, type 2 semapv:ManualMappingCuration MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:ManualMappingCuration MONDO:0011298 schizophrenia 8 skos:exactMatch OMIM:603206 schizophrenia 8 semapv:ManualMappingCuration MONDO:0011299 Huntington disease-like 1 skos:exactMatch OMIM:603218 huntington disease-like 1 semapv:ManualMappingCuration MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch OMIM:603221 myopia 3, autosomal dominant semapv:ManualMappingCuration MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch OMIM:603233 pseudohypoparathyroidism, type 1b semapv:ManualMappingCuration MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch OMIM:603266 type 1 diabetes mellitus 17 semapv:ManualMappingCuration MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:ManualMappingCuration MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch OMIM:603284 cerebral cavernous malformations 2 semapv:ManualMappingCuration MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch OMIM:603285 cerebral cavernous malformations 3 semapv:ManualMappingCuration MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch OMIM:603323 muscular dystrophy, congenital, with cerebellar atrophy semapv:ManualMappingCuration MONDO:0011307 schizophrenia 2 skos:exactMatch OMIM:603342 schizophrenia 2 semapv:ManualMappingCuration MONDO:0011308 GRACILE syndrome skos:exactMatch OMIM:603358 gracile syndrome semapv:ManualMappingCuration MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch OMIM:603373 hyperthyroidism, familial gestational semapv:ManualMappingCuration MONDO:0011310 long chain fatty acids, defect in transport of skos:exactMatch OMIM:603376 long chain fatty acids, defect 1n transport of semapv:ManualMappingCuration MONDO:0011311 obsolete glaucoma 1, open angle, F skos:exactMatch OMIM:603383 glaucoma 1, open angle, f semapv:ManualMappingCuration MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:ManualMappingCuration MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:ManualMappingCuration MONDO:0011314 Graves disease, susceptibility to, 2 skos:exactMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch OMIM:603389 osebold skeletal dysplasia/osteolysis syndrome semapv:ManualMappingCuration MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch OMIM:603393 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions semapv:ManualMappingCuration MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch OMIM:603394 microcephaly, severe, with skeletal anomalies including posterior rib-gap defects semapv:ManualMappingCuration MONDO:0011318 Tonoki syndrome skos:exactMatch OMIM:603396 tonoki syndrome semapv:ManualMappingCuration MONDO:0011319 obsolete activator of liver function 1 skos:exactMatch OMIM:603416 ribosomal protein l21 pseudogene 1 semapv:ManualMappingCuration MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch OMIM:603438 tsukahara syndrome semapv:ManualMappingCuration MONDO:0011321 expansile bone lesions skos:exactMatch OMIM:603439 expansile bone lesions semapv:ManualMappingCuration MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch OMIM:603446 oroacral syndrome, verloes-koulischer type semapv:ManualMappingCuration MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:ManualMappingCuration MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch OMIM:603467 fanconi anemia, complementation group f semapv:ManualMappingCuration MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch OMIM:603471 citrin deficiency, adolescent or adult onset semapv:ManualMappingCuration MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:ManualMappingCuration MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch OMIM:603516 spinocerebellar ataxia 10 semapv:ManualMappingCuration MONDO:0011331 congenital chylothorax skos:exactMatch OMIM:603523 chylothorax, congenital semapv:ManualMappingCuration MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin semapv:ManualMappingCuration MONDO:0011334 limb-mammary syndrome skos:exactMatch OMIM:603543 limb-mammary syndrome semapv:ManualMappingCuration MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, type 2 semapv:ManualMappingCuration MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:ManualMappingCuration MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:ManualMappingCuration MONDO:0011338 Omenn syndrome skos:exactMatch OMIM:603554 omenn syndrome semapv:ManualMappingCuration MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:ManualMappingCuration MONDO:0011340 congenital tracheal stenosis skos:exactMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:ManualMappingCuration MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch OMIM:603572 microcephaly, facial abnormalities, micromelia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch OMIM:603585 congenital disorder of glycosylation, type iif semapv:ManualMappingCuration MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch OMIM:603587 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts semapv:ManualMappingCuration MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch OMIM:603588 parotitis, juvenile recurrent semapv:ManualMappingCuration MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification semapv:ManualMappingCuration MONDO:0011346 xanthinuria type II skos:exactMatch OMIM:603592 xanthinuria, type 2 semapv:ManualMappingCuration MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch OMIM:603595 craniosynostosis with ectopia lentis semapv:ManualMappingCuration MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch OMIM:603600 osteoma of cranial vault, familial semapv:ManualMappingCuration MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch OMIM:603622 deafness, autosomal dominant 17 semapv:ManualMappingCuration MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch OMIM:603629 deafness, autosomal recessive 21 semapv:ManualMappingCuration MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch OMIM:603641 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia semapv:ManualMappingCuration MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch OMIM:603642 atrial septal defect, secundum, with various cardiac and noncardiac defects semapv:ManualMappingCuration MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch OMIM:603643 situs inversus totalis with cystic dysplasia of kidneys and pancreas semapv:ManualMappingCuration MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch OMIM:603649 cone-rod dystrophy 7 semapv:ManualMappingCuration MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch OMIM:603656 exostosis, dupuytren subungual semapv:ManualMappingCuration MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch OMIM:603669 eccrine syringofibroadenomatosis with eyelid abnormalities semapv:ManualMappingCuration MONDO:0011358 blue nevi, familial multiple skos:exactMatch OMIM:603670 blue nevi, familial multiple semapv:ManualMappingCuration MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch OMIM:603671 acromelic frontonasal dysostosis semapv:ManualMappingCuration MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch OMIM:603678 deafness, autosomal recessive 14 semapv:ManualMappingCuration MONDO:0011361 prostate cancer/brain cancer susceptibility skos:exactMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:ManualMappingCuration MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure semapv:ManualMappingCuration MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch OMIM:603694 type 2 diabetes mellitus 3 semapv:ManualMappingCuration MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch OMIM:603720 deafness, autosomal recessive 16 semapv:ManualMappingCuration MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:ManualMappingCuration MONDO:0011366 ovarian germ cell tumor skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:ManualMappingCuration MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia semapv:ManualMappingCuration MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch OMIM:603744 papillary thyroid microcarcinoma semapv:ManualMappingCuration MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:ManualMappingCuration MONDO:0011370 Stargardt disease 4 skos:exactMatch OMIM:603786 stargardt disease 4 semapv:ManualMappingCuration MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch OMIM:603794 hydroa vacciniforme, familial semapv:ManualMappingCuration MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 microcephaly with simplified gyral pattern semapv:ManualMappingCuration MONDO:0011373 urinary tract infections, recurrent, susceptibility to skos:exactMatch OMIM:603806 urinary tract infections, recurrent, susceptibility to semapv:ManualMappingCuration MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:ManualMappingCuration MONDO:0011375 brittle bone disorder skos:exactMatch OMIM:603828 brittle bone disorder semapv:ManualMappingCuration MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:ManualMappingCuration MONDO:0011377 long QT syndrome 3 skos:exactMatch OMIM:603830 long qt syndrome 3 semapv:ManualMappingCuration MONDO:0011378 obsolete CFM1 skos:exactMatch OMIM:603855 cystic fibrosis, modifier of, 1 semapv:ManualMappingCuration MONDO:0011381 dominant beta-thalassemia skos:exactMatch OMIM:603902 beta-thalassemia, dominant inclusion body type semapv:ManualMappingCuration MONDO:0011382 sickle cell disease skos:exactMatch OMIM:603903 sickle cell disease semapv:ManualMappingCuration MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch OMIM:603909 autoimmune lymphoproliferative syndrome, type 2a semapv:ManualMappingCuration MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:exactMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:ManualMappingCuration MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:exactMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch OMIM:603935 psoriasis 4, susceptibility to semapv:ManualMappingCuration MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch OMIM:603964 deafness, autosomal dominant 16 semapv:ManualMappingCuration MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:ManualMappingCuration MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch OMIM:604060 deafness, autosomal recessive 20 semapv:ManualMappingCuration MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:ManualMappingCuration MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch OMIM:604116 cone-rod dystrophy 3 semapv:ManualMappingCuration MONDO:0011396 loricrin keratoderma skos:exactMatch OMIM:604117 vohwinkel syndrome, variant form semapv:ManualMappingCuration MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:ManualMappingCuration MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:ManualMappingCuration MONDO:0011399 alpha thalassemia spectrum skos:exactMatch OMIM:604131 alpha-thalassemia semapv:ManualMappingCuration MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:ManualMappingCuration MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch OMIM:604154 alzheimer disease 15 semapv:ManualMappingCuration MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:ManualMappingCuration MONDO:0011403 left ventricular noncompaction 1 skos:exactMatch OMIM:604169 left ventricular noncompaction 1 semapv:ManualMappingCuration MONDO:0011404 Caronte skos:exactMatch OMIM:604172 caronte semapv:ManualMappingCuration MONDO:0011405 poikiloderma with neutropenia skos:exactMatch OMIM:604173 poikiloderma with neutropenia semapv:ManualMappingCuration MONDO:0011406 cholesteatoma, congenital skos:exactMatch OMIM:604183 cholesteatoma, congenital semapv:ManualMappingCuration MONDO:0011407 facial paresis, hereditary congenital, 2 skos:exactMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:ManualMappingCuration MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:ManualMappingCuration MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:exactMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:ManualMappingCuration MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch OMIM:604211 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly semapv:ManualMappingCuration MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch OMIM:604213 chudley-mccullough syndrome semapv:ManualMappingCuration MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:ManualMappingCuration MONDO:0011413 cataract 9 multiple types skos:exactMatch OMIM:604219 cataract 9, multiple types semapv:ManualMappingCuration MONDO:0011414 Peters anomaly skos:exactMatch OMIM:604229 anterior segment dysgenesis 5 semapv:ManualMappingCuration MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch OMIM:604232 leber congenital amaurosis 3 semapv:ManualMappingCuration MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch OMIM:604233 generalized epilepsy with febrile seizures plus, type 1 semapv:ManualMappingCuration MONDO:0011417 hemochromatosis type 3 skos:exactMatch OMIM:604250 hemochromatosis, type 3 semapv:ManualMappingCuration MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch OMIM:604257 camera-marugo-cohen syndrome semapv:ManualMappingCuration MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch OMIM:604271 growth hormone insensitivity, partial semapv:ManualMappingCuration MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1 semapv:ManualMappingCuration MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch OMIM:604278 proximal renal tubular acidosis-ocular anomaly syndrome semapv:ManualMappingCuration MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:ManualMappingCuration MONDO:0011424 Carney triad skos:exactMatch OMIM:604287 carney triad semapv:ManualMappingCuration MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:ManualMappingCuration MONDO:0011426 aceruloplasminemia skos:exactMatch OMIM:604290 aceruloplasminemia semapv:ManualMappingCuration MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:exactMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:ManualMappingCuration MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:ManualMappingCuration MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:ManualMappingCuration MONDO:0011431 MASS syndrome skos:exactMatch OMIM:604308 mass syndrome semapv:ManualMappingCuration MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch OMIM:604314 blepharophimosis with facial and genital anomalies and impaired intellectual development semapv:ManualMappingCuration MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch OMIM:604315 anemia, congenital hypoplastic, with multiple congenital anomalies/impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch OMIM:604316 psoriasis 5, susceptibility to semapv:ManualMappingCuration MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations semapv:ManualMappingCuration MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch OMIM:604320 neuronopathy, distal hereditary motor, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch OMIM:604321 microcephaly 4, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch OMIM:604326 spinocerebellar ataxia 12 semapv:ManualMappingCuration MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:exactMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch OMIM:604335 reflex sympathetic dystrophy semapv:ManualMappingCuration MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:ManualMappingCuration MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch OMIM:604352 febrile seizures, familial, 4 semapv:ManualMappingCuration MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 duane retraction syndrome 2 semapv:ManualMappingCuration MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:ManualMappingCuration MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch OMIM:604363 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders semapv:ManualMappingCuration MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch OMIM:604367 lipodystrophy, familial partial, type 3 semapv:ManualMappingCuration MONDO:0011449 Salla disease skos:exactMatch OMIM:604369 salla disease semapv:ManualMappingCuration MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear type 2 semapv:ManualMappingCuration MONDO:0011452 hypotrichosis 7 skos:exactMatch OMIM:604379 hypotrichosis 7 semapv:ManualMappingCuration MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch OMIM:604380 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia semapv:ManualMappingCuration MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:ManualMappingCuration MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch OMIM:604382 lissencephaly, familial, with cleft palate and cerebellar hypoplasia semapv:ManualMappingCuration MONDO:0011456 nephronophthisis 3 skos:exactMatch OMIM:604387 nephronophthisis 3 semapv:ManualMappingCuration MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch OMIM:604393 leber congenital amaurosis 4 semapv:ManualMappingCuration MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:ManualMappingCuration MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:ManualMappingCuration MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, type 2 semapv:ManualMappingCuration MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:ManualMappingCuration MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch OMIM:604431 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive semapv:ManualMappingCuration MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch OMIM:604432 spinocerebellar ataxia 11 semapv:ManualMappingCuration MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:ManualMappingCuration MONDO:0011466 distal myopathy, Welander type skos:exactMatch OMIM:604454 welander distal myopathy semapv:ManualMappingCuration MONDO:0011467 obsolete human herpesvirus type 6, integrated skos:exactMatch OMIM:604474 human herpesvirus type 6, integrated semapv:ManualMappingCuration MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa type semapv:ManualMappingCuration MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:ManualMappingCuration MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch OMIM:604519 inflammatory bowel disease 3 semapv:ManualMappingCuration MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:ManualMappingCuration MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch OMIM:604537 leber congenital amaurosis 5 semapv:ManualMappingCuration MONDO:0011474 progressive familial heart block type IB skos:exactMatch OMIM:604559 progressive familial heart block, type 1b semapv:ManualMappingCuration MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 semapv:ManualMappingCuration MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch OMIM:604625 tooth agenesis, selective, 3 semapv:ManualMappingCuration MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:ManualMappingCuration MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch OMIM:604715 orthostatic intolerance semapv:ManualMappingCuration MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch OMIM:604717 deafness, autosomal dominant 20 semapv:ManualMappingCuration MONDO:0011481 craniosynostosis 2 skos:exactMatch OMIM:604757 craniosynostosis 2 semapv:ManualMappingCuration MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:ManualMappingCuration MONDO:0011483 polycystic bone disease skos:exactMatch OMIM:604771 polycystic bone disease semapv:ManualMappingCuration MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:ManualMappingCuration MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:ManualMappingCuration MONDO:0011487 Huntington disease-like 3 skos:exactMatch OMIM:604802 huntington disease-like 3 semapv:ManualMappingCuration MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch OMIM:604804 microcephaly 3, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:ManualMappingCuration MONDO:0011490 diffuse panbronchiolitis skos:exactMatch OMIM:604809 panbronchiolitis, diffuse semapv:ManualMappingCuration MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch OMIM:604830 mandibulofacial dysostosis syndrome, bauru type semapv:ManualMappingCuration MONDO:0011493 Stickler syndrome type 2 skos:exactMatch OMIM:604841 stickler syndrome, type 2 semapv:ManualMappingCuration MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch OMIM:604855 hyaluronan metabolism, defect 1n semapv:ManualMappingCuration MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:ManualMappingCuration MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch OMIM:604901 north american indian childhood cirrhosis semapv:ManualMappingCuration MONDO:0011498 schizophrenia 9 skos:exactMatch OMIM:604906 schizophrenia 9 semapv:ManualMappingCuration MONDO:0011500 Becker nevus syndrome skos:exactMatch OMIM:604919 becker nevus syndrome semapv:ManualMappingCuration MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:ManualMappingCuration MONDO:0011502 Wolfram syndrome 2 skos:exactMatch OMIM:604928 wolfram syndrome 2 semapv:ManualMappingCuration MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch OMIM:604931 cortisone reductase deficiency 1 semapv:ManualMappingCuration MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch OMIM:605013 microhydranencephaly semapv:ManualMappingCuration MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:ManualMappingCuration MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:ManualMappingCuration MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch OMIM:605026 diabetes mellitus, congenital autoimmune semapv:ManualMappingCuration MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:ManualMappingCuration MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:exactMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:ManualMappingCuration MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch OMIM:605039 bohring-opitz syndrome semapv:ManualMappingCuration MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:ManualMappingCuration MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch OMIM:605041 brooke-spiegler syndrome semapv:ManualMappingCuration MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch OMIM:605055 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology semapv:ManualMappingCuration MONDO:0011514 tricuspid atresia skos:exactMatch OMIM:605067 tricuspid atresia semapv:ManualMappingCuration MONDO:0011516 early response to neural induction gene skos:exactMatch OMIM:605105 early response to neural induction gene semapv:ManualMappingCuration MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch OMIM:605115 hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy semapv:ManualMappingCuration MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch OMIM:605130 wiedemann-steiner syndrome semapv:ManualMappingCuration MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch OMIM:605192 deafness, autosomal dominant 23 semapv:ManualMappingCuration MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch OMIM:605218 systemic lupus erythematosus, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch OMIM:605225 inflammatory bowel disease 7 semapv:ManualMappingCuration MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch OMIM:605229 spastic paraplegia 14, autosomal recessive semapv:ManualMappingCuration MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch OMIM:605231 bardet-biedl syndrome 6 semapv:ManualMappingCuration MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch OMIM:605233 dianzani autoimmune lymphoproliferative disease semapv:ManualMappingCuration MONDO:0011525 Carney complex type 2 skos:exactMatch OMIM:605244 carney complex, type 2 semapv:ManualMappingCuration MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:ManualMappingCuration MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch OMIM:605258 immunodeficiency with hyper-igm, type 2 semapv:ManualMappingCuration MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch OMIM:605259 spinocerebellar ataxia 13 semapv:ManualMappingCuration MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch OMIM:605274 mesomelic dysplasia, savarirayan type semapv:ManualMappingCuration MONDO:0011531 Noonan syndrome 2 skos:exactMatch OMIM:605275 noonan syndrome 2 semapv:ManualMappingCuration MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:ManualMappingCuration MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:ManualMappingCuration MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch OMIM:605285 neuropathy, hereditary motor and sensory, russe type semapv:ManualMappingCuration MONDO:0011535 split hand-foot malformation 4 skos:exactMatch OMIM:605289 split-hand/foot malformation 4 semapv:ManualMappingCuration MONDO:0011536 optic atrophy 4 skos:exactMatch OMIM:605293 optic atrophy 4 semapv:ManualMappingCuration MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch OMIM:605309 macrocephaly/autism syndrome semapv:ManualMappingCuration MONDO:0011538 frontoocular syndrome skos:exactMatch OMIM:605321 frontoocular syndrome semapv:ManualMappingCuration MONDO:0011539 nemaline myopathy 5 skos:exactMatch OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile semapv:ManualMappingCuration MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch OMIM:605361 spinocerebellar ataxia 14 semapv:ManualMappingCuration MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:ManualMappingCuration MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch OMIM:605364 psoriasis 6, susceptibility to semapv:ManualMappingCuration MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:ManualMappingCuration MONDO:0011544 paragangliomas 3 skos:exactMatch OMIM:605373 pheochromocytoma/paraganglioma syndrome 3 semapv:ManualMappingCuration MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:ManualMappingCuration MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:ManualMappingCuration MONDO:0011547 cataract 31 multiple types skos:exactMatch OMIM:605387 cataract 31, multiple types semapv:ManualMappingCuration MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:ManualMappingCuration MONDO:0011549 hypotrichosis 1 skos:exactMatch OMIM:605389 hypotrichosis 1 semapv:ManualMappingCuration MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch OMIM:605400 fibromatosis, gingival, with hypertrichosis and impaired intellectual development semapv:ManualMappingCuration MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0011552 schizophrenia 10 skos:exactMatch OMIM:605419 schizophrenia 10 semapv:ManualMappingCuration MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch OMIM:605428 deafness, autosomal recessive 26 semapv:ManualMappingCuration MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:ManualMappingCuration MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:exactMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0011558 Usher syndrome type 2C skos:exactMatch OMIM:605472 usher syndrome, type 2c semapv:ManualMappingCuration MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:ManualMappingCuration MONDO:0011560 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011561 Alzheimer disease 6 skos:exactMatch OMIM:605526 alzheimer disease 6 semapv:ManualMappingCuration MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:ManualMappingCuration MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch OMIM:605544 fibromatosis, gingival, 2 semapv:ManualMappingCuration MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch OMIM:605549 cone-rod dystrophy 8 semapv:ManualMappingCuration MONDO:0011565 metabolic syndrome X skos:exactMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:ManualMappingCuration MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:ManualMappingCuration MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:ManualMappingCuration MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch OMIM:605583 deafness, autosomal dominant 25 semapv:ManualMappingCuration MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch OMIM:605588 charcot-marie-tooth disease, axonal, type 2b1 semapv:ManualMappingCuration MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch OMIM:605589 charcot-marie-tooth disease, axonal, type 2b2 semapv:ManualMappingCuration MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:ManualMappingCuration MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch OMIM:605598 type 1 diabetes mellitus 18 semapv:ManualMappingCuration MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch OMIM:605606 psoriasis 7, susceptibility to semapv:ManualMappingCuration MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch OMIM:605618 tetralogy of fallot syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch OMIM:605627 cerebrooculonasal syndrome semapv:ManualMappingCuration MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch OMIM:605635 hyperaldosteronism, familial, type 2 semapv:ManualMappingCuration MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:ManualMappingCuration MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:ManualMappingCuration MONDO:0011579 late-onset retinal degeneration skos:exactMatch OMIM:605670 late-onset retinal degeneration semapv:ManualMappingCuration MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch OMIM:605672 cerebellar ataxia and hypergonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:ManualMappingCuration MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 semapv:ManualMappingCuration MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:ManualMappingCuration MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:ManualMappingCuration MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch OMIM:605726 neuronopathy, distal hereditary motor, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0011586 otosclerosis 2 skos:exactMatch OMIM:605727 otosclerosis 2 semapv:ManualMappingCuration MONDO:0011587 cataract 25 skos:exactMatch OMIM:605728 cataract 25 semapv:ManualMappingCuration MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:ManualMappingCuration MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch OMIM:605738 microphthalmia/coloboma 2 semapv:ManualMappingCuration MONDO:0011590 anisomastia skos:exactMatch OMIM:605746 anisomastia semapv:ManualMappingCuration MONDO:0011591 cataract 26 multiple types skos:exactMatch OMIM:605749 cataract 26, multiple types semapv:ManualMappingCuration MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch OMIM:605750 exudative vitreoretinopathy 3 semapv:ManualMappingCuration MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:ManualMappingCuration MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:ManualMappingCuration MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:ManualMappingCuration MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch OMIM:605803 dermatitis, atopic, 2 semapv:ManualMappingCuration MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch OMIM:605804 dermatitis, atopic, 3 semapv:ManualMappingCuration MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch OMIM:605805 dermatitis, atopic, 4 semapv:ManualMappingCuration MONDO:0011599 birdshot chorioretinopathy skos:exactMatch OMIM:605808 birdshot chorioretinopathy semapv:ManualMappingCuration MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:ManualMappingCuration MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch OMIM:605814 citrin deficiency, neonatal or infantile onset semapv:ManualMappingCuration MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch OMIM:605818 deafness, autosomal recessive 27 semapv:ManualMappingCuration MONDO:0011603 GNE myopathy skos:exactMatch OMIM:605820 nonaka myopathy semapv:ManualMappingCuration MONDO:0011604 spondylo-ocular syndrome skos:exactMatch OMIM:605822 spondyloocular syndrome semapv:ManualMappingCuration MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:ManualMappingCuration MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch OMIM:605838 baby rattle pelvis dysplasia semapv:ManualMappingCuration MONDO:0011607 narcolepsy 2, susceptibility to skos:exactMatch OMIM:605841 narcolepsy 2, susceptibility to semapv:ManualMappingCuration MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch OMIM:605844 dermatitis, atopic, 5 semapv:ManualMappingCuration MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch OMIM:605845 dermatitis, atopic, 6 semapv:ManualMappingCuration MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting semapv:ManualMappingCuration MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:ManualMappingCuration MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:ManualMappingCuration MONDO:0011615 East Texas bleeding disorder skos:exactMatch OMIM:605913 bleeding disorder, east texas type semapv:ManualMappingCuration MONDO:0011616 holoprosencephaly 6 skos:exactMatch OMIM:605934 holoprosencephaly 6 semapv:ManualMappingCuration MONDO:0011617 arthropathy, erosive skos:exactMatch OMIM:605935 arthropathy, erosive semapv:ManualMappingCuration MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch OMIM:605944 liver fibrocystic disease and polydactyly semapv:ManualMappingCuration MONDO:0011619 crumpled helices and small mouth skos:exactMatch OMIM:605945 crumpled helices and small mouth semapv:ManualMappingCuration MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch OMIM:605946 metaphyseal dysplasia, braun-tinschert type semapv:ManualMappingCuration MONDO:0011621 acropectoral syndrome skos:exactMatch OMIM:605967 acropectoral syndrome semapv:ManualMappingCuration MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:exactMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:ManualMappingCuration MONDO:0011624 transaldolase deficiency skos:exactMatch OMIM:606003 transaldolase deficiency semapv:ManualMappingCuration MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch OMIM:606012 deafness, autosomal dominant 18 semapv:ManualMappingCuration MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:ManualMappingCuration MONDO:0011627 autism, susceptibility to, 5 skos:exactMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:ManualMappingCuration MONDO:0011628 propionic acidemia skos:exactMatch OMIM:606054 propionic acidemia semapv:ManualMappingCuration MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch OMIM:606056 congenital disorder of glycosylation, type iib semapv:ManualMappingCuration MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch OMIM:606068 retinitis pigmentosa 28 semapv:ManualMappingCuration MONDO:0011631 hemochromatosis type 4 skos:exactMatch OMIM:606069 hemochromatosis, type 4 semapv:ManualMappingCuration MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:ManualMappingCuration MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch OMIM:606071 hereditary motor and sensory neuropathy, type 2c semapv:ManualMappingCuration MONDO:0011635 goiter, multinodular 3 skos:exactMatch OMIM:606082 goiter, multinodular 3 semapv:ManualMappingCuration MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch OMIM:606129 diamond-blackfan anemia 2 semapv:ManualMappingCuration MONDO:0011637 Sener syndrome skos:exactMatch OMIM:606156 sener syndrome semapv:ManualMappingCuration MONDO:0011638 neuroferritinopathy skos:exactMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:ManualMappingCuration MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis semapv:ManualMappingCuration MONDO:0011640 genitopatellar syndrome skos:exactMatch OMIM:606170 genitopatellar syndrome semapv:ManualMappingCuration MONDO:0011641 baculum, congenital absence of skos:exactMatch OMIM:606174 baculum, congenital absence of semapv:ManualMappingCuration MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch OMIM:606175 carnitine acetyltransferase deficiency semapv:ManualMappingCuration MONDO:0011644 pars planitis skos:exactMatch OMIM:606177 pars planitis semapv:ManualMappingCuration MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch OMIM:606183 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy semapv:ManualMappingCuration MONDO:0011647 Alzheimer disease 7 skos:exactMatch OMIM:606187 alzheimer disease 7 semapv:ManualMappingCuration MONDO:0011648 radiation-induced meningioma skos:exactMatch OMIM:606190 meningioma, radiation-induced semapv:ManualMappingCuration MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:ManualMappingCuration MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch OMIM:606232 phelan-mcdermid syndrome semapv:ManualMappingCuration MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:exactMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:ManualMappingCuration MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch OMIM:606242 kondoh syndrome semapv:ManualMappingCuration MONDO:0011655 alveolar soft part sarcoma skos:exactMatch OMIM:606243 alveolar soft part sarcoma semapv:ManualMappingCuration MONDO:0011656 paget disease of bone 4 skos:exactMatch OMIM:606263 paget disease of bone 4 semapv:ManualMappingCuration MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch OMIM:606282 deafness, autosomal dominant 24 semapv:ManualMappingCuration MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:ManualMappingCuration MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch OMIM:606325 heterotaxy, visceral, 3, autosomal semapv:ManualMappingCuration MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch OMIM:606346 deafness, autosomal dominant 22 semapv:ManualMappingCuration MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch OMIM:606348 inflammatory bowel disease 5 semapv:ManualMappingCuration MONDO:0011662 pathological gambling skos:exactMatch OMIM:606349 gambling, pathologic semapv:ManualMappingCuration MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:ManualMappingCuration MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:ManualMappingCuration MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch OMIM:606392 maturity-onset diabetes of the young, type 4 semapv:ManualMappingCuration MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch OMIM:606394 maturity-onset diabetes of the young, type 6 semapv:ManualMappingCuration MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:ManualMappingCuration MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch OMIM:606408 ehlers-danlos syndrome, classic-like, 1 semapv:ManualMappingCuration MONDO:0011671 Huntington disease-like 2 skos:exactMatch OMIM:606438 huntington disease-like 2 semapv:ManualMappingCuration MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch OMIM:606445 persistent polyclonal b-cell lymphocytosis semapv:ManualMappingCuration MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch OMIM:606451 deafness, autosomal dominant 30 semapv:ManualMappingCuration MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:ManualMappingCuration MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch OMIM:606483 charcot-marie-tooth disease, axonal, type 2gg semapv:ManualMappingCuration MONDO:0011676 PHACE syndrome skos:exactMatch OMIM:606519 phace association semapv:ManualMappingCuration MONDO:0011677 Megarbane syndrome skos:exactMatch OMIM:606527 megarbane syndrome semapv:ManualMappingCuration MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:ManualMappingCuration MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch OMIM:606529 craniosynostosis syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0011681 episodic ataxia type 4 skos:exactMatch OMIM:606552 episodic ataxia, type 4 semapv:ManualMappingCuration MONDO:0011682 episodic ataxia type 3 skos:exactMatch OMIM:606554 episodic ataxia, type 3 semapv:ManualMappingCuration MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch OMIM:606574 albinism, oculocutaneous, type 4 semapv:ManualMappingCuration MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:ManualMappingCuration MONDO:0011685 polysubstance abuse, susceptibility to skos:exactMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:ManualMappingCuration MONDO:0011686 DNA ligase IV deficiency skos:exactMatch OMIM:606593 lig4 syndrome semapv:ManualMappingCuration MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch OMIM:606595 charcot-marie-tooth disease, axonal, type 2f semapv:ManualMappingCuration MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 semapv:ManualMappingCuration MONDO:0011689 dyslexia, susceptibility to, 6 skos:exactMatch OMIM:606616 dyslexia, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0011690 Camurati-Engelmann disease, type 2 skos:exactMatch OMIM:606631 camurati-engelmann disease, type 2 semapv:ManualMappingCuration MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch OMIM:606640 amyotrophic lateral sclerosis 3 semapv:ManualMappingCuration MONDO:0011693 glaucoma, normal tension, susceptibility to skos:exactMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:ManualMappingCuration MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch OMIM:606658 spinocerebellar ataxia 15 semapv:ManualMappingCuration MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 melanoma, uveal, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 melanoma, uveal, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch OMIM:606662 waardenburg syndrome, type 2c semapv:ManualMappingCuration MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch OMIM:606664 glycine n-methyltransferase deficiency semapv:ManualMappingCuration MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch OMIM:606668 inflammatory bowel disease 8 semapv:ManualMappingCuration MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch OMIM:606674 inflammatory bowel disease 6 semapv:ManualMappingCuration MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch OMIM:606675 inflammatory bowel disease 4 semapv:ManualMappingCuration MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:ManualMappingCuration MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch OMIM:606688 spongiform encephalopathy with neuropsychiatric features semapv:ManualMappingCuration MONDO:0011704 obsolete glaucoma 1, open angle, B skos:exactMatch OMIM:606689 glaucoma 1, open angle, B semapv:ManualMappingCuration MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch OMIM:606690 lymphangioleiomyomatosis semapv:ManualMappingCuration MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch OMIM:606693 kufor-rakeb syndrome semapv:ManualMappingCuration MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch OMIM:606705 deafness, autosomal dominant 36 semapv:ManualMappingCuration MONDO:0011709 split hand-foot malformation 5 skos:exactMatch OMIM:606708 split-hand/foot malformation 5 semapv:ManualMappingCuration MONDO:0011710 specific language impairment 1 skos:exactMatch OMIM:606711 specific language impairment 1 semapv:ManualMappingCuration MONDO:0011711 specific language impairment 2 skos:exactMatch OMIM:606712 specific language impairment 2 semapv:ManualMappingCuration MONDO:0011712 van der Woude syndrome 2 skos:exactMatch OMIM:606713 van der woude syndrome 2 semapv:ManualMappingCuration MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:ManualMappingCuration MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch OMIM:606721 lipodystrophy, familial partial, type 7 semapv:ManualMappingCuration MONDO:0011715 Seckel syndrome 2 skos:exactMatch OMIM:606744 seckel syndrome 2 semapv:ManualMappingCuration MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:ManualMappingCuration MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:ManualMappingCuration MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:ManualMappingCuration MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch OMIM:606764 gastrointestinal stromal tumor semapv:ManualMappingCuration MONDO:0011720 spermatogenic failure 3 skos:exactMatch OMIM:606766 spermatogenic failure 3 semapv:ManualMappingCuration MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:ManualMappingCuration MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:ManualMappingCuration MONDO:0011723 hemifacial myohyperplasia skos:exactMatch OMIM:606773 hemifacial myohyperplasia semapv:ManualMappingCuration MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:ManualMappingCuration MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch OMIM:606785 crigler-najjar syndrome, type 2 semapv:ManualMappingCuration MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:ManualMappingCuration MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:exactMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:ManualMappingCuration MONDO:0011729 stroke, susceptibility to, 1 skos:exactMatch OMIM:606799 stroke, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011730 fumaric aciduria skos:exactMatch OMIM:606812 fumarase deficiency semapv:ManualMappingCuration MONDO:0011731 glucose-galactose malabsorption skos:exactMatch OMIM:606824 glucose/galactose malabsorption semapv:ManualMappingCuration MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:ManualMappingCuration MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch OMIM:606840 parasomnia, sleep bruxism type semapv:ManualMappingCuration MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch OMIM:606842 cardioneuromyopathy with hyaline masses and nemaline rods semapv:ManualMappingCuration MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch OMIM:606843 immunodeficiency with hyper-igm, type 3 semapv:ManualMappingCuration MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch OMIM:606851 cree impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0011737 Parkinson disease 10 skos:exactMatch OMIM:606852 parkinson disease 10 semapv:ManualMappingCuration MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch OMIM:606854 cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) semapv:ManualMappingCuration MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:exactMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch OMIM:606864 paraganglioma and gastric stromal sarcoma semapv:ManualMappingCuration MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:606874 hirschsprung disease, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 hirschsprung disease, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0011743 Alzheimer disease 4 skos:exactMatch OMIM:606889 alzheimer disease 4 semapv:ManualMappingCuration MONDO:0011744 primary intraosseous venous malformation skos:exactMatch OMIM:606893 vascular malformation, primary intraosseous semapv:ManualMappingCuration MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch OMIM:606894 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery semapv:ManualMappingCuration MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch OMIM:606895 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch semapv:ManualMappingCuration MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch OMIM:606896 dyslexia, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0011748 Usher syndrome type 1G skos:exactMatch OMIM:606943 usher syndrome, type 1g semapv:ManualMappingCuration MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch OMIM:606952 albinism, oculocutaneous, type 1b semapv:ManualMappingCuration MONDO:0011750 obsolete insulinoma tumor suppressor gene locus skos:exactMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:ManualMappingCuration MONDO:0011752 nephronophthisis 4 skos:exactMatch OMIM:606966 nephronophthisis 4 semapv:ManualMappingCuration MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:ManualMappingCuration MONDO:0011755 senior-loken syndrome 3 skos:exactMatch OMIM:606995 senior-loken syndrome 3 semapv:ManualMappingCuration MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch OMIM:606996 senior-loken syndrome 4 semapv:ManualMappingCuration MONDO:0011757 brachydactyly type A1B skos:exactMatch OMIM:607004 brachydactyly, type a1, B semapv:ManualMappingCuration MONDO:0011758 Hurler syndrome skos:exactMatch OMIM:607014 hurler syndrome semapv:ManualMappingCuration MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch OMIM:607015 hurler-scheie syndrome semapv:ManualMappingCuration MONDO:0011760 Scheie syndrome skos:exactMatch OMIM:607016 scheie syndrome semapv:ManualMappingCuration MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch OMIM:607017 deafness, autosomal dominant 21 semapv:ManualMappingCuration MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch OMIM:607039 deafness, autosomal recessive 22 semapv:ManualMappingCuration MONDO:0011763 obsolete T-box 24 skos:exactMatch OMIM:607044 t-box 24 semapv:ManualMappingCuration MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:ManualMappingCuration MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:ManualMappingCuration MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:ManualMappingCuration MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch OMIM:607084 deafness, autosomal recessive 31 semapv:ManualMappingCuration MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:ManualMappingCuration MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:ManualMappingCuration MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch OMIM:607091 congenital disorder of glycosylation, type iid semapv:ManualMappingCuration MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch OMIM:607101 deafness, autosomal recessive 30 semapv:ManualMappingCuration MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:ManualMappingCuration MONDO:0011776 CINCA syndrome skos:exactMatch OMIM:607115 CINCA syndrome semapv:ManualMappingCuration MONDO:0011777 Alzheimer disease 8 skos:exactMatch OMIM:607116 alzheimer disease 8 semapv:ManualMappingCuration MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:ManualMappingCuration MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:ManualMappingCuration MONDO:0011780 specific language impairment 3 skos:exactMatch OMIM:607134 specific language impairment 3 semapv:ManualMappingCuration MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch OMIM:607136 spinocerebellar ataxia 17 semapv:ManualMappingCuration MONDO:0011782 angioid streaks skos:exactMatch OMIM:607140 angioid streaks semapv:ManualMappingCuration MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch OMIM:607143 congenital disorder of glycosylation, type ig semapv:ManualMappingCuration MONDO:0011784 Moyamoya disease 2 skos:exactMatch OMIM:607151 moyamoya disease 2 semapv:ManualMappingCuration MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:ManualMappingCuration MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 semapv:ManualMappingCuration MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:ManualMappingCuration MONDO:0011789 familial meningioma skos:exactMatch OMIM:607174 meningioma, familial, susceptibility to semapv:ManualMappingCuration MONDO:0011790 Amish lethal microcephaly skos:exactMatch OMIM:607196 microcephaly, amish type semapv:ManualMappingCuration MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:ManualMappingCuration MONDO:0011793 celiac disease, susceptibility to, 5 skos:exactMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch OMIM:607214 anonychia, total, with microcephaly semapv:ManualMappingCuration MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:ManualMappingCuration MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:ManualMappingCuration MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch OMIM:607239 deafness, autosomal recessive 33 semapv:ManualMappingCuration MONDO:0011800 glioma susceptibility 4 skos:exactMatch OMIM:607248 glioma susceptibility 4 semapv:ManualMappingCuration MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 semapv:ManualMappingCuration MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:ManualMappingCuration MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:ManualMappingCuration MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch OMIM:607271 caspase 8 deficiency semapv:ManualMappingCuration MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011806 osteofibrous dysplasia skos:exactMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:ManualMappingCuration MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011808 cataract 27 skos:exactMatch OMIM:607304 cataract 27 semapv:ManualMappingCuration MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:ManualMappingCuration MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:ManualMappingCuration MONDO:0011812 Duane-radial ray syndrome skos:exactMatch OMIM:607323 duane-radial ray syndrome semapv:ManualMappingCuration MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch OMIM:607324 polydactyly, postaxial, type a3 semapv:ManualMappingCuration MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch OMIM:607326 smith-mccort dysplasia 1 semapv:ManualMappingCuration MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:exactMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011816 lathosterolosis skos:exactMatch OMIM:607330 lathosterolosis semapv:ManualMappingCuration MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:exactMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch OMIM:607341 focal cortical dysplasia, type 2 semapv:ManualMappingCuration MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch OMIM:607346 spinocerebellar ataxia 19 semapv:ManualMappingCuration MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch OMIM:607354 scoliosis, isolated, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch OMIM:607361 meckel syndrome, type 3 semapv:ManualMappingCuration MONDO:0011822 Bartter disease type 3 skos:exactMatch OMIM:607364 bartter syndrome, type 3 semapv:ManualMappingCuration MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch OMIM:607371 dystonia-deafness syndrome 1 semapv:ManualMappingCuration MONDO:0011824 autism, susceptibility to, 8 skos:exactMatch OMIM:607373 autism, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0011825 streptococcus, group A, severity of infection by skos:exactMatch OMIM:607395 streptococcus, group a, severity of infection by semapv:ManualMappingCuration MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch OMIM:607398 glucocorticoid deficiency 2 semapv:ManualMappingCuration MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:ManualMappingCuration MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch OMIM:607432 lissencephaly 1 semapv:ManualMappingCuration MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:ManualMappingCuration MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch OMIM:607453 deafness, autosomal dominant 44 semapv:ManualMappingCuration MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch OMIM:607454 spinocerebellar ataxia 21 semapv:ManualMappingCuration MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch OMIM:607458 spinocerebellar ataxia 18 semapv:ManualMappingCuration MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:ManualMappingCuration MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:ManualMappingCuration MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch OMIM:607473 vitamin k-dependent clotting factors, combined deficiency of, 2 semapv:ManualMappingCuration MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch OMIM:607475 bothnia retinal dystrophy semapv:ManualMappingCuration MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:ManualMappingCuration MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:ManualMappingCuration MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch OMIM:607483 basal ganglia disease, biotin-thiamine responsive semapv:ManualMappingCuration MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch OMIM:607485 frontotemporal dementia 2 semapv:ManualMappingCuration MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:ManualMappingCuration MONDO:0011844 myoclonic dystonia 15 skos:exactMatch OMIM:607488 dystonia 15, myoclonic semapv:ManualMappingCuration MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:exactMatch OMIM:607499 bulimia nervosa, susceptibility to semapv:ManualMappingCuration MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0011848 headache associated with sexual activity skos:exactMatch OMIM:607504 headache associated with sexual activity semapv:ManualMappingCuration MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:exactMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:ManualMappingCuration MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch OMIM:607539 camptosynpolydactyly, complex semapv:ManualMappingCuration MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch OMIM:607540 secretory diarrhea, myopathy, and deafness semapv:ManualMappingCuration MONDO:0011855 granular corneal dystrophy type II skos:exactMatch OMIM:607541 corneal dystrophy, avellino type semapv:ManualMappingCuration MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:ManualMappingCuration MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch OMIM:607554 atrial fibrillation, familial, 3 semapv:ManualMappingCuration MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch OMIM:607565 spastic paraplegia, ataxia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch OMIM:607572 leprosy, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011861 breath-holding Spells skos:exactMatch OMIM:607578 breath-holding spells semapv:ManualMappingCuration MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:ManualMappingCuration MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:ManualMappingCuration MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:ManualMappingCuration MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch OMIM:607596 pontocerebellar hypoplasia, type 1a semapv:ManualMappingCuration MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch OMIM:607597 microphthalmia with cyst, bilateral facial clefts, and limb anomalies semapv:ManualMappingCuration MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch OMIM:607598 lethal congenital contracture syndrome 2 semapv:ManualMappingCuration MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch OMIM:607600 epidermolysis bullosa simplex superficialis semapv:ManualMappingCuration MONDO:0011871 Niemann-Pick disease type B skos:exactMatch OMIM:607616 niemann-pick disease, type B semapv:ManualMappingCuration MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch OMIM:607624 griscelli syndrome, type 2 semapv:ManualMappingCuration MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch OMIM:607625 niemann-pick disease, type c2 semapv:ManualMappingCuration MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:ManualMappingCuration MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch OMIM:607641 neuronopathy, distal hereditary motor, autosomal dominant 14 semapv:ManualMappingCuration MONDO:0011880 candidiasis, familial, 3 skos:exactMatch OMIM:607644 candidiasis, familial, 3 semapv:ManualMappingCuration MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:ManualMappingCuration MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:ManualMappingCuration MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:ManualMappingCuration MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:ManualMappingCuration MONDO:0011886 torsion dystonia 13 skos:exactMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:ManualMappingCuration MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch OMIM:607674 cataract, congenital, with mental impairment and dentate gyrus atrophy semapv:ManualMappingCuration MONDO:0011888 immunodeficiency 67 skos:exactMatch OMIM:607676 immunodeficiency 67 semapv:ManualMappingCuration MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch OMIM:607677 charcot-marie-tooth disease, axonal, type 2i semapv:ManualMappingCuration MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, type 1d semapv:ManualMappingCuration MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch OMIM:607681 febrile seizures, familial, 8 semapv:ManualMappingCuration MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0011893 obsolete autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch OMIM:607683 semapv:ManualMappingCuration MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch OMIM:607684 charcot-marie-tooth disease, axonal, type 2e semapv:ManualMappingCuration MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:ManualMappingCuration MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:ManualMappingCuration MONDO:0011897 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:ManualMappingCuration MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:exactMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic type semapv:ManualMappingCuration MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch OMIM:607731 charcot-marie-tooth disease, axonal, type 2h semapv:ManualMappingCuration MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch OMIM:607734 charcot-marie-tooth disease, demyelinating, type 1f semapv:ManualMappingCuration MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch OMIM:607736 charcot-marie-tooth disease, axonal, type 2j semapv:ManualMappingCuration MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:ManualMappingCuration MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:ManualMappingCuration MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch OMIM:607778 acrocapitofemoral dysplasia semapv:ManualMappingCuration MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:ManualMappingCuration MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:ManualMappingCuration MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:ManualMappingCuration MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch OMIM:607812 craniolenticulosutural dysplasia semapv:ManualMappingCuration MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch OMIM:607821 deafness, autosomal recessive 37 semapv:ManualMappingCuration MONDO:0011913 Alzheimer disease 3 skos:exactMatch OMIM:607822 alzheimer disease 3 semapv:ManualMappingCuration MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch OMIM:607823 hypotrichosis-lymphedema-telangiectasia syndrome semapv:ManualMappingCuration MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch OMIM:607829 mitral valve prolapse 2 semapv:ManualMappingCuration MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch OMIM:607831 charcot-marie-tooth disease, axonal, type 2k semapv:ManualMappingCuration MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:ManualMappingCuration MONDO:0011918 anxiety skos:exactMatch OMIM:607834 anxiety semapv:ManualMappingCuration MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:exactMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch OMIM:607841 deafness, autosomal dominant 48 semapv:ManualMappingCuration MONDO:0011921 aural atresia, congenital skos:exactMatch OMIM:607842 aural atresia, congenital semapv:ManualMappingCuration MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults semapv:ManualMappingCuration MONDO:0011923 osteoarthritis susceptibility 3 skos:exactMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:ManualMappingCuration MONDO:0011924 panic disorder 2 skos:exactMatch OMIM:607853 panic disorder 2 semapv:ManualMappingCuration MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:ManualMappingCuration MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch OMIM:607857 psoriasis 9, susceptibility to semapv:ManualMappingCuration MONDO:0011927 tufted angioma skos:exactMatch OMIM:607859 angioma, tufted semapv:ManualMappingCuration MONDO:0011928 caudal duplication skos:exactMatch OMIM:607864 caudal duplication anomaly semapv:ManualMappingCuration MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:ManualMappingCuration MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:ManualMappingCuration MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch OMIM:607893 ovarian cancer, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011932 hypotrichosis 6 skos:exactMatch OMIM:607903 hypotrichosis 6 semapv:ManualMappingCuration MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch OMIM:607906 congenital disorder of glycosylation, type ii semapv:ManualMappingCuration MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:ManualMappingCuration MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:ManualMappingCuration MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch OMIM:607932 microphthalmia, syndromic 6 semapv:ManualMappingCuration MONDO:0011937 peeling skin syndrome 4 skos:exactMatch OMIM:607936 peeling skin syndrome 4 semapv:ManualMappingCuration MONDO:0011938 atrial septal defect 2 skos:exactMatch OMIM:607941 atrial septal defect 2 semapv:ManualMappingCuration MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch OMIM:607944 spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration MONDO:0011941 Mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch OMIM:608013 gaucher disease, perinatal lethal semapv:ManualMappingCuration MONDO:0011946 diaphanospondylodysostosis skos:exactMatch OMIM:608022 diaphanospondylodysostosis semapv:ManualMappingCuration MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch OMIM:608027 pontocerebellar hypoplasia, type 3 semapv:ManualMappingCuration MONDO:0011949 Thai symphalangism syndrome skos:exactMatch OMIM:608028 thai symphalangism syndrome semapv:ManualMappingCuration MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:ManualMappingCuration MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch OMIM:608031 amyotrophic lateral sclerosis 7 semapv:ManualMappingCuration MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch OMIM:608036 type 2 diabetes mellitus 4 semapv:ManualMappingCuration MONDO:0011956 autism, susceptibility to, 3 skos:exactMatch OMIM:608049 autism, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:ManualMappingCuration MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch OMIM:608063 bile and pancreatic ducts, complete absence of semapv:ManualMappingCuration MONDO:0011959 sweet syndrome skos:exactMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:ManualMappingCuration MONDO:0011960 schizophrenia 11 skos:exactMatch OMIM:608078 schizophrenia 11 semapv:ManualMappingCuration MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch OMIM:608088 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux semapv:ManualMappingCuration MONDO:0011962 endometrial cancer skos:exactMatch OMIM:608089 endometrial cancer semapv:ManualMappingCuration MONDO:0011963 Joubert syndrome 2 skos:exactMatch OMIM:608091 joubert syndrome 2 semapv:ManualMappingCuration MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch OMIM:608093 congenital disorder of glycosylation, type ij semapv:ManualMappingCuration MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:ManualMappingCuration MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:ManualMappingCuration MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:ManualMappingCuration MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch OMIM:608104 congenital disorder of glycosylation, type ih semapv:ManualMappingCuration MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:ManualMappingCuration MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch OMIM:608106 immunodeficiency with hyper-igm, type 5 semapv:ManualMappingCuration MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:ManualMappingCuration MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch OMIM:608118 zinc deficiency, transient neonatal semapv:ManualMappingCuration MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch OMIM:608133 retinitis pigmentosa 7 semapv:ManualMappingCuration MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch OMIM:608149 kagami-ogata syndrome semapv:ManualMappingCuration MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch OMIM:608154 lipodystrophy, generalized, with impaired intellectual development, deafness, short stature, and slender bones semapv:ManualMappingCuration MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch OMIM:608156 nablus mask-like facial syndrome semapv:ManualMappingCuration MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch OMIM:608158 coq-responsive oxphos deficiency semapv:ManualMappingCuration MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0011984 synpolydactyly type 2 skos:exactMatch OMIM:608180 synpolydactyly 2 semapv:ManualMappingCuration MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch OMIM:608184 immunodeficiency with hyper-igm, type 4 semapv:ManualMappingCuration MONDO:0011986 tropical pancreatitis skos:exactMatch OMIM:608189 tropical calcific pancreatitis semapv:ManualMappingCuration MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch OMIM:608194 cone-rod dystrophy 13 semapv:ManualMappingCuration MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:ManualMappingCuration MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:ManualMappingCuration MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch OMIM:608219 deafness, autosomal recessive 38 semapv:ManualMappingCuration MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:ManualMappingCuration MONDO:0011993 aspirin resistance skos:exactMatch OMIM:608223 aspirin resistance semapv:ManualMappingCuration MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch OMIM:608224 deafness, autosomal dominant 41 semapv:ManualMappingCuration MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:ManualMappingCuration MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch OMIM:608232 leukemia, chronic myeloid semapv:ManualMappingCuration MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch OMIM:608233 hermansky-pudlak syndrome 2 semapv:ManualMappingCuration MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:ManualMappingCuration MONDO:0011999 otosclerosis 3 skos:exactMatch OMIM:608244 otosclerosis 3 semapv:ManualMappingCuration MONDO:0012000 specific phobia skos:exactMatch OMIM:608251 phobia, specific semapv:ManualMappingCuration MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch OMIM:608257 mandibulofacial dysostosis with ptosis, autosomal dominant semapv:ManualMappingCuration MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch OMIM:608264 deafness, autosomal recessive 40 semapv:ManualMappingCuration MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch OMIM:608265 deafness, autosomal recessive 39 semapv:ManualMappingCuration MONDO:0012004 parathyroid gland carcinoma skos:exactMatch OMIM:608266 parathyroid carcinoma semapv:ManualMappingCuration MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch OMIM:608278 growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy semapv:ManualMappingCuration MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch OMIM:608279 craniosynostosis with ocular abnormalities and hallucal defects semapv:ManualMappingCuration MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:ManualMappingCuration MONDO:0012008 Lelis syndrome skos:exactMatch OMIM:608290 lelis syndrome semapv:ManualMappingCuration MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:exactMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:exactMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:ManualMappingCuration MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:ManualMappingCuration MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:ManualMappingCuration MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:ManualMappingCuration MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:ManualMappingCuration MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley type semapv:ManualMappingCuration MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:ManualMappingCuration MONDO:0012021 myopia 17, autosomal dominant skos:exactMatch OMIM:608367 myopia 17, autosomal dominant semapv:ManualMappingCuration MONDO:0012022 orofacial cleft 4 skos:exactMatch OMIM:608371 orofacial cleft 4 semapv:ManualMappingCuration MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch OMIM:608372 deafness, autosomal dominant 49 semapv:ManualMappingCuration MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch OMIM:608380 retinitis pigmentosa 26 semapv:ManualMappingCuration MONDO:0012025 branchiootic syndrome 3 skos:exactMatch OMIM:608389 branchiootic syndrome 3 semapv:ManualMappingCuration MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:exactMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:exactMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch OMIM:608393 microcephaly 6, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch OMIM:608394 deafness, autosomal dominant 43 semapv:ManualMappingCuration MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:ManualMappingCuration MONDO:0012032 Braddock syndrome skos:exactMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:ManualMappingCuration MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:ManualMappingCuration MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch OMIM:608443 intellectual developmental disorder, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0012038 speech-sound disorder skos:exactMatch OMIM:608445 speech-sound disorder semapv:ManualMappingCuration MONDO:0012039 myocardial infarction, susceptibility to skos:exactMatch OMIM:608446 myocardial infarction, susceptibility to semapv:ManualMappingCuration MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch OMIM:608448 inflammatory bowel disease 9 semapv:ManualMappingCuration MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch OMIM:608456 familial adenomatous polyposis 2 semapv:ManualMappingCuration MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:exactMatch OMIM:608462 hirschsprung disease, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch OMIM:608470 corneal dystrophy, reis-bucklers type semapv:ManualMappingCuration MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch OMIM:608471 corneal dystrophy, lattice type 3a semapv:ManualMappingCuration MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch OMIM:608474 myopia 5, autosomal dominant semapv:ManualMappingCuration MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:ManualMappingCuration MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch OMIM:608509 alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia semapv:ManualMappingCuration MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch OMIM:608518 orofaciodigital syndrome 7 semapv:ManualMappingCuration MONDO:0012050 major depressive disorder 1 skos:exactMatch OMIM:608520 major depressive disorder 1 semapv:ManualMappingCuration MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch OMIM:608526 periodontitis, aggressive, 2 semapv:ManualMappingCuration MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch OMIM:608540 congenital disorder of glycosylation, type ik semapv:ManualMappingCuration MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:ManualMappingCuration MONDO:0012054 schizophrenia 12 skos:exactMatch OMIM:608543 schizophrenia 12 semapv:ManualMappingCuration MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch OMIM:608545 larsen-like syndrome semapv:ManualMappingCuration MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch OMIM:608553 leber congenital amaurosis 9 semapv:ManualMappingCuration MONDO:0012057 legionnaire disease, susceptibility to skos:exactMatch OMIM:608556 legionnaire disease, susceptibility to semapv:ManualMappingCuration MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:exactMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch OMIM:608562 polydactyly, postaxial, type a4 semapv:ManualMappingCuration MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch OMIM:608565 deafness, autosomal recessive 35 semapv:ManualMappingCuration MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:ManualMappingCuration MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:ManualMappingCuration MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch OMIM:608572 burn-mckeown syndrome semapv:ManualMappingCuration MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch OMIM:608583 atrial fibrillation, familial, 1 semapv:ManualMappingCuration MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch OMIM:608584 asthma-related traits, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012068 brachial palsy, familial congenital skos:exactMatch OMIM:608585 brachial palsy, familial congenital semapv:ManualMappingCuration MONDO:0012069 keratoconus 3 skos:exactMatch OMIM:608586 keratoconus 3 semapv:ManualMappingCuration MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch OMIM:608594 lipodystrophy, congenital generalized, type 1 semapv:ManualMappingCuration MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch OMIM:608600 lipodystrophy, familial partial, type 1 semapv:ManualMappingCuration MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:ManualMappingCuration MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch OMIM:608612 mandibuloacral dysplasia with type B lipodystrophy semapv:ManualMappingCuration MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch OMIM:608615 oligodontia-colorectal cancer syndrome semapv:ManualMappingCuration MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch OMIM:608624 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia semapv:ManualMappingCuration MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch OMIM:608627 amyotrophic lateral sclerosis 8 semapv:ManualMappingCuration MONDO:0012078 Joubert syndrome 3 skos:exactMatch OMIM:608629 joubert syndrome 3 semapv:ManualMappingCuration MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:exactMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch OMIM:608634 neuronopathy, distal hereditary motor, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:ManualMappingCuration MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:exactMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch OMIM:608641 deafness, autosomal dominant 28 semapv:ManualMappingCuration MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:ManualMappingCuration MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:ManualMappingCuration MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch OMIM:608645 deafness, autosomal dominant 31 semapv:ManualMappingCuration MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:ManualMappingCuration MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:ManualMappingCuration MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch OMIM:608649 ichthyosis prematurity syndrome semapv:ManualMappingCuration MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch OMIM:608652 deafness, autosomal dominant 47 semapv:ManualMappingCuration MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:ManualMappingCuration MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, type 5 semapv:ManualMappingCuration MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch OMIM:608656 prostate cancer, hereditary, 3 semapv:ManualMappingCuration MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:ManualMappingCuration MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:ManualMappingCuration MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch OMIM:608673 charcot-marie-tooth disease, axonal, type 2l semapv:ManualMappingCuration MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch OMIM:608681 spondylocostal dysostosis 2, autosomal recessive semapv:ManualMappingCuration MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch OMIM:608687 spinocerebellar ataxia 20 semapv:ManualMappingCuration MONDO:0012099 AICA-ribosiduria skos:exactMatch OMIM:608688 aica-ribosiduria due to atic deficiency semapv:ManualMappingCuration MONDO:0012100 major depressive disorder 2 skos:exactMatch OMIM:608691 major depressive disorder 2 semapv:ManualMappingCuration MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch OMIM:608695 glaucoma 1, open angle, j semapv:ManualMappingCuration MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch OMIM:608696 glaucoma 1, open angle, k semapv:ManualMappingCuration MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch OMIM:608703 spinocerebellar ataxia 25 semapv:ManualMappingCuration MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch OMIM:608710 granulomatosis with polyangiitis semapv:ManualMappingCuration MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch OMIM:608716 microcephaly 5, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch OMIM:608720 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia semapv:ManualMappingCuration MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type semapv:ManualMappingCuration MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:exactMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:ManualMappingCuration MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:ManualMappingCuration MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:ManualMappingCuration MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen type semapv:ManualMappingCuration MONDO:0012115 scoliosis, isolated, susceptibility to, 3 skos:exactMatch OMIM:608765 scoliosis, isolated, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch OMIM:608768 spinocerebellar ataxia 8 semapv:ManualMappingCuration MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch OMIM:608776 congenital disorder of glycosylation, type il semapv:ManualMappingCuration MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch OMIM:608779 congenital disorder of glycosylation, type iie semapv:ManualMappingCuration MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:exactMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:ManualMappingCuration MONDO:0012121 otosclerosis 5 skos:exactMatch OMIM:608787 otosclerosis 5 semapv:ManualMappingCuration MONDO:0012122 moyamoya disease 3 skos:exactMatch OMIM:608796 moyamoya disease 3 semapv:ManualMappingCuration MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch OMIM:608799 congenital disorder of glycosylation, type ie semapv:ManualMappingCuration MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:ManualMappingCuration MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:ManualMappingCuration MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:ManualMappingCuration MONDO:0012128 transposition of the great arteries, dextro-looped skos:exactMatch OMIM:608808 transposition of the great arteries, dextro-looped semapv:ManualMappingCuration MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema semapv:ManualMappingCuration MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch OMIM:608810 myopathy, myofibrillar, 2a, adult-onset semapv:ManualMappingCuration MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch OMIM:608811 metaphyseal undermodeling, spondylar dysplasia, and overgrowth semapv:ManualMappingCuration MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:exactMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch OMIM:608814 lateral semicircular canal malformation, familial, with external and middle ear abnormalities semapv:ManualMappingCuration MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch OMIM:608831 restless legs syndrome, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:ManualMappingCuration MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch OMIM:608837 carney complex variant semapv:ManualMappingCuration MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6 semapv:ManualMappingCuration MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:ManualMappingCuration MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:ManualMappingCuration MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch OMIM:608864 orofacial cleft 6, susceptibility to semapv:ManualMappingCuration MONDO:0012142 orofacial cleft 5 skos:exactMatch OMIM:608874 orofacial cleft 5 semapv:ManualMappingCuration MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:ManualMappingCuration MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch OMIM:608895 macular degeneration, age-related, 3 semapv:ManualMappingCuration MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:ManualMappingCuration MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:exactMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:ManualMappingCuration MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012153 Alzheimer disease 9 skos:exactMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:ManualMappingCuration MONDO:0012154 myopia 6 skos:exactMatch OMIM:608908 myopia 6 semapv:ManualMappingCuration MONDO:0012155 choanal atresia skos:exactMatch OMIM:608911 choanal atresia, posterior semapv:ManualMappingCuration MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:ManualMappingCuration MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:ManualMappingCuration MONDO:0012158 keratoconus 2 skos:exactMatch OMIM:608932 keratoconus 2 semapv:ManualMappingCuration MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:ManualMappingCuration MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:ManualMappingCuration MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch OMIM:608957 immunodeficiency 116 semapv:ManualMappingCuration MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:ManualMappingCuration MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:608971 immunodeficiency 104, severe combined semapv:ManualMappingCuration MONDO:0012164 Meacham syndrome skos:exactMatch OMIM:608978 meacham syndrome semapv:ManualMappingCuration MONDO:0012165 BNAR syndrome skos:exactMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:ManualMappingCuration MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:ManualMappingCuration MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch OMIM:608988 atrial fibrillation, familial, 2 semapv:ManualMappingCuration MONDO:0012168 dyslexia, susceptibility to, 8 skos:exactMatch OMIM:608995 dyslexia, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012169 premature ovarian failure 3 skos:exactMatch OMIM:608996 premature ovarian failure 3 semapv:ManualMappingCuration MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:ManualMappingCuration MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch OMIM:609008 marfanoid habitus with situs inversus semapv:ManualMappingCuration MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0012174 peripheral cone dystrophy skos:exactMatch OMIM:609021 peripheral cone dystrophy semapv:ManualMappingCuration MONDO:0012175 cataract 28 skos:exactMatch OMIM:609026 cataract 28 semapv:ManualMappingCuration MONDO:0012176 Emanuel syndrome skos:exactMatch OMIM:609029 emanuel syndrome semapv:ManualMappingCuration MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch OMIM:609033 retinopathy-sensory neuropathy syndrome semapv:ManualMappingCuration MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch OMIM:609037 intellectual developmental disorder with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:ManualMappingCuration MONDO:0012179 narcolepsy 3 skos:exactMatch OMIM:609039 narcolepsy 3 semapv:ManualMappingCuration MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:ManualMappingCuration MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:ManualMappingCuration MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch OMIM:609047 skeletal dysplasia, rhizomelic, with retinitis pigmentosa semapv:ManualMappingCuration MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012184 Pierson syndrome skos:exactMatch OMIM:609049 pierson syndrome semapv:ManualMappingCuration MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch OMIM:609052 spondylometaphyseal dysplasia, type a4 semapv:ManualMappingCuration MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:ManualMappingCuration MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch OMIM:609054 fanconi anemia, complementation group j semapv:ManualMappingCuration MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:ManualMappingCuration MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:ManualMappingCuration MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:ManualMappingCuration MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:ManualMappingCuration MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:ManualMappingCuration MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch OMIM:609128 arthrogryposis, distal, type 4 semapv:ManualMappingCuration MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0012197 idiopathic aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:ManualMappingCuration MONDO:0012198 PCWH syndrome skos:exactMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:ManualMappingCuration MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:ManualMappingCuration MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:ManualMappingCuration MONDO:0012202 malaria, mild, susceptibility to skos:exactMatch OMIM:609148 malaria, mild, susceptibility to semapv:ManualMappingCuration MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:ManualMappingCuration MONDO:0012204 familial pseudohyperkalemia skos:exactMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:ManualMappingCuration MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch OMIM:609161 striatal degeneration, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch OMIM:609162 czech dysplasia semapv:ManualMappingCuration MONDO:0012207 umbilicus, familial flat skos:exactMatch OMIM:609164 umbilicus, familial flat semapv:ManualMappingCuration MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch OMIM:609165 ichthyosis with confetti semapv:ManualMappingCuration MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch OMIM:609166 branchiogenic-deafness syndrome semapv:ManualMappingCuration MONDO:0012210 migraine with aura, susceptibility to, 7 skos:exactMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch OMIM:609180 congenital disorder of glycosylation, type if semapv:ManualMappingCuration MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch OMIM:609192 loeys-dietz syndrome 1 semapv:ManualMappingCuration MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:ManualMappingCuration MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch OMIM:609197 glucocorticoid deficiency 3 semapv:ManualMappingCuration MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:ManualMappingCuration MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch OMIM:609218 foveal hypoplasia 2 semapv:ManualMappingCuration MONDO:0012217 Bruck syndrome 2 skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:ManualMappingCuration MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:ManualMappingCuration MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch OMIM:609223 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type semapv:ManualMappingCuration MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch OMIM:609227 griscelli syndrome, type 3 semapv:ManualMappingCuration MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch OMIM:609241 schindler disease, type 1 semapv:ManualMappingCuration MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch OMIM:609242 kanzaki disease semapv:ManualMappingCuration MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:ManualMappingCuration MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch OMIM:609253 febrile seizures, familial, 6 semapv:ManualMappingCuration MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch OMIM:609254 senior-loken syndrome 5 semapv:ManualMappingCuration MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch OMIM:609255 febrile seizures, familial, 5 semapv:ManualMappingCuration MONDO:0012227 myopia 7 skos:exactMatch OMIM:609256 myopia 7 semapv:ManualMappingCuration MONDO:0012228 myopia 8 skos:exactMatch OMIM:609257 myopia 8 semapv:ManualMappingCuration MONDO:0012229 myopia 9 skos:exactMatch OMIM:609258 myopia 9 semapv:ManualMappingCuration MONDO:0012230 myopia 10 skos:exactMatch OMIM:609259 myopia 10 semapv:ManualMappingCuration MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a semapv:ManualMappingCuration MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch OMIM:609261 stuttering, familial persistent, 2 semapv:ManualMappingCuration MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch OMIM:609265 tumor predisposition syndrome 4 semapv:ManualMappingCuration MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0012236 keratoconus 4 skos:exactMatch OMIM:609271 keratoconus 4 semapv:ManualMappingCuration MONDO:0012237 nemaline myopathy 6 skos:exactMatch OMIM:609273 nemaline myopathy 6 semapv:ManualMappingCuration MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:ManualMappingCuration MONDO:0012240 congenital myopathy 23 skos:exactMatch OMIM:609285 congenital myopathy 23 semapv:ManualMappingCuration MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0012242 syncope, familial vasovagal skos:exactMatch OMIM:609289 syncope, familial vasovagal semapv:ManualMappingCuration MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:ManualMappingCuration MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:ManualMappingCuration MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch OMIM:609304 developmental and epileptic encephalopathy 3 semapv:ManualMappingCuration MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch OMIM:609306 spinocerebellar ataxia 26 semapv:ManualMappingCuration MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 semapv:ManualMappingCuration MONDO:0012249 Lynch syndrome 2 skos:exactMatch OMIM:609310 lynch syndrome 2 semapv:ManualMappingCuration MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch OMIM:609311 charcot-marie-tooth disease, demyelinating, type 4h semapv:ManualMappingCuration MONDO:0012251 MEDNIK syndrome skos:exactMatch OMIM:609313 MEDNIK syndrome semapv:ManualMappingCuration MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:ManualMappingCuration MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:ManualMappingCuration MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:ManualMappingCuration MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch OMIM:609334 chromosome 18 pericentric inversion semapv:ManualMappingCuration MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:ManualMappingCuration MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:ManualMappingCuration MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:ManualMappingCuration MONDO:0012259 colloid cysts of third ventricle skos:exactMatch OMIM:609363 colloid cysts of third ventricle semapv:ManualMappingCuration MONDO:0012260 cataract 35 skos:exactMatch OMIM:609376 cataract 35 semapv:ManualMappingCuration MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch OMIM:609378 autism, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:ManualMappingCuration MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:exactMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012264 preeclampsia/eclampsia 2 skos:exactMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:ManualMappingCuration MONDO:0012265 preeclampsia/eclampsia 3 skos:exactMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:ManualMappingCuration MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:ManualMappingCuration MONDO:0012267 holoprosencephaly 8 skos:exactMatch OMIM:609408 holoprosencephaly 8 semapv:ManualMappingCuration MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:ManualMappingCuration MONDO:0012270 Tukel syndrome skos:exactMatch OMIM:609428 tukel syndrome semapv:ManualMappingCuration MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:ManualMappingCuration MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch OMIM:609438 intellectual developmental disorder with keratoconus, febrile seizures, and sinoatrial block semapv:ManualMappingCuration MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch OMIM:609439 deafness, autosomal recessive 48 semapv:ManualMappingCuration MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch OMIM:609441 acromesomelic dysplasia 3 semapv:ManualMappingCuration MONDO:0012275 fetal valproate syndrome skos:exactMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:ManualMappingCuration MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy semapv:ManualMappingCuration MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:ManualMappingCuration MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch OMIM:609454 supranuclear palsy, progressive, 2 semapv:ManualMappingCuration MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch OMIM:609460 goldberg-shprintzen syndrome semapv:ManualMappingCuration MONDO:0012282 Al-Gazali syndrome skos:exactMatch OMIM:609465 al-gazali syndrome semapv:ManualMappingCuration MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch OMIM:609466 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss semapv:ManualMappingCuration MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch OMIM:609469 nephropathy, progressive, with deafness semapv:ManualMappingCuration MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch OMIM:609470 left ventricular noncompaction 2 semapv:ManualMappingCuration MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch OMIM:609500 myopathy, autophagic vacuolar, infantile-onset semapv:ManualMappingCuration MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch OMIM:609508 stickler syndrome, type i, nonsyndromic ocular semapv:ManualMappingCuration MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch OMIM:609515 iridogoniodysgenesis and skeletal anomalies semapv:ManualMappingCuration MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:ManualMappingCuration MONDO:0012290 CEDNIK syndrome skos:exactMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:ManualMappingCuration MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:ManualMappingCuration MONDO:0012292 hepatitis C virus, susceptibility to skos:exactMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:ManualMappingCuration MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch OMIM:609533 deafness, autosomal recessive 23 semapv:ManualMappingCuration MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:ManualMappingCuration MONDO:0012295 complement component 5 deficiency skos:exactMatch OMIM:609536 complement component 5 deficiency semapv:ManualMappingCuration MONDO:0012296 lipomyelomeningocele skos:exactMatch OMIM:609537 lipomyelomeningocele semapv:ManualMappingCuration MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:ManualMappingCuration MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:ManualMappingCuration MONDO:0012299 nanophthalmos 2 skos:exactMatch OMIM:609549 nanophthalmos 2 semapv:ManualMappingCuration MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:ManualMappingCuration MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:ManualMappingCuration MONDO:0012302 parietal foramina 3 skos:exactMatch OMIM:609566 parietal foramina 3 semapv:ManualMappingCuration MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:exactMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012304 photoparoxysmal response 2 skos:exactMatch OMIM:609572 photoparoxysmal response 2 semapv:ManualMappingCuration MONDO:0012305 photoparoxysmal response 3 skos:exactMatch OMIM:609573 photoparoxysmal response 3 semapv:ManualMappingCuration MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch OMIM:609578 cardiomyopathy, familial restrictive, 2 semapv:ManualMappingCuration MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:ManualMappingCuration MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch OMIM:609583 joubert syndrome 4 semapv:ManualMappingCuration MONDO:0012309 parietal foramina 2 skos:exactMatch OMIM:609597 parietal foramina 2 semapv:ManualMappingCuration MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:ManualMappingCuration MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch OMIM:609616 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness semapv:ManualMappingCuration MONDO:0012312 short QT syndrome type 1 skos:exactMatch OMIM:609620 short qt syndrome 1 semapv:ManualMappingCuration MONDO:0012313 short QT syndrome type 2 skos:exactMatch OMIM:609621 short qt syndrome 2 semapv:ManualMappingCuration MONDO:0012314 short QT syndrome type 3 skos:exactMatch OMIM:609622 short qt syndrome 3 semapv:ManualMappingCuration MONDO:0012315 distal 10q deletion syndrome skos:exactMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:ManualMappingCuration MONDO:0012316 Majeed syndrome skos:exactMatch OMIM:609628 majeed syndrome semapv:ManualMappingCuration MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:ManualMappingCuration MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0012319 major affective disorder 3 skos:exactMatch OMIM:609633 major affective disorder 3 semapv:ManualMappingCuration MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch OMIM:609634 migraine, familial hemiplegic, 3 semapv:ManualMappingCuration MONDO:0012321 Alzheimer disease 10 skos:exactMatch OMIM:609636 alzheimer disease 10 semapv:ManualMappingCuration MONDO:0012322 holoprosencephaly 5 skos:exactMatch OMIM:609637 holoprosencephaly 5 semapv:ManualMappingCuration MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:ManualMappingCuration MONDO:0012324 Frias syndrome skos:exactMatch OMIM:609640 frias syndrome semapv:ManualMappingCuration MONDO:0012325 Nguyen syndrome skos:exactMatch OMIM:609643 nguyen syndrome semapv:ManualMappingCuration MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch OMIM:609646 deafness, autosomal recessive 42 semapv:ManualMappingCuration MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch OMIM:609647 deafness, autosomal recessive 46 semapv:ManualMappingCuration MONDO:0012328 trichilemmal cyst skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:ManualMappingCuration MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch OMIM:609654 short stature and facioauriculothoracic malformations semapv:ManualMappingCuration MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:ManualMappingCuration MONDO:0012331 migraine with aura, susceptibility to, 9 skos:exactMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch OMIM:609706 deafness, autosomal recessive 53 semapv:ManualMappingCuration MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:ManualMappingCuration MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:ManualMappingCuration MONDO:0012336 cataract 22 multiple types skos:exactMatch OMIM:609741 cataract 22, multiple types semapv:ManualMappingCuration MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:ManualMappingCuration MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012339 celiac disease, susceptibility to, 4 skos:exactMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012340 celiac disease, susceptibility to, 2 skos:exactMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012341 celiac disease, susceptibility to, 3 skos:exactMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch OMIM:609757 williams-beuren region duplication syndrome semapv:ManualMappingCuration MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 aortic aneurysm, familial abdominal, 2 semapv:ManualMappingCuration MONDO:0012344 Alzheimer disease 11 skos:exactMatch OMIM:609790 alzheimer disease 11 semapv:ManualMappingCuration MONDO:0012345 acral peeling skin syndrome skos:exactMatch OMIM:609796 peeling skin syndrome 2 semapv:ManualMappingCuration MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch OMIM:609800 generalized epilepsy with febrile seizures plus, type 4 semapv:ManualMappingCuration MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:ManualMappingCuration MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch OMIM:609812 maturity-onset diabetes of the young, type 8, with exocrine dysfunction semapv:ManualMappingCuration MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch OMIM:609813 spondylocostal dysostosis 3, autosomal recessive semapv:ManualMappingCuration MONDO:0012350 complement factor H deficiency skos:exactMatch OMIM:609814 complement factor h deficiency semapv:ManualMappingCuration MONDO:0012351 zygodactyly type 1 skos:exactMatch OMIM:609815 zygodactyly 1 semapv:ManualMappingCuration MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch OMIM:609817 vasculitis, lymphocytic, cutaneous small vessel semapv:ManualMappingCuration MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch OMIM:609820 erythrocytosis, familial, 3 semapv:ManualMappingCuration MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:ManualMappingCuration MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch OMIM:609823 deafness, autosomal recessive 28 semapv:ManualMappingCuration MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch OMIM:609887 glaucoma 1, open angle, g semapv:ManualMappingCuration MONDO:0012358 leprosy, susceptibility to, 1 skos:exactMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:ManualMappingCuration MONDO:0012360 congenital nongoitrous hypothyroidism 3 skos:exactMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:ManualMappingCuration MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch OMIM:609909 cardiomyopathy, dilated, 1p semapv:ManualMappingCuration MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch OMIM:609913 retinitis pigmentosa 32 semapv:ManualMappingCuration MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:ManualMappingCuration MONDO:0012365 gallbladder disease 2 skos:exactMatch OMIM:609918 gallbladder disease 2 semapv:ManualMappingCuration MONDO:0012366 gallbladder disease 3 skos:exactMatch OMIM:609919 gallbladder disease 3 semapv:ManualMappingCuration MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch OMIM:609923 retinitis pigmentosa 31 semapv:ManualMappingCuration MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch OMIM:609924 aminoacylase 1 deficiency semapv:ManualMappingCuration MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch OMIM:609941 deafness, autosomal recessive 51 semapv:ManualMappingCuration MONDO:0012371 Noonan syndrome 3 skos:exactMatch OMIM:609942 noonan syndrome 3 semapv:ManualMappingCuration MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch OMIM:609944 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features semapv:ManualMappingCuration MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch OMIM:609945 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia semapv:ManualMappingCuration MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch OMIM:609946 deafness, autosomal recessive 47 semapv:ManualMappingCuration MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch OMIM:609952 deafness, autosomal recessive 55 semapv:ManualMappingCuration MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:exactMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch OMIM:609955 fibromatosis, gingival, 3 semapv:ManualMappingCuration MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:exactMatch OMIM:609958 asthma-related traits, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch OMIM:609965 deafness, autosomal dominant 53 semapv:ManualMappingCuration MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:ManualMappingCuration MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 semapv:ManualMappingCuration MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch OMIM:609981 immunodeficiency 54 semapv:ManualMappingCuration MONDO:0012384 panic disorder 3 skos:exactMatch OMIM:609985 panic disorder 3 semapv:ManualMappingCuration MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:ManualMappingCuration MONDO:0012386 trichoscyphodysplasia skos:exactMatch OMIM:609990 trichoscyphodysplasia semapv:ManualMappingCuration MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:ManualMappingCuration MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch OMIM:609994 myopia 11, autosomal dominant semapv:ManualMappingCuration MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch OMIM:609995 myopia 12, autosomal dominant semapv:ManualMappingCuration MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch OMIM:610001 arthrogryposis multiplex with deafness, inguinal hernias, and early death semapv:ManualMappingCuration MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:ManualMappingCuration MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch OMIM:610015 glutamine deficiency, congenital semapv:ManualMappingCuration MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch OMIM:610017 multiple synostoses syndrome 2 semapv:ManualMappingCuration MONDO:0012395 cataract 18 skos:exactMatch OMIM:610019 cataract 18 semapv:ManualMappingCuration MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:ManualMappingCuration MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch OMIM:610023 brachydactyly, coloboma, and anterior segment dysgenesis semapv:ManualMappingCuration MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch OMIM:610024 retinal cone dystrophy 3a semapv:ManualMappingCuration MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:ManualMappingCuration MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:ManualMappingCuration MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:ManualMappingCuration MONDO:0012402 opioid dependence, susceptibility to, 1 skos:exactMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch OMIM:610069 polyposis syndrome, hereditary mixed, 2 semapv:ManualMappingCuration MONDO:0012406 hyperparathyroidism 3 skos:exactMatch OMIM:610071 hyperparathyroidism 3 semapv:ManualMappingCuration MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:ManualMappingCuration MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch OMIM:610092 microphthalmia/coloboma 3 semapv:ManualMappingCuration MONDO:0012409 isolated microphthalmia 2 skos:exactMatch OMIM:610093 microphthalmia, isolated 2 semapv:ManualMappingCuration MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch OMIM:610099 myopathy, distal, 3 semapv:ManualMappingCuration MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:ManualMappingCuration MONDO:0012412 complement component 7 deficiency skos:exactMatch OMIM:610102 complement component 7 deficiency semapv:ManualMappingCuration MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch OMIM:610125 microphthalmia, syndromic 5 semapv:ManualMappingCuration MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:ManualMappingCuration MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:ManualMappingCuration MONDO:0012416 Devriendt syndrome skos:exactMatch OMIM:610136 devriendt syndrome semapv:ManualMappingCuration MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch OMIM:610140 heart-hand syndrome, slovenian type semapv:ManualMappingCuration MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch OMIM:610143 deafness, autosomal recessive 62 semapv:ManualMappingCuration MONDO:0012419 age related macular degeneration 7 skos:exactMatch OMIM:610149 macular degeneration, age-related, 7 semapv:ManualMappingCuration MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch OMIM:610153 deafness, autosomal recessive 49 semapv:ManualMappingCuration MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch OMIM:610154 deafness, autosomal recessive 44 semapv:ManualMappingCuration MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch OMIM:610155 type 1 diabetes mellitus 19 semapv:ManualMappingCuration MONDO:0012423 MORM syndrome skos:exactMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:ManualMappingCuration MONDO:0012424 obsolete heat-shock RNA 1 skos:exactMatch OMIM:610157 heat-shock RNA 1 semapv:ManualMappingCuration MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:ManualMappingCuration MONDO:0012426 immunodeficiency 25 skos:exactMatch OMIM:610163 immunodeficiency 25 semapv:ManualMappingCuration MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch OMIM:610168 loeys-dietz syndrome 2 semapv:ManualMappingCuration MONDO:0012428 kyphoscoliosis 1 skos:exactMatch OMIM:610170 kyphoscoliosis 1 semapv:ManualMappingCuration MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch OMIM:610181 aicardi-goutieres syndrome 2 semapv:ManualMappingCuration MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:ManualMappingCuration MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch OMIM:610187 diaphragmatic hernia 3 semapv:ManualMappingCuration MONDO:0012432 Joubert syndrome 5 skos:exactMatch OMIM:610188 joubert syndrome 5 semapv:ManualMappingCuration MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch OMIM:610189 senior-loken syndrome 6 semapv:ManualMappingCuration MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:ManualMappingCuration MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch OMIM:610198 3-methylglutaconic aciduria, type 5 semapv:ManualMappingCuration MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:ManualMappingCuration MONDO:0012437 cataract 21 multiple types skos:exactMatch OMIM:610202 cataract 21, multiple types semapv:ManualMappingCuration MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch OMIM:610204 pontocerebellar hypoplasia, type 5 semapv:ManualMappingCuration MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch OMIM:610205 alagille syndrome 2 semapv:ManualMappingCuration MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:exactMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:exactMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch OMIM:610212 deafness, autosomal recessive 66 semapv:ManualMappingCuration MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:ManualMappingCuration MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:ManualMappingCuration MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch OMIM:610220 deafness, autosomal recessive 59 semapv:ManualMappingCuration MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch OMIM:610227 seborrhea-like dermatitis with psoriasiform elements semapv:ManualMappingCuration MONDO:0012447 synpolydactyly type 3 skos:exactMatch OMIM:610234 synpolydactyly 3 semapv:ManualMappingCuration MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:ManualMappingCuration MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch OMIM:610245 spinocerebellar ataxia 23 semapv:ManualMappingCuration MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch OMIM:610246 spinocerebellar ataxia 28 semapv:ManualMappingCuration MONDO:0012451 esophagitis, eosinophilic, 1 skos:exactMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:ManualMappingCuration MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch OMIM:610248 deafness, autosomal recessive 65 semapv:ManualMappingCuration MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:ManualMappingCuration MONDO:0012454 alcohol sensitivity, acute skos:exactMatch OMIM:610251 alcohol sensitivity, acute semapv:ManualMappingCuration MONDO:0012456 congenital primary aphakia skos:exactMatch OMIM:610256 anterior segment dysgenesis 2 semapv:ManualMappingCuration MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 semapv:ManualMappingCuration MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:exactMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:exactMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch OMIM:610265 deafness, autosomal recessive 67 semapv:ManualMappingCuration MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:ManualMappingCuration MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch OMIM:610279 pachygyria, frontotemporal semapv:ManualMappingCuration MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch OMIM:610282 retinitis pigmentosa 35 semapv:ManualMappingCuration MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch OMIM:610283 cone-rod dystrophy 10 semapv:ManualMappingCuration MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:ManualMappingCuration MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to semapv:ManualMappingCuration MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:ManualMappingCuration MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch OMIM:610319 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa semapv:ManualMappingCuration MONDO:0012469 myopia 14 skos:exactMatch OMIM:610320 myopia 14 semapv:ManualMappingCuration MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:ManualMappingCuration MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch OMIM:610329 aicardi-goutieres syndrome 3 semapv:ManualMappingCuration MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch OMIM:610333 aicardi-goutieres syndrome 4 semapv:ManualMappingCuration MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:ManualMappingCuration MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:ManualMappingCuration MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch OMIM:610356 retinal cone dystrophy 3b semapv:ManualMappingCuration MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch OMIM:610357 spastic paraplegia 30a, autosomal dominant semapv:ManualMappingCuration MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch OMIM:610359 retinitis pigmentosa 33 semapv:ManualMappingCuration MONDO:0012478 orofacial cleft 9 skos:exactMatch OMIM:610361 orofacial cleft 9 semapv:ManualMappingCuration MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch OMIM:610370 diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency semapv:ManualMappingCuration MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:ManualMappingCuration MONDO:0012481 mevalonic aciduria skos:exactMatch OMIM:610377 mevalonic aciduria semapv:ManualMappingCuration MONDO:0012482 West Nile virus, susceptibility to skos:exactMatch OMIM:610379 west nile virus, susceptibility to semapv:ManualMappingCuration MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch OMIM:610381 cone-rod dystrophy 11 semapv:ManualMappingCuration MONDO:0012484 prosopagnosia, hereditary skos:exactMatch OMIM:610382 prosopagnosia, hereditary semapv:ManualMappingCuration MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch OMIM:610419 deafness, autosomal recessive 68 semapv:ManualMappingCuration MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 semapv:ManualMappingCuration MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:ManualMappingCuration MONDO:0012488 hepatitis B virus, susceptibility to skos:exactMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:ManualMappingCuration MONDO:0012489 cataract 23 skos:exactMatch OMIM:610425 cataract 23, multiple types semapv:ManualMappingCuration MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:ManualMappingCuration MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:exactMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012492 restless legs syndrome, susceptibility to, 3 skos:exactMatch OMIM:610438 restless legs syndrome, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012493 restless legs syndrome, susceptibility to, 4 skos:exactMatch OMIM:610439 restless legs syndrome, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012494 testicular microlithiasis skos:exactMatch OMIM:610441 testicular microlithiasis semapv:ManualMappingCuration MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve type semapv:ManualMappingCuration MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch OMIM:610443 koolen-de vries syndrome semapv:ManualMappingCuration MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0012499 Buruli ulcer, susceptibility to skos:exactMatch OMIM:610446 buruli ulcer, susceptibility to semapv:ManualMappingCuration MONDO:0012500 chilblain lupus 1 skos:exactMatch OMIM:610448 chilblain lupus 1 semapv:ManualMappingCuration MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:ManualMappingCuration MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:ManualMappingCuration MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:ManualMappingCuration MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:ManualMappingCuration MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:ManualMappingCuration MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:ManualMappingCuration MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch OMIM:610478 retinal cone dystrophy 4 semapv:ManualMappingCuration MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:ManualMappingCuration MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:ManualMappingCuration MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:ManualMappingCuration MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch OMIM:610504 preterm premature rupture of the membranes semapv:ManualMappingCuration MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:ManualMappingCuration MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch OMIM:610508 maturity-onset diabetes of the young, type 7 semapv:ManualMappingCuration MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:ManualMappingCuration MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch OMIM:610535 glaucoma 1, open angle, m semapv:ManualMappingCuration MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida type semapv:ManualMappingCuration MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:ManualMappingCuration MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:ManualMappingCuration MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:ManualMappingCuration MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:ManualMappingCuration MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:ManualMappingCuration MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch OMIM:610599 retinitis pigmentosa 36 semapv:ManualMappingCuration MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:exactMatch OMIM:610600 corticosterone methyloxidase type 2 deficiency semapv:ManualMappingCuration MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch OMIM:610612 leber congenital amaurosis 12 semapv:ManualMappingCuration MONDO:0012526 hereditary angioedema type 3 skos:exactMatch OMIM:610618 angioedema, hereditary, 3 semapv:ManualMappingCuration MONDO:0012527 cataract 11 multiple types skos:exactMatch OMIM:610623 cataract 11, multiple types semapv:ManualMappingCuration MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch OMIM:610628 hypogonadotropic hypogonadism 4 with or without anosmia semapv:ManualMappingCuration MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch OMIM:610629 diamond-blackfan anemia 3 semapv:ManualMappingCuration MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:ManualMappingCuration MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:ManualMappingCuration MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch OMIM:610655 telangiectasia, hereditary hemorrhagic, type 4 semapv:ManualMappingCuration MONDO:0012533 autism, susceptibility to, 7 skos:exactMatch OMIM:610676 autism, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:ManualMappingCuration MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch OMIM:610680 holoprosencephaly, recurrent infections, and monocytosis semapv:ManualMappingCuration MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch OMIM:610682 osteogenesis imperfecta, type 7 semapv:ManualMappingCuration MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch OMIM:610685 split-hand/foot malformation with long bone deficiency 2 semapv:ManualMappingCuration MONDO:0012538 nemaline myopathy 7 skos:exactMatch OMIM:610687 nemaline myopathy 7 semapv:ManualMappingCuration MONDO:0012539 Joubert syndrome 6 skos:exactMatch OMIM:610688 joubert syndrome 6 semapv:ManualMappingCuration MONDO:0012540 age related macular degeneration 4 skos:exactMatch OMIM:610698 macular degeneration, age-related, 4 semapv:ManualMappingCuration MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:ManualMappingCuration MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch OMIM:610707 psoriasis 8, susceptibility to semapv:ManualMappingCuration MONDO:0012543 optic atrophy 5 skos:exactMatch OMIM:610708 optic atrophy 5 semapv:ManualMappingCuration MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:ManualMappingCuration MONDO:0012545 neutral lipid storage myopathy skos:exactMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:ManualMappingCuration MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch OMIM:610725 nephrotic syndrome, type 3 semapv:ManualMappingCuration MONDO:0012547 Noonan syndrome 4 skos:exactMatch OMIM:610733 noonan syndrome 4 semapv:ManualMappingCuration MONDO:0012548 Kostmann syndrome skos:exactMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:ManualMappingCuration MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0012550 iris pattern skos:exactMatch OMIM:610744 iris pattern semapv:ManualMappingCuration MONDO:0012551 alopecia areata 2 skos:exactMatch OMIM:610753 alopecia areata 2 semapv:ManualMappingCuration MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch OMIM:610755 multiple endocrine neoplasia, type 4 semapv:ManualMappingCuration MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch OMIM:610756 cerebrooculofacioskeletal syndrome 2 semapv:ManualMappingCuration MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch OMIM:610758 cerebrooculofacioskeletal syndrome 4 semapv:ManualMappingCuration MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects semapv:ManualMappingCuration MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch OMIM:610768 congenital disorder of glycosylation, type im semapv:ManualMappingCuration MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:ManualMappingCuration MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch OMIM:610797 epiphyseal dysplasia, baumann type semapv:ManualMappingCuration MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch OMIM:610798 immunodeficiency due to defect 1n mapbp-interacting protein semapv:ManualMappingCuration MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:ManualMappingCuration MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch OMIM:610805 congenital anomalies of kidney and urinary tract 1 semapv:ManualMappingCuration MONDO:0012562 holoprosencephaly 7 skos:exactMatch OMIM:610828 holoprosencephaly 7 semapv:ManualMappingCuration MONDO:0012563 holoprosencephaly 9 skos:exactMatch OMIM:610829 holoprosencephaly 9 semapv:ManualMappingCuration MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch OMIM:610830 polyosteolysis-hyperostosis syndrome semapv:ManualMappingCuration MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch OMIM:610832 fanconi anemia, complementation group n semapv:ManualMappingCuration MONDO:0012566 autism, susceptibility to, 11 skos:exactMatch OMIM:610836 autism, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0012567 autism, susceptibility to, 12 skos:exactMatch OMIM:610838 autism, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0012568 osteoarthritis susceptibility 4 skos:exactMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:ManualMappingCuration MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch OMIM:610840 mitral valve prolapse 3 semapv:ManualMappingCuration MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:ManualMappingCuration MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:ManualMappingCuration MONDO:0012572 Sakoda complex skos:exactMatch OMIM:610871 sakoda complex semapv:ManualMappingCuration MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch OMIM:610878 vesicoureteral reflux 2 semapv:ManualMappingCuration MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch OMIM:610883 potocki-lupski syndrome semapv:ManualMappingCuration MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch OMIM:610896 branchiootorenal syndrome 2 semapv:ManualMappingCuration MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch OMIM:610898 supranuclear palsy, progressive, 3 semapv:ManualMappingCuration MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:exactMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012578 autism, susceptibility to, 13 skos:exactMatch OMIM:610908 autism, susceptibility to, 13 semapv:ManualMappingCuration MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:ManualMappingCuration MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch OMIM:610915 osteogenesis imperfecta, type 8 semapv:ManualMappingCuration MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:ManualMappingCuration MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch OMIM:610926 tooth agenesis, selective, 5 semapv:ManualMappingCuration MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:exactMatch OMIM:610938 coronary heart disease, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch OMIM:610947 coronary artery disease, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:exactMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:ManualMappingCuration MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch OMIM:610954 pitt-hopkins syndrome semapv:ManualMappingCuration MONDO:0012590 XFE progeroid syndrome skos:exactMatch OMIM:610965 xfe progeroid syndrome semapv:ManualMappingCuration MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch OMIM:610967 osteogenesis imperfecta, type 5 semapv:ManualMappingCuration MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch OMIM:610968 osteogenesis imperfecta, type 11 semapv:ManualMappingCuration MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:ManualMappingCuration MONDO:0012594 complement factor I deficiency skos:exactMatch OMIM:610984 complement factor 1 deficiency semapv:ManualMappingCuration MONDO:0012595 leprosy, susceptibility to, 4 skos:exactMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012596 PSAT deficiency skos:exactMatch OMIM:610992 phosphoserine aminotransferase deficiency semapv:ManualMappingCuration MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch OMIM:610997 prostate cancer, hereditary, 9 semapv:ManualMappingCuration MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch OMIM:611010 fibromatosis, gingival, 4 semapv:ManualMappingCuration MONDO:0012599 hypertension, essential, susceptibility to, 8 skos:exactMatch OMIM:611014 hypertension, essential, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012600 autism, susceptibility to, 9 skos:exactMatch OMIM:611015 autism, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012601 autism, susceptibility to, 10 skos:exactMatch OMIM:611016 autism, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch OMIM:611022 deafness, autosomal recessive 24 semapv:ManualMappingCuration MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration MONDO:0012604 isolated microphthalmia 3 skos:exactMatch OMIM:611038 microphthalmia, syndromic 16 semapv:ManualMappingCuration MONDO:0012605 isolated microphthalmia 5 skos:exactMatch OMIM:611040 microphthalmia, isolated 5 semapv:ManualMappingCuration MONDO:0012606 Mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:exactMatch OMIM:611064 asthma-related traits, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch OMIM:611067 neuronopathy, distal hereditary motor, autosomal recessive 4 semapv:ManualMappingCuration MONDO:0012609 Alzheimer disease 12 skos:exactMatch OMIM:611073 alzheimer disease 12 semapv:ManualMappingCuration MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch OMIM:611081 inflammatory bowel disease (crohn disease) 10 semapv:ManualMappingCuration MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:ManualMappingCuration MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:ManualMappingCuration MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:ManualMappingCuration MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:ManualMappingCuration MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:ManualMappingCuration MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch OMIM:611100 prostate cancer, hereditary, 10 semapv:ManualMappingCuration MONDO:0012621 deafness-infertility syndrome skos:exactMatch OMIM:611102 deafness-infertility syndrome semapv:ManualMappingCuration MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:ManualMappingCuration MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:ManualMappingCuration MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch OMIM:611126 mitochondrial complex 1 deficiency, nuclear type 20 semapv:ManualMappingCuration MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch OMIM:611131 retinitis pigmentosa 37 semapv:ManualMappingCuration MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch OMIM:611134 meckel syndrome, type 4 semapv:ManualMappingCuration MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:ManualMappingCuration MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch OMIM:611139 coronary heart disease, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration MONDO:0012630 Alzheimer disease 13 skos:exactMatch OMIM:611152 alzheimer disease 13 semapv:ManualMappingCuration MONDO:0012631 Alzheimer disease 14 skos:exactMatch OMIM:611154 alzheimer disease 14 semapv:ManualMappingCuration MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch OMIM:611174 hamamy syndrome semapv:ManualMappingCuration MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch OMIM:611182 congenital disorder of glycosylation, type iih semapv:ManualMappingCuration MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch OMIM:611209 congenital disorder of glycosylation, type iig semapv:ManualMappingCuration MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch OMIM:611222 microphthalmia, syndromic 10 semapv:ManualMappingCuration MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch OMIM:611225 spastic paraplegia 18b, autosomal recessive semapv:ManualMappingCuration MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j semapv:ManualMappingCuration MONDO:0012641 restless legs syndrome, susceptibility to, 5 skos:exactMatch OMIM:611242 restless legs syndrome, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012642 major affective disorder 4 skos:exactMatch OMIM:611247 major affective disorder 4 semapv:ManualMappingCuration MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:ManualMappingCuration MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly semapv:ManualMappingCuration MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:ManualMappingCuration MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:ManualMappingCuration MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch OMIM:611291 immunodeficiency 124, severe combined semapv:ManualMappingCuration MONDO:0012651 spastic ataxia 2 skos:exactMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:ManualMappingCuration MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:ManualMappingCuration MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:ManualMappingCuration MONDO:0012654 atrial septal defect 4 skos:exactMatch OMIM:611363 atrial septal defect 4 semapv:ManualMappingCuration MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch OMIM:611369 lethal congenital contracture syndrome 3 semapv:ManualMappingCuration MONDO:0012657 Mungan syndrome skos:exactMatch OMIM:611376 mungan syndrome semapv:ManualMappingCuration MONDO:0012658 brachydactyly type B2 skos:exactMatch OMIM:611377 brachydactyly, type b2 semapv:ManualMappingCuration MONDO:0012659 age related macular degeneration 9 skos:exactMatch OMIM:611378 macular degeneration, age-related, 9 semapv:ManualMappingCuration MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:exactMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:exactMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012662 Usher syndrome type 2D skos:exactMatch OMIM:611383 usher syndrome, type 2d semapv:ManualMappingCuration MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:ManualMappingCuration MONDO:0012664 spastic ataxia 3 skos:exactMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:ManualMappingCuration MONDO:0012665 cataract 33 skos:exactMatch OMIM:611391 cataract 33, multiple types semapv:ManualMappingCuration MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:ManualMappingCuration MONDO:0012668 Tented eyebrows skos:exactMatch OMIM:611426 tented eyebrows semapv:ManualMappingCuration MONDO:0012669 Legius syndrome skos:exactMatch OMIM:611431 legius syndrome semapv:ManualMappingCuration MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch OMIM:611451 deafness, autosomal recessive 63 semapv:ManualMappingCuration MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch OMIM:611456 tremor, hereditary essential, 3 semapv:ManualMappingCuration MONDO:0012672 cholelithiasis skos:exactMatch OMIM:611465 gallbladder disease 4 semapv:ManualMappingCuration MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:exactMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012674 age related macular degeneration 10 skos:exactMatch OMIM:611488 macular degeneration, age-related, 10 semapv:ManualMappingCuration MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:ManualMappingCuration MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:ManualMappingCuration MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:ManualMappingCuration MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 atrial fibrillation, familial, 5 semapv:ManualMappingCuration MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0012680 nephronophthisis 7 skos:exactMatch OMIM:611498 nephronophthisis 7 semapv:ManualMappingCuration MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch OMIM:611515 febrile seizures, familial, 7 semapv:ManualMappingCuration MONDO:0012682 immunodeficiency 35 skos:exactMatch OMIM:611521 immunodeficiency 35 semapv:ManualMappingCuration MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch OMIM:611523 pontocerebellar hypoplasia, type 6 semapv:ManualMappingCuration MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:ManualMappingCuration MONDO:0012685 major affective disorder 5 skos:exactMatch OMIM:611535 major affective disorder 5 semapv:ManualMappingCuration MONDO:0012686 major affective disorder 6 skos:exactMatch OMIM:611536 major affective disorder 6 semapv:ManualMappingCuration MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch OMIM:611543 cavitary optic disc anomalies semapv:ManualMappingCuration MONDO:0012688 cataract 17 multiple types skos:exactMatch OMIM:611544 cataract 17, multiple types semapv:ManualMappingCuration MONDO:0012689 premature ovarian failure 5 skos:exactMatch OMIM:611548 premature ovarian failure 5 semapv:ManualMappingCuration MONDO:0012690 Noonan syndrome 5 skos:exactMatch OMIM:611553 noonan syndrome 5 semapv:ManualMappingCuration MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch OMIM:611554 leopard syndrome 2 semapv:ManualMappingCuration MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies semapv:ManualMappingCuration MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch OMIM:611556 glycogen storage disease 0, muscle semapv:ManualMappingCuration MONDO:0012694 Joubert syndrome 7 skos:exactMatch OMIM:611560 joubert syndrome 7 semapv:ManualMappingCuration MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch OMIM:611561 meckel syndrome, type 5 semapv:ManualMappingCuration MONDO:0012696 otosclerosis 4 skos:exactMatch OMIM:611571 otosclerosis 4 semapv:ManualMappingCuration MONDO:0012697 otosclerosis 7 skos:exactMatch OMIM:611572 otosclerosis 7 semapv:ManualMappingCuration MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch OMIM:611584 waardenburg syndrome, type 2e semapv:ManualMappingCuration MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 semapv:ManualMappingCuration MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:ManualMappingCuration MONDO:0012701 cataract 12 multiple types skos:exactMatch OMIM:611597 cataract 12, multiple types semapv:ManualMappingCuration MONDO:0012702 celiac disease, susceptibility to, 6 skos:exactMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch OMIM:611603 lissencephaly 3 semapv:ManualMappingCuration MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:ManualMappingCuration MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:ManualMappingCuration MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:ManualMappingCuration MONDO:0012707 familial febrile seizures 9 skos:exactMatch OMIM:611634 febrile seizures, familial, 9 semapv:ManualMappingCuration MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:ManualMappingCuration MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch OMIM:611638 microphthalmia/coloboma 5 semapv:ManualMappingCuration MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:exactMatch OMIM:611644 hirschsprung disease, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch OMIM:611650 peripapillary atrophy, beta type semapv:ManualMappingCuration MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch OMIM:611694 dystonia with cerebellar atrophy semapv:ManualMappingCuration MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch OMIM:611702 spondylometaphyseal dysplasia, east african type semapv:ManualMappingCuration MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:ManualMappingCuration MONDO:0012715 migraine with or without aura, susceptibility to, 12 skos:exactMatch OMIM:611706 migraine with or without aura, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:ManualMappingCuration MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch OMIM:611718 hypomagnesemia 4, renal semapv:ManualMappingCuration MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:ManualMappingCuration MONDO:0012719 combined PSAP deficiency skos:exactMatch OMIM:611721 combined saposin deficiency semapv:ManualMappingCuration MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:ManualMappingCuration MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:ManualMappingCuration MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch OMIM:611733 dauwerse-peters syndrome semapv:ManualMappingCuration MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch OMIM:611755 leber congenital amaurosis 10 semapv:ManualMappingCuration MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch OMIM:611762 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch OMIM:611771 lipoprotein glomerulopathy semapv:ManualMappingCuration MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:ManualMappingCuration MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch OMIM:611775 kawasaki disease semapv:ManualMappingCuration MONDO:0012728 Brugada syndrome 2 skos:exactMatch OMIM:611777 brugada syndrome 2 semapv:ManualMappingCuration MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch OMIM:611783 erythrocytosis, familial, 4 semapv:ManualMappingCuration MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:ManualMappingCuration MONDO:0012731 elliptocytosis 1 skos:exactMatch OMIM:611804 elliptocytosis 1 semapv:ManualMappingCuration MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch OMIM:611808 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus semapv:ManualMappingCuration MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:ManualMappingCuration MONDO:0012734 SERKAL syndrome skos:exactMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:ManualMappingCuration MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch OMIM:611816 temple-baraitser syndrome semapv:ManualMappingCuration MONDO:0012736 long QT syndrome 9 skos:exactMatch OMIM:611818 long qt syndrome 9 semapv:ManualMappingCuration MONDO:0012737 long QT syndrome 10 skos:exactMatch OMIM:611819 long qt syndrome 10 semapv:ManualMappingCuration MONDO:0012738 long QT syndrome 11 skos:exactMatch OMIM:611820 long qt syndrome 11 semapv:ManualMappingCuration MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:ManualMappingCuration MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:ManualMappingCuration MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch OMIM:611868 prostate cancer, hereditary, 12 semapv:ManualMappingCuration MONDO:0012742 Brugada syndrome 3 skos:exactMatch OMIM:611875 brugada syndrome 3 semapv:ManualMappingCuration MONDO:0012743 Brugada syndrome 4 skos:exactMatch OMIM:611876 brugada syndrome 4 semapv:ManualMappingCuration MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:ManualMappingCuration MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:ManualMappingCuration MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:ManualMappingCuration MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch OMIM:611881 glycogen storage disease 12 semapv:ManualMappingCuration MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:ManualMappingCuration MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch OMIM:611886 mesomelic dysplasia, camera type semapv:ManualMappingCuration MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch OMIM:611890 congenital arthrogryposis with anterior horn cell disease semapv:ManualMappingCuration MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch OMIM:611891 aortic aneurysm, familial abdominal, 3 semapv:ManualMappingCuration MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:ManualMappingCuration MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch OMIM:611895 amyotrophic lateral sclerosis 9 semapv:ManualMappingCuration MONDO:0012754 nanophthalmos 3 skos:exactMatch OMIM:611897 nanophthalmos 3 semapv:ManualMappingCuration MONDO:0012755 episodic ataxia type 7 skos:exactMatch OMIM:611907 episodic ataxia, type 7 semapv:ManualMappingCuration MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:ManualMappingCuration MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:ManualMappingCuration MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch OMIM:611928 prostate cancer, hereditary, 13 semapv:ManualMappingCuration MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch OMIM:611929 camptodactyly syndrome, guadalajara, type 3 semapv:ManualMappingCuration MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:ManualMappingCuration MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:ManualMappingCuration MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012764 RIDDLE syndrome skos:exactMatch OMIM:611943 riddle syndrome semapv:ManualMappingCuration MONDO:0012765 lymphatic malformation 2 skos:exactMatch OMIM:611944 lymphatic malformation 2 semapv:ManualMappingCuration MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:ManualMappingCuration MONDO:0012767 age related macular degeneration 11 skos:exactMatch OMIM:611953 macular degeneration, age-related, 11 semapv:ManualMappingCuration MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch OMIM:611955 prostate cancer, hereditary, 11 semapv:ManualMappingCuration MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch OMIM:611958 prostate cancer, hereditary, 14 semapv:ManualMappingCuration MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch OMIM:611959 prostate cancer, hereditary, 15 semapv:ManualMappingCuration MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:exactMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch OMIM:611961 stevenson-carey syndrome semapv:ManualMappingCuration MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch OMIM:611962 hunter-macdonald syndrome semapv:ManualMappingCuration MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:ManualMappingCuration MONDO:0012775 thrombocytopenia 4 skos:exactMatch OMIM:612004 thrombocytopenia 4 semapv:ManualMappingCuration MONDO:0012776 celiac disease, susceptibility to, 7 skos:exactMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012777 celiac disease, susceptibility to, 8 skos:exactMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012778 celiac disease, susceptibility to, 9 skos:exactMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012779 celiac disease, susceptibility to, 10 skos:exactMatch OMIM:612008 celiac disease, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0012780 celiac disease, susceptibility to, 11 skos:exactMatch OMIM:612009 celiac disease, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0012781 celiac disease, susceptibility to, 12 skos:exactMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0012782 celiac disease, susceptibility to, 13 skos:exactMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:ManualMappingCuration MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch OMIM:612015 congenital disorder of glycosylation, type in semapv:ManualMappingCuration MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:ManualMappingCuration MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 semapv:ManualMappingCuration MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch OMIM:612018 cataract 47 semapv:ManualMappingCuration MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:ManualMappingCuration MONDO:0012788 coronary heart disease, susceptibility to, 9 skos:exactMatch OMIM:612030 coronary heart disease, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012789 dystonia 16 skos:exactMatch OMIM:612067 dystonia 16 semapv:ManualMappingCuration MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:ManualMappingCuration MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:ManualMappingCuration MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) semapv:ManualMappingCuration MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch OMIM:612076 hypouricemia, renal, 2 semapv:ManualMappingCuration MONDO:0012794 ANE syndrome skos:exactMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:ManualMappingCuration MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch OMIM:612089 hypophosphatemic rickets and hyperparathyroidism semapv:ManualMappingCuration MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch OMIM:612095 retinitis pigmentosa 41 semapv:ManualMappingCuration MONDO:0012797 otosclerosis 8 skos:exactMatch OMIM:612096 otosclerosis 8 semapv:ManualMappingCuration MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops semapv:ManualMappingCuration MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:ManualMappingCuration MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:ManualMappingCuration MONDO:0012801 autism, susceptibility to, 15 skos:exactMatch OMIM:612100 autism, susceptibility to, 15 semapv:ManualMappingCuration MONDO:0012802 oculoauricular syndrome skos:exactMatch OMIM:612109 oculoauricular syndrome semapv:ManualMappingCuration MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch OMIM:612119 trehalase deficiency semapv:ManualMappingCuration MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:ManualMappingCuration MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:ManualMappingCuration MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 ectodermal dysplasia and immunodeficiency 2 semapv:ManualMappingCuration MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch OMIM:612138 epidermolysis bullosa simplex 5c, with pyloric atresia semapv:ManualMappingCuration MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:ManualMappingCuration MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch OMIM:612160 histiocytoma, angiomatoid fibrous semapv:ManualMappingCuration MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:ManualMappingCuration MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:ManualMappingCuration MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch OMIM:612164 developmental and epileptic encephalopathy 4 semapv:ManualMappingCuration MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch OMIM:612165 retinitis pigmentosa 29 semapv:ManualMappingCuration MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch OMIM:612198 diastasis recti and weakness of the linea alba semapv:ManualMappingCuration MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:ManualMappingCuration MONDO:0012817 Ewing sarcoma skos:exactMatch OMIM:612219 ewing sarcoma semapv:ManualMappingCuration MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch OMIM:612225 maturity-onset diabetes of the young, type 9 semapv:ManualMappingCuration MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:exactMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:exactMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:exactMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:exactMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:ManualMappingCuration MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:ManualMappingCuration MONDO:0012826 scoliosis, isolated, susceptibility to, 4 skos:exactMatch OMIM:612238 scoliosis, isolated, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012827 scoliosis, isolated, susceptibility to, 5 skos:exactMatch OMIM:612239 scoliosis, isolated, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch OMIM:612240 atrial fibrillation, familial, 7 semapv:ManualMappingCuration MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch OMIM:612241 inflammatory bowel disease 12 semapv:ManualMappingCuration MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:ManualMappingCuration MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch OMIM:612244 inflammatory bowel disease 13 semapv:ManualMappingCuration MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch OMIM:612245 inflammatory bowel disease 14 semapv:ManualMappingCuration MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:ManualMappingCuration MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch OMIM:612255 inflammatory bowel disease 15 semapv:ManualMappingCuration MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch OMIM:612259 inflammatory bowel disease 16 semapv:ManualMappingCuration MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch OMIM:612260 immunodeficiency 68 semapv:ManualMappingCuration MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch OMIM:612261 inflammatory bowel disease 17 semapv:ManualMappingCuration MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch OMIM:612262 inflammatory bowel disease 18 semapv:ManualMappingCuration MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:ManualMappingCuration MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch OMIM:612278 inflammatory bowel disease (crohn disease) 19 semapv:ManualMappingCuration MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch OMIM:612279 generalized epilepsy with febrile seizures plus, type 6 semapv:ManualMappingCuration MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch OMIM:612284 meckel syndrome, type 6 semapv:ManualMappingCuration MONDO:0012849 Joubert syndrome 9 skos:exactMatch OMIM:612285 joubert syndrome 9 semapv:ManualMappingCuration MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:ManualMappingCuration MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:ManualMappingCuration MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch OMIM:612288 inflammatory bowel disease 20 semapv:ManualMappingCuration MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch OMIM:612289 fontaine progeroid syndrome semapv:ManualMappingCuration MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:ManualMappingCuration MONDO:0012855 Joubert syndrome 8 skos:exactMatch OMIM:612291 joubert syndrome 8 semapv:ManualMappingCuration MONDO:0012856 Birk-Barel syndrome skos:exactMatch OMIM:612292 birk-barel syndrome semapv:ManualMappingCuration MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic type semapv:ManualMappingCuration MONDO:0012858 primary CD59 deficiency skos:exactMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:ManualMappingCuration MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:ManualMappingCuration MONDO:0012861 premature ovarian failure 6 skos:exactMatch OMIM:612310 premature ovarian failure 6 semapv:ManualMappingCuration MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch OMIM:612313 GLASS syndrome semapv:ManualMappingCuration MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch OMIM:612318 pseudofolliculitis barbae semapv:ManualMappingCuration MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:ManualMappingCuration MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:ManualMappingCuration MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant semapv:ManualMappingCuration MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:ManualMappingCuration MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch OMIM:612345 chromosome 2q31.2 deletion syndrome semapv:ManualMappingCuration MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:ManualMappingCuration MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:ManualMappingCuration MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:ManualMappingCuration MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch OMIM:612353 porokeratosis 6, multiple types semapv:ManualMappingCuration MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch OMIM:612354 inflammatory bowel disease 21 semapv:ManualMappingCuration MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch OMIM:612356 heparin cofactor 2 deficiency semapv:ManualMappingCuration MONDO:0012877 major affective disorder 8 skos:exactMatch OMIM:612357 major affective disorder 8 semapv:ManualMappingCuration MONDO:0012879 schizophrenia 14 skos:exactMatch OMIM:612361 schizophrenia 14 semapv:ManualMappingCuration MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia semapv:ManualMappingCuration MONDO:0012881 major affective disorder 7 skos:exactMatch OMIM:612371 major affective disorder 7 semapv:ManualMappingCuration MONDO:0012882 major affective disorder 9 skos:exactMatch OMIM:612372 major affective disorder 9 semapv:ManualMappingCuration MONDO:0012883 acute promyelocytic leukemia skos:exactMatch OMIM:612376 acute promyelocytic leukemia semapv:ManualMappingCuration MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 semapv:ManualMappingCuration MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch OMIM:612379 congenital disorder of glycosylation, type iq semapv:ManualMappingCuration MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch OMIM:612380 inflammatory bowel disease 22 semapv:ManualMappingCuration MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch OMIM:612381 inflammatory bowel disease 23 semapv:ManualMappingCuration MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 sarcoidosis, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch OMIM:612389 pontocerebellar hypoplasia, type 2b semapv:ManualMappingCuration MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch OMIM:612390 pontocerebellar hypoplasia, type 2c semapv:ManualMappingCuration MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch OMIM:612394 BCARD syndrome semapv:ManualMappingCuration MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:ManualMappingCuration MONDO:0012894 osteoarthritis susceptibility 6 skos:exactMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:ManualMappingCuration MONDO:0012895 torsion dystonia 17 skos:exactMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:ManualMappingCuration MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch OMIM:612410 psoriasis 10, susceptibility to semapv:ManualMappingCuration MONDO:0012897 congenital factor XI deficiency skos:exactMatch OMIM:612416 factor 11 deficiency semapv:ManualMappingCuration MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch OMIM:612417 narcolepsy 4, susceptibility to semapv:ManualMappingCuration MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch OMIM:612421 alopecia, androgenetic, 3 semapv:ManualMappingCuration MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch OMIM:612422 cardiomyopathy, familial restrictive, 3 semapv:ManualMappingCuration MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:ManualMappingCuration MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch OMIM:612431 deafness, autosomal dominant 27 semapv:ManualMappingCuration MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch OMIM:612433 deafness, autosomal recessive 45 semapv:ManualMappingCuration MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch OMIM:612437 epilepsy, progressive myoclonic, 1b semapv:ManualMappingCuration MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:ManualMappingCuration MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:ManualMappingCuration MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:ManualMappingCuration MONDO:0012908 complement component 6 deficiency skos:exactMatch OMIM:612446 complement component 6 deficiency semapv:ManualMappingCuration MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0012910 age-related hearing impairment 1 skos:exactMatch OMIM:612448 age-related hearing impairment 1 semapv:ManualMappingCuration MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch OMIM:612462 pseudohypoparathyroidism, type 1c semapv:ManualMappingCuration MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:ManualMappingCuration MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch OMIM:612469 WAGRO syndrome semapv:ManualMappingCuration MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:ManualMappingCuration MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch OMIM:612475 chromosome 1q21.1 duplication syndrome semapv:ManualMappingCuration MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch OMIM:612513 chromosome 2p16.1-p15 deletion syndrome semapv:ManualMappingCuration MONDO:0012917 specific language impairment 4 skos:exactMatch OMIM:612514 specific language impairment 4 semapv:ManualMappingCuration MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:ManualMappingCuration MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch OMIM:612520 type 1 diabetes mellitus 20 semapv:ManualMappingCuration MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch OMIM:612521 type 1 diabetes mellitus 21 semapv:ManualMappingCuration MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch OMIM:612522 type 1 diabetes mellitus 22 semapv:ManualMappingCuration MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 semapv:ManualMappingCuration MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch OMIM:612526 lipodystrophy, congenital generalized, type 3 semapv:ManualMappingCuration MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch OMIM:612527 diamond-blackfan anemia 4 semapv:ManualMappingCuration MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch OMIM:612528 diamond-blackfan anemia 5 semapv:ManualMappingCuration MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:ManualMappingCuration MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:ManualMappingCuration MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:ManualMappingCuration MONDO:0012929 Compton-North congenital myopathy skos:exactMatch OMIM:612540 congenital myopathy 12 semapv:ManualMappingCuration MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:ManualMappingCuration MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to semapv:ManualMappingCuration MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch OMIM:612554 myopia 16, autosomal dominant semapv:ManualMappingCuration MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch OMIM:612561 diamond-blackfan anemia 6 semapv:ManualMappingCuration MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch OMIM:612562 diamond-blackfan anemia 7 semapv:ManualMappingCuration MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch OMIM:612563 diamond-blackfan anemia 8 semapv:ManualMappingCuration MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch OMIM:612566 inflammatory bowel disease 24 semapv:ManualMappingCuration MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:ManualMappingCuration MONDO:0012942 lung cancer susceptibility 3 skos:exactMatch OMIM:612571 lung cancer susceptibility 3 semapv:ManualMappingCuration MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch OMIM:612572 retinitis pigmentosa 46 semapv:ManualMappingCuration MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:ManualMappingCuration MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch OMIM:612577 amyotrophic lateral sclerosis 11 semapv:ManualMappingCuration MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:ManualMappingCuration MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch OMIM:612582 chromosome 6pter-p24 deletion syndrome semapv:ManualMappingCuration MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:ManualMappingCuration MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:ManualMappingCuration MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:exactMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:exactMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:exactMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:exactMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch OMIM:612593 lung cancer susceptibility 4 semapv:ManualMappingCuration MONDO:0012956 multiple sclerosis, susceptibility to, 2 skos:exactMatch OMIM:612594 multiple sclerosis, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012957 multiple sclerosis, susceptibility to, 3 skos:exactMatch OMIM:612595 multiple sclerosis, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012958 multiple sclerosis, susceptibility to, 4 skos:exactMatch OMIM:612596 multiple sclerosis, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch OMIM:612599 psoriasis 11, susceptibility to semapv:ManualMappingCuration MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:ManualMappingCuration MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch OMIM:612622 type 1 diabetes mellitus 23 semapv:ManualMappingCuration MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch OMIM:612626 chromosome 15q26-qter deletion syndrome semapv:ManualMappingCuration MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:ManualMappingCuration MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 semapv:ManualMappingCuration MONDO:0012968 Usher syndrome type 1H skos:exactMatch OMIM:612632 usher syndrome, type 1h semapv:ManualMappingCuration MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch OMIM:612637 febrile seizures, familial, 10 semapv:ManualMappingCuration MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch OMIM:612639 inflammatory bowel disease 26 semapv:ManualMappingCuration MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch OMIM:612642 deafness, autosomal dominant 59 semapv:ManualMappingCuration MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch OMIM:612643 deafness, autosomal dominant 3b semapv:ManualMappingCuration MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch OMIM:612644 deafness, autosomal dominant 2b semapv:ManualMappingCuration MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch OMIM:612645 deafness, autosomal recessive 1b semapv:ManualMappingCuration MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:ManualMappingCuration MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:ManualMappingCuration MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:ManualMappingCuration MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch OMIM:612653 spherocytosis, type 4 semapv:ManualMappingCuration MONDO:0012982 episodic ataxia type 6 skos:exactMatch OMIM:612656 episodic ataxia, type 6 semapv:ManualMappingCuration MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch OMIM:612657 cone-rod dystrophy 12 semapv:ManualMappingCuration MONDO:0012984 PHARC syndrome skos:exactMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:ManualMappingCuration MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch OMIM:612690 spherocytosis, type 5 semapv:ManualMappingCuration MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:ManualMappingCuration MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:ManualMappingCuration MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch OMIM:612702 hypogonadotropic hypogonadism 6 with or without anosmia semapv:ManualMappingCuration MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch OMIM:612703 microcephaly 7, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch OMIM:612712 leber congenital amaurosis 13 semapv:ManualMappingCuration MONDO:0012991 Kahrizi syndrome skos:exactMatch OMIM:612713 kahrizi syndrome semapv:ManualMappingCuration MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:ManualMappingCuration MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch OMIM:612715 dyschromatosis universalis hereditaria 2 semapv:ManualMappingCuration MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:ManualMappingCuration MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch OMIM:612717 myopia 15, autosomal dominant semapv:ManualMappingCuration MONDO:0012996 AGAT deficiency skos:exactMatch OMIM:612718 cerebral creatine deficiency syndrome 3 semapv:ManualMappingCuration MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch OMIM:301068 hardikar syndrome semapv:ManualMappingCuration MONDO:0012998 faciocardiomelic syndrome skos:exactMatch OMIM:612731 faciocardiomelic syndrome semapv:ManualMappingCuration MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:ManualMappingCuration MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:ManualMappingCuration MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:ManualMappingCuration MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch OMIM:612775 cone-rod dystrophy 9 semapv:ManualMappingCuration MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch OMIM:612776 hypoglossia with situs inversus semapv:ManualMappingCuration MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch OMIM:612777 hypotonia, seizures, and precocious puberty semapv:ManualMappingCuration MONDO:0013005 EAST syndrome skos:exactMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:ManualMappingCuration MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:612781 isolated growth hormone deficiency, type 1b semapv:ManualMappingCuration MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch OMIM:612782 immunodeficiency 9 semapv:ManualMappingCuration MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch OMIM:612783 immunodeficiency 10 semapv:ManualMappingCuration MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch OMIM:612785 megarbane-jalkh syndrome semapv:ManualMappingCuration MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch OMIM:612789 deafness, autosomal recessive 71 semapv:ManualMappingCuration MONDO:0013011 atrial septal defect 5 skos:exactMatch OMIM:612794 atrial septal defect 5 semapv:ManualMappingCuration MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch OMIM:612796 inflammatory bowel disease 27 semapv:ManualMappingCuration MONDO:0013013 question mark ears, isolated skos:exactMatch OMIM:612798 question mark ears, isolated semapv:ManualMappingCuration MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan type semapv:ManualMappingCuration MONDO:0013015 Brugada syndrome 5 skos:exactMatch OMIM:612838 brugada syndrome 5 semapv:ManualMappingCuration MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch OMIM:612840 leukocyte adhesion deficiency, type 3 semapv:ManualMappingCuration MONDO:0013017 hypotrichosis 5 skos:exactMatch OMIM:612841 hypotrichosis 5 semapv:ManualMappingCuration MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:ManualMappingCuration MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch OMIM:612851 narcolepsy 5, susceptibility to semapv:ManualMappingCuration MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch OMIM:612852 chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis semapv:ManualMappingCuration MONDO:0013022 restless legs syndrome, susceptibility to, 7 skos:exactMatch OMIM:612853 restless legs syndrome, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0013023 orofacial cleft 12 skos:exactMatch OMIM:612858 orofacial cleft 12 semapv:ManualMappingCuration MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:ManualMappingCuration MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch OMIM:612863 chromosome 6q24-q25 deletion syndrome semapv:ManualMappingCuration MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:ManualMappingCuration MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:ManualMappingCuration MONDO:0013029 spinocerebellar ataxia 9 skos:exactMatch OMIM:612876 spinocerebellar ataxia 9 semapv:ManualMappingCuration MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:ManualMappingCuration MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:ManualMappingCuration MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch OMIM:612899 epilepsy, idiopathic generalized, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch OMIM:612900 cerebral palsy, spastic quadriplegic, 2 semapv:ManualMappingCuration MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:ManualMappingCuration MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch OMIM:612913 orofaciodigital syndrome 11 semapv:ManualMappingCuration MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch OMIM:612916 zechi-ceide syndrome semapv:ManualMappingCuration MONDO:0013037 Giacheti syndrome skos:exactMatch OMIM:612917 giacheti syndrome semapv:ManualMappingCuration MONDO:0013038 CLOVES syndrome skos:exactMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:ManualMappingCuration MONDO:0013039 3M syndrome 2 skos:exactMatch OMIM:612921 three m syndrome 2 semapv:ManualMappingCuration MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:exactMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:exactMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:exactMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:exactMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013045 Mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch OMIM:612932 glycogen storage disease 13 semapv:ManualMappingCuration MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch OMIM:612933 glycogen storage disease 11 semapv:ManualMappingCuration MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:ManualMappingCuration MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 semapv:ManualMappingCuration MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:ManualMappingCuration MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch OMIM:612940 cutis laxa, autosomal recessive, type 2b semapv:ManualMappingCuration MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch OMIM:612943 retinitis pigmentosa 42 semapv:ManualMappingCuration MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch OMIM:612946 hadziselimovic syndrome semapv:ManualMappingCuration MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch OMIM:612947 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance semapv:ManualMappingCuration MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch OMIM:612948 stargardt macular degeneration, absent or hypoplastic corpus callosum, impaired intellectual development, and dysmorphic facial features semapv:ManualMappingCuration MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:ManualMappingCuration MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch OMIM:612950 psoriasis 12, susceptibility to semapv:ManualMappingCuration MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:ManualMappingCuration MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch OMIM:612952 aicardi-goutieres syndrome 5 semapv:ManualMappingCuration MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:ManualMappingCuration MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:ManualMappingCuration MONDO:0013062 long QT syndrome 12 skos:exactMatch OMIM:612955 long qt syndrome 12 semapv:ManualMappingCuration MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 semapv:ManualMappingCuration MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch OMIM:612961 multiple synostoses syndrome 3 semapv:ManualMappingCuration MONDO:0013065 premature ovarian failure 7 skos:exactMatch OMIM:612964 premature ovarian failure 7 semapv:ManualMappingCuration MONDO:0013066 46,XY sex reversal 3 skos:exactMatch OMIM:612965 46,xy sex reversal 3 semapv:ManualMappingCuration MONDO:0013067 cataract 34 multiple types skos:exactMatch OMIM:612968 cataract 34, multiple types semapv:ManualMappingCuration MONDO:0013068 age-related hearing impairment 2 skos:exactMatch OMIM:612976 age-related hearing impairment 2 semapv:ManualMappingCuration MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:ManualMappingCuration MONDO:0013070 spermatogenic failure 7 skos:exactMatch OMIM:612997 spermatogenic failure 7 semapv:ManualMappingCuration MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:ManualMappingCuration MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:ManualMappingCuration MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:ManualMappingCuration MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch OMIM:613001 encephalocraniocutaneous lipomatosis semapv:ManualMappingCuration MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch OMIM:613003 attention deficit-hyperactivity disorder, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0013077 Santos syndrome skos:exactMatch OMIM:613005 santos syndrome semapv:ManualMappingCuration MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch OMIM:613006 type 1 diabetes mellitus 24 semapv:ManualMappingCuration MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:ManualMappingCuration MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:ManualMappingCuration MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch OMIM:613011 lymphoproliferative syndrome 1 semapv:ManualMappingCuration MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:exactMatch OMIM:613014 neuroblastoma, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:exactMatch OMIM:613015 neuroblastoma, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:exactMatch OMIM:613016 neuroblastoma, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:exactMatch OMIM:613017 neuroblastoma, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:ManualMappingCuration MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:exactMatch OMIM:613024 follicular lymphoma, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0013089 schizophrenia 13 skos:exactMatch OMIM:613025 schizophrenia 13 semapv:ManualMappingCuration MONDO:0013091 glycogen storage disease IXc skos:exactMatch OMIM:613027 glycogen storage disease ixc semapv:ManualMappingCuration MONDO:0013092 glioma susceptibility 2 skos:exactMatch OMIM:613028 glioma susceptibility 2 semapv:ManualMappingCuration MONDO:0013093 glioma susceptibility 3 skos:exactMatch OMIM:613029 glioma susceptibility 3 semapv:ManualMappingCuration MONDO:0013094 glioma susceptibility 5 skos:exactMatch OMIM:613030 glioma susceptibility 5 semapv:ManualMappingCuration MONDO:0013095 glioma susceptibility 6 skos:exactMatch OMIM:613031 glioma susceptibility 6 semapv:ManualMappingCuration MONDO:0013096 glioma susceptibility 7 skos:exactMatch OMIM:613032 glioma susceptibility 7 semapv:ManualMappingCuration MONDO:0013097 glioma susceptibility 8 skos:exactMatch OMIM:613033 glioma susceptibility 8 semapv:ManualMappingCuration MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch OMIM:613055 atrial fibrillation, familial, 8 semapv:ManualMappingCuration MONDO:0013101 basal cell carcinoma, susceptibility to, 2 skos:exactMatch OMIM:613058 basal cell carcinoma, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013102 basal cell carcinoma, susceptibility to, 3 skos:exactMatch OMIM:613059 basal cell carcinoma, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch OMIM:613061 basal cell carcinoma, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch OMIM:613062 basal cell carcinoma, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch OMIM:613063 basal cell carcinoma, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch OMIM:613064 dermatitis, atopic, 7 semapv:ManualMappingCuration MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:ManualMappingCuration MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:ManualMappingCuration MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch OMIM:613070 liver failure, infantile, transient semapv:ManualMappingCuration MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:ManualMappingCuration MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch OMIM:613073 metaphyseal anadysplasia 2 semapv:ManualMappingCuration MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch OMIM:613074 deafness, autosomal dominant 50 semapv:ManualMappingCuration MONDO:0013115 RIN2 syndrome skos:exactMatch OMIM:613075 macs syndrome semapv:ManualMappingCuration MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:ManualMappingCuration MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:ManualMappingCuration MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:ManualMappingCuration MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch OMIM:613079 deafness, autosomal recessive 77 semapv:ManualMappingCuration MONDO:0013120 46,XY sex reversal 5 skos:exactMatch OMIM:613080 46,xy sex reversal 5 semapv:ManualMappingCuration MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch OMIM:613085 glaucoma 3, primary congenital, c semapv:ManualMappingCuration MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch OMIM:613086 glaucoma 3, primary congenital, d semapv:ManualMappingCuration MONDO:0013123 atrial septal defect 6 skos:exactMatch OMIM:613087 atrial septal defect 6 semapv:ManualMappingCuration MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013125 CLAPO syndrome skos:exactMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:ManualMappingCuration MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch OMIM:613091 short-rib thoracic dysplasia 3 with or without polydactyly semapv:ManualMappingCuration MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant 4 semapv:ManualMappingCuration MONDO:0013129 cone dystrophy 4 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:ManualMappingCuration MONDO:0013130 isolated microphthalmia 4 skos:exactMatch OMIM:613094 microphthalmia, isolated 4 semapv:ManualMappingCuration MONDO:0013131 polycystic kidney disease 2 skos:exactMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:ManualMappingCuration MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:ManualMappingCuration MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch OMIM:613100 glaucoma 1, open angle, o semapv:ManualMappingCuration MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease semapv:ManualMappingCuration MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:ManualMappingCuration MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:ManualMappingCuration MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch OMIM:613106 vertigo, benign recurrent, 2 semapv:ManualMappingCuration MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant semapv:ManualMappingCuration MONDO:0013140 candidiasis, familial, 4 skos:exactMatch OMIM:613108 candidiasis, familial, 4 semapv:ManualMappingCuration MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch OMIM:613115 neuropathy, hereditary sensory and autonomic, type 2b semapv:ManualMappingCuration MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:ManualMappingCuration MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch OMIM:613118 antithrombin 3 deficiency semapv:ManualMappingCuration MONDO:0013145 Brugada syndrome 6 skos:exactMatch OMIM:613119 brugada syndrome 6 semapv:ManualMappingCuration MONDO:0013146 Brugada syndrome 7 skos:exactMatch OMIM:613120 brugada syndrome 7 semapv:ManualMappingCuration MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:ManualMappingCuration MONDO:0013148 Brugada syndrome 8 skos:exactMatch OMIM:613123 brugada syndrome 8 semapv:ManualMappingCuration MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch OMIM:613124 hydrops fetalis, nonimmune, with gracile bones and dysmorphism semapv:ManualMappingCuration MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:ManualMappingCuration MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 semapv:ManualMappingCuration MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:ManualMappingCuration MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 semapv:ManualMappingCuration MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 semapv:ManualMappingCuration MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 semapv:ManualMappingCuration MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 semapv:ManualMappingCuration MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 semapv:ManualMappingCuration MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1 semapv:ManualMappingCuration MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2 semapv:ManualMappingCuration MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3 semapv:ManualMappingCuration MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 semapv:ManualMappingCuration MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch OMIM:613159 nephronophthisis-like nephropathy 1 semapv:ManualMappingCuration MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch OMIM:613161 beta-ureidopropionase deficiency semapv:ManualMappingCuration MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:ManualMappingCuration MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch OMIM:613163 gaba-transaminase deficiency semapv:ManualMappingCuration MONDO:0013167 Parkinson disease 16 skos:exactMatch OMIM:613164 parkinson disease 16 semapv:ManualMappingCuration MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:ManualMappingCuration MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch OMIM:613174 chromosome 5p13 duplication syndrome semapv:ManualMappingCuration MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch OMIM:613177 cutis laxa, autosomal recessive, type 1c semapv:ManualMappingCuration MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:ManualMappingCuration MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:ManualMappingCuration MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch OMIM:613194 retinitis pigmentosa 50 semapv:ManualMappingCuration MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch OMIM:613195 weill-marchesani syndrome 4 semapv:ManualMappingCuration MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:ManualMappingCuration MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:ManualMappingCuration MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:ManualMappingCuration MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:exactMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:ManualMappingCuration MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:ManualMappingCuration MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch OMIM:613216 night blindness, congenital stationary, type 1c semapv:ManualMappingCuration MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:ManualMappingCuration MONDO:0013185 leprosy, susceptibility to, 5 skos:exactMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0013186 Noonan syndrome 6 skos:exactMatch OMIM:613224 noonan syndrome 6 semapv:ManualMappingCuration MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch OMIM:613225 factor xiii, a subunit, deficiency of semapv:ManualMappingCuration MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch OMIM:613227 spinocerebellar ataxia, autosomal recessive 34 semapv:ManualMappingCuration MONDO:0013189 trichotillomania skos:exactMatch OMIM:613229 trichotillomania semapv:ManualMappingCuration MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch OMIM:613235 factor xiii, B subunit, deficiency of semapv:ManualMappingCuration MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:ManualMappingCuration MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013194 Pseudopili annulati skos:exactMatch OMIM:613241 pseudopili annulati semapv:ManualMappingCuration MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:ManualMappingCuration MONDO:0013196 Lynch syndrome 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:ManualMappingCuration MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:ManualMappingCuration MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:ManualMappingCuration MONDO:0013199 tuberous sclerosis 2 skos:exactMatch OMIM:613254 tuberous sclerosis 2 semapv:ManualMappingCuration MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:ManualMappingCuration MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch OMIM:613265 waardenburg syndrome, type 4b semapv:ManualMappingCuration MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch OMIM:613266 waardenburg syndrome, type 4c semapv:ManualMappingCuration MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:ManualMappingCuration MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:ManualMappingCuration MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:ManualMappingCuration MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:ManualMappingCuration MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:ManualMappingCuration MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:ManualMappingCuration MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch OMIM:613285 deafness, autosomal recessive 25 semapv:ManualMappingCuration MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:ManualMappingCuration MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch OMIM:613287 charcot-marie-tooth disease, axonal, type 2n semapv:ManualMappingCuration MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:ManualMappingCuration MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:ManualMappingCuration MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch OMIM:613307 deafness, autosomal recessive 79 semapv:ManualMappingCuration MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch OMIM:613308 diamond-blackfan anemia 9 semapv:ManualMappingCuration MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch OMIM:613309 diamond-blackfan anemia 10 semapv:ManualMappingCuration MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:ManualMappingCuration MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:ManualMappingCuration MONDO:0013220 hemochromatosis type 2B skos:exactMatch OMIM:613313 hemochromatosis, type 2b semapv:ManualMappingCuration MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:ManualMappingCuration MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:ManualMappingCuration MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki type semapv:ManualMappingCuration MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch OMIM:613325 rhabdoid tumor predisposition syndrome 2 semapv:ManualMappingCuration MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized, type 4 semapv:ManualMappingCuration MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch OMIM:613328 roifman-chitayat syndrome semapv:ManualMappingCuration MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:ManualMappingCuration MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia semapv:ManualMappingCuration MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:ManualMappingCuration MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:613341 leber congenital amaurosis 14 semapv:ManualMappingCuration MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch OMIM:613342 mseleni joint disease semapv:ManualMappingCuration MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch OMIM:613343 handigodu joint disease semapv:ManualMappingCuration MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch OMIM:613345 hypokalemic periodic paralysis, type 2 semapv:ManualMappingCuration MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:exactMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:exactMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:exactMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:ManualMappingCuration MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch OMIM:613355 chromosome 17q23.1-q23.2 deletion syndrome semapv:ManualMappingCuration MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:ManualMappingCuration MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch OMIM:613370 maturity-onset diabetes of the young, type 10 semapv:ManualMappingCuration MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch OMIM:613371 spinocerebellar ataxia 30 semapv:ManualMappingCuration MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch OMIM:613375 maturity-onset diabetes of the young, type 11 semapv:ManualMappingCuration MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch OMIM:613376 neuronopathy, distal hereditary motor, autosomal dominant 4 semapv:ManualMappingCuration MONDO:0013244 brachydactyly type E2 skos:exactMatch OMIM:613382 brachydactyly, type e2 semapv:ManualMappingCuration MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:ManualMappingCuration MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 skos:exactMatch OMIM:613387 fatty liver disease, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch OMIM:613388 fanconi renotubular syndrome 2 semapv:ManualMappingCuration MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch OMIM:613390 fanconi anemia, complementation group o semapv:ManualMappingCuration MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch OMIM:613391 deafness, autosomal recessive 84a semapv:ManualMappingCuration MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch OMIM:613392 deafness, autosomal recessive 85 semapv:ManualMappingCuration MONDO:0013251 Birbeck granule deficiency skos:exactMatch OMIM:613393 birbeck granule deficiency semapv:ManualMappingCuration MONDO:0013252 Warsaw breakage syndrome skos:exactMatch OMIM:613398 warsaw breakage syndrome semapv:ManualMappingCuration MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:ManualMappingCuration MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch OMIM:613404 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:ManualMappingCuration MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch OMIM:613406 witteveen-kolk syndrome semapv:ManualMappingCuration MONDO:0013257 leprosy, susceptibility to, 6 skos:exactMatch OMIM:613407 leprosy, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013258 autism, susceptibility to, 16 skos:exactMatch OMIM:613410 autism, susceptibility to, 16 semapv:ManualMappingCuration MONDO:0013259 Oguchi disease-2 skos:exactMatch OMIM:613411 oguchi disease 2 semapv:ManualMappingCuration MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch OMIM:613412 esophagitis, eosinophilic, 2 semapv:ManualMappingCuration MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:ManualMappingCuration MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:ManualMappingCuration MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch OMIM:613428 retinitis pigmentosa 54 semapv:ManualMappingCuration MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch OMIM:613435 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia semapv:ManualMappingCuration MONDO:0013265 autism, susceptibility to, 17 skos:exactMatch OMIM:613436 autism, susceptibility to, 17 semapv:ManualMappingCuration MONDO:0013266 intellectual disability, autosomal dominant 20 skos:exactMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:ManualMappingCuration MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:ManualMappingCuration MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch OMIM:613451 frontonasal dysplasia 2 semapv:ManualMappingCuration MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch OMIM:613453 deafness, autosomal recessive 91 semapv:ManualMappingCuration MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch OMIM:613456 frontonasal dysplasia 3 semapv:ManualMappingCuration MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch OMIM:613457 chromosome 14q11-q22 deletion syndrome semapv:ManualMappingCuration MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch OMIM:613458 chromosome 16p13.3 duplication syndrome semapv:ManualMappingCuration MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch OMIM:613464 retinitis pigmentosa 51 semapv:ManualMappingCuration MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 semapv:ManualMappingCuration MONDO:0013276 Reynolds syndrome skos:exactMatch OMIM:613471 reynolds syndrome semapv:ManualMappingCuration MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch OMIM:613477 developmental and epileptic encephalopathy 5 semapv:ManualMappingCuration MONDO:0013278 lymphatic malformation 3 skos:exactMatch OMIM:613480 lymphatic malformation 3 semapv:ManualMappingCuration MONDO:0013279 long QT syndrome 13 skos:exactMatch OMIM:613485 long qt syndrome 13 semapv:ManualMappingCuration MONDO:0013280 myxoid liposarcoma skos:exactMatch OMIM:613488 myxoid liposarcoma semapv:ManualMappingCuration MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch OMIM:613489 congenital disorder of glycosylation, type iij semapv:ManualMappingCuration MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:ManualMappingCuration MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:ManualMappingCuration MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:ManualMappingCuration MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:ManualMappingCuration MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:ManualMappingCuration MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch OMIM:613500 agammaglobulinemia 2, autosomal recessive semapv:ManualMappingCuration MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:ManualMappingCuration MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:ManualMappingCuration MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:ManualMappingCuration MONDO:0013291 glycogen storage disease XV skos:exactMatch OMIM:613507 glycogen storage disease 15 semapv:ManualMappingCuration MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch OMIM:613509 chromosome 4q21 deletion syndrome semapv:ManualMappingCuration MONDO:0013293 isolated microphthalmia 6 skos:exactMatch OMIM:613517 microphthalmia, isolated 6 semapv:ManualMappingCuration MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch OMIM:613518 dermatitis, atopic, 8 semapv:ManualMappingCuration MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch OMIM:613519 dermatitis, atopic, 9 semapv:ManualMappingCuration MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:ManualMappingCuration MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch OMIM:613530 muscular dystrophy, limb-girdle, type 1h semapv:ManualMappingCuration MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch OMIM:613533 chromosome 17q21.31 duplication syndrome semapv:ManualMappingCuration MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:exactMatch OMIM:613544 chromosome 6q11-q14 deletion syndrome semapv:ManualMappingCuration MONDO:0013300 commissural facial cleft skos:exactMatch OMIM:613545 macrostomia, isolated semapv:ManualMappingCuration MONDO:0013301 aromatase deficiency skos:exactMatch OMIM:613546 aromatase deficiency semapv:ManualMappingCuration MONDO:0013302 nephronophthisis 11 skos:exactMatch OMIM:613550 nephronophthisis 11 semapv:ManualMappingCuration MONDO:0013303 autoimmune disease, susceptibility to, 6 skos:exactMatch OMIM:613551 autoimmune disease, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013304 von Willebrand disease 2 skos:exactMatch OMIM:613554 von willebrand disease, type 2 semapv:ManualMappingCuration MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:exactMatch OMIM:613558 deafness, autosomal dominant 51 semapv:ManualMappingCuration MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:ManualMappingCuration MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 semapv:ManualMappingCuration MONDO:0013308 CBL-related disorder skos:exactMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:ManualMappingCuration MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch OMIM:613564 chromosome 2p12-p11.2 deletion syndrome semapv:ManualMappingCuration MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:ManualMappingCuration MONDO:0013312 retinitis pigmentosa 55 skos:exactMatch OMIM:613575 retinitis pigmentosa 55 semapv:ManualMappingCuration MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:ManualMappingCuration MONDO:0013314 retinitis pigmentosa 56 skos:exactMatch OMIM:613581 retinitis pigmentosa 56 semapv:ManualMappingCuration MONDO:0013315 retinitis pigmentosa 57 skos:exactMatch OMIM:613582 retinitis pigmentosa 57 semapv:ManualMappingCuration MONDO:0013316 occult macular dystrophy skos:exactMatch OMIM:613587 occult macular dystrophy semapv:ManualMappingCuration MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch OMIM:613600 torsade lange pointes, short-coupled variant semapv:ManualMappingCuration MONDO:0013318 early repolarization associated with ventricular fibrillation skos:exactMatch OMIM:613601 early repolarization associated with ventricular fibrillation semapv:ManualMappingCuration MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome skos:exactMatch OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome semapv:ManualMappingCuration MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:ManualMappingCuration MONDO:0013321 forsythe-wakeling syndrome skos:exactMatch OMIM:613606 forsythe-wakeling syndrome semapv:ManualMappingCuration MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:exactMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:ManualMappingCuration MONDO:0013323 cranioectodermal dysplasia 2 skos:exactMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:ManualMappingCuration MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:exactMatch OMIM:613611 choanal atresia and lymphedema semapv:ManualMappingCuration MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch OMIM:613612 congenital disorder of glycosylation, type iii semapv:ManualMappingCuration MONDO:0013326 Senior-Loken syndrome 7 skos:exactMatch OMIM:613615 senior-loken syndrome 7 semapv:ManualMappingCuration MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch OMIM:613616 hyperoxaluria, primary, type 3 semapv:ManualMappingCuration MONDO:0013328 retinitis pigmentosa 58 skos:exactMatch OMIM:613617 retinitis pigmentosa 58 semapv:ManualMappingCuration MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:ManualMappingCuration MONDO:0013330 agenesis of the corpus callosum and congenital lymphedema skos:exactMatch OMIM:613623 agenesis of the corpus callosum and congenital lymphedema semapv:ManualMappingCuration MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:exactMatch OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 semapv:ManualMappingCuration MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:exactMatch OMIM:613627 tsukahara syndrome semapv:ManualMappingCuration MONDO:0013333 odontoid hypoplasia skos:exactMatch OMIM:613628 odontoid hypoplasia semapv:ManualMappingCuration MONDO:0013334 cocoon syndrome skos:exactMatch OMIM:613630 fetal encasement syndrome semapv:ManualMappingCuration MONDO:0013335 tuberculin skin test reactivity, absence of skos:exactMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:ManualMappingCuration MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch OMIM:613638 chromosome 19p13.13 deletion syndrome semapv:ManualMappingCuration MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:exactMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, type 1c semapv:ManualMappingCuration MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:ManualMappingCuration MONDO:0013339 dilated cardiomyopathy 1GG skos:exactMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:ManualMappingCuration MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to semapv:ManualMappingCuration MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:ManualMappingCuration MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:ManualMappingCuration MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:exactMatch OMIM:613656 migraine with aura, susceptibility to, 13 semapv:ManualMappingCuration MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:exactMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:ManualMappingCuration MONDO:0013348 cone-rod dystrophy 15 skos:exactMatch OMIM:613660 cone-rod dystrophy 15 semapv:ManualMappingCuration MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch OMIM:613661 congenital disorder of glycosylation, type ip semapv:ManualMappingCuration MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:exactMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:ManualMappingCuration MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:ManualMappingCuration MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:ManualMappingCuration MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:exactMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:ManualMappingCuration MONDO:0013354 spastic ataxia 4 skos:exactMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:ManualMappingCuration MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch OMIM:613673 anemia, congenital dyserythropoietic, type iva semapv:ManualMappingCuration MONDO:0013356 vesicoureteral reflux 3 skos:exactMatch OMIM:613674 vesicoureteral reflux 3 semapv:ManualMappingCuration MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:ManualMappingCuration MONDO:0013358 Seckel syndrome 4 skos:exactMatch OMIM:613676 seckel syndrome 4 semapv:ManualMappingCuration MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch OMIM:613677 hyperaldosteronism, familial, type 3 semapv:ManualMappingCuration MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch OMIM:613678 brachyolmia type 2 semapv:ManualMappingCuration MONDO:0013361 congenital prothrombin deficiency skos:exactMatch OMIM:613679 prothrombin deficiency, congenital semapv:ManualMappingCuration MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:ManualMappingCuration MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:exactMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:ManualMappingCuration MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:ManualMappingCuration MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:exactMatch OMIM:613685 deafness, autosomal recessive 83 semapv:ManualMappingCuration MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch OMIM:613686 spondylocostal dysostosis 4, autosomal recessive semapv:ManualMappingCuration MONDO:0013367 long QT syndrome 2 skos:exactMatch OMIM:613688 long qt syndrome 2 semapv:ManualMappingCuration MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch OMIM:613689 mammary-digital-nail syndrome semapv:ManualMappingCuration MONDO:0013369 hypertrophic cardiomyopathy 7 skos:exactMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:ManualMappingCuration MONDO:0013370 long QT syndrome 6 skos:exactMatch OMIM:613693 long qt syndrome 6 semapv:ManualMappingCuration MONDO:0013371 dilated cardiomyopathy 1U skos:exactMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:ManualMappingCuration MONDO:0013372 long QT syndrome 5 skos:exactMatch OMIM:613695 long qt syndrome 5 semapv:ManualMappingCuration MONDO:0013373 dilated cardiomyopathy 1V skos:exactMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:ManualMappingCuration MONDO:0013374 supernumerary der(22)t(8;22) syndrome skos:exactMatch OMIM:613700 supernumerary der(22)t(8 semapv:ManualMappingCuration MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:exactMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:ManualMappingCuration MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:exactMatch OMIM:613703 microphthalmia/coloboma 6 semapv:ManualMappingCuration MONDO:0013377 isolated microphthalmia 7 skos:exactMatch OMIM:613704 microphthalmia, isolated 7 semapv:ManualMappingCuration MONDO:0013378 orofacial cleft 10 skos:exactMatch OMIM:613705 orofacial cleft 10 semapv:ManualMappingCuration MONDO:0013379 Noonan syndrome 7 skos:exactMatch OMIM:613706 noonan syndrome 7 semapv:ManualMappingCuration MONDO:0013380 LEOPARD syndrome 3 skos:exactMatch OMIM:613707 leopard syndrome 3 semapv:ManualMappingCuration MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:exactMatch OMIM:613708 neuropathy, hereditary sensory, type 1d semapv:ManualMappingCuration MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:exactMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:ManualMappingCuration MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:exactMatch OMIM:613711 hirschsprung disease, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:exactMatch OMIM:613712 hirschsprung disease, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch OMIM:613717 treacher collins syndrome 2 semapv:ManualMappingCuration MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:exactMatch OMIM:613718 deafness, autosomal recessive 74 semapv:ManualMappingCuration MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch OMIM:613720 developmental and epileptic encephalopathy 7 semapv:ManualMappingCuration MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch OMIM:613721 developmental and epileptic encephalopathy 11 semapv:ManualMappingCuration MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:exactMatch OMIM:613722 developmental and epileptic encephalopathy 12 semapv:ManualMappingCuration MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch OMIM:613723 muscular dystrophy, limb-girdle, autosomal recessive 17 semapv:ManualMappingCuration MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:ManualMappingCuration MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:ManualMappingCuration MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:exactMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:ManualMappingCuration MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:ManualMappingCuration MONDO:0013395 retinitis pigmentosa 4 skos:exactMatch OMIM:613731 retinitis pigmentosa 4 semapv:ManualMappingCuration MONDO:0013397 acne inversa, familial, 2 skos:exactMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:ManualMappingCuration MONDO:0013398 acne inversa, familial, 3 skos:exactMatch OMIM:613737 acne inversa, familial, 3 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 skos:exactMatch OMIM:613743 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete semapv:ManualMappingCuration MONDO:0013401 hereditary spastic paraplegia 51 skos:exactMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:ManualMappingCuration MONDO:0013402 retinitis pigmentosa 27 skos:exactMatch OMIM:613750 retinitis pigmentosa 27 semapv:ManualMappingCuration MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch OMIM:613751 heterotaxy, visceral, 4, autosomal semapv:ManualMappingCuration MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:ManualMappingCuration MONDO:0013405 retinitis pigmentosa 49 skos:exactMatch OMIM:613756 retinitis pigmentosa 49 semapv:ManualMappingCuration MONDO:0013406 age related macular degeneration 6 skos:exactMatch OMIM:613757 macular degeneration, age-related, 6 semapv:ManualMappingCuration MONDO:0013407 retinitis pigmentosa 47 skos:exactMatch OMIM:613758 retinitis pigmentosa 47 semapv:ManualMappingCuration MONDO:0013408 FADD-related immunodeficiency skos:exactMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:ManualMappingCuration MONDO:0013409 age related macular degeneration 5 skos:exactMatch OMIM:613761 macular degeneration, age-related, 5 semapv:ManualMappingCuration MONDO:0013410 46,XY sex reversal 6 skos:exactMatch OMIM:613762 46,xy sex reversal 6 semapv:ManualMappingCuration MONDO:0013411 cataract 16 multiple types skos:exactMatch OMIM:613763 cataract 16, multiple types semapv:ManualMappingCuration MONDO:0013412 hypertrophic cardiomyopathy 9 skos:exactMatch OMIM:613765 cardiomyopathy, familial hypertrophic, 9 semapv:ManualMappingCuration MONDO:0013413 retinitis pigmentosa 45 skos:exactMatch OMIM:613767 retinitis pigmentosa 45 semapv:ManualMappingCuration MONDO:0013414 retinitis pigmentosa 44 skos:exactMatch OMIM:613769 retinitis pigmentosa 44 semapv:ManualMappingCuration MONDO:0013415 chromosome 17p13.1 deletion syndrome skos:exactMatch OMIM:613776 chromosome 17p13.1 deletion syndrome semapv:ManualMappingCuration MONDO:0013416 age related macular degeneration 8 skos:exactMatch OMIM:613778 macular degeneration, age-related, 8 semapv:ManualMappingCuration MONDO:0013417 complement component 3 deficiency skos:exactMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:ManualMappingCuration MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:exactMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:ManualMappingCuration MONDO:0013419 complement component C1s deficiency skos:exactMatch OMIM:613783 complement component c1s deficiency semapv:ManualMappingCuration MONDO:0013420 age related macular degeneration 12 skos:exactMatch OMIM:613784 macular degeneration, age-related, 12 semapv:ManualMappingCuration MONDO:0013421 type II complement component 8 deficiency skos:exactMatch OMIM:613789 complement component 8 deficiency, type 2 semapv:ManualMappingCuration MONDO:0013422 type I complement component 8 deficiency skos:exactMatch OMIM:613790 complement component 8 deficiency, type 1 semapv:ManualMappingCuration MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch OMIM:613791 masp2 deficiency semapv:ManualMappingCuration MONDO:0013424 3p- syndrome skos:exactMatch OMIM:613792 chromosome 3pter-p25 deletion syndrome semapv:ManualMappingCuration MONDO:0013425 retinitis pigmentosa 20 skos:exactMatch OMIM:613794 retinitis pigmentosa 20 semapv:ManualMappingCuration MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch OMIM:613795 loeys-dietz syndrome 3 semapv:ManualMappingCuration MONDO:0013427 immunodeficiency 31B skos:exactMatch OMIM:613796 immunodeficiency 31b semapv:ManualMappingCuration MONDO:0013428 Meier-Gorlin syndrome 2 skos:exactMatch OMIM:613800 meier-gorlin syndrome 2 semapv:ManualMappingCuration MONDO:0013429 retinitis pigmentosa 40 skos:exactMatch OMIM:613801 retinitis pigmentosa 40 semapv:ManualMappingCuration MONDO:0013430 Meier-Gorlin syndrome 3 skos:exactMatch OMIM:613803 meier-gorlin syndrome 3 semapv:ManualMappingCuration MONDO:0013431 Meier-Gorlin syndrome 4 skos:exactMatch OMIM:613804 meier-gorlin syndrome 4 semapv:ManualMappingCuration MONDO:0013432 Meier-Gorlin syndrome 5 skos:exactMatch OMIM:613805 meier-gorlin syndrome 5 semapv:ManualMappingCuration MONDO:0013433 primary sclerosing cholangitis skos:exactMatch OMIM:613806 cholangitis, primary sclerosing semapv:ManualMappingCuration MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:ManualMappingCuration MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:ManualMappingCuration MONDO:0013436 retinitis pigmentosa 39 skos:exactMatch OMIM:613809 retinitis pigmentosa 39 semapv:ManualMappingCuration MONDO:0013437 retinitis pigmentosa 43 skos:exactMatch OMIM:613810 retinitis pigmentosa 43 semapv:ManualMappingCuration MONDO:0013438 pontocerebellar hypoplasia type 2D skos:exactMatch OMIM:613811 pontocerebellar hypoplasia, type 2d semapv:ManualMappingCuration MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:ManualMappingCuration MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9 semapv:ManualMappingCuration MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:exactMatch OMIM:613819 short-rib thoracic dysplasia 4 with or without polydactyly semapv:ManualMappingCuration MONDO:0013442 nephronophthisis 12 skos:exactMatch OMIM:613820 nephronophthisis 12 semapv:ManualMappingCuration MONDO:0013443 Seckel syndrome 5 skos:exactMatch OMIM:613823 seckel syndrome 5 semapv:ManualMappingCuration MONDO:0013444 nephronophthisis 9 skos:exactMatch OMIM:613824 nephronophthisis 9 semapv:ManualMappingCuration MONDO:0013445 complement component 9 deficiency skos:exactMatch OMIM:613825 complement component 9 deficiency semapv:ManualMappingCuration MONDO:0013446 Leber congenital amaurosis 6 skos:exactMatch OMIM:613826 leber congenital amaurosis 6 semapv:ManualMappingCuration MONDO:0013447 retinitis pigmentosa 48 skos:exactMatch OMIM:613827 retinitis pigmentosa 48 semapv:ManualMappingCuration MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 semapv:ManualMappingCuration MONDO:0013449 Leber congenital amaurosis 7 skos:exactMatch OMIM:613829 leber congenital amaurosis 7 semapv:ManualMappingCuration MONDO:0013450 congenital stationary night blindness 1D skos:exactMatch OMIM:613830 night blindness, congenital stationary, type 1d semapv:ManualMappingCuration MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:exactMatch OMIM:613834 smooth muscle dysfunction syndrome semapv:ManualMappingCuration MONDO:0013453 Leber congenital amaurosis 8 skos:exactMatch OMIM:613835 leber congenital amaurosis 8 semapv:ManualMappingCuration MONDO:0013454 Leber congenital amaurosis 11 skos:exactMatch OMIM:613837 leber congenital amaurosis 11 semapv:ManualMappingCuration MONDO:0013455 hypertrophic cardiomyopathy 16 skos:exactMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:ManualMappingCuration MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:ManualMappingCuration MONDO:0013457 Leber congenital amaurosis 15 skos:exactMatch OMIM:613843 leber congenital amaurosis 15 semapv:ManualMappingCuration MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:ManualMappingCuration MONDO:0013459 osteogenesis imperfecta type 10 skos:exactMatch OMIM:613848 osteogenesis imperfecta, type 10 semapv:ManualMappingCuration MONDO:0013460 osteogenesis imperfecta type 12 skos:exactMatch OMIM:613849 osteogenesis imperfecta, type 12 semapv:ManualMappingCuration MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch OMIM:613850 inosine triphosphatase deficiency semapv:ManualMappingCuration MONDO:0013462 fucosyltransferase 6 deficiency skos:exactMatch OMIM:613852 fucosyltransferase 6 deficiency semapv:ManualMappingCuration MONDO:0013463 congenital heart defects, multiple types, 6 skos:exactMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:ManualMappingCuration MONDO:0013464 episodic ataxia type 5 skos:exactMatch OMIM:613855 episodic ataxia, type 5 semapv:ManualMappingCuration MONDO:0013465 achromatopsia 4 skos:exactMatch OMIM:613856 achromatopsia 4 semapv:ManualMappingCuration MONDO:0013466 orofacial cleft 13 skos:exactMatch OMIM:613857 orofacial cleft 13 semapv:ManualMappingCuration MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch OMIM:613860 ficolin 3 deficiency semapv:ManualMappingCuration MONDO:0013468 retinitis pigmentosa 59 skos:exactMatch OMIM:613861 retinitis pigmentosa 59 semapv:ManualMappingCuration MONDO:0013469 retinitis pigmentosa 38 skos:exactMatch OMIM:613862 retinitis pigmentosa 38 semapv:ManualMappingCuration MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch OMIM:613863 generalized epilepsy with febrile seizures plus, type 7 semapv:ManualMappingCuration MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:exactMatch OMIM:613865 deafness, autosomal recessive 61 semapv:ManualMappingCuration MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch OMIM:613869 myopathy, myofibrillar, 2b, infantile-onset semapv:ManualMappingCuration MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:exactMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:ManualMappingCuration MONDO:0013474 hypertrophic cardiomyopathy 17 skos:exactMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:ManualMappingCuration MONDO:0013475 hypertrophic cardiomyopathy 18 skos:exactMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:ManualMappingCuration MONDO:0013477 hypertrophic cardiomyopathy 20 skos:exactMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:ManualMappingCuration MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch OMIM:613877 lipodystrophy, familial partial, type 4 semapv:ManualMappingCuration MONDO:0013479 dilated cardiomyopathy 1HH skos:exactMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:ManualMappingCuration MONDO:0013480 renal hypomagnesemia 6 skos:exactMatch OMIM:613882 hypomagnesemia 6, renal semapv:ManualMappingCuration MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:ManualMappingCuration MONDO:0013482 Meckel syndrome, type 8 skos:exactMatch OMIM:613885 meckel syndrome, type 8 semapv:ManualMappingCuration MONDO:0013483 obesity, hyperphagia, and developmental delay skos:exactMatch OMIM:613886 obesity, hyperphagia, and developmental delay semapv:ManualMappingCuration MONDO:0013484 cataract 36 skos:exactMatch OMIM:613887 cataract 36 semapv:ManualMappingCuration MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch OMIM:613908 spinocerebellar ataxia 35 semapv:ManualMappingCuration MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch OMIM:613909 spinocerebellar ataxia 32 semapv:ManualMappingCuration MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch OMIM:613912 complement factor d deficiency semapv:ManualMappingCuration MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:exactMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:ManualMappingCuration MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:exactMatch OMIM:613916 deafness, autosomal recessive 89 semapv:ManualMappingCuration MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:exactMatch OMIM:613925 megalencephalic leukoencephalopathy with subcortical cysts 2a semapv:ManualMappingCuration MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:exactMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:ManualMappingCuration MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:exactMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:ManualMappingCuration MONDO:0013493 acetyl-coa carboxylase deficiency skos:exactMatch OMIM:613933 acetyl-coa carboxylase-alpha deficiency semapv:ManualMappingCuration MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:exactMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0013496 IgA nephropathy, susceptibility to, 2 skos:exactMatch OMIM:613944 iga nephropathy, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013497 Okt4 epitope deficiency skos:exactMatch OMIM:613949 okt4 epitope deficiency semapv:ManualMappingCuration MONDO:0013498 schizophrenia 15 skos:exactMatch OMIM:613950 schizophrenia 15 semapv:ManualMappingCuration MONDO:0013499 Fanconi anemia complementation group P skos:exactMatch OMIM:613951 fanconi anemia, complementation group p semapv:ManualMappingCuration MONDO:0013500 immunodeficiency 51 skos:exactMatch OMIM:613953 immunodeficiency 51 semapv:ManualMappingCuration MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:ManualMappingCuration MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch OMIM:613955 amyloidosis, primary localized cutaneous, 2 semapv:ManualMappingCuration MONDO:0013503 candidiasis, familial, 6 skos:exactMatch OMIM:613956 candidiasis, familial, 6 semapv:ManualMappingCuration MONDO:0013504 spermatogenic failure 8 skos:exactMatch OMIM:613957 spermatogenic failure 8 semapv:ManualMappingCuration MONDO:0013505 spermatogenic failure 9 skos:exactMatch OMIM:613958 spermatogenic failure 9 semapv:ManualMappingCuration MONDO:0013506 schizophrenia 16 skos:exactMatch OMIM:613959 schizophrenia 16 semapv:ManualMappingCuration MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 semapv:ManualMappingCuration MONDO:0013508 myopia 19, autosomal dominant skos:exactMatch OMIM:613969 myopia 19, autosomal dominant semapv:ManualMappingCuration MONDO:0013509 intellectual disability, autosomal dominant 6 skos:exactMatch OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures semapv:ManualMappingCuration MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch OMIM:613972 melanoma, cutaneous malignant, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013511 cyanosis, transient neonatal skos:exactMatch OMIM:613977 cyanosis, transient neonatal semapv:ManualMappingCuration MONDO:0013512 hemoglobin H disease skos:exactMatch OMIM:613978 hemoglobin h disease semapv:ManualMappingCuration MONDO:0013513 atrial fibrillation, familial, 9 skos:exactMatch OMIM:613980 atrial fibrillation, familial, 9 semapv:ManualMappingCuration MONDO:0013514 hypotrichosis 3 skos:exactMatch OMIM:613981 hypotrichosis 3 semapv:ManualMappingCuration MONDO:0013515 osteogenesis imperfecta type 6 skos:exactMatch OMIM:613982 osteogenesis imperfecta, type 6 semapv:ManualMappingCuration MONDO:0013516 retinitis pigmentosa 60 skos:exactMatch OMIM:613983 retinitis pigmentosa 60 semapv:ManualMappingCuration MONDO:0013517 beta-thalassemia HBB/LCRB skos:exactMatch OMIM:613985 beta-thalassemia semapv:ManualMappingCuration MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:exactMatch OMIM:613986 pituitary hormone deficiency, combined, 6 semapv:ManualMappingCuration MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch OMIM:613987 dyskeratosis congenita, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch OMIM:613988 dyskeratosis congenita, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch OMIM:613990 dyskeratosis congenita, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:ManualMappingCuration MONDO:0013525 primary ciliary dyskinesia 16 skos:exactMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:ManualMappingCuration MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:ManualMappingCuration MONDO:0013527 lissencephaly 4 skos:exactMatch OMIM:614019 lissencephaly 4 with microcephaly semapv:ManualMappingCuration MONDO:0013528 intellectual disability, autosomal recessive 14 skos:exactMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:ManualMappingCuration MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:exactMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:ManualMappingCuration MONDO:0013530 atrial fibrillation, familial, 10 skos:exactMatch OMIM:614022 atrial fibrillation, familial, 10 semapv:ManualMappingCuration MONDO:0013531 PSPH deficiency skos:exactMatch OMIM:614023 phosphoserine phosphatase deficiency semapv:ManualMappingCuration MONDO:0013532 protein Z deficiency skos:exactMatch OMIM:614024 protein z deficiency semapv:ManualMappingCuration MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch OMIM:614025 hepatic lipase deficiency semapv:ManualMappingCuration MONDO:0013534 apolipoprotein c-III deficiency skos:exactMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:ManualMappingCuration MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:exactMatch OMIM:614033 hydroxyacyl glutathione hydrolase deficiency semapv:ManualMappingCuration MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch OMIM:614034 heme oxygenase 1 deficiency semapv:ManualMappingCuration MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:exactMatch OMIM:614035 deafness, autosomal recessive 29 semapv:ManualMappingCuration MONDO:0013538 obsolete alpha-2-macroglobulin deficiency skos:exactMatch OMIM:614036 alpha-2-macroglobulin deficiency semapv:ManualMappingCuration MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch OMIM:614037 leukotriene c4 synthase deficiency semapv:ManualMappingCuration MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:ManualMappingCuration MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:ManualMappingCuration MONDO:0013542 Moyamoya disease 5 skos:exactMatch OMIM:614042 moyamoya disease 5 semapv:ManualMappingCuration MONDO:0013543 trypsinogen deficiency skos:exactMatch OMIM:614044 trypsinogen deficiency semapv:ManualMappingCuration MONDO:0013544 atrial fibrillation, familial, 11 skos:exactMatch OMIM:614049 atrial fibrillation, familial, 11 semapv:ManualMappingCuration MONDO:0013545 atrial fibrillation, familial, 12 skos:exactMatch OMIM:614050 atrial fibrillation, familial, 12 semapv:ManualMappingCuration MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:exactMatch OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 2 semapv:ManualMappingCuration MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:exactMatch OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 3 semapv:ManualMappingCuration MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:exactMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:ManualMappingCuration MONDO:0013549 N-acetylaspartate deficiency skos:exactMatch OMIM:614063 n-acetylaspartate deficiency semapv:ManualMappingCuration MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch OMIM:614065 myopathy, distal, 4 semapv:ManualMappingCuration MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:ManualMappingCuration MONDO:0013552 hereditary spastic paraplegia 52 skos:exactMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:ManualMappingCuration MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch OMIM:614069 immunodeficiency-centromeric instability-facial anomalies syndrome 2 semapv:ManualMappingCuration MONDO:0013554 psoriasis 13, susceptibility to skos:exactMatch OMIM:614070 psoriasis 13, susceptibility to semapv:ManualMappingCuration MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:exactMatch OMIM:614072 hermansky-pudlak syndrome 3 semapv:ManualMappingCuration MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:exactMatch OMIM:614073 hermansky-pudlak syndrome 4 semapv:ManualMappingCuration MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:exactMatch OMIM:614074 hermansky-pudlak syndrome 5 semapv:ManualMappingCuration MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:exactMatch OMIM:614075 hermansky-pudlak syndrome 6 semapv:ManualMappingCuration MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:exactMatch OMIM:614076 hermansky-pudlak syndrome 7 semapv:ManualMappingCuration MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:exactMatch OMIM:614077 hermansky-pudlak syndrome 8 semapv:ManualMappingCuration MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch OMIM:614078 chondrodysplasia with joint dislocations, gpapp type semapv:ManualMappingCuration MONDO:0013562 aspergillosis, susceptibility to skos:exactMatch OMIM:614079 aspergillosis, susceptibility to semapv:ManualMappingCuration MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:ManualMappingCuration MONDO:0013564 anhaptoglobinemia skos:exactMatch OMIM:614081 anhaptoglobinemia semapv:ManualMappingCuration MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch OMIM:614082 fanconi anemia, complementation group g semapv:ManualMappingCuration MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:ManualMappingCuration MONDO:0013567 atrial septal defect 3 skos:exactMatch OMIM:614089 atrial septal defect 3 semapv:ManualMappingCuration MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:exactMatch OMIM:614090 sick sinus syndrome 3, susceptibility to semapv:ManualMappingCuration MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly semapv:ManualMappingCuration MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:ManualMappingCuration MONDO:0013571 acatalasia skos:exactMatch OMIM:614097 acatalasemia semapv:ManualMappingCuration MONDO:0013572 Keppen-Lubinsky syndrome skos:exactMatch OMIM:614098 keppen-lubinsky syndrome semapv:ManualMappingCuration MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:ManualMappingCuration MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:ManualMappingCuration MONDO:0013575 plasma fibronectin deficiency skos:exactMatch OMIM:614101 plasma fibronectin deficiency semapv:ManualMappingCuration MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:ManualMappingCuration MONDO:0013577 Lipedema skos:exactMatch OMIM:614103 lipedema semapv:ManualMappingCuration MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch OMIM:614104 intellectual developmental disorder, autosomal dominant 7 semapv:ManualMappingCuration MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:ManualMappingCuration MONDO:0013581 intellectual disability, autosomal dominant 2 skos:exactMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:ManualMappingCuration MONDO:0013583 occipital pachygyria and polymicrogyria skos:exactMatch OMIM:614115 cortical malformations, occipital semapv:ManualMappingCuration MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch OMIM:614116 neuropathy, hereditary sensory, type 1e semapv:ManualMappingCuration MONDO:0013585 hydrolethalus syndrome 2 skos:exactMatch OMIM:614120 hydrolethalus syndrome 2 semapv:ManualMappingCuration MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:ManualMappingCuration MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch OMIM:614128 lactate dehydrogenase B deficiency semapv:ManualMappingCuration MONDO:0013588 Perrault syndrome 3 skos:exactMatch OMIM:614129 perrault syndrome 3 semapv:ManualMappingCuration MONDO:0013589 focal segmental glomerulosclerosis 6 skos:exactMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:ManualMappingCuration MONDO:0013590 Stickler syndrome, type 4 skos:exactMatch OMIM:614134 stickler syndrome, type 4 semapv:ManualMappingCuration MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:exactMatch OMIM:614135 epiphyseal dysplasia, multiple, 6 semapv:ManualMappingCuration MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:exactMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:ManualMappingCuration MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:exactMatch OMIM:614152 deafness, autosomal dominant 64 semapv:ManualMappingCuration MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch OMIM:614153 spinocerebellar ataxia 36 semapv:ManualMappingCuration MONDO:0013595 hyperbiliverdinemia skos:exactMatch OMIM:614156 hyperbiliverdinemia semapv:ManualMappingCuration MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:ManualMappingCuration MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:ManualMappingCuration MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch OMIM:614160 muscle hypertrophy semapv:ManualMappingCuration MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch OMIM:614162 immunodeficiency 31c semapv:ManualMappingCuration MONDO:0013601 gluthathione peroxidase deficiency skos:exactMatch OMIM:614164 glutathione peroxidase deficiency semapv:ManualMappingCuration MONDO:0013602 paragangliomas 5 skos:exactMatch OMIM:614165 pheochromocytoma/paraganglioma syndrome 5 semapv:ManualMappingCuration MONDO:0013603 myopia 20, autosomal dominant skos:exactMatch OMIM:614166 myopia 20, autosomal dominant semapv:ManualMappingCuration MONDO:0013604 myopia 21, autosomal dominant skos:exactMatch OMIM:614167 myopia 21, autosomal dominant semapv:ManualMappingCuration MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch OMIM:614170 brittle cornea syndrome 2 semapv:ManualMappingCuration MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:exactMatch OMIM:614171 hermansky-pudlak syndrome 9 semapv:ManualMappingCuration MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch OMIM:614172 immunodeficiency 21 semapv:ManualMappingCuration MONDO:0013608 Joubert syndrome 13 skos:exactMatch OMIM:614173 joubert syndrome 13 semapv:ManualMappingCuration MONDO:0013609 Meckel syndrome, type 10 skos:exactMatch OMIM:614175 meckel syndrome, type 10 semapv:ManualMappingCuration MONDO:0013610 retinitis pigmentosa 61 skos:exactMatch OMIM:614180 retinitis pigmentosa 61 semapv:ManualMappingCuration MONDO:0013611 retinitis pigmentosa 62 skos:exactMatch OMIM:614181 retinitis pigmentosa 62 semapv:ManualMappingCuration MONDO:0013612 geleophysic dysplasia 2 skos:exactMatch OMIM:614185 geleophysic dysplasia 2 semapv:ManualMappingCuration MONDO:0013613 Leber congenital amaurosis 16 skos:exactMatch OMIM:614186 leber congenital amaurosis 16 semapv:ManualMappingCuration MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:ManualMappingCuration MONDO:0013615 craniosynostosis and dental anomalies skos:exactMatch OMIM:614188 craniosynostosis and dental anomalies semapv:ManualMappingCuration MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:ManualMappingCuration MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:ManualMappingCuration MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome skos:exactMatch OMIM:614195 craniofacial anomalies and anterior segment dysgenesis syndrome semapv:ManualMappingCuration MONDO:0013619 nephrotic syndrome, type 6 skos:exactMatch OMIM:614196 nephrotic syndrome, type 6 semapv:ManualMappingCuration MONDO:0013620 congenital myasthenic syndrome 16 skos:exactMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:ManualMappingCuration MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch OMIM:614199 nephrotic syndrome, type 5, with or without ocular abnormalities semapv:ManualMappingCuration MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:ManualMappingCuration MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:ManualMappingCuration MONDO:0013624 Rafiq syndrome skos:exactMatch OMIM:614202 rafiq syndrome semapv:ManualMappingCuration MONDO:0013625 Parkinson disease 17 skos:exactMatch OMIM:614203 parkinson disease 17 semapv:ManualMappingCuration MONDO:0013626 psoriasis 14, pustular skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:ManualMappingCuration MONDO:0013627 3M syndrome 3 skos:exactMatch OMIM:614205 three m syndrome 3 semapv:ManualMappingCuration MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:ManualMappingCuration MONDO:0013629 intellectual disability, autosomal recessive 16 skos:exactMatch OMIM:614208 intellectual developmental disorder, autosomal recessive 16 semapv:ManualMappingCuration MONDO:0013630 Meckel syndrome, type 9 skos:exactMatch OMIM:614209 meckel syndrome, type 9 semapv:ManualMappingCuration MONDO:0013631 lung cancer susceptibility 5 skos:exactMatch OMIM:614210 lung cancer susceptibility 5 semapv:ManualMappingCuration MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:exactMatch OMIM:614211 deafness, autosomal dominant 33 semapv:ManualMappingCuration MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:exactMatch OMIM:614213 neuropathy, hereditary sensory, type 2c semapv:ManualMappingCuration MONDO:0013635 Adams-Oliver syndrome 2 skos:exactMatch OMIM:614219 adams-oliver syndrome 2 semapv:ManualMappingCuration MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:ManualMappingCuration MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:ManualMappingCuration MONDO:0013638 Warburg micro syndrome 3 skos:exactMatch OMIM:614222 warburg micro syndrome 3 semapv:ManualMappingCuration MONDO:0013639 narcolepsy 6, susceptibility to skos:exactMatch OMIM:614223 narcolepsy 6, susceptibility to semapv:ManualMappingCuration MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:ManualMappingCuration MONDO:0013641 Warburg micro syndrome 2 skos:exactMatch OMIM:614225 warburg micro syndrome 2 semapv:ManualMappingCuration MONDO:0013642 holoprosencephaly 11 skos:exactMatch OMIM:614226 holoprosencephaly 11 semapv:ManualMappingCuration MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:exactMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:ManualMappingCuration MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch OMIM:614228 charcot-marie-tooth disease, axonal, type 2o semapv:ManualMappingCuration MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:ManualMappingCuration MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch OMIM:614230 chromosome 8q21.11 deletion syndrome semapv:ManualMappingCuration MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:ManualMappingCuration MONDO:0013649 hypotrichosis 9 skos:exactMatch OMIM:614237 hypotrichosis 9 semapv:ManualMappingCuration MONDO:0013650 hypotrichosis 10 skos:exactMatch OMIM:614238 hypotrichosis 10 semapv:ManualMappingCuration MONDO:0013651 intellectual disability, autosomal recessive 18 skos:exactMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:ManualMappingCuration MONDO:0013652 narcolepsy 7 skos:exactMatch OMIM:614250 narcolepsy 7 semapv:ManualMappingCuration MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to semapv:ManualMappingCuration MONDO:0013654 aneurysm, intracranial berry, 11 skos:exactMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:ManualMappingCuration MONDO:0013655 intellectual disability, autosomal dominant 8 skos:exactMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:ManualMappingCuration MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch OMIM:614255 nescav syndrome semapv:ManualMappingCuration MONDO:0013657 intellectual disability, autosomal dominant 10 skos:exactMatch OMIM:614256 intellectual developmental disorder, autosomal dominant 10 semapv:ManualMappingCuration MONDO:0013658 intellectual disability, autosomal dominant 11 skos:exactMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:ManualMappingCuration MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch OMIM:614261 microcephaly-capillary malformation syndrome semapv:ManualMappingCuration MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy skos:exactMatch OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy semapv:ManualMappingCuration MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch OMIM:614265 combined malonic and methylmalonic aciduria semapv:ManualMappingCuration MONDO:0013662 Barrett esophagus skos:exactMatch OMIM:614266 barrett esophagus semapv:ManualMappingCuration MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:exactMatch OMIM:614278 platelet-activating factor acetylhydrolase deficiency semapv:ManualMappingCuration MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch OMIM:614279 46,xy sex reversal 8 semapv:ManualMappingCuration MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0013666 Stickler syndrome, type 5 skos:exactMatch OMIM:614284 stickler syndrome, type 5 semapv:ManualMappingCuration MONDO:0013668 tetrasomy 18p skos:exactMatch OMIM:614290 tetrasomy 18p semapv:ManualMappingCuration MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration semapv:ManualMappingCuration MONDO:0013671 hydatidiform mole, recurrent, 2 skos:exactMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:ManualMappingCuration MONDO:0013672 chromosome 15q25 deletion syndrome skos:exactMatch OMIM:614294 chromosome 15q25 deletion syndrome semapv:ManualMappingCuration MONDO:0013673 Wolfram-like syndrome skos:exactMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch OMIM:614298 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:ManualMappingCuration MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:ManualMappingCuration MONDO:0013678 EDICT syndrome skos:exactMatch OMIM:614303 EDICT syndrome semapv:ManualMappingCuration MONDO:0013679 sclerosteosis 2 skos:exactMatch OMIM:614305 sclerosteosis 2 semapv:ManualMappingCuration MONDO:0013680 cognitive impairment with or without cerebellar ataxia skos:exactMatch OMIM:614306 cognitive impairment with or without cerebellar ataxia semapv:ManualMappingCuration MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch OMIM:614307 alpha-methylacyl-coa racemase deficiency semapv:ManualMappingCuration MONDO:0013682 vesicoureteral reflux 4 skos:exactMatch OMIM:614317 vesicoureteral reflux 4 semapv:ManualMappingCuration MONDO:0013683 vesicoureteral reflux 5 skos:exactMatch OMIM:614318 vesicoureteral reflux 5 semapv:ManualMappingCuration MONDO:0013684 vesicoureteral reflux 6 skos:exactMatch OMIM:614319 vesicoureteral reflux 6 semapv:ManualMappingCuration MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:exactMatch OMIM:614320 pancreatic cancer, susceptibility to, 4 semapv:ManualMappingCuration MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch OMIM:614321 myopathy, distal, tateyama type semapv:ManualMappingCuration MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:ManualMappingCuration MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:ManualMappingCuration MONDO:0013689 ovarian dysgenesis 3 skos:exactMatch OMIM:614324 ovarian dysgenesis 3 semapv:ManualMappingCuration MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch OMIM:614325 pitt-hopkins-like syndrome 2 semapv:ManualMappingCuration MONDO:0013691 Feingold syndrome type 2 skos:exactMatch OMIM:614326 feingold syndrome 2 semapv:ManualMappingCuration MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch OMIM:614327 tumor predisposition syndrome 1 semapv:ManualMappingCuration MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 semapv:ManualMappingCuration MONDO:0013694 intellectual disability, autosomal recessive 31 skos:exactMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:ManualMappingCuration MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch OMIM:614331 colorectal cancer, hereditary nonpolyposis, type 6 semapv:ManualMappingCuration MONDO:0013696 chromosome 2p16.3 deletion syndrome skos:exactMatch OMIM:614332 chromosome 2p16.3 deletion syndrome semapv:ManualMappingCuration MONDO:0013697 intellectual disability, autosomal recessive 29 skos:exactMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:ManualMappingCuration MONDO:0013698 arthrogryposis, distal, type 1B skos:exactMatch OMIM:614335 arthrogryposis, distal, type 1b semapv:ManualMappingCuration MONDO:0013699 Lynch syndrome 4 skos:exactMatch OMIM:614337 lynch syndrome 4 semapv:ManualMappingCuration MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:ManualMappingCuration MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:ManualMappingCuration MONDO:0013702 intellectual disability, autosomal recessive 27 skos:exactMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:ManualMappingCuration MONDO:0013703 intellectual disability, autosomal recessive 33 skos:exactMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:ManualMappingCuration MONDO:0013704 intellectual disability, autosomal recessive 30 skos:exactMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:ManualMappingCuration MONDO:0013705 intellectual disability, autosomal recessive 19 skos:exactMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:ManualMappingCuration MONDO:0013706 intellectual disability, autosomal recessive 23 skos:exactMatch OMIM:614344 intellectual developmental disorder, autosomal recessive 23 semapv:ManualMappingCuration MONDO:0013707 intellectual disability, autosomal recessive 24 skos:exactMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:ManualMappingCuration MONDO:0013708 intellectual disability, autosomal recessive 25 skos:exactMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:ManualMappingCuration MONDO:0013709 intellectual disability, autosomal recessive 28 skos:exactMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:ManualMappingCuration MONDO:0013710 Lynch syndrome 5 skos:exactMatch OMIM:614350 lynch syndrome 5 semapv:ManualMappingCuration MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:ManualMappingCuration MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:ManualMappingCuration MONDO:0013713 dengue virus, susceptibility to skos:exactMatch OMIM:614371 dengue virus, susceptibility to semapv:ManualMappingCuration MONDO:0013714 mannose-binding lectin deficiency skos:exactMatch OMIM:614372 mannose-binding lectin deficiency semapv:ManualMappingCuration MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:exactMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:ManualMappingCuration MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:exactMatch OMIM:614375 aortic aneurysm, familial abdominal, 4 semapv:ManualMappingCuration MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:exactMatch OMIM:614376 short-rib thoracic dysplasia 5 with or without polydactyly semapv:ManualMappingCuration MONDO:0013718 nephronophthisis 13 skos:exactMatch OMIM:614377 nephronophthisis 13 semapv:ManualMappingCuration MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch OMIM:614378 cranioectodermal dysplasia 4 semapv:ManualMappingCuration MONDO:0013720 complement component 4b deficiency skos:exactMatch OMIM:614379 complement component 4b deficiency semapv:ManualMappingCuration MONDO:0013721 complement component 4a deficiency skos:exactMatch OMIM:614380 complement component 4a deficiency semapv:ManualMappingCuration MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0013723 bacteremia, susceptibility to, 1 skos:exactMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0013724 bacteremia, susceptibility to, 2 skos:exactMatch OMIM:614383 bacteremia, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch OMIM:614385 colorectal cancer, hereditary nonpolyposis, type 7 semapv:ManualMappingCuration MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:exactMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:ManualMappingCuration MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:exactMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013731 MEGF10-related myopathy skos:exactMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:ManualMappingCuration MONDO:0013732 glucocorticoid therapy, response to skos:exactMatch OMIM:614400 glucocorticoid therapy, response to semapv:ManualMappingCuration MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:ManualMappingCuration MONDO:0013734 microphthalmia, syndromic 11 skos:exactMatch OMIM:614402 microphthalmia, syndromic 11 semapv:ManualMappingCuration MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:ManualMappingCuration MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:ManualMappingCuration MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:exactMatch OMIM:614414 deafness, autosomal recessive 96 semapv:ManualMappingCuration MONDO:0013739 chilblain lupus 2 skos:exactMatch OMIM:614415 chilblain lupus 2 semapv:ManualMappingCuration MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:ManualMappingCuration MONDO:0013741 familial temporal lobe epilepsy 5 skos:exactMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:ManualMappingCuration MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch OMIM:614420 systemic lupus erythematosus 16 semapv:ManualMappingCuration MONDO:0013744 cataract 37 skos:exactMatch OMIM:614422 cataract 37 semapv:ManualMappingCuration MONDO:0013745 Joubert syndrome 14 skos:exactMatch OMIM:614424 joubert syndrome 14 semapv:ManualMappingCuration MONDO:0013746 ventricular septal defect 1 skos:exactMatch OMIM:614429 ventricular septal defect 1 semapv:ManualMappingCuration MONDO:0013747 atrioventricular septal defect 4 skos:exactMatch OMIM:614430 atrioventricular septal defect 4 semapv:ManualMappingCuration MONDO:0013748 ventricular septal defect 2 skos:exactMatch OMIM:614431 ventricular septal defect 2 semapv:ManualMappingCuration MONDO:0013749 ventricular septal defect 3 skos:exactMatch OMIM:614432 ventricular septal defect 3 semapv:ManualMappingCuration MONDO:0013750 atrial septal defect 8 skos:exactMatch OMIM:614433 atrial septal defect 8 semapv:ManualMappingCuration MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch OMIM:614434 cutis laxa, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0013752 hypoplastic left heart syndrome 2 skos:exactMatch OMIM:614435 hypoplastic left heart syndrome 2 semapv:ManualMappingCuration MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch OMIM:614436 charcot-marie-tooth disease, axonal, type 2p semapv:ManualMappingCuration MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:exactMatch OMIM:614437 cutis laxa, autosomal recessive, type 1b semapv:ManualMappingCuration MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch OMIM:614438 cutis laxa, autosomal recessive, type 3b semapv:ManualMappingCuration MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch OMIM:614441 phoar2-enteropathy syndrome semapv:ManualMappingCuration MONDO:0013757 congenital nongoitrous hypothyroidism 6 skos:exactMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:ManualMappingCuration MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:ManualMappingCuration MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:ManualMappingCuration MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:ManualMappingCuration MONDO:0013762 lipoic acid synthetase deficiency skos:exactMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:ManualMappingCuration MONDO:0013763 Joubert syndrome 15 skos:exactMatch OMIM:614464 joubert syndrome 15 semapv:ManualMappingCuration MONDO:0013764 Joubert syndrome 16 skos:exactMatch OMIM:614465 joubert syndrome 16 semapv:ManualMappingCuration MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:exactMatch OMIM:614466 coronary heart disease, susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch OMIM:614470 ras-associated autoimmune leukoproliferative disorder semapv:ManualMappingCuration MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:exactMatch OMIM:614473 arterial calcification, generalized, of infancy, 2 semapv:ManualMappingCuration MONDO:0013769 atrioventricular septal defect 5 skos:exactMatch OMIM:614474 atrioventricular septal defect 5 semapv:ManualMappingCuration MONDO:0013770 atrial septal defect 9 skos:exactMatch OMIM:614475 atrial septal defect 9 semapv:ManualMappingCuration MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:ManualMappingCuration MONDO:0013772 Huppke-Brendel syndrome skos:exactMatch OMIM:614482 huppke-brendel syndrome semapv:ManualMappingCuration MONDO:0013773 porencephaly 2 skos:exactMatch OMIM:614483 brain small vessel disease 2 semapv:ManualMappingCuration MONDO:0013774 trigonocephaly 2 skos:exactMatch OMIM:614485 trigonocephaly 2 semapv:ManualMappingCuration MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:ManualMappingCuration MONDO:0013776 spastic ataxia 5 skos:exactMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:ManualMappingCuration MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch OMIM:614491 pseudohypoaldosteronism, type 2b semapv:ManualMappingCuration MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch OMIM:614492 pseudohypoaldosteronism, type 2c semapv:ManualMappingCuration MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:ManualMappingCuration MONDO:0013780 retinitis pigmentosa 63 skos:exactMatch OMIM:614494 retinitis pigmentosa 63 semapv:ManualMappingCuration MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch OMIM:614495 pseudohypoaldosteronism, type 2d semapv:ManualMappingCuration MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch OMIM:614496 pseudohypoaldosteronism, type 2e semapv:ManualMappingCuration MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:exactMatch OMIM:614497 microphthalmia/coloboma 7 semapv:ManualMappingCuration MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:ManualMappingCuration MONDO:0013785 intellectual disability, autosomal recessive 34 skos:exactMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:ManualMappingCuration MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch OMIM:614500 cone-rod dystrophy 16 semapv:ManualMappingCuration MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism skos:exactMatch OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures semapv:ManualMappingCuration MONDO:0013788 Usher syndrome type 3B skos:exactMatch OMIM:614504 usher syndrome, type 3b semapv:ManualMappingCuration MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch OMIM:614507 congenital disorder of glycosylation, type ir semapv:ManualMappingCuration MONDO:0013790 mirror movements 2 skos:exactMatch OMIM:614508 mirror movements 2 semapv:ManualMappingCuration MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:exactMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:ManualMappingCuration MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency skos:exactMatch OMIM:614520 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency semapv:ManualMappingCuration MONDO:0013794 thrombocythemia 3 skos:exactMatch OMIM:614521 thrombocythemia 3 semapv:ManualMappingCuration MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch OMIM:614524 fibrochondrogenesis 2 semapv:ManualMappingCuration MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch OMIM:614526 chromosome 17q12 duplication syndrome semapv:ManualMappingCuration MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch OMIM:614527 chromosome 17q12 deletion syndrome semapv:ManualMappingCuration MONDO:0013798 chromosome 16q22 deletion syndrome skos:exactMatch OMIM:614541 chromosome 16q22 deletion syndrome semapv:ManualMappingCuration MONDO:0013799 obsolete efavirenz, poor metabolism of skos:exactMatch OMIM:614546 efavirenz, poor metabolism of semapv:ManualMappingCuration MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch OMIM:614557 ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:ManualMappingCuration MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch OMIM:614558 developmental and epileptic encephalopathy 13 semapv:ManualMappingCuration MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch OMIM:614559 infantile cerebellar-retinal degeneration semapv:ManualMappingCuration MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch OMIM:614561 leukoencephalopathy, brain calcifications, and cysts semapv:ManualMappingCuration MONDO:0013805 intellectual disability, autosomal dominant 13 skos:exactMatch OMIM:614563 cortical dysplasia, complex, with other brain malformations 13 semapv:ManualMappingCuration MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:exactMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:ManualMappingCuration MONDO:0013807 congenital stationary night blindness 1E skos:exactMatch OMIM:614565 night blindness, congenital stationary, type 1e semapv:ManualMappingCuration MONDO:0013808 Maffucci syndrome skos:exactMatch OMIM:614569 multiple enchondromatosis, maffucci type semapv:ManualMappingCuration MONDO:0013810 COG6-congenital disorder of glycosylation skos:exactMatch OMIM:614576 congenital disorder of glycosylation, type iil semapv:ManualMappingCuration MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:ManualMappingCuration MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch OMIM:614583 baraitser-winter syndrome 2 semapv:ManualMappingCuration MONDO:0013813 dystonia 21 skos:exactMatch OMIM:614588 dystonia 21 semapv:ManualMappingCuration MONDO:0013814 podoconiosis, susceptibility to skos:exactMatch OMIM:614590 podoconiosis, susceptibility to semapv:ManualMappingCuration MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch OMIM:614592 bent bone dysplasia syndrome 1 semapv:ManualMappingCuration MONDO:0013817 preeclampsia/eclampsia 5 skos:exactMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:ManualMappingCuration MONDO:0013818 trichohepatoenteric syndrome 2 skos:exactMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:ManualMappingCuration MONDO:0013819 intellectual disability, autosomal dominant 14 skos:exactMatch OMIM:614607 coffin-siris syndrome 2 semapv:ManualMappingCuration MONDO:0013820 intellectual disability, autosomal dominant 15 skos:exactMatch OMIM:614608 coffin-siris syndrome 3 semapv:ManualMappingCuration MONDO:0013821 intellectual disability, autosomal dominant 16 skos:exactMatch OMIM:614609 coffin-siris syndrome 4 semapv:ManualMappingCuration MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:exactMatch OMIM:614613 acrodysostosis 2 with or without hormone resistance semapv:ManualMappingCuration MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:exactMatch OMIM:614614 deafness, autosomal dominant 4b semapv:ManualMappingCuration MONDO:0013824 Joubert syndrome 17 skos:exactMatch OMIM:614615 joubert syndrome 17 semapv:ManualMappingCuration MONDO:0013825 congenital diarrhea 6 skos:exactMatch OMIM:614616 diarrhea 6 semapv:ManualMappingCuration MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:exactMatch OMIM:614617 deafness, autosomal recessive 86 semapv:ManualMappingCuration MONDO:0013827 hyperekplexia 3 skos:exactMatch OMIM:614618 hyperekplexia 3 semapv:ManualMappingCuration MONDO:0013828 hyperekplexia 2 skos:exactMatch OMIM:614619 hyperekplexia 2 semapv:ManualMappingCuration MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch OMIM:614621 uv-sensitive syndrome 2 semapv:ManualMappingCuration MONDO:0013830 keratoconus 5 skos:exactMatch OMIM:614622 keratoconus 5 semapv:ManualMappingCuration MONDO:0013831 keratoconus 6 skos:exactMatch OMIM:614623 keratoconus 6 semapv:ManualMappingCuration MONDO:0013832 keratoconus 8 skos:exactMatch OMIM:614628 keratoconus 8 semapv:ManualMappingCuration MONDO:0013833 keratoconus 7 skos:exactMatch OMIM:614629 keratoconus 7 semapv:ManualMappingCuration MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch OMIM:614640 uv-sensitive syndrome 3 semapv:ManualMappingCuration MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 skos:exactMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 semapv:ManualMappingCuration MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:ManualMappingCuration MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:ManualMappingCuration MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:exactMatch OMIM:614652 coenzyme Q10 deficiency, primary, 3 semapv:ManualMappingCuration MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, type 6 semapv:ManualMappingCuration MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:ManualMappingCuration MONDO:0013841 stuttering, familial persistent, 3 skos:exactMatch OMIM:614655 stuttering, familial persistent, 3 semapv:ManualMappingCuration MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch OMIM:614662 cortisone reductase deficiency 2 semapv:ManualMappingCuration MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch OMIM:614665 meconium ileus semapv:ManualMappingCuration MONDO:0013844 stuttering, familial persistent, 4 skos:exactMatch OMIM:614668 stuttering, familial persistent, 4 semapv:ManualMappingCuration MONDO:0013845 auriculocondylar syndrome 2 skos:exactMatch OMIM:614669 auriculocondylar syndrome 2a semapv:ManualMappingCuration MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:exactMatch OMIM:614670 peripartum cardiomyopathy, susceptibility to semapv:ManualMappingCuration MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:ManualMappingCuration MONDO:0013848 dilated cardiomyopathy 2B skos:exactMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:ManualMappingCuration MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:exactMatch OMIM:614673 microcephaly 8, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch OMIM:614675 bone marrow failure syndrome 1 semapv:ManualMappingCuration MONDO:0013852 hypertrophic cardiomyopathy 21 skos:exactMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:ManualMappingCuration MONDO:0013853 pontocerebellar hypoplasia type 1B skos:exactMatch OMIM:614678 pontocerebellar hypoplasia, type 1b semapv:ManualMappingCuration MONDO:0013854 primary ciliary dyskinesia 17 skos:exactMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:ManualMappingCuration MONDO:0013855 influenza, severe, susceptibility to skos:exactMatch OMIM:614680 influenza, severe, susceptibility to semapv:ManualMappingCuration MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes skos:exactMatch OMIM:614684 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, impaired intellectual development, and recurrent inflammatory episodes semapv:ManualMappingCuration MONDO:0013857 alar cleft, isolated skos:exactMatch OMIM:614687 alar cleft, isolated semapv:ManualMappingCuration MONDO:0013858 pontine tegmental cap dysplasia skos:exactMatch OMIM:614688 pontine tegmental cap dysplasia semapv:ManualMappingCuration MONDO:0013859 cataract 38 skos:exactMatch OMIM:614691 cataract 38 semapv:ManualMappingCuration MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:ManualMappingCuration MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch OMIM:614699 immunodeficiency, common variable, 7 semapv:ManualMappingCuration MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:ManualMappingCuration MONDO:0013864 Cornelia de Lange syndrome 4 skos:exactMatch OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects semapv:ManualMappingCuration MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:ManualMappingCuration MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:ManualMappingCuration MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:ManualMappingCuration MONDO:0013868 porokeratosis 7, multiple types skos:exactMatch OMIM:614714 porokeratosis 7, multiple types semapv:ManualMappingCuration MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch OMIM:614727 congenital disorder of glycosylation, type iik semapv:ManualMappingCuration MONDO:0013871 Seckel syndrome 6 skos:exactMatch OMIM:614728 seckel syndrome 6 semapv:ManualMappingCuration MONDO:0013872 prostate cancer, hereditary, 2 skos:exactMatch OMIM:614731 prostate cancer, hereditary, 2 semapv:ManualMappingCuration MONDO:0013873 IMAGe syndrome skos:exactMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:ManualMappingCuration MONDO:0013874 glucocorticoid deficiency 4 skos:exactMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:ManualMappingCuration MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:ManualMappingCuration MONDO:0013876 basal cell carcinoma, susceptibility to, 7 skos:exactMatch OMIM:614740 basal cell carcinoma, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch OMIM:614741 mitochondrial pyruvate carrier deficiency semapv:ManualMappingCuration MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:exactMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 semapv:ManualMappingCuration MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:exactMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 semapv:ManualMappingCuration MONDO:0013880 facial paresis, hereditary congenital, 3 skos:exactMatch OMIM:614744 facial paresis, hereditary congenital, 3 semapv:ManualMappingCuration MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:ManualMappingCuration MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:ManualMappingCuration MONDO:0013883 congenital myasthenic syndrome 13 skos:exactMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:ManualMappingCuration MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:exactMatch OMIM:614751 neuronopathy, distal hereditary motor, autosomal dominant 12 semapv:ManualMappingCuration MONDO:0013885 Malan overgrowth syndrome skos:exactMatch OMIM:614753 malan syndrome semapv:ManualMappingCuration MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities semapv:ManualMappingCuration MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:exactMatch OMIM:614779 heterotaxy, visceral, 6, autosomal semapv:ManualMappingCuration MONDO:0013888 tremor, hereditary essential, 4 skos:exactMatch OMIM:614782 tremor, hereditary essential, 4 semapv:ManualMappingCuration MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:exactMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:ManualMappingCuration MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch OMIM:614807 myopathy, centronuclear, 4 semapv:ManualMappingCuration MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:exactMatch OMIM:614808 amyotrophic lateral sclerosis 18 semapv:ManualMappingCuration MONDO:0013892 C3 glomerulonephritis skos:exactMatch OMIM:614809 c3 glomerulopathy 3 semapv:ManualMappingCuration MONDO:0013893 multiple sclerosis, susceptibility to, 5 skos:exactMatch OMIM:614810 multiple sclerosis, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:ManualMappingCuration MONDO:0013895 Adams-Oliver syndrome 3 skos:exactMatch OMIM:614814 adams-oliver syndrome 3 semapv:ManualMappingCuration MONDO:0013896 Joubert syndrome 18 skos:exactMatch OMIM:614815 joubert syndrome 18 semapv:ManualMappingCuration MONDO:0013897 Loeys-Dietz syndrome 4 skos:exactMatch OMIM:614816 loeys-dietz syndrome 4 semapv:ManualMappingCuration MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:ManualMappingCuration MONDO:0013899 Weill-Marchesani syndrome 3 skos:exactMatch OMIM:614819 weill-marchesani syndrome 3 semapv:ManualMappingCuration MONDO:0013900 alternating hemiplegia of childhood 2 skos:exactMatch OMIM:614820 alternating hemiplegia of childhood 2 semapv:ManualMappingCuration MONDO:0013901 spermatogenic failure 10 skos:exactMatch OMIM:614822 spermatogenic failure 10 semapv:ManualMappingCuration MONDO:0013902 aortic valve disease 2 skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:ManualMappingCuration MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:exactMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:ManualMappingCuration MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 semapv:ManualMappingCuration MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:ManualMappingCuration MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:exactMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:ManualMappingCuration MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0013909 human herpesvirus 8, susceptibility to skos:exactMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:ManualMappingCuration MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch OMIM:614837 hypogonadotropic hypogonadism 8 with or without anosmia semapv:ManualMappingCuration MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch OMIM:614838 hypogonadotropic hypogonadism 9 with or without anosmia semapv:ManualMappingCuration MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch OMIM:614839 hypogonadotropic hypogonadism 10 with or without anosmia semapv:ManualMappingCuration MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch OMIM:614840 hypogonadotropic hypogonadism 11 with or without anosmia semapv:ManualMappingCuration MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:ManualMappingCuration MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch OMIM:614842 hypogonadotropic hypogonadism 13 with or without anosmia semapv:ManualMappingCuration MONDO:0013916 nephronophthisis 14 skos:exactMatch OMIM:614844 nephronophthisis 14 semapv:ManualMappingCuration MONDO:0013917 nephronophthisis 15 skos:exactMatch OMIM:614845 nephronophthisis 15 semapv:ManualMappingCuration MONDO:0013918 distal tetrasomy 15q skos:exactMatch OMIM:614846 tetrasomy 15q26 semapv:ManualMappingCuration MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 skos:exactMatch OMIM:614847 epilepsy, idiopathic generalized, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:exactMatch OMIM:614849 immunodeficiency 132a semapv:ManualMappingCuration MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:exactMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:ManualMappingCuration MONDO:0013922 Seckel syndrome 7 skos:exactMatch OMIM:614851 seckel syndrome 7 semapv:ManualMappingCuration MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:exactMatch OMIM:614852 microcephaly 9, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0013924 osteogenesis imperfecta type 13 skos:exactMatch OMIM:614856 osteogenesis imperfecta, type 13 semapv:ManualMappingCuration MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch OMIM:614857 methylmalonic aciduria and homocystinuria, cblj type semapv:ManualMappingCuration MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch OMIM:614858 hypogonadotropic hypogonadism 14 with or without anosmia semapv:ManualMappingCuration MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:ManualMappingCuration MONDO:0013928 dystonia 23 skos:exactMatch OMIM:614860 dystonia 23 semapv:ManualMappingCuration MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:exactMatch OMIM:614861 deafness, autosomal recessive 98 semapv:ManualMappingCuration MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:ManualMappingCuration MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch OMIM:614863 peroxisome biogenesis disorder 4b semapv:ManualMappingCuration MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:exactMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:ManualMappingCuration MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch OMIM:614867 peroxisome biogenesis disorder 5b semapv:ManualMappingCuration MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:exactMatch OMIM:614868 immunodeficiency 110 with lymphoproliferation semapv:ManualMappingCuration MONDO:0013935 Usher syndrome type 1J skos:exactMatch OMIM:614869 usher syndrome, type 1j semapv:ManualMappingCuration MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:ManualMappingCuration MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch OMIM:614871 peroxisome biogenesis disorder 6b semapv:ManualMappingCuration MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:exactMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:ManualMappingCuration MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch OMIM:614873 peroxisome biogenesis disorder 7b semapv:ManualMappingCuration MONDO:0013940 primary ciliary dyskinesia 18 skos:exactMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:ManualMappingCuration MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:ManualMappingCuration MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:exactMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:ManualMappingCuration MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch OMIM:614877 peroxisome biogenesis disorder 8b semapv:ManualMappingCuration MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:ManualMappingCuration MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:ManualMappingCuration MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch OMIM:614880 hypogonadotropic hypogonadism 15 with or without anosmia semapv:ManualMappingCuration MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch OMIM:614881 neuronopathy, distal hereditary motor, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:exactMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:ManualMappingCuration MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:exactMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:ManualMappingCuration MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch OMIM:614885 peroxisome biogenesis disorder 11b semapv:ManualMappingCuration MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:exactMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:ManualMappingCuration MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:exactMatch OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) semapv:ManualMappingCuration MONDO:0013953 immunodeficiency 28 skos:exactMatch OMIM:614889 immunodeficiency 28 semapv:ManualMappingCuration MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch OMIM:614890 immunodeficiency 29 semapv:ManualMappingCuration MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch OMIM:614891 immunodeficiency 30 semapv:ManualMappingCuration MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch OMIM:614892 immunodeficiency 31a semapv:ManualMappingCuration MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch OMIM:614893 immunodeficiency 32a semapv:ManualMappingCuration MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch OMIM:614895 charcot-marie-tooth disease, demyelinating, type 4f semapv:ManualMappingCuration MONDO:0013960 sinoatrial node dysfunction and deafness skos:exactMatch OMIM:614896 sinoatrial node dysfunction and deafness semapv:ManualMappingCuration MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia semapv:ManualMappingCuration MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:ManualMappingCuration MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:exactMatch OMIM:614899 deafness, autosomal recessive 93 semapv:ManualMappingCuration MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch OMIM:614900 diamond-blackfan anemia 11 semapv:ManualMappingCuration MONDO:0013965 lethal congenital contracture syndrome 4 skos:exactMatch OMIM:614915 lethal congenital contracture syndrome 4 semapv:ManualMappingCuration MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:exactMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:ManualMappingCuration MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch OMIM:614920 peroxisome biogenesis disorder 14b semapv:ManualMappingCuration MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch OMIM:614921 congenital disorder of glycosylation, type it semapv:ManualMappingCuration MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:ManualMappingCuration MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:ManualMappingCuration MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:ManualMappingCuration MONDO:0013972 Perrault syndrome 2 skos:exactMatch OMIM:614926 perrault syndrome 2 semapv:ManualMappingCuration MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:exactMatch OMIM:614927 ectodermal dysplasia 5, hair/nail type semapv:ManualMappingCuration MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:exactMatch OMIM:614928 ectodermal dysplasia 6, hair/nail type semapv:ManualMappingCuration MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:exactMatch OMIM:614929 ectodermal dysplasia 7, hair/nail type semapv:ManualMappingCuration MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:exactMatch OMIM:614931 ectodermal dysplasia 9, hair/nail type semapv:ManualMappingCuration MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:ManualMappingCuration MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:exactMatch OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration semapv:ManualMappingCuration MONDO:0013979 primary ciliary dyskinesia 19 skos:exactMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:ManualMappingCuration MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:exactMatch OMIM:614936 palmoplantar keratoderma, punctate type 1b semapv:ManualMappingCuration MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:ManualMappingCuration MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:ManualMappingCuration MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:exactMatch OMIM:614944 deafness, autosomal recessive 84b semapv:ManualMappingCuration MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:exactMatch OMIM:614945 deafness, autosomal recessive 18b semapv:ManualMappingCuration MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:ManualMappingCuration MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:ManualMappingCuration MONDO:0013988 congenital heart defects, multiple types, 3 skos:exactMatch OMIM:614954 congenital heart defects, multiple types, 3 semapv:ManualMappingCuration MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch OMIM:614959 developmental and epileptic encephalopathy 14 semapv:ManualMappingCuration MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch OMIM:614961 pontocerebellar hypoplasia, type 8 semapv:ManualMappingCuration MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch OMIM:614962 leptin deficiency or dysfunction semapv:ManualMappingCuration MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch OMIM:614963 leptin receptor deficiency semapv:ManualMappingCuration MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch OMIM:614969 pontocerebellar hypoplasia, type 7 semapv:ManualMappingCuration MONDO:0013994 Joubert syndrome 20 skos:exactMatch OMIM:614970 joubert syndrome 20 semapv:ManualMappingCuration MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:exactMatch OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 semapv:ManualMappingCuration MONDO:0013996 focal facial dermal dysplasia type II skos:exactMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type semapv:ManualMappingCuration MONDO:0013997 focal facial dermal dysplasia type IV skos:exactMatch OMIM:614974 focal facial dermal dysplasia 4 semapv:ManualMappingCuration MONDO:0013998 MEGF8-related Carpenter syndrome skos:exactMatch OMIM:614976 carpenter syndrome 2 semapv:ManualMappingCuration MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:ManualMappingCuration MONDO:0014000 congenital heart defects, multiple types, 2 skos:exactMatch OMIM:614980 congenital heart defects, multiple types, 2 semapv:ManualMappingCuration MONDO:0014001 Usher syndrome type 1K skos:exactMatch OMIM:614990 usher syndrome, type 1k semapv:ManualMappingCuration MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:exactMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:ManualMappingCuration MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:exactMatch OMIM:615006 developmental and epileptic encephalopathy 15 semapv:ManualMappingCuration MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:exactMatch OMIM:615007 basal ganglia calcification, idiopathic, 4 semapv:ManualMappingCuration MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch OMIM:615008 nephrotic syndrome, type 7 semapv:ManualMappingCuration MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch OMIM:615009 schuurs-hoeijmakers syndrome semapv:ManualMappingCuration MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch OMIM:615010 aicardi-goutieres syndrome 6 semapv:ManualMappingCuration MONDO:0014008 phosphohydroxylysinuria skos:exactMatch OMIM:615011 phosphohydroxylysinuria semapv:ManualMappingCuration MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:exactMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:exactMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:ManualMappingCuration MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:exactMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:ManualMappingCuration MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch OMIM:615025 charcot-marie-tooth disease, axonal, type 2q semapv:ManualMappingCuration MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch OMIM:615028 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive semapv:ManualMappingCuration MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch OMIM:615030 spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum semapv:ManualMappingCuration MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch OMIM:615031 neuropathy, hereditary sensory and autonomic, type ix, with developmental delay semapv:ManualMappingCuration MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:exactMatch OMIM:615032 intellectual developmental disorder with autism and macrocephaly semapv:ManualMappingCuration MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:ManualMappingCuration MONDO:0014019 dystonia 24 skos:exactMatch OMIM:615034 dystonia 24 semapv:ManualMappingCuration MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:ManualMappingCuration MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:ManualMappingCuration MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 semapv:ManualMappingCuration MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch OMIM:615042 congenital disorder of glycosylation, type iu semapv:ManualMappingCuration MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:ManualMappingCuration MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch OMIM:615048 spinal muscular atrophy, jokela type semapv:ManualMappingCuration MONDO:0014026 congenital stationary night blindness 1F skos:exactMatch OMIM:615058 night blindness, congenital stationary, type 1f semapv:ManualMappingCuration MONDO:0014027 hypotrichosis 11 skos:exactMatch OMIM:615059 hypotrichosis 11 semapv:ManualMappingCuration MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch OMIM:615065 arthrogryposis, distal, type 5d semapv:ManualMappingCuration MONDO:0014029 osteogenesis imperfecta type 14 skos:exactMatch OMIM:615066 osteogenesis imperfecta, type 14 semapv:ManualMappingCuration MONDO:0014030 primary ciliary dyskinesia 20 skos:exactMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:ManualMappingCuration MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch OMIM:615071 alazami syndrome semapv:ManualMappingCuration MONDO:0014032 brachydactyly type A1C skos:exactMatch OMIM:615072 brachydactyly, type a1, c semapv:ManualMappingCuration MONDO:0014033 dystonia 25 skos:exactMatch OMIM:615073 dystonia 25 semapv:ManualMappingCuration MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch OMIM:615074 GAND syndrome semapv:ManualMappingCuration MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch OMIM:615075 neurodevelopmental disorder with spastic diplegia and visual defects semapv:ManualMappingCuration MONDO:0014036 Alzheimer disease 17 skos:exactMatch OMIM:615080 alzheimer disease 17 semapv:ManualMappingCuration MONDO:0014037 spermatogenic failure 11 skos:exactMatch OMIM:615081 spermatogenic failure 11 semapv:ManualMappingCuration MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:exactMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch OMIM:615084 mitochondrial DNA depletion syndrome 11 semapv:ManualMappingCuration MONDO:0014040 autosomal recessive osteopetrosis 8 skos:exactMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0014041 autism, susceptibility to, 19 skos:exactMatch OMIM:615091 autism, susceptibility to, 19 semapv:ManualMappingCuration MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch OMIM:615092 left ventricular noncompaction 7 semapv:ManualMappingCuration MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch OMIM:615102 tyshchenko syndrome semapv:ManualMappingCuration MONDO:0014046 Cowden syndrome 4 skos:exactMatch OMIM:615107 cowden syndrome 4 semapv:ManualMappingCuration MONDO:0014047 Cowden syndrome 5 skos:exactMatch OMIM:615108 cowden syndrome 5 semapv:ManualMappingCuration MONDO:0014048 Cowden syndrome 6 skos:exactMatch OMIM:615109 cowden syndrome 6 semapv:ManualMappingCuration MONDO:0014049 urofacial syndrome 2 skos:exactMatch OMIM:615112 urofacial syndrome 2 semapv:ManualMappingCuration MONDO:0014050 isolated microphthalmia 8 skos:exactMatch OMIM:615113 microphthalmia, isolated 8 semapv:ManualMappingCuration MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch OMIM:615119 mitochondrial complex 4 deficiency, nuclear type 6 semapv:ManualMappingCuration MONDO:0014052 congenital myasthenic syndrome 8 skos:exactMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:ManualMappingCuration MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:ManualMappingCuration MONDO:0014054 lymphoproliferative syndrome 2 skos:exactMatch OMIM:615122 lymphoproliferative syndrome 2 semapv:ManualMappingCuration MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:exactMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:ManualMappingCuration MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch OMIM:615134 melanoma, cutaneous malignant, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0014057 maple syrup urine disease, mild variant skos:exactMatch OMIM:615135 maple syrup urine disease, mild variant semapv:ManualMappingCuration MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:ManualMappingCuration MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:exactMatch OMIM:615145 microphthalmia/coloboma 9 semapv:ManualMappingCuration MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:exactMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:ManualMappingCuration MONDO:0014061 Steel syndrome skos:exactMatch OMIM:615155 steel syndrome semapv:ManualMappingCuration MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:ManualMappingCuration MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch OMIM:615157 mitochondrial complex 3 deficiency, nuclear type 2 semapv:ManualMappingCuration MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch OMIM:615158 mitochondrial complex 3 deficiency, nuclear type 3 semapv:ManualMappingCuration MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch OMIM:615159 mitochondrial complex 3 deficiency, nuclear type 4 semapv:ManualMappingCuration MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch OMIM:615160 mitochondrial complex 3 deficiency, nuclear type 5 semapv:ManualMappingCuration MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:ManualMappingCuration MONDO:0014068 cone-rod dystrophy 17 skos:exactMatch OMIM:615163 cone-rod dystrophy 17 semapv:ManualMappingCuration MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch OMIM:615170 wahab syndrome semapv:ManualMappingCuration MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch OMIM:615179 albinism, oculocutaneous, type 7 semapv:ManualMappingCuration MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 semapv:ManualMappingCuration MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:ManualMappingCuration MONDO:0014073 dilated cardiomyopathy 1II skos:exactMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:ManualMappingCuration MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:ManualMappingCuration MONDO:0014075 cataract 39 multiple types skos:exactMatch OMIM:615188 cataract 39, multiple types semapv:ManualMappingCuration MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch OMIM:615191 lissencephaly 5 semapv:ManualMappingCuration MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:ManualMappingCuration MONDO:0014079 restless legs syndrome, susceptibility to, 8 skos:exactMatch OMIM:615197 restless legs syndrome, susceptibility to, 8 semapv:ManualMappingCuration MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch OMIM:615198 osteosclerotic metaphyseal dysplasia semapv:ManualMappingCuration MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch OMIM:615206 immunodeficiency 11a semapv:ManualMappingCuration MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:exactMatch OMIM:615207 immunodeficiency 56 semapv:ManualMappingCuration MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:exactMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:ManualMappingCuration MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch OMIM:615217 ataxia-oculomotor apraxia 3 semapv:ManualMappingCuration MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:exactMatch OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:ManualMappingCuration MONDO:0014086 osteogenesis imperfecta type 15 skos:exactMatch OMIM:615220 osteogenesis imperfecta, type 15 semapv:ManualMappingCuration MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch OMIM:615222 smith-mccort dysplasia 2 semapv:ManualMappingCuration MONDO:0014088 advanced sleep phase syndrome 2 skos:exactMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:ManualMappingCuration MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch OMIM:615225 palmoplantar carcinoma, multiple self-healing semapv:ManualMappingCuration MONDO:0014090 polydactyly, postaxial, type A6 skos:exactMatch OMIM:615226 polydactyly, postaxial, type a6 semapv:ManualMappingCuration MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B skos:exactMatch OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b semapv:ManualMappingCuration MONDO:0014092 schizophrenia 18 skos:exactMatch OMIM:615232 schizophrenia 18 semapv:ManualMappingCuration MONDO:0014093 retinitis pigmentosa 66 skos:exactMatch OMIM:615233 retinitis pigmentosa 66 semapv:ManualMappingCuration MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:ManualMappingCuration MONDO:0014095 dilated cardiomyopathy 1JJ skos:exactMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:ManualMappingCuration MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:exactMatch OMIM:615236 woods syndrome semapv:ManualMappingCuration MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch OMIM:615238 lipodystrophy, familial partial, type 5 semapv:ManualMappingCuration MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch OMIM:615244 nephrotic syndrome, type 8 semapv:ManualMappingCuration MONDO:0014100 dilated cardiomyopathy 1KK skos:exactMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:ManualMappingCuration MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 semapv:ManualMappingCuration MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch OMIM:615266 hypogonadotropic hypogonadism 17 with or without anosmia semapv:ManualMappingCuration MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch OMIM:615267 hypogonadotropic hypogonadism 18 with or without anosmia semapv:ManualMappingCuration MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:ManualMappingCuration MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch OMIM:615269 hypogonadotropic hypogonadism 19 with or without anosmia semapv:ManualMappingCuration MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch OMIM:615270 hypogonadotropic hypogonadism 20 with or without anosmia semapv:ManualMappingCuration MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch OMIM:615271 hypogonadotropic hypogonadism 21 with or without anosmia semapv:ManualMappingCuration MONDO:0014108 Fanconi anemia complementation group Q skos:exactMatch OMIM:615272 fanconi anemia, complementation group q semapv:ManualMappingCuration MONDO:0014110 cataract 15 multiple types skos:exactMatch OMIM:615274 cataract 15, multiple types semapv:ManualMappingCuration MONDO:0014111 cataract 19 multiple types skos:exactMatch OMIM:615277 cataract 19, multiple types semapv:ManualMappingCuration MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:exactMatch OMIM:615278 cardiofaciocutaneous syndrome 2 semapv:ManualMappingCuration MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:exactMatch OMIM:615279 cardiofaciocutaneous syndrome 3 semapv:ManualMappingCuration MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:exactMatch OMIM:615280 cardiofaciocutaneous syndrome 4 semapv:ManualMappingCuration MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:ManualMappingCuration MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:exactMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:ManualMappingCuration MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch OMIM:615284 charcot-marie-tooth disease, demyelinating, type 4b3 semapv:ManualMappingCuration MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:ManualMappingCuration MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:ManualMappingCuration MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:exactMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 semapv:ManualMappingCuration MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:ManualMappingCuration MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch OMIM:615293 myofibromatosis, infantile, 2 semapv:ManualMappingCuration MONDO:0014123 primary ciliary dyskinesia 21 skos:exactMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:ManualMappingCuration MONDO:0014124 Adams-Oliver syndrome 4 skos:exactMatch OMIM:615297 adams-oliver syndrome 4 semapv:ManualMappingCuration MONDO:0014125 symphalangism, proximal, 1B skos:exactMatch OMIM:615298 symphalangism, proximal, 1b semapv:ManualMappingCuration MONDO:0014126 Perrault syndrome 4 skos:exactMatch OMIM:615300 perrault syndrome 4 semapv:ManualMappingCuration MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch OMIM:615312 albinism, oculocutaneous, type 5 semapv:ManualMappingCuration MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch OMIM:615314 craniosynostosis 3 semapv:ManualMappingCuration MONDO:0014130 Dowling-Degos disease 2 skos:exactMatch OMIM:615327 dowling-degos disease 2 semapv:ManualMappingCuration MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch OMIM:615328 shaheen syndrome semapv:ManualMappingCuration MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch OMIM:615330 multiple mitochondrial dysfunctions syndrome 3 semapv:ManualMappingCuration MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:exactMatch OMIM:615338 developmental and epileptic encephalopathy 16 semapv:ManualMappingCuration MONDO:0014134 pulmonary hypertension, primary, 2 skos:exactMatch OMIM:615342 pulmonary hypertension, primary, 2 semapv:ManualMappingCuration MONDO:0014135 pulmonary hypertension, primary, 3 skos:exactMatch OMIM:615343 pulmonary hypertension, primary, 3 semapv:ManualMappingCuration MONDO:0014136 pulmonary hypertension, primary, 4 skos:exactMatch OMIM:615344 pulmonary hypertension, primary, 4 semapv:ManualMappingCuration MONDO:0014137 precocious puberty, central, 2 skos:exactMatch OMIM:615346 precocious puberty, central, 2 semapv:ManualMappingCuration MONDO:0014138 nemaline myopathy 8 skos:exactMatch OMIM:615348 nemaline myopathy 8 semapv:ManualMappingCuration MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:ManualMappingCuration MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:exactMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 semapv:ManualMappingCuration MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:exactMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14 semapv:ManualMappingCuration MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 semapv:ManualMappingCuration MONDO:0014143 Noonan syndrome 8 skos:exactMatch OMIM:615355 noonan syndrome 8 semapv:ManualMappingCuration MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch OMIM:615356 muscular dystrophy, limb-girdle, autosomal recessive 18 semapv:ManualMappingCuration MONDO:0014145 Leber congenital amaurosis 17 skos:exactMatch OMIM:615360 leber congenital amaurosis 17 semapv:ManualMappingCuration MONDO:0014146 autosomal dominant hypocalcemia 2 skos:exactMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:exactMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:ManualMappingCuration MONDO:0014148 estrogen resistance syndrome skos:exactMatch OMIM:615363 estrogen resistance semapv:ManualMappingCuration MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:ManualMappingCuration MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:ManualMappingCuration MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to skos:exactMatch OMIM:615371 pulmonary hypertension, neonatal, susceptibility to semapv:ManualMappingCuration MONDO:0014152 left ventricular noncompaction 8 skos:exactMatch OMIM:615373 left ventricular noncompaction 8 semapv:ManualMappingCuration MONDO:0014153 cone-rod dystrophy 18 skos:exactMatch OMIM:615374 cone-rod dystrophy 18 semapv:ManualMappingCuration MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:ManualMappingCuration MONDO:0014155 atrial fibrillation, familial, 13 skos:exactMatch OMIM:615377 atrial fibrillation, familial, 13 semapv:ManualMappingCuration MONDO:0014156 atrial fibrillation, familial, 14 skos:exactMatch OMIM:615378 atrial fibrillation, familial, 14 semapv:ManualMappingCuration MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:ManualMappingCuration MONDO:0014158 nephronophthisis 16 skos:exactMatch OMIM:615382 nephronophthisis 16 semapv:ManualMappingCuration MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:ManualMappingCuration MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch OMIM:615387 immunodeficiency 7 semapv:ManualMappingCuration MONDO:0014161 vesicoureteral reflux 7 skos:exactMatch OMIM:615390 vesicoureteral reflux 7 semapv:ManualMappingCuration MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:ManualMappingCuration MONDO:0014163 left ventricular noncompaction 10 skos:exactMatch OMIM:615396 left ventricular noncompaction 10 semapv:ManualMappingCuration MONDO:0014164 Meckel syndrome, type 11 skos:exactMatch OMIM:615397 meckel syndrome, type 11 semapv:ManualMappingCuration MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:ManualMappingCuration MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 semapv:ManualMappingCuration MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:exactMatch OMIM:615400 epilepsy, early-onset, 5, with or without developmental delay semapv:ManualMappingCuration MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch OMIM:615401 immunodeficiency 8 with lymphoproliferation semapv:ManualMappingCuration MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:exactMatch OMIM:615402 dyschromatosis universalis hereditaria 3 semapv:ManualMappingCuration MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:exactMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:ManualMappingCuration MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:exactMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:ManualMappingCuration MONDO:0014172 spermatogenic failure 12 skos:exactMatch OMIM:615413 spermatogenic failure 12 semapv:ManualMappingCuration MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:exactMatch OMIM:615414 microcephaly 11, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:exactMatch OMIM:615415 renal-hepatic-pancreatic dysplasia 2 semapv:ManualMappingCuration MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive semapv:ManualMappingCuration MONDO:0014177 myopia 22, autosomal dominant skos:exactMatch OMIM:615420 myopia 22, autosomal dominant semapv:ManualMappingCuration MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:exactMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:ManualMappingCuration MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:exactMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:ManualMappingCuration MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch OMIM:615425 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency semapv:ManualMappingCuration MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:exactMatch OMIM:615426 amyotrophic lateral sclerosis 20 semapv:ManualMappingCuration MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:exactMatch OMIM:615429 deafness, autosomal recessive 88 semapv:ManualMappingCuration MONDO:0014183 myopia 23, autosomal recessive skos:exactMatch OMIM:615431 myopia 23, autosomal recessive semapv:ManualMappingCuration MONDO:0014184 specific language impairment 5 skos:exactMatch OMIM:615432 specific language impairment 5 semapv:ManualMappingCuration MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch OMIM:615433 chromosome 3q13.31 deletion syndrome semapv:ManualMappingCuration MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:exactMatch OMIM:615434 retinitis pigmentosa 82 with or without situs inversus semapv:ManualMappingCuration MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:exactMatch OMIM:615436 aortic aneurysm, familial thoracic 8 semapv:ManualMappingCuration MONDO:0014189 age related macular degeneration 13 skos:exactMatch OMIM:615439 macular degeneration, age-related, 13 semapv:ManualMappingCuration MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:ManualMappingCuration MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:exactMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:ManualMappingCuration MONDO:0014192 primary ciliary dyskinesia 22 skos:exactMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:ManualMappingCuration MONDO:0014193 primary ciliary dyskinesia 23 skos:exactMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:ManualMappingCuration MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch OMIM:615453 mitochondrial complex 3 deficiency, nuclear type 6 semapv:ManualMappingCuration MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:ManualMappingCuration MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch OMIM:615465 hartsfield syndrome semapv:ManualMappingCuration MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch OMIM:615468 immunodeficiency 12 semapv:ManualMappingCuration MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:ManualMappingCuration MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:exactMatch OMIM:615473 developmental and epileptic encephalopathy 17 semapv:ManualMappingCuration MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch OMIM:615474 primary aldosteronism, seizures, and neurologic abnormalities semapv:ManualMappingCuration MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:exactMatch OMIM:615476 developmental and epileptic encephalopathy 18 semapv:ManualMappingCuration MONDO:0014202 primary ciliary dyskinesia 24 skos:exactMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:ManualMappingCuration MONDO:0014203 primary ciliary dyskinesia 25 skos:exactMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:ManualMappingCuration MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:exactMatch OMIM:615483 basal ganglia calcification, idiopathic, 5 semapv:ManualMappingCuration MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch OMIM:615485 bainbridge-ropers syndrome semapv:ManualMappingCuration MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch OMIM:615486 interstitial lung and liver disease semapv:ManualMappingCuration MONDO:0014207 age related macular degeneration 14 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:ManualMappingCuration MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch OMIM:615490 charcot-marie-tooth disease, axonal, type 2r semapv:ManualMappingCuration MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:ManualMappingCuration MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:exactMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:ManualMappingCuration MONDO:0014211 primary ciliary dyskinesia 26 skos:exactMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:ManualMappingCuration MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch OMIM:615501 molybdenum cofactor deficiency, type c semapv:ManualMappingCuration MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:exactMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:ManualMappingCuration MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch OMIM:615503 short-rib thoracic dysplasia 8 with or without polydactyly semapv:ManualMappingCuration MONDO:0014215 primary ciliary dyskinesia 27 skos:exactMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:ManualMappingCuration MONDO:0014216 primary ciliary dyskinesia 28 skos:exactMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:ManualMappingCuration MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch OMIM:615506 telangiectasia, hereditary hemorrhagic, type 5 semapv:ManualMappingCuration MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:ManualMappingCuration MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:ManualMappingCuration MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch OMIM:615512 triosephosphate isomerase deficiency semapv:ManualMappingCuration MONDO:0014222 immunodeficiency 14 skos:exactMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:ManualMappingCuration MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:exactMatch OMIM:615515 amyotrophic lateral sclerosis 19 semapv:ManualMappingCuration MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:ManualMappingCuration MONDO:0014225 hemochromatosis type 5 skos:exactMatch OMIM:615517 hemochromatosis, type 5 semapv:ManualMappingCuration MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch OMIM:615518 immunodeficiency 13 semapv:ManualMappingCuration MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch OMIM:615522 cole disease semapv:ManualMappingCuration MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:exactMatch OMIM:615523 corneal dystrophy, fuchs endothelial, 8 semapv:ManualMappingCuration MONDO:0014229 microphthalmia, syndromic 12 skos:exactMatch OMIM:615524 microphthalmia, syndromic 12 semapv:ManualMappingCuration MONDO:0014230 candidiasis, familial, 8 skos:exactMatch OMIM:615527 candidiasis, familial, 8 semapv:ManualMappingCuration MONDO:0014231 juvenile onset Parkinson disease 19A skos:exactMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:ManualMappingCuration MONDO:0014232 craniosynostosis 5, susceptibility to skos:exactMatch OMIM:615529 craniosynostosis 5, susceptibility to semapv:ManualMappingCuration MONDO:0014233 early-onset Parkinson disease 20 skos:exactMatch OMIM:615530 parkinson disease 20, early-onset semapv:ManualMappingCuration MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:ManualMappingCuration MONDO:0014235 chromosome 22q13 duplication syndrome skos:exactMatch OMIM:615538 chromosome 22q13 duplication syndrome semapv:ManualMappingCuration MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:exactMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:ManualMappingCuration MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:exactMatch OMIM:615540 deafness, autosomal recessive 76 semapv:ManualMappingCuration MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:ManualMappingCuration MONDO:0014239 testicular anomalies with or without congenital heart disease skos:exactMatch OMIM:615542 testicular anomalies with or without congenital heart disease semapv:ManualMappingCuration MONDO:0014240 periventricular nodular heterotopia 6 skos:exactMatch OMIM:615544 periventricular nodular heterotopia 6 semapv:ManualMappingCuration MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0014242 van Maldergem syndrome 2 skos:exactMatch OMIM:615546 van maldergem syndrome 2 semapv:ManualMappingCuration MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch OMIM:615547 schaaf-yang syndrome semapv:ManualMappingCuration MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, type 7 semapv:ManualMappingCuration MONDO:0014245 Diamond-Blackfan anemia 12 skos:exactMatch OMIM:615550 diamond-blackfan anemia 12 semapv:ManualMappingCuration MONDO:0014246 episodic pain syndrome, familial, 2 skos:exactMatch OMIM:615551 episodic pain syndrome, familial, 2 semapv:ManualMappingCuration MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:ManualMappingCuration MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:exactMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:ManualMappingCuration MONDO:0014249 multiple fibroadenoma of the breast skos:exactMatch OMIM:615554 multiple fibroadenomas of the breast semapv:ManualMappingCuration MONDO:0014250 familial hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:ManualMappingCuration MONDO:0014251 melioidosis, susceptibility to skos:exactMatch OMIM:615557 melioidosis, susceptibility to semapv:ManualMappingCuration MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:ManualMappingCuration MONDO:0014254 otofaciocervical syndrome 2 skos:exactMatch OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency semapv:ManualMappingCuration MONDO:0014255 complement factor b deficiency skos:exactMatch OMIM:615561 complement factor B deficiency semapv:ManualMappingCuration MONDO:0014256 retinitis pigmentosa 67 skos:exactMatch OMIM:615565 retinitis pigmentosa 67 semapv:ManualMappingCuration MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch OMIM:615573 nephrotic syndrome, type 9 semapv:ManualMappingCuration MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch OMIM:615574 asparagine synthetase deficiency semapv:ManualMappingCuration MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:exactMatch OMIM:615575 neuronopathy, distal hereditary motor, autosomal dominant 6 semapv:ManualMappingCuration MONDO:0014260 immunodeficiency, common variable, 10 skos:exactMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:ManualMappingCuration MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:ManualMappingCuration MONDO:0014262 Rienhoff syndrome skos:exactMatch OMIM:615582 loeys-dietz syndrome 5 semapv:ManualMappingCuration MONDO:0014263 8q24.3 microdeletion syndrome skos:exactMatch OMIM:615583 verheij syndrome semapv:ManualMappingCuration MONDO:0014264 otosclerosis 10 skos:exactMatch OMIM:615589 otosclerosis 10 semapv:ManualMappingCuration MONDO:0014265 Alzheimer disease 18 skos:exactMatch OMIM:615590 alzheimer disease 18 semapv:ManualMappingCuration MONDO:0014266 age related macular degeneration 15 skos:exactMatch OMIM:615591 macular degeneration, age-related, 15 semapv:ManualMappingCuration MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch OMIM:615592 immunodeficiency 15b semapv:ManualMappingCuration MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch OMIM:615593 immunodeficiency 16 semapv:ManualMappingCuration MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:exactMatch OMIM:615595 combined oxidative phosphorylation deficiency 19 semapv:ManualMappingCuration MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch OMIM:615596 congenital disorder of glycosylation, type iw, autosomal recessive semapv:ManualMappingCuration MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch OMIM:615597 congenital disorder of glycosylation, type ix semapv:ManualMappingCuration MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch OMIM:615598 palmoplantar keratoderma, nagashima type semapv:ManualMappingCuration MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity semapv:ManualMappingCuration MONDO:0014274 L-ferritin deficiency skos:exactMatch OMIM:615604 l-ferritin deficiency semapv:ManualMappingCuration MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch OMIM:615605 fanconi renotubular syndrome 3 semapv:ManualMappingCuration MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch OMIM:615607 immunodeficiency 17 semapv:ManualMappingCuration MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch OMIM:615612 developmental dysplasia of the hip 2 semapv:ManualMappingCuration MONDO:0014278 immunodeficiency 18 skos:exactMatch OMIM:615615 immunodeficiency 18 semapv:ManualMappingCuration MONDO:0014280 immunodeficiency 19 skos:exactMatch OMIM:615617 immunodeficiency 19, severe combined semapv:ManualMappingCuration MONDO:0014281 cholangiocarcinoma, susceptibility to skos:exactMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:ManualMappingCuration MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch OMIM:615625 spastic paraplegia 72a, autosomal dominant semapv:ManualMappingCuration MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:exactMatch OMIM:615629 deafness, autosomal dominant 56 semapv:ManualMappingCuration MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch OMIM:615630 short-rib thoracic dysplasia 10 with or without polydactyly semapv:ManualMappingCuration MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:exactMatch OMIM:615631 anemia, congenital dyserythropoietic, type ib semapv:ManualMappingCuration MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:exactMatch OMIM:615632 neuropathy, hereditary sensory, type 1f semapv:ManualMappingCuration MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch OMIM:615633 short-rib thoracic dysplasia 11 with or without polydactyly semapv:ManualMappingCuration MONDO:0014288 Joubert syndrome 21 skos:exactMatch OMIM:615636 joubert syndrome 21 semapv:ManualMappingCuration MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:ManualMappingCuration MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch OMIM:615643 neurodegeneration with brain iron accumulation 6 semapv:ManualMappingCuration MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:exactMatch OMIM:615649 deafness, autosomal dominant 54 semapv:ManualMappingCuration MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch OMIM:615651 leukoencephalopathy with ataxia semapv:ManualMappingCuration MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:exactMatch OMIM:615654 deafness, autosomal dominant 58 semapv:ManualMappingCuration MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch OMIM:615656 chromosome 15q11.2 deletion syndrome semapv:ManualMappingCuration MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch OMIM:615658 spastic paraplegia 57, autosomal recessive semapv:ManualMappingCuration MONDO:0014296 Warburg micro syndrome 4 skos:exactMatch OMIM:615663 warburg micro syndrome 4 semapv:ManualMappingCuration MONDO:0014297 Joubert syndrome 22 skos:exactMatch OMIM:615665 joubert syndrome 22 semapv:ManualMappingCuration MONDO:0014298 chromosome 5q12 deletion syndrome skos:exactMatch OMIM:615668 chromosome 5q12 deletion syndrome semapv:ManualMappingCuration MONDO:0014299 LZTR1-related schwannomatosis skos:exactMatch OMIM:615670 schwannomatosis 2 semapv:ManualMappingCuration MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch OMIM:615673 myopathy with extrapyramidal signs semapv:ManualMappingCuration MONDO:0014301 dowling-degos disease 3 skos:exactMatch OMIM:615674 dowling-degos disease 3 semapv:ManualMappingCuration MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch OMIM:615681 spastic paraplegia 62, autosomal recessive semapv:ManualMappingCuration MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:ManualMappingCuration MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:ManualMappingCuration MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:ManualMappingCuration MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch OMIM:615688 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome semapv:ManualMappingCuration MONDO:0014307 Dowling-Degos disease 4 skos:exactMatch OMIM:615696 dowling-degos disease 4 semapv:ManualMappingCuration MONDO:0014308 familial temporal lobe epilepsy 6 skos:exactMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:ManualMappingCuration MONDO:0014309 obesity due to CEP19 deficiency skos:exactMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:ManualMappingCuration MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:ManualMappingCuration MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:ManualMappingCuration MONDO:0014312 auriculocondylar syndrome 3 skos:exactMatch OMIM:615706 auriculocondylar syndrome 3 semapv:ManualMappingCuration MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch OMIM:615707 immunodeficiency 20 semapv:ManualMappingCuration MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:ManualMappingCuration MONDO:0014316 Alzheimer disease 19 skos:exactMatch OMIM:615711 alzheimer disease 19 semapv:ManualMappingCuration MONDO:0014317 pancytopenia-developmental delay syndrome skos:exactMatch OMIM:615715 bone marrow failure syndrome 2 semapv:ManualMappingCuration MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:ManualMappingCuration MONDO:0014319 renal hypodysplasia/aplasia 2 skos:exactMatch OMIM:615721 renal hypodysplasia/aplasia 2 semapv:ManualMappingCuration MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch OMIM:615722 bosch-boonstra-schaaf optic atrophy syndrome semapv:ManualMappingCuration MONDO:0014321 premature ovarian failure 8 skos:exactMatch OMIM:615723 premature ovarian failure 8 semapv:ManualMappingCuration MONDO:0014322 premature ovarian failure 9 skos:exactMatch OMIM:615724 premature ovarian failure 9 semapv:ManualMappingCuration MONDO:0014323 retinitis pigmentosa 68 skos:exactMatch OMIM:615725 retinitis pigmentosa 68 semapv:ManualMappingCuration MONDO:0014324 pachyonychia congenita 3 skos:exactMatch OMIM:615726 pachyonychia congenita 3 semapv:ManualMappingCuration MONDO:0014325 pachyonychia congenita 4 skos:exactMatch OMIM:615728 pachyonychia congenita 4 semapv:ManualMappingCuration MONDO:0014326 nemaline myopathy 9 skos:exactMatch OMIM:615731 nemaline myopathy 9 semapv:ManualMappingCuration MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch OMIM:615735 palmoplantar keratoderma, nonepidermolytic, focal or diffuse semapv:ManualMappingCuration MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:exactMatch OMIM:615744 developmental and epileptic encephalopathy 19 semapv:ManualMappingCuration MONDO:0014329 atrial standstill 2 skos:exactMatch OMIM:615745 atrial standstill 2 semapv:ManualMappingCuration MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:ManualMappingCuration MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch OMIM:615750 moyamoya disease 6 with or without achalasia semapv:ManualMappingCuration MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:ManualMappingCuration MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:exactMatch OMIM:615752 cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian) semapv:ManualMappingCuration MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch OMIM:615758 immunodeficiency 22 semapv:ManualMappingCuration MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:exactMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:ManualMappingCuration MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:ManualMappingCuration MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:exactMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:ManualMappingCuration MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:ManualMappingCuration MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:ManualMappingCuration MONDO:0014340 atrial fibrillation, familial, 15 skos:exactMatch OMIM:615770 atrial fibrillation, familial, 15 semapv:ManualMappingCuration MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:exactMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:ManualMappingCuration MONDO:0014342 female infertility due to zona pellucida defect skos:exactMatch OMIM:615774 oocyte/zygote/embryo maturation arrest 1 semapv:ManualMappingCuration MONDO:0014343 Desbuquois dysplasia 2 skos:exactMatch OMIM:615777 desbuquois dysplasia 2 semapv:ManualMappingCuration MONDO:0014344 congenital heart defects, multiple types, 4 skos:exactMatch OMIM:615779 congenital heart defects, multiple types, 4 semapv:ManualMappingCuration MONDO:0014345 retinitis pigmentosa 69 skos:exactMatch OMIM:615780 retinitis pigmentosa 69 semapv:ManualMappingCuration MONDO:0014346 white sponge nevus 2 skos:exactMatch OMIM:615785 white sponge nevus 2 semapv:ManualMappingCuration MONDO:0014347 Rothmund-Thomson syndrome, type 3 skos:exactMatch OMIM:615789 rothmund-thomson syndrome, type 3 semapv:ManualMappingCuration MONDO:0014348 intellectual disability, autosomal recessive 42 skos:exactMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:ManualMappingCuration MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch OMIM:615803 pontocerebellar hypoplasia, type 10 semapv:ManualMappingCuration MONDO:0014350 Seckel syndrome 8 skos:exactMatch OMIM:615807 seckel syndrome 8 semapv:ManualMappingCuration MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch OMIM:615809 pontocerebellar hypoplasia, type 9 semapv:ManualMappingCuration MONDO:0014352 abdominal obesity-metabolic syndrome 3 skos:exactMatch OMIM:615812 abdominal obesity-metabolic syndrome 3 semapv:ManualMappingCuration MONDO:0014353 immunodeficiency 23 skos:exactMatch OMIM:615816 immunodeficiency 23 semapv:ManualMappingCuration MONDO:0014354 intellectual disability, autosomal recessive 43 skos:exactMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:ManualMappingCuration MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:exactMatch OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:ManualMappingCuration MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch OMIM:615824 mitochondrial complex 3 deficiency, nuclear type 7 semapv:ManualMappingCuration MONDO:0014357 intellectual disability, autosomal dominant 24 skos:exactMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:ManualMappingCuration MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch OMIM:615829 xia-gibbs syndrome semapv:ManualMappingCuration MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:ManualMappingCuration MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:exactMatch OMIM:615833 developmental and epileptic encephalopathy 21 semapv:ManualMappingCuration MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch OMIM:615834 intellectual developmental disorder, autosomal dominant 26 semapv:ManualMappingCuration MONDO:0014362 chromosome 16 inversion, 0.45-Mb skos:exactMatch OMIM:615835 chromosome 16 inversion, 0.45-mb semapv:ManualMappingCuration MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:exactMatch OMIM:615837 deafness, autosomal recessive 101 semapv:ManualMappingCuration MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch OMIM:615838 mitochondrial complex 3 deficiency, nuclear type 8 semapv:ManualMappingCuration MONDO:0014365 spermatogenic failure 13 skos:exactMatch OMIM:615841 spermatogenic failure 13 semapv:ManualMappingCuration MONDO:0014366 spermatogenic failure 14 skos:exactMatch OMIM:615842 spermatogenic failure 14 semapv:ManualMappingCuration MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch OMIM:615846 aicardi-goutieres syndrome 7 semapv:ManualMappingCuration MONDO:0014368 tumor predisposition syndrome 3 skos:exactMatch OMIM:615848 tumor predisposition syndrome 3 semapv:ManualMappingCuration MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch OMIM:615849 culler-jones syndrome semapv:ManualMappingCuration MONDO:0014370 pontocerebellar hypoplasia type 2E skos:exactMatch OMIM:615851 pontocerebellar hypoplasia, type 2e semapv:ManualMappingCuration MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch OMIM:615859 developmental and epileptic encephalopathy 23 semapv:ManualMappingCuration MONDO:0014372 cone-rod dystrophy 19 skos:exactMatch OMIM:615860 cone-rod dystrophy 19 semapv:ManualMappingCuration MONDO:0014373 nephrotic syndrome, type 10 skos:exactMatch OMIM:615861 nephrotic syndrome, type 10 semapv:ManualMappingCuration MONDO:0014374 nephronophthisis 18 skos:exactMatch OMIM:615862 nephronophthisis 18 semapv:ManualMappingCuration MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch OMIM:615863 diarrhea 7, protein-losing enteropathy type semapv:ManualMappingCuration MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:exactMatch OMIM:615871 developmental and epileptic encephalopathy 24 semapv:ManualMappingCuration MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:ManualMappingCuration MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:ManualMappingCuration MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:ManualMappingCuration MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch OMIM:615878 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch OMIM:615879 tatton-brown-rahman syndrome semapv:ManualMappingCuration MONDO:0014383 myopathy, tubular aggregate, 2 skos:exactMatch OMIM:615883 myopathy, tubular aggregate, 2 semapv:ManualMappingCuration MONDO:0014384 hypotrichosis 12 skos:exactMatch OMIM:615885 hypotrichosis 12 semapv:ManualMappingCuration MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:exactMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:ManualMappingCuration MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:ManualMappingCuration MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch OMIM:615889 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch OMIM:615892 orofacial cleft 14 semapv:ManualMappingCuration MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch OMIM:615895 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration MONDO:0014390 hypotrichosis 13 skos:exactMatch OMIM:615896 hypotrichosis 13 semapv:ManualMappingCuration MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch OMIM:615897 immunodeficiency 24 semapv:ManualMappingCuration MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:exactMatch OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta semapv:ManualMappingCuration MONDO:0014393 lymphatic malformation 4 skos:exactMatch OMIM:615907 lymphatic malformation 4 semapv:ManualMappingCuration MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch OMIM:615909 diamond-blackfan anemia 13 semapv:ManualMappingCuration MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch OMIM:615911 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 semapv:ManualMappingCuration MONDO:0014396 dilated cardiomyopathy 1NN skos:exactMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:ManualMappingCuration MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:ManualMappingCuration MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:ManualMappingCuration MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch OMIM:615919 ataxia-telangiectasia-like disorder 2 semapv:ManualMappingCuration MONDO:0014400 retinitis pigmentosa 70 skos:exactMatch OMIM:615922 retinitis pigmentosa 70 semapv:ManualMappingCuration MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch OMIM:615923 epiphyseal chondrodysplasia, miura type semapv:ManualMappingCuration MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:exactMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:ManualMappingCuration MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:ManualMappingCuration MONDO:0014404 Webb-Dattani syndrome skos:exactMatch OMIM:615926 webb-dattani syndrome semapv:ManualMappingCuration MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:ManualMappingCuration MONDO:0014406 pancreatic agenesis 2 skos:exactMatch OMIM:615935 pancreatic agenesis 2 semapv:ManualMappingCuration MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 semapv:ManualMappingCuration MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch OMIM:615938 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 semapv:ManualMappingCuration MONDO:0014409 intellectual disability, autosomal recessive 44 skos:exactMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:ManualMappingCuration MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch OMIM:615945 spinocerebellar ataxia 37 semapv:ManualMappingCuration MONDO:0014411 myopia 24, autosomal dominant skos:exactMatch OMIM:615946 myopia 24, autosomal dominant semapv:ManualMappingCuration MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch OMIM:615947 hyperlipoproteinemia, type 1d semapv:ManualMappingCuration MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch OMIM:615948 orofaciodigital syndrome 14 semapv:ManualMappingCuration MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:ManualMappingCuration MONDO:0014415 kallikrein, decreased urinary activity of skos:exactMatch OMIM:615953 kallikrein, decreased urinary activity of semapv:ManualMappingCuration MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:ManualMappingCuration MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch OMIM:615957 spinocerebellar ataxia 38 semapv:ManualMappingCuration MONDO:0014418 myopathy, centronuclear, 5 skos:exactMatch OMIM:615959 myopathy, centronuclear, 5 semapv:ManualMappingCuration MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:exactMatch OMIM:615960 poretti-boltshauser syndrome semapv:ManualMappingCuration MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch OMIM:615961 acid-labile subunit deficiency semapv:ManualMappingCuration MONDO:0014421 glucocorticoid resistance skos:exactMatch OMIM:615962 glucocorticoid resistance, generalized semapv:ManualMappingCuration MONDO:0014422 vesicoureteral reflux 8 skos:exactMatch OMIM:615963 vesicoureteral reflux 8 semapv:ManualMappingCuration MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:ManualMappingCuration MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein skos:exactMatch OMIM:615969 alpha-fetoprotein deficiency semapv:ManualMappingCuration MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein skos:exactMatch OMIM:615970 alpha-fetoprotein, hereditary persistence of semapv:ManualMappingCuration MONDO:0014426 nanophthalmos 4 skos:exactMatch OMIM:615972 nanophthalmos 4 semapv:ManualMappingCuration MONDO:0014427 cone-rod dystrophy 20 skos:exactMatch OMIM:615973 cone-rod dystrophy 20 semapv:ManualMappingCuration MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:exactMatch OMIM:615974 deafness, autosomal recessive 102 semapv:ManualMappingCuration MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch OMIM:615978 immunodeficiency 27b semapv:ManualMappingCuration MONDO:0014430 intellectual disability, autosomal recessive 45 skos:exactMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:ManualMappingCuration MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch OMIM:615980 lipodystrophy, familial partial, type 6 semapv:ManualMappingCuration MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch OMIM:615981 bardet-biedl syndrome 2 semapv:ManualMappingCuration MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch OMIM:615982 bardet-biedl syndrome 4 semapv:ManualMappingCuration MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch OMIM:615983 bardet-biedl syndrome 5 semapv:ManualMappingCuration MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch OMIM:615984 bardet-biedl syndrome 7 semapv:ManualMappingCuration MONDO:0014436 Bardet-Biedl syndrome 8 skos:exactMatch OMIM:615985 bardet-biedl syndrome 8 semapv:ManualMappingCuration MONDO:0014437 Bardet-Biedl syndrome 9 skos:exactMatch OMIM:615986 bardet-biedl syndrome 9 semapv:ManualMappingCuration MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch OMIM:615987 bardet-biedl syndrome 10 semapv:ManualMappingCuration MONDO:0014439 Bardet-Biedl syndrome 11 skos:exactMatch OMIM:615988 bardet-biedl syndrome 11 semapv:ManualMappingCuration MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch OMIM:615989 bardet-biedl syndrome 12 semapv:ManualMappingCuration MONDO:0014441 Bardet-Biedl syndrome 13 skos:exactMatch OMIM:615990 bardet-biedl syndrome 13 semapv:ManualMappingCuration MONDO:0014442 Bardet-Biedl syndrome 14 skos:exactMatch OMIM:615991 bardet-biedl syndrome 14 semapv:ManualMappingCuration MONDO:0014443 Bardet-Biedl syndrome 15 skos:exactMatch OMIM:615992 bardet-biedl syndrome 15 semapv:ManualMappingCuration MONDO:0014444 Bardet-Biedl syndrome 16 skos:exactMatch OMIM:615993 bardet-biedl syndrome 16 semapv:ManualMappingCuration MONDO:0014445 Bardet-Biedl syndrome 17 skos:exactMatch OMIM:615994 bardet-biedl syndrome 17 semapv:ManualMappingCuration MONDO:0014446 Bardet-Biedl syndrome 18 skos:exactMatch OMIM:615995 bardet-biedl syndrome 18 semapv:ManualMappingCuration MONDO:0014447 Bardet-Biedl syndrome 19 skos:exactMatch OMIM:615996 bardet-biedl syndrome 19 semapv:ManualMappingCuration MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:ManualMappingCuration MONDO:0014449 congenital analbuminemia skos:exactMatch OMIM:616000 analbuminemia semapv:ManualMappingCuration MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 semapv:ManualMappingCuration MONDO:0014451 focal segmental glomerulosclerosis 7 skos:exactMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:ManualMappingCuration MONDO:0014452 familial dysfibrinogenemia skos:exactMatch OMIM:616004 dysfibrinogenemia, congenital semapv:ManualMappingCuration MONDO:0014453 immunodeficiency 36 skos:exactMatch OMIM:616005 immunodeficiency 36 with lymphoproliferation semapv:ManualMappingCuration MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 semapv:ManualMappingCuration MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:ManualMappingCuration MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:ManualMappingCuration MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:ManualMappingCuration MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:ManualMappingCuration MONDO:0014459 Adams-Oliver syndrome 5 skos:exactMatch OMIM:616028 adams-oliver syndrome 5 semapv:ManualMappingCuration MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:ManualMappingCuration MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch OMIM:616030 hypogonadotropic hypogonadism 22 with or without anosmia semapv:ManualMappingCuration MONDO:0014462 focal segmental glomerulosclerosis 8 skos:exactMatch OMIM:616032 focal segmental glomerulosclerosis 8 semapv:ManualMappingCuration MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch OMIM:616034 2,4-dienoyl-coa reductase deficiency semapv:ManualMappingCuration MONDO:0014465 primary ciliary dyskinesia 30 skos:exactMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:ManualMappingCuration MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch OMIM:616038 neu-laxova syndrome 2 semapv:ManualMappingCuration MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:ManualMappingCuration MONDO:0014468 congenital myasthenic syndrome 7 skos:exactMatch OMIM:616040 myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant semapv:ManualMappingCuration MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:exactMatch OMIM:616042 deafness, autosomal recessive 103 semapv:ManualMappingCuration MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:exactMatch OMIM:616044 deafness, autosomal dominant 65 semapv:ManualMappingCuration MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:ManualMappingCuration MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:exactMatch OMIM:616051 microcephaly 13, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 semapv:ManualMappingCuration MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch OMIM:616053 spinocerebellar ataxia 40 semapv:ManualMappingCuration MONDO:0014476 episodic ataxia type 8 skos:exactMatch OMIM:616055 episodic ataxia, type 8 semapv:ManualMappingCuration MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch OMIM:616056 developmental and epileptic encephalopathy 26 semapv:ManualMappingCuration MONDO:0014478 mirror movements 3 skos:exactMatch OMIM:616059 mirror movements 3 semapv:ManualMappingCuration MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:exactMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic type semapv:ManualMappingCuration MONDO:0014480 46,XY sex reversal 9 skos:exactMatch OMIM:616067 46,xy sex reversal 9 semapv:ManualMappingCuration MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch OMIM:616069 neonatal nephrocutaneous inflammatory syndrome semapv:ManualMappingCuration MONDO:0014482 intellectual disability, autosomal dominant 29 skos:exactMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:ManualMappingCuration MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:ManualMappingCuration MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:exactMatch OMIM:616080 microcephaly 12, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:exactMatch OMIM:616081 pontocerebellar hypoplasia, type 1c semapv:ManualMappingCuration MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities semapv:ManualMappingCuration MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:ManualMappingCuration MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 skos:exactMatch OMIM:616087 type 2 diabetes 5 semapv:ManualMappingCuration MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 semapv:ManualMappingCuration MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:ManualMappingCuration MONDO:0014491 immunodeficiency 37 skos:exactMatch OMIM:616098 immunodeficiency 37 semapv:ManualMappingCuration MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:ManualMappingCuration MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency skos:exactMatch OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation semapv:ManualMappingCuration MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:exactMatch OMIM:616106 psoriasis 15, pustular, susceptibility to semapv:ManualMappingCuration MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:ManualMappingCuration MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch OMIM:616111 mitochondrial complex 3 deficiency, nuclear type 9 semapv:ManualMappingCuration MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:exactMatch OMIM:616113 polyendocrine-polyneuropathy syndrome semapv:ManualMappingCuration MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch OMIM:616115 familial cold autoinflammatory syndrome 4 semapv:ManualMappingCuration MONDO:0014499 intellectual disability, autosomal recessive 46 skos:exactMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:ManualMappingCuration MONDO:0014500 atrial conduction disease skos:exactMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:ManualMappingCuration MONDO:0014501 macular degeneration, early-onset skos:exactMatch OMIM:616118 macular degeneration, early-onset semapv:ManualMappingCuration MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:ManualMappingCuration MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:ManualMappingCuration MONDO:0014504 Perrault syndrome 5 skos:exactMatch OMIM:616138 perrault syndrome 5 semapv:ManualMappingCuration MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:exactMatch OMIM:616139 developmental and epileptic encephalopathy 27 semapv:ManualMappingCuration MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:ManualMappingCuration MONDO:0014507 Catel-Manzke syndrome skos:exactMatch OMIM:616145 catel-manzke syndrome semapv:ManualMappingCuration MONDO:0014508 vitelliform macular dystrophy 4 skos:exactMatch OMIM:616151 macular dystrophy, vitelliform, 4 semapv:ManualMappingCuration MONDO:0014509 vitelliform macular dystrophy 5 skos:exactMatch OMIM:616152 macular dystrophy, vitelliform, 5 semapv:ManualMappingCuration MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:ManualMappingCuration MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch OMIM:616155 charcot-marie-tooth disease, axonal, type 2s semapv:ManualMappingCuration MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch OMIM:616158 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties semapv:ManualMappingCuration MONDO:0014513 nemaline myopathy 10 skos:exactMatch OMIM:616165 nemaline myopathy 10 semapv:ManualMappingCuration MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:exactMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:ManualMappingCuration MONDO:0014515 macular dystrophy with central cone involvement skos:exactMatch OMIM:616170 macular dystrophy with central cone involvement semapv:ManualMappingCuration MONDO:0014516 microcephaly and chorioretinopathy 2 skos:exactMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:ManualMappingCuration MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch OMIM:616172 generalized epilepsy with febrile seizures plus, type 9 semapv:ManualMappingCuration MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:ManualMappingCuration MONDO:0014519 chronic mountain sickness, susceptibility to skos:exactMatch OMIM:616182 chronic mountain sickness, susceptibility to semapv:ManualMappingCuration MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch OMIM:616185 ovarian dysgenesis 4 semapv:ManualMappingCuration MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:ManualMappingCuration MONDO:0014522 retinal dystrophy and obesity skos:exactMatch OMIM:616188 retinal dystrophy and obesity semapv:ManualMappingCuration MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:ManualMappingCuration MONDO:0014524 intellectual disability, autosomal recessive 47 skos:exactMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:ManualMappingCuration MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:ManualMappingCuration MONDO:0014526 polyglucosan body myopathy type 2 skos:exactMatch OMIM:616199 polyglucosan body myopathy 2 semapv:ManualMappingCuration MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch OMIM:616200 ruijs-aalfs syndrome semapv:ManualMappingCuration MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:ManualMappingCuration MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch OMIM:616202 cerebellofaciodental syndrome semapv:ManualMappingCuration MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:ManualMappingCuration MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:exactMatch OMIM:616208 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia semapv:ManualMappingCuration MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:ManualMappingCuration MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:exactMatch OMIM:616211 developmental and epileptic encephalopathy 28 semapv:ManualMappingCuration MONDO:0014534 lissencephaly 6 with microcephaly skos:exactMatch OMIM:616212 lissencephaly 6 with microcephaly semapv:ManualMappingCuration MONDO:0014535 hyperproinsulinemia skos:exactMatch OMIM:616214 hyperproinsulinemia semapv:ManualMappingCuration MONDO:0014536 thrombocytopenia 5 skos:exactMatch OMIM:616216 thrombocytopenia 5 semapv:ManualMappingCuration MONDO:0014537 nephronophthisis 19 skos:exactMatch OMIM:616217 nephronophthisis 19 semapv:ManualMappingCuration MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch OMIM:616219 fibrosis of extraocular muscles, congenital, 5 semapv:ManualMappingCuration MONDO:0014539 focal segmental glomerulosclerosis 9 skos:exactMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:ManualMappingCuration MONDO:0014540 amelogenesis imperfecta type 1H skos:exactMatch OMIM:616221 amelogenesis imperfecta, type 1h semapv:ManualMappingCuration MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch OMIM:616222 temple syndrome semapv:ManualMappingCuration MONDO:0014542 congenital myasthenic syndrome 15 skos:exactMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:ManualMappingCuration MONDO:0014543 congenital myasthenic syndrome 14 skos:exactMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:ManualMappingCuration MONDO:0014544 osteogenesis imperfecta type 16 skos:exactMatch OMIM:616229 osteogenesis imperfecta, type 16 semapv:ManualMappingCuration MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:ManualMappingCuration MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:ManualMappingCuration MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:ManualMappingCuration MONDO:0014548 long QT syndrome 14 skos:exactMatch OMIM:616247 long qt syndrome 14 semapv:ManualMappingCuration MONDO:0014549 lethal congenital contracture syndrome 6 skos:exactMatch OMIM:616248 lethal congenital contracture syndrome 6 semapv:ManualMappingCuration MONDO:0014550 long QT syndrome 15 skos:exactMatch OMIM:616249 long qt syndrome 15 semapv:ManualMappingCuration MONDO:0014551 short stature with nonspecific skeletal abnormalities 1 skos:exactMatch OMIM:616255 short stature with nonspecific skeletal abnormalities 1 semapv:ManualMappingCuration MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch OMIM:616258 meckel syndrome 12 semapv:ManualMappingCuration MONDO:0014553 Tenorio syndrome skos:exactMatch OMIM:616260 tenorio syndrome semapv:ManualMappingCuration MONDO:0014555 peeling skin syndrome type A skos:exactMatch OMIM:616265 peeling skin syndrome 3 semapv:ManualMappingCuration MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch OMIM:616266 congenital contractures of the limbs and face, hypotonia, and developmental delay semapv:ManualMappingCuration MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:ManualMappingCuration MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch OMIM:616268 arboleda-tham syndrome semapv:ManualMappingCuration MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:ManualMappingCuration MONDO:0014560 amelogenesis imperfecta type 1F skos:exactMatch OMIM:616270 amelogenesis imperfecta, type 1f semapv:ManualMappingCuration MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch OMIM:616271 3-methylglutaconic aciduria, type 7b semapv:ManualMappingCuration MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:ManualMappingCuration MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:ManualMappingCuration MONDO:0014564 congenital bile acid synthesis defect 5 skos:exactMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:ManualMappingCuration MONDO:0014565 cataract 43 skos:exactMatch OMIM:616279 cataract 43 semapv:ManualMappingCuration MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch OMIM:616280 charcot-marie-tooth disease, axonal, type 2u semapv:ManualMappingCuration MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:ManualMappingCuration MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:ManualMappingCuration MONDO:0014569 lethal congenital contracture syndrome 7 skos:exactMatch OMIM:616286 lethal congenital contracture syndrome 7 semapv:ManualMappingCuration MONDO:0014570 lethal congenital contracture syndrome 8 skos:exactMatch OMIM:616287 lethal congenital contracture syndrome 8 semapv:ManualMappingCuration MONDO:0014571 optic atrophy 9 skos:exactMatch OMIM:616289 optic atrophy 9 semapv:ManualMappingCuration MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch OMIM:616291 lichtenstein-knorr syndrome semapv:ManualMappingCuration MONDO:0014573 Cole-Carpenter syndrome 2 skos:exactMatch OMIM:616294 cole-carpenter syndrome 2 semapv:ManualMappingCuration MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:ManualMappingCuration MONDO:0014575 Singleton-Merten syndrome 2 skos:exactMatch OMIM:616298 singleton-merten syndrome 2 semapv:ManualMappingCuration MONDO:0014576 lipoyl transferase 1 deficiency skos:exactMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:ManualMappingCuration MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch OMIM:616300 short-rib thoracic dysplasia 13 with or without polydactyly semapv:ManualMappingCuration MONDO:0014578 congenital myasthenic syndrome 17 skos:exactMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:ManualMappingCuration MONDO:0014579 Senior-Loken syndrome 8 skos:exactMatch OMIM:616307 senior-loken syndrome 8 semapv:ManualMappingCuration MONDO:0014580 intellectual disability, autosomal dominant 33 skos:exactMatch OMIM:616311 intellectual developmental disorder, autosomal dominant 33 semapv:ManualMappingCuration MONDO:0014581 congenital myasthenic syndrome 2A skos:exactMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:ManualMappingCuration MONDO:0014582 congenital myasthenic syndrome 2C skos:exactMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:ManualMappingCuration MONDO:0014583 congenital myasthenic syndrome 3A skos:exactMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:ManualMappingCuration MONDO:0014584 congenital myasthenic syndrome 3B skos:exactMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:ManualMappingCuration MONDO:0014585 congenital myasthenic syndrome 3C skos:exactMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:ManualMappingCuration MONDO:0014586 congenital myasthenic syndrome 4B skos:exactMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:ManualMappingCuration MONDO:0014587 congenital myasthenic syndrome 9 skos:exactMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:ManualMappingCuration MONDO:0014588 congenital myasthenic syndrome 11 skos:exactMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:ManualMappingCuration MONDO:0014589 maturity-onset diabetes of the young type 13 skos:exactMatch OMIM:616329 maturity-onset diabetes of the young, type 13 semapv:ManualMappingCuration MONDO:0014590 congenital myasthenic syndrome 18 skos:exactMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:ManualMappingCuration MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:exactMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0014592 microcephaly and chorioretinopathy 3 skos:exactMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:ManualMappingCuration MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:exactMatch OMIM:616339 developmental and epileptic encephalopathy 29 semapv:ManualMappingCuration MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:exactMatch OMIM:616340 deafness, autosomal dominant 67 semapv:ManualMappingCuration MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:exactMatch OMIM:616341 developmental and epileptic encephalopathy 30 semapv:ManualMappingCuration MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch OMIM:616342 lissencephaly 7 with cerebellar hypoplasia semapv:ManualMappingCuration MONDO:0014597 immunodeficiency 39 skos:exactMatch OMIM:616345 immunodeficiency 39 semapv:ManualMappingCuration MONDO:0014598 developmental and epileptic encephalopathy, 31A skos:exactMatch OMIM:616346 developmental and epileptic encephalopathy 31a semapv:ManualMappingCuration MONDO:0014599 intellectual disability, autosomal dominant 34 skos:exactMatch OMIM:616351 neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies semapv:ManualMappingCuration MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch OMIM:616353 dyskeratosis congenita, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:ManualMappingCuration MONDO:0014602 Hogue-Janssens syndrome 1 skos:exactMatch OMIM:616355 houge-janssens syndrome 1 semapv:ManualMappingCuration MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:exactMatch OMIM:616357 deafness, autosomal dominant 40 semapv:ManualMappingCuration MONDO:0014604 Parkinson disease 21 skos:exactMatch OMIM:616361 parkinson disease 21 semapv:ManualMappingCuration MONDO:0014605 Houge-Janssens syndrome 2 skos:exactMatch OMIM:616362 houge-janssens syndrome 2 semapv:ManualMappingCuration MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch OMIM:616364 white-sutton syndrome semapv:ManualMappingCuration MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch OMIM:616366 developmental and epileptic encephalopathy 32 semapv:ManualMappingCuration MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch OMIM:616367 mandibulofacial dysostosis with alopecia semapv:ManualMappingCuration MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch OMIM:616368 CHOPS syndrome semapv:ManualMappingCuration MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 semapv:ManualMappingCuration MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:exactMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 semapv:ManualMappingCuration MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:exactMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 semapv:ManualMappingCuration MONDO:0014614 congenital stationary night blindness 1G skos:exactMatch OMIM:616389 night blindness, congenital stationary, type 1g semapv:ManualMappingCuration MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch OMIM:616390 trichothiodystrophy 2, photosensitive semapv:ManualMappingCuration MONDO:0014616 obsolete Skint1-like pseudogene skos:exactMatch OMIM:616392 skint1-like pseudogene semapv:ManualMappingCuration MONDO:0014617 intellectual disability, autosomal dominant 38 skos:exactMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:ManualMappingCuration MONDO:0014618 retinitis pigmentosa 71 skos:exactMatch OMIM:616394 retinitis pigmentosa 71 semapv:ManualMappingCuration MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:ManualMappingCuration MONDO:0014620 myoclonic dystonia 26 skos:exactMatch OMIM:616398 dystonia 26, myoclonic semapv:ManualMappingCuration MONDO:0014621 Brugada syndrome 9 skos:exactMatch OMIM:616399 brugada syndrome 9 semapv:ManualMappingCuration MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:ManualMappingCuration MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:exactMatch OMIM:616402 microcephaly 14, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014624 Brown syndrome skos:exactMatch OMIM:616407 brown syndrome semapv:ManualMappingCuration MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:exactMatch OMIM:616409 developmental and epileptic encephalopathy 33 semapv:ManualMappingCuration MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch OMIM:616410 spinocerebellar ataxia 41 semapv:ManualMappingCuration MONDO:0014627 dystonia 27 skos:exactMatch OMIM:616411 dystonia 27 semapv:ManualMappingCuration MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:exactMatch OMIM:616413 basal ganglia calcification, idiopathic, 6 semapv:ManualMappingCuration MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation semapv:ManualMappingCuration MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch OMIM:616415 familial adenomatous polyposis 3 semapv:ManualMappingCuration MONDO:0014632 hypomyelinating leukodystrophy 10 skos:exactMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:ManualMappingCuration MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch OMIM:616421 myoclonic-atonic epilepsy semapv:ManualMappingCuration MONDO:0014634 46,XY sex reversal 10 skos:exactMatch OMIM:616425 46,xy sex reversal 10 semapv:ManualMappingCuration MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:exactMatch OMIM:616428 microphthalmia/coloboma 10 semapv:ManualMappingCuration MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:ManualMappingCuration MONDO:0014637 DOCK2 deficiency skos:exactMatch OMIM:616433 immunodeficiency 40 semapv:ManualMappingCuration MONDO:0014638 Fanconi anemia complementation group T skos:exactMatch OMIM:616435 fanconi anemia, complementation group t semapv:ManualMappingCuration MONDO:0014639 familial temporal lobe epilepsy 7 skos:exactMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:ManualMappingCuration MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:616437 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 semapv:ManualMappingCuration MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch OMIM:616439 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 semapv:ManualMappingCuration MONDO:0014642 candidiasis, familial, 9 skos:exactMatch OMIM:616445 candidiasis, familial, 9 semapv:ManualMappingCuration MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:exactMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:ManualMappingCuration MONDO:0014644 hereditary spastic paraplegia 74 skos:exactMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:ManualMappingCuration MONDO:0014645 BENTA disease skos:exactMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:ManualMappingCuration MONDO:0014646 Zimmermann-Laband syndrome 2 skos:exactMatch OMIM:616455 zimmermann-laband syndrome 2 semapv:ManualMappingCuration MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch OMIM:616457 developmental and epileptic encephalopathy 50 semapv:ManualMappingCuration MONDO:0014648 Al-Raqad syndrome skos:exactMatch OMIM:616459 al-raqad syndrome semapv:ManualMappingCuration MONDO:0014649 intellectual disability, autosomal recessive 50 skos:exactMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:ManualMappingCuration MONDO:0014650 familial temporal lobe epilepsy 8 skos:exactMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:ManualMappingCuration MONDO:0014651 acrofacial dysostosis Cincinnati type skos:exactMatch OMIM:616462 acrofacial dysostosis, cincinnati type semapv:ManualMappingCuration MONDO:0014652 exudative vitreoretinopathy 6 skos:exactMatch OMIM:616468 exudative vitreoretinopathy 6 semapv:ManualMappingCuration MONDO:0014653 retinitis pigmentosa 72 skos:exactMatch OMIM:616469 retinitis pigmentosa 72 semapv:ManualMappingCuration MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch OMIM:616470 ullrich congenital muscular dystrophy 2 semapv:ManualMappingCuration MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:exactMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0014657 primary ciliary dyskinesia 32 skos:exactMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:ManualMappingCuration MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:ManualMappingCuration MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch OMIM:616483 infantile liver failure syndrome 2 semapv:ManualMappingCuration MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:exactMatch OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities semapv:ManualMappingCuration MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy skos:exactMatch OMIM:616487 epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive semapv:ManualMappingCuration MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, type 8 semapv:ManualMappingCuration MONDO:0014663 Silver-Russell syndrome 3 skos:exactMatch OMIM:616489 silver-russell syndrome 3 semapv:ManualMappingCuration MONDO:0014664 Joubert syndrome 23 skos:exactMatch OMIM:616490 joubert syndrome 23 semapv:ManualMappingCuration MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch OMIM:616491 charcot-marie-tooth disease, axonal, type 2v semapv:ManualMappingCuration MONDO:0014666 hypomyelinating leukodystrophy 11 skos:exactMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:ManualMappingCuration MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:exactMatch OMIM:616500 mitochondrial complex 4 deficiency, nuclear type 9 semapv:ManualMappingCuration MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:exactMatch OMIM:616501 mitochondrial complex 4 deficiency, nuclear type 13 semapv:ManualMappingCuration MONDO:0014669 cone-rod dystrophy 21 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:ManualMappingCuration MONDO:0014670 lethal congenital contracture syndrome 9 skos:exactMatch OMIM:616503 lethal congenital contracture syndrome 9 semapv:ManualMappingCuration MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:exactMatch OMIM:616505 neuropathy, hereditary motor and sensory, type vib, with optic atrophy semapv:ManualMappingCuration MONDO:0014672 osteogenesis imperfecta type 17 skos:exactMatch OMIM:616507 osteogenesis imperfecta, type 17 semapv:ManualMappingCuration MONDO:0014673 cataract 44 skos:exactMatch OMIM:616509 cataract 44 semapv:ManualMappingCuration MONDO:0014674 maturity-onset diabetes of the young type 14 skos:exactMatch OMIM:616511 maturity-onset diabetes of the young, type 14 semapv:ManualMappingCuration MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:exactMatch OMIM:616515 deafness, autosomal recessive 104 semapv:ManualMappingCuration MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:ManualMappingCuration MONDO:0014677 achromatopsia 7 skos:exactMatch OMIM:616517 achromatopsia 7 semapv:ManualMappingCuration MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:ManualMappingCuration MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:exactMatch OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities semapv:ManualMappingCuration MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:ManualMappingCuration MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:exactMatch OMIM:616534 thyroid cancer, nonmedullary, 4 semapv:ManualMappingCuration MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:exactMatch OMIM:616535 thyroid cancer, nonmedullary, 5 semapv:ManualMappingCuration MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:exactMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 semapv:ManualMappingCuration MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:ManualMappingCuration MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:ManualMappingCuration MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:exactMatch OMIM:616541 short stature, microcephaly, and endocrine dysfunction semapv:ManualMappingCuration MONDO:0014687 retinitis pigmentosa 73 skos:exactMatch OMIM:616544 retinitis pigmentosa 73 semapv:ManualMappingCuration MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch OMIM:616546 short-rib thoracic dysplasia 14 with polydactyly semapv:ManualMappingCuration MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:ManualMappingCuration MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch OMIM:616553 dyskeratosis congenita, autosomal dominant 6 semapv:ManualMappingCuration MONDO:0014691 Noonan syndrome 9 skos:exactMatch OMIM:616559 noonan syndrome 9 semapv:ManualMappingCuration MONDO:0014692 retinitis pigmentosa 74 skos:exactMatch OMIM:616562 retinitis pigmentosa 74 semapv:ManualMappingCuration MONDO:0014693 Noonan syndrome 10 skos:exactMatch OMIM:616564 noonan syndrome 10 semapv:ManualMappingCuration MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:exactMatch OMIM:616566 spondylocostal dysostosis 6, autosomal recessive semapv:ManualMappingCuration MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch OMIM:616570 cerebrooculofacioskeletal syndrome 3 semapv:ManualMappingCuration MONDO:0014697 immunodeficiency, common variable, 12 skos:exactMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:ManualMappingCuration MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:ManualMappingCuration MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch OMIM:616579 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features semapv:ManualMappingCuration MONDO:0014700 Au-Kline syndrome skos:exactMatch OMIM:616580 au-kline syndrome semapv:ManualMappingCuration MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch OMIM:616583 spondyloepiphyseal dysplasia, stanescu type semapv:ManualMappingCuration MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:ManualMappingCuration MONDO:0014703 Adams-Oliver syndrome 6 skos:exactMatch OMIM:616589 adams-oliver syndrome 6 semapv:ManualMappingCuration MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch OMIM:616592 kosaki overgrowth syndrome semapv:ManualMappingCuration MONDO:0014705 craniosynostosis 6 skos:exactMatch OMIM:616602 craniosynostosis 6 semapv:ManualMappingCuration MONDO:0014706 cutis laxa, autosomal dominant 3 skos:exactMatch OMIM:616603 cutis laxa, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0014707 14q32 duplication syndrome skos:exactMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:ManualMappingCuration MONDO:0014708 ring chromosome 14 skos:exactMatch OMIM:616606 ring chromosome 14 syndrome semapv:ManualMappingCuration MONDO:0014709 obsolete Heimler syndrome 2 skos:exactMatch OMIM:616617 heimler syndrome 2 semapv:ManualMappingCuration MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch OMIM:616622 immunodeficiency 42 semapv:ManualMappingCuration MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch OMIM:616625 charcot-marie-tooth disease, axonal, type 2w semapv:ManualMappingCuration MONDO:0014712 Senior-Loken syndrome 9 skos:exactMatch OMIM:616629 senior-loken syndrome 9 semapv:ManualMappingCuration MONDO:0014713 porokeratosis 9, multiple types skos:exactMatch OMIM:616631 porokeratosis 9, multiple types semapv:ManualMappingCuration MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:ManualMappingCuration MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch OMIM:616636 immunodeficiency 44 semapv:ManualMappingCuration MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch OMIM:616638 smith-kingsmore syndrome semapv:ManualMappingCuration MONDO:0014717 early-onset Lafora body disease skos:exactMatch OMIM:616640 epilepsy, progressive myoclonic, 10 semapv:ManualMappingCuration MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:exactMatch OMIM:616645 developmental and epileptic encephalopathy 34 semapv:ManualMappingCuration MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:exactMatch OMIM:616647 developmental and epileptic encephalopathy 35 semapv:ManualMappingCuration MONDO:0014722 Roifman syndrome skos:exactMatch OMIM:616651 roifman syndrome semapv:ManualMappingCuration MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch OMIM:616652 yuan-harel-lupski syndrome semapv:ManualMappingCuration MONDO:0014724 Joubert syndrome 24 skos:exactMatch OMIM:616654 joubert syndrome 24 semapv:ManualMappingCuration MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:ManualMappingCuration MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch OMIM:616668 charcot-marie-tooth disease, axonal, type 2x semapv:ManualMappingCuration MONDO:0014727 immunodeficiency 45 skos:exactMatch OMIM:616669 immunodeficiency 45 semapv:ManualMappingCuration MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch OMIM:616672 combined oxidative phosphorylation deficiency 27 semapv:ManualMappingCuration MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch OMIM:616680 spastic paraplegia 75, autosomal recessive semapv:ManualMappingCuration MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:exactMatch OMIM:616681 microcephaly 16, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome semapv:ManualMappingCuration MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch OMIM:616683 leukodystrophy, hypomyelinating, 12 semapv:ManualMappingCuration MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch OMIM:616684 charcot-marie-tooth disease, demyelinating, type 4k semapv:ManualMappingCuration MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 skos:exactMatch OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 semapv:ManualMappingCuration MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch OMIM:616687 charcot-marie-tooth disease, axonal, type 2y semapv:ManualMappingCuration MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch OMIM:616688 charcot-marie-tooth disease, axonal, type 2z semapv:ManualMappingCuration MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:exactMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:ManualMappingCuration MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:exactMatch OMIM:616697 deafness, autosomal dominant 69 semapv:ManualMappingCuration MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:exactMatch OMIM:616705 deafness, autosomal recessive 97 semapv:ManualMappingCuration MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:exactMatch OMIM:616707 deafness, autosomal dominant 68 semapv:ManualMappingCuration MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:ManualMappingCuration MONDO:0014742 Parkinson disease 22, autosomal dominant skos:exactMatch OMIM:616710 parkinson disease 22, autosomal dominant semapv:ManualMappingCuration MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch OMIM:616716 rhizomelic chondrodysplasia punctata, type 5 semapv:ManualMappingCuration MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:ManualMappingCuration MONDO:0014745 congenital myasthenic syndrome 19 skos:exactMatch OMIM:616720 myasthenic syndrome, congenital, 19 semapv:ManualMappingCuration MONDO:0014746 SLC39A8-CDG skos:exactMatch OMIM:616721 congenital disorder of glycosylation, type iin semapv:ManualMappingCuration MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch OMIM:616722 retinal dystrophy and iris coloboma with or without cataract semapv:ManualMappingCuration MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya type semapv:ManualMappingCuration MONDO:0014749 tooth agenesis, selective, 7 skos:exactMatch OMIM:616724 tooth agenesis, selective, 7 semapv:ManualMappingCuration MONDO:0014750 primary ciliary dyskinesia 33 skos:exactMatch OMIM:616726 ciliary dyskinesia, primary, 33 semapv:ManualMappingCuration MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:ManualMappingCuration MONDO:0014752 nephrotic syndrome, type 11 skos:exactMatch OMIM:616730 nephrotic syndrome, type 11 semapv:ManualMappingCuration MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:exactMatch OMIM:616733 coenzyme Q10 deficiency, primary, 8 semapv:ManualMappingCuration MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:exactMatch OMIM:616734 skin creases, congenital symmetric circumferential, 2 semapv:ManualMappingCuration MONDO:0014756 tremor, hereditary essential, 5 skos:exactMatch OMIM:616736 tremor, hereditary essential, 5 semapv:ManualMappingCuration MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch OMIM:616737 takenouchi-kosaki syndrome semapv:ManualMappingCuration MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch OMIM:616738 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 semapv:ManualMappingCuration MONDO:0014759 intellectual disability, autosomal recessive 51 skos:exactMatch OMIM:616739 intellectual developmental disorder, autosomal recessive 51 semapv:ManualMappingCuration MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch OMIM:616740 immunodeficiency 46 semapv:ManualMappingCuration MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:exactMatch OMIM:616749 heterotaxy, visceral, 7, autosomal semapv:ManualMappingCuration MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:ManualMappingCuration MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:ManualMappingCuration MONDO:0014765 wooly hair, autosomal recessive 3 skos:exactMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:exactMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:ManualMappingCuration MONDO:0014767 Seckel syndrome 9 skos:exactMatch OMIM:616777 seckel syndrome 9 semapv:ManualMappingCuration MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:exactMatch OMIM:616779 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 semapv:ManualMappingCuration MONDO:0014770 Joubert syndrome 25 skos:exactMatch OMIM:616781 joubert syndrome 25 semapv:ManualMappingCuration MONDO:0014771 Joubert syndrome 26 skos:exactMatch OMIM:616784 joubert syndrome 26 semapv:ManualMappingCuration MONDO:0014772 orofacial cleft 15 skos:exactMatch OMIM:616788 orofacial cleft 15 semapv:ManualMappingCuration MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:exactMatch OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects semapv:ManualMappingCuration MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:exactMatch OMIM:616792 neuroblastoma, susceptibility to, 7 semapv:ManualMappingCuration MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch OMIM:616794 combined oxidative phosphorylation deficiency 28 semapv:ManualMappingCuration MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch OMIM:616795 spinocerebellar ataxia 42 semapv:ManualMappingCuration MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch OMIM:616801 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 semapv:ManualMappingCuration MONDO:0014778 Lamb-Shaffer syndrome skos:exactMatch OMIM:616803 lamb-shaffer syndrome semapv:ManualMappingCuration MONDO:0014779 Wilms tumor 6 skos:exactMatch OMIM:616806 wilms tumor 6 semapv:ManualMappingCuration MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:ManualMappingCuration MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch OMIM:616811 combined oxidative phosphorylation deficiency 29 semapv:ManualMappingCuration MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch OMIM:616812 muscular dystrophy, limb-girdle, autosomal recessive 25 semapv:ManualMappingCuration MONDO:0014783 obsolete preimplantation embryonic lethality 1 skos:exactMatch OMIM:616814 oocyte/zygote/embryo maturation arrest 15 semapv:ManualMappingCuration MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch OMIM:616816 hypotonia, infantile, with psychomotor retardation semapv:ManualMappingCuration MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch OMIM:616817 microcephaly, short stature, and impaired glucose metabolism 2 semapv:ManualMappingCuration MONDO:0014786 IgA nephropathy, susceptibility to, 3 skos:exactMatch OMIM:616818 iga nephropathy, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:ManualMappingCuration MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch OMIM:616827 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue semapv:ManualMappingCuration MONDO:0014789 CCDC115-CDG skos:exactMatch OMIM:616828 congenital disorder of glycosylation, type iio semapv:ManualMappingCuration MONDO:0014790 TMEM199-CDG skos:exactMatch OMIM:616829 congenital disorder of glycosylation, type iip semapv:ManualMappingCuration MONDO:0014791 Luscan-Lumish syndrome skos:exactMatch OMIM:616831 luscan-lumish syndrome semapv:ManualMappingCuration MONDO:0014792 Paget disease of bone 6 skos:exactMatch OMIM:616833 paget disease of bone 6 semapv:ManualMappingCuration MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:ManualMappingCuration MONDO:0014794 Meier-Gorlin syndrome 6 skos:exactMatch OMIM:616835 meier-gorlin syndrome 6 semapv:ManualMappingCuration MONDO:0014795 exercise intolerance, riboflavin-responsive skos:exactMatch OMIM:616839 exercise intolerance, riboflavin-responsive semapv:ManualMappingCuration MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:exactMatch OMIM:616840 parkinson disease 23, autosomal recessive early-onset semapv:ManualMappingCuration MONDO:0014797 lymphatic malformation 6 skos:exactMatch OMIM:616843 lymphatic malformation 6 semapv:ManualMappingCuration MONDO:0014798 brachydactyly type A1D skos:exactMatch OMIM:616849 brachydactyly, type a1, d semapv:ManualMappingCuration MONDO:0014799 cataract 45 skos:exactMatch OMIM:616851 cataract 45 semapv:ManualMappingCuration MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch OMIM:616852 myopathy, scapulohumeroperoneal semapv:ManualMappingCuration MONDO:0014801 even-plus syndrome skos:exactMatch OMIM:616854 even-plus syndrome semapv:ManualMappingCuration MONDO:0014802 Cowden syndrome 7 skos:exactMatch OMIM:616858 cowden syndrome 7 semapv:ManualMappingCuration MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch OMIM:616859 spasticity, childhood-onset, with hyperglycinemia semapv:ManualMappingCuration MONDO:0014804 sideroblastic anemia 3 skos:exactMatch OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory semapv:ManualMappingCuration MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 semapv:ManualMappingCuration MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 semapv:ManualMappingCuration MONDO:0014808 congenital secretory sodium diarrhea 8 skos:exactMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:ManualMappingCuration MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to semapv:ManualMappingCuration MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch OMIM:616873 immunodeficiency, common variable, 13 semapv:ManualMappingCuration MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:exactMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:ManualMappingCuration MONDO:0014813 hypomyelinating leukodystrophy 13 skos:exactMatch OMIM:616881 leukodystrophy, hypomyelinating, 13 semapv:ManualMappingCuration MONDO:0014814 advanced sleep phase syndrome 3 skos:exactMatch OMIM:616882 advanced sleep phase syndrome, familial, 3 semapv:ManualMappingCuration MONDO:0014815 intellectual disability, autosomal recessive 52 skos:exactMatch OMIM:616887 intellectual developmental disorder, autosomal recessive 52 semapv:ManualMappingCuration MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch OMIM:616890 split-foot malformation with mesoaxial polydactyly semapv:ManualMappingCuration MONDO:0014817 nephrotic syndrome, type 12 skos:exactMatch OMIM:616892 nephrotic syndrome, type 12 semapv:ManualMappingCuration MONDO:0014818 nephrotic syndrome, type 13 skos:exactMatch OMIM:616893 nephrotic syndrome, type 13 semapv:ManualMappingCuration MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:exactMatch OMIM:616894 robinow syndrome, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) skos:exactMatch OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) semapv:ManualMappingCuration MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type semapv:ManualMappingCuration MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:ManualMappingCuration MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch OMIM:616900 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 semapv:ManualMappingCuration MONDO:0014825 chromosome 11p13 deletion syndrome, distal skos:exactMatch OMIM:616902 chromosome 11p13 deletion syndrome, distal semapv:ManualMappingCuration MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:ManualMappingCuration MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch OMIM:616907 spastic paraplegia 76, autosomal recessive semapv:ManualMappingCuration MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:ManualMappingCuration MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:ManualMappingCuration MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch OMIM:616913 bleeding disorder, platelet-type, 20 semapv:ManualMappingCuration MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:ManualMappingCuration MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch OMIM:616917 neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy semapv:ManualMappingCuration MONDO:0014833 heart and brain malformation syndrome skos:exactMatch OMIM:616920 heart and brain malformation syndrome semapv:ManualMappingCuration MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:exactMatch OMIM:616922 striatal degeneration, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC skos:exactMatch OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc semapv:ManualMappingCuration MONDO:0014837 thrombocytopenia 6 skos:exactMatch OMIM:616937 thrombocytopenia 6 semapv:ManualMappingCuration MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch OMIM:616938 coffin-siris syndrome 5 semapv:ManualMappingCuration MONDO:0014839 chorea, childhood-onset, with psychomotor retardation skos:exactMatch OMIM:616939 chorea, childhood-onset, with psychomotor retardation semapv:ManualMappingCuration MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:exactMatch OMIM:616941 agammaglobulinemia 8a, autosomal dominant semapv:ManualMappingCuration MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:exactMatch OMIM:616943 trichothiodystrophy 6, nonphotosensitive semapv:ManualMappingCuration MONDO:0014842 intellectual disability, autosomal dominant 41 skos:exactMatch OMIM:616944 intellectual developmental disorder, autosomal dominant 41 semapv:ManualMappingCuration MONDO:0014843 premature ovarian failure 11 skos:exactMatch OMIM:616946 premature ovarian failure 11 semapv:ManualMappingCuration MONDO:0014844 premature ovarian failure 12 skos:exactMatch OMIM:616947 premature ovarian failure 12 semapv:ManualMappingCuration MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 skos:exactMatch OMIM:616948 spinocerebellar ataxia, autosomal recessive 22 semapv:ManualMappingCuration MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch OMIM:616949 spinocerebellar ataxia, autosomal recessive 23 semapv:ManualMappingCuration MONDO:0014847 spermatogenic failure 15 skos:exactMatch OMIM:616950 spermatogenic failure 15 semapv:ManualMappingCuration MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch OMIM:616954 you-hoover-fong syndrome semapv:ManualMappingCuration MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:ManualMappingCuration MONDO:0014850 retinitis pigmentosa and erythrocytic microcytosis skos:exactMatch OMIM:616959 retinitis pigmentosa and erythrocytic microcytosis semapv:ManualMappingCuration MONDO:0014851 hypercalcemia, infantile, 2 skos:exactMatch OMIM:616963 hypercalcemia, infantile, 2 semapv:ManualMappingCuration MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:exactMatch OMIM:616968 deafness, autosomal dominant 70 semapv:ManualMappingCuration MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:exactMatch OMIM:616969 deafness, autosomal dominant 66 semapv:ManualMappingCuration MONDO:0014855 intellectual disability, autosomal dominant 42 skos:exactMatch OMIM:616973 intellectual developmental disorder, autosomal dominant 42 semapv:ManualMappingCuration MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch OMIM:616974 combined oxidative phosphorylation deficiency 30 semapv:ManualMappingCuration MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch OMIM:616975 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart semapv:ManualMappingCuration MONDO:0014858 intellectual disability, autosomal dominant 43 skos:exactMatch OMIM:616977 intellectual developmental disorder, autosomal dominant 43 semapv:ManualMappingCuration MONDO:0014859 developmental and epileptic encephalopathy, 37 skos:exactMatch OMIM:616981 developmental and epileptic encephalopathy 37 semapv:ManualMappingCuration MONDO:0014860 polycystic liver disease 2 skos:exactMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:ManualMappingCuration MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 skos:exactMatch OMIM:617006 autoimmune disease, multisystem, infantile-onset, 2 semapv:ManualMappingCuration MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:exactMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:ManualMappingCuration MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:exactMatch OMIM:617011 macrocephaly, dysmorphic facies, and psychomotor retardation semapv:ManualMappingCuration MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch OMIM:617013 hypermanganesemia with dystonia 2 semapv:ManualMappingCuration MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:ManualMappingCuration MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch OMIM:617017 charcot-marie-tooth disease, axonal, type 2t semapv:ManualMappingCuration MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch OMIM:617018 spinocerebellar ataxia 43 semapv:ManualMappingCuration MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:exactMatch OMIM:617020 developmental and epileptic encephalopathy 38 semapv:ManualMappingCuration MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch OMIM:617021 hydrops, lactic acidosis, and sideroblastic anemia semapv:ManualMappingCuration MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:exactMatch OMIM:617022 lethal congenital contracture syndrome 10 semapv:ManualMappingCuration MONDO:0014871 retinitis pigmentosa 75 skos:exactMatch OMIM:617023 retinitis pigmentosa 75 semapv:ManualMappingCuration MONDO:0014872 congenital stationary night blindness 1H skos:exactMatch OMIM:617024 night blindness, congenital stationary, type 1h semapv:ManualMappingCuration MONDO:0014873 nevus comedonicus syndrome skos:exactMatch OMIM:617025 nevus comedonicus semapv:ManualMappingCuration MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:exactMatch OMIM:617026 pontocerebellar hypoplasia, type 2f semapv:ManualMappingCuration MONDO:0014875 hyperaldosteronism, familial, type IV skos:exactMatch OMIM:617027 hyperaldosteronism, familial, type 4 semapv:ManualMappingCuration MONDO:0014876 intellectual disability, autosomal recessive 54 skos:exactMatch OMIM:617028 intellectual developmental disorder, autosomal recessive 54 semapv:ManualMappingCuration MONDO:0014877 myopathy, distal, 5 skos:exactMatch OMIM:617030 myopathy, distal, 5 semapv:ManualMappingCuration MONDO:0014878 patent ductus arteriosus 2 skos:exactMatch OMIM:617035 patent ductus arteriosus 2 semapv:ManualMappingCuration MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:exactMatch OMIM:617041 duane retraction syndrome 3 with or without deafness semapv:ManualMappingCuration MONDO:0014881 transketolase deficiency skos:exactMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:ManualMappingCuration MONDO:0014882 hereditary spastic paraplegia 77 skos:exactMatch OMIM:617046 spastic paraplegia 77, autosomal recessive semapv:ManualMappingCuration MONDO:0014883 hypertrophic cardiomyopathy 26 skos:exactMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:ManualMappingCuration MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch OMIM:617049 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:exactMatch OMIM:617050 hermansky-pudlak syndrome 10 semapv:ManualMappingCuration MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae semapv:ManualMappingCuration MONDO:0014887 bone marrow failure syndrome 3 skos:exactMatch OMIM:617052 bone marrow failure syndrome 3 semapv:ManualMappingCuration MONDO:0014888 MIRAGE syndrome skos:exactMatch OMIM:617053 MIRAGE syndrome semapv:ManualMappingCuration MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch OMIM:617054 striatonigral degeneration, childhood-onset semapv:ManualMappingCuration MONDO:0014890 PERCHING syndrome skos:exactMatch OMIM:617055 PERCHING syndrome semapv:ManualMappingCuration MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 skos:exactMatch OMIM:617056 tubulointerstitial kidney disease, autosomal dominant 5 semapv:ManualMappingCuration MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly semapv:ManualMappingCuration MONDO:0014893 Okur-Chung neurodevelopmental syndrome skos:exactMatch OMIM:617062 okur-chung neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0014894 Meier-Gorlin syndrome 7 skos:exactMatch OMIM:617063 meier-gorlin syndrome 7 semapv:ManualMappingCuration MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:exactMatch OMIM:617065 developmental and epileptic encephalopathy 40 semapv:ManualMappingCuration MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch OMIM:617066 muscular dystrophy, congenital, davignon-chauveau type semapv:ManualMappingCuration MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:exactMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:ManualMappingCuration MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 semapv:ManualMappingCuration MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch OMIM:617072 myopathy, autosomal recessive, with rigid spine and distal joint contractures semapv:ManualMappingCuration MONDO:0014901 tooth agenesis, selective, 8 skos:exactMatch OMIM:617073 tooth agenesis, selective, 8 semapv:ManualMappingCuration MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch OMIM:617075 nasopharyngeal carcinoma, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0014903 seizures, benign familial infantile, 5 skos:exactMatch OMIM:617080 seizures, benign familial infantile, 5 semapv:ManualMappingCuration MONDO:0014904 congenital disorder of glycosylation, type IAA skos:exactMatch OMIM:617082 congenital disorder of glycosylation, type iaa semapv:ManualMappingCuration MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch OMIM:617086 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:ManualMappingCuration MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:exactMatch OMIM:617087 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b semapv:ManualMappingCuration MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch OMIM:617088 short-rib thoracic dysplasia 15 with polydactyly semapv:ManualMappingCuration MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:exactMatch OMIM:617090 microcephaly 17, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0014909 primary ciliary dyskinesia 34 skos:exactMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:ManualMappingCuration MONDO:0014910 primary ciliary dyskinesia 35 skos:exactMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:ManualMappingCuration MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch OMIM:617093 growth retardation, impaired intellectual development, hypotonia, and hepatopathy semapv:ManualMappingCuration MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0014914 Dias-Logan syndrome skos:exactMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:ManualMappingCuration MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly semapv:ManualMappingCuration MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:exactMatch OMIM:617105 developmental and epileptic encephalopathy 41 semapv:ManualMappingCuration MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch OMIM:617106 developmental and epileptic encephalopathy 42 semapv:ManualMappingCuration MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:ManualMappingCuration MONDO:0014919 sessile serrated polyposis cancer syndrome skos:exactMatch OMIM:617108 sessile serrated polyposis cancer syndrome semapv:ManualMappingCuration MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch OMIM:617111 macular dystrophy, patterned, 3 semapv:ManualMappingCuration MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:exactMatch OMIM:617113 developmental and epileptic encephalopathy 43 semapv:ManualMappingCuration MONDO:0014922 myofibrillar myopathy 7 skos:exactMatch OMIM:617114 myopathy, myofibrillar, 7 semapv:ManualMappingCuration MONDO:0014923 peeling skin syndrome 5 skos:exactMatch OMIM:617115 peeling skin syndrome 5 semapv:ManualMappingCuration MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch OMIM:617116 epilepsy, familial focal, with variable foci 2 semapv:ManualMappingCuration MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch OMIM:617118 epilepsy, familial focal, with variable foci 3 semapv:ManualMappingCuration MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch OMIM:617119 bardet-biedl syndrome 22 semapv:ManualMappingCuration MONDO:0014927 Joubert syndrome 27 skos:exactMatch OMIM:617120 joubert syndrome 27 semapv:ManualMappingCuration MONDO:0014928 Joubert syndrome 28 skos:exactMatch OMIM:617121 joubert syndrome 28 semapv:ManualMappingCuration MONDO:0014929 retinitis pigmentosa 76 skos:exactMatch OMIM:617123 retinitis pigmentosa 76 semapv:ManualMappingCuration MONDO:0014930 intellectual disability, autosomal recessive 56 skos:exactMatch OMIM:617125 intellectual developmental disorder, autosomal recessive 56 semapv:ManualMappingCuration MONDO:0014931 Alazami-Yuan syndrome skos:exactMatch OMIM:617126 alazami-yuan syndrome semapv:ManualMappingCuration MONDO:0014932 orofaciodigital syndrome XV skos:exactMatch OMIM:617127 orofaciodigital syndrome 15 semapv:ManualMappingCuration MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:exactMatch OMIM:617132 developmental and epileptic encephalopathy 44 semapv:ManualMappingCuration MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 skos:exactMatch OMIM:617133 spinocerebellar ataxia, autosomal recessive 24 semapv:ManualMappingCuration MONDO:0014935 frontometaphyseal dysplasia 2 skos:exactMatch OMIM:617137 frontometaphyseal dysplasia 2 semapv:ManualMappingCuration MONDO:0014936 ZTTK syndrome skos:exactMatch OMIM:617140 zttk syndrome semapv:ManualMappingCuration MONDO:0014937 aniridia 2 skos:exactMatch OMIM:617141 aniridia 2 semapv:ManualMappingCuration MONDO:0014938 aniridia 3 skos:exactMatch OMIM:617142 aniridia 3 semapv:ManualMappingCuration MONDO:0014939 congenital myasthenic syndrome 20 skos:exactMatch OMIM:617143 myasthenic syndrome, congenital, 20, presynaptic semapv:ManualMappingCuration MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch OMIM:617145 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset semapv:ManualMappingCuration MONDO:0014941 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch semapv:ManualMappingCuration MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:exactMatch OMIM:617153 developmental and epileptic encephalopathy 45 semapv:ManualMappingCuration MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch OMIM:617156 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) semapv:ManualMappingCuration MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures semapv:ManualMappingCuration MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch OMIM:617159 sifrim-hitz-weiss syndrome semapv:ManualMappingCuration MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch OMIM:617162 developmental and epileptic encephalopathy 46 semapv:ManualMappingCuration MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:exactMatch OMIM:617164 short stature-micrognathia syndrome semapv:ManualMappingCuration MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:exactMatch OMIM:617166 developmental and epileptic encephalopathy 47 semapv:ManualMappingCuration MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:exactMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:ManualMappingCuration MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch OMIM:617169 intellectual developmental disorder, autosomal recessive 74 semapv:ManualMappingCuration MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:ManualMappingCuration MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch OMIM:617173 lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia semapv:ManualMappingCuration MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:exactMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:ManualMappingCuration MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch OMIM:617175 retinal dystrophy with or without extraocular anomalies semapv:ManualMappingCuration MONDO:0014956 Chitayat syndrome skos:exactMatch OMIM:617180 chitayat syndrome semapv:ManualMappingCuration MONDO:0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia skos:exactMatch OMIM:617182 lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia semapv:ManualMappingCuration MONDO:0014958 Harel-Yoon syndrome skos:exactMatch OMIM:617183 harel-yoon syndrome semapv:ManualMappingCuration MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant skos:exactMatch OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant semapv:ManualMappingCuration MONDO:0014961 spermatogenic failure 16 skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:ManualMappingCuration MONDO:0014962 intellectual disability, autosomal recessive 57 skos:exactMatch OMIM:617188 intellectual developmental disorder, autosomal recessive 57 semapv:ManualMappingCuration MONDO:0014963 Shashi-Pena syndrome skos:exactMatch OMIM:617190 shashi-pena syndrome semapv:ManualMappingCuration MONDO:0014965 lethal congenital contracture syndrome 11 skos:exactMatch OMIM:617194 lethal congenital contracture syndrome 11 semapv:ManualMappingCuration MONDO:0014966 periventricular nodular heterotopia 7 skos:exactMatch OMIM:617201 periventricular nodular heterotopia 7 semapv:ManualMappingCuration MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:exactMatch OMIM:617205 heterotaxy, visceral, 8, autosomal semapv:ManualMappingCuration MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:exactMatch OMIM:617207 encephalopathy, progressive, with amyotrophy and optic atrophy semapv:ManualMappingCuration MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch OMIM:617213 sedoheptulokinase deficiency semapv:ManualMappingCuration MONDO:0014970 spermatogenic failure 17 skos:exactMatch OMIM:617214 spermatogenic failure 17 semapv:ManualMappingCuration MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch OMIM:617217 amelogenesis imperfecta, hypomaturation type, iia6 semapv:ManualMappingCuration MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal skos:exactMatch OMIM:617219 chromosome 19q13.11 deletion syndrome, proximal semapv:ManualMappingCuration MONDO:0014973 sudden cardiac failure, infantile skos:exactMatch OMIM:617222 sudden cardiac failure, infantile semapv:ManualMappingCuration MONDO:0014974 sudden cardiac failure, alcohol-induced skos:exactMatch OMIM:617223 sudden cardiac failure, alcohol-induced semapv:ManualMappingCuration MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch OMIM:617225 spastic paraplegia 78, autosomal recessive semapv:ManualMappingCuration MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch OMIM:617228 combined oxidative phosphorylation deficiency 31 semapv:ManualMappingCuration MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 semapv:ManualMappingCuration MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:ManualMappingCuration MONDO:0014979 myoclonus, intractable, neonatal skos:exactMatch OMIM:617235 myoclonus, intractable, neonatal semapv:ManualMappingCuration MONDO:0014981 immunodeficiency 49 skos:exactMatch OMIM:617237 immunodeficiency 49, severe combined semapv:ManualMappingCuration MONDO:0014982 myopia 25, autosomal dominant skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:ManualMappingCuration MONDO:0014983 congenital myasthenic syndrome 21 skos:exactMatch OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic semapv:ManualMappingCuration MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:exactMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:ManualMappingCuration MONDO:0014985 Fanconi anemia complementation group V skos:exactMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:ManualMappingCuration MONDO:0014986 Fanconi anemia complementation group R skos:exactMatch OMIM:617244 fanconi anemia, complementation group r semapv:ManualMappingCuration MONDO:0014987 Fanconi anemia complementation group U skos:exactMatch OMIM:617247 fanconi anemia, complementation group u semapv:ManualMappingCuration MONDO:0014989 uncombable hair syndrome 2 skos:exactMatch OMIM:617251 uncombable hair syndrome 2 semapv:ManualMappingCuration MONDO:0014990 uncombable hair syndrome 3 skos:exactMatch OMIM:617252 uncombable hair syndrome 3 semapv:ManualMappingCuration MONDO:0014991 Seckel syndrome 10 skos:exactMatch OMIM:617253 seckel syndrome 10 semapv:ManualMappingCuration MONDO:0014992 lissencephaly 8 skos:exactMatch OMIM:617255 lissencephaly 8 semapv:ManualMappingCuration MONDO:0014993 myofibrillar myopathy 8 skos:exactMatch OMIM:617258 myopathy, myofibrillar, 8 semapv:ManualMappingCuration MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies skos:exactMatch OMIM:617260 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies semapv:ManualMappingCuration MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language skos:exactMatch OMIM:617268 neurodevelopmental disorder with hypotonia, seizures, and absent language semapv:ManualMappingCuration MONDO:0014996 intellectual disability, autosomal recessive 58 skos:exactMatch OMIM:617270 intellectual developmental disorder, autosomal recessive 58 semapv:ManualMappingCuration MONDO:0014997 nephronophthisis 20 skos:exactMatch OMIM:617271 nephronophthisis 20 semapv:ManualMappingCuration MONDO:0014998 glaucoma 3, primary congenital, E skos:exactMatch OMIM:617272 glaucoma 3, primary congenital, e semapv:ManualMappingCuration MONDO:0014999 tooth agenesis, selective, 9 skos:exactMatch OMIM:617275 tooth agenesis, selective, 9 semapv:ManualMappingCuration MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:exactMatch OMIM:617276 developmental and epileptic encephalopathy 48 semapv:ManualMappingCuration MONDO:0015001 atrial fibrillation, familial, 18 skos:exactMatch OMIM:617280 atrial fibrillation, familial, 18 semapv:ManualMappingCuration MONDO:0015002 developmental and epileptic encephalopathy, 49 skos:exactMatch OMIM:617281 developmental and epileptic encephalopathy 49 semapv:ManualMappingCuration MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch OMIM:617282 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities semapv:ManualMappingCuration MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch OMIM:617284 dystonia 28, childhood-onset semapv:ManualMappingCuration MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:exactMatch OMIM:617290 epilepsy, early-onset, 1, vitamin b6-dependent semapv:ManualMappingCuration MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:exactMatch OMIM:617294 epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy semapv:ManualMappingCuration MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:exactMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:ManualMappingCuration MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch OMIM:617297 amelogenesis imperfecta, type 1j semapv:ManualMappingCuration MONDO:0015009 lymphatic malformation 7 skos:exactMatch OMIM:617300 lymphatic malformation 7 semapv:ManualMappingCuration MONDO:0015010 atypical glycine encephalopathy skos:exactMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:ManualMappingCuration MONDO:0015011 optic atrophy 11 skos:exactMatch OMIM:617302 optic atrophy 11 semapv:ManualMappingCuration MONDO:0015012 mucopolysaccharidosis-plus syndrome skos:exactMatch OMIM:617303 mucopolysaccharidosis-plus syndrome semapv:ManualMappingCuration MONDO:0015013 retinitis pigmentosa 77 skos:exactMatch OMIM:617304 retinitis pigmentosa 77 semapv:ManualMappingCuration MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch OMIM:617306 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness semapv:ManualMappingCuration MONDO:0015015 congenital bile acid synthesis defect 6 skos:exactMatch OMIM:617308 bile acid synthesis defect, congenital, 6 semapv:ManualMappingCuration MONDO:0015016 anterior segment dysgenesis 6 skos:exactMatch OMIM:617315 anterior segment dysgenesis 6 semapv:ManualMappingCuration MONDO:0015017 anterior segment dysgenesis 8 skos:exactMatch OMIM:617319 anterior segment dysgenesis 8 semapv:ManualMappingCuration MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 skos:exactMatch OMIM:617320 ichthyosis, congenital, autosomal recessive 12 semapv:ManualMappingCuration MONDO:0015019 Yao syndrome skos:exactMatch OMIM:617321 yao syndrome semapv:ManualMappingCuration MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch OMIM:617323 intellectual developmental disorder, autosomal recessive 59 semapv:ManualMappingCuration MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch OMIM:617330 hypotonia, ataxia, and delayed development syndrome semapv:ManualMappingCuration MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis semapv:ManualMappingCuration MONDO:0015023 MYPN-related myopathy skos:exactMatch OMIM:617336 congenital myopathy 24 semapv:ManualMappingCuration MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch OMIM:617337 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type semapv:ManualMappingCuration MONDO:0015025 developmental and epileptic encephalopathy, 51 skos:exactMatch OMIM:617339 developmental and epileptic encephalopathy 51 semapv:ManualMappingCuration MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:ManualMappingCuration MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch OMIM:240200 hypoadrenocorticism, familial semapv:ManualMappingCuration MONDO:0015167 amniotic band syndrome skos:exactMatch OMIM:217100 constricting bands, congenital semapv:ManualMappingCuration MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:ManualMappingCuration MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch OMIM:617936 butyrylcholinesterase deficiency semapv:ManualMappingCuration MONDO:0015278 familial pancreatic carcinoma skos:exactMatch OMIM:260350 pancreatic cancer semapv:ManualMappingCuration MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:ManualMappingCuration MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:exactMatch OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 semapv:ManualMappingCuration MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch OMIM:301030 van esch-o'driscoll syndrome semapv:ManualMappingCuration MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:ManualMappingCuration MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:ManualMappingCuration MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:ManualMappingCuration MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch OMIM:306980 hirschsprung disease with type d brachydactyly semapv:ManualMappingCuration MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch OMIM:618625 rothmund-thomson syndrome, type 1 semapv:ManualMappingCuration MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch OMIM:268400 rothmund-thomson syndrome, type 2 semapv:ManualMappingCuration MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch OMIM:145700 hypertrichosis lanuginosa congenita semapv:ManualMappingCuration MONDO:0016419 hereditary breast carcinoma skos:exactMatch OMIM:114480 breast cancer semapv:ManualMappingCuration MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:ManualMappingCuration MONDO:0016581 conotruncal heart malformations skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:ManualMappingCuration MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch OMIM:187370 arthrogryposis, distal, type 10 semapv:ManualMappingCuration MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:ManualMappingCuration MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:ManualMappingCuration MONDO:0017380 juvenile polyposis syndrome skos:exactMatch OMIM:174900 juvenile polyposis syndrome semapv:ManualMappingCuration MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:exactMatch OMIM:615710 mitchell-riley syndrome semapv:ManualMappingCuration MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome skos:exactMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:ManualMappingCuration MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:ManualMappingCuration MONDO:0017919 exstrophy-epispadias complex skos:exactMatch OMIM:258040 oeis complex semapv:ManualMappingCuration MONDO:0017991 Takayasu arteritis skos:exactMatch OMIM:207600 takayasu arteritis semapv:ManualMappingCuration MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:ManualMappingCuration MONDO:0018023 hemoglobin M disease skos:exactMatch OMIM:617971 methemoglobinemia, beta type semapv:ManualMappingCuration MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch OMIM:618049 parkinsonism-dystonia 2, infantile-onset semapv:ManualMappingCuration MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:ManualMappingCuration MONDO:0018160 hereditary retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:ManualMappingCuration MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch OMIM:219200 cutis laxa, autosomal recessive, type 2a semapv:ManualMappingCuration MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:ManualMappingCuration MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch OMIM:113750 albinism, oculocutaneous, type 6 semapv:ManualMappingCuration MONDO:0018274 GM3 synthase deficiency skos:exactMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:ManualMappingCuration MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch OMIM:604856 langerhans cell histiocytosis semapv:ManualMappingCuration MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:exactMatch OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis semapv:ManualMappingCuration MONDO:0018382 epiphysiolysis of the hip skos:exactMatch OMIM:182260 slipped femoral capital epiphyses semapv:ManualMappingCuration MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:exactMatch OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor semapv:ManualMappingCuration MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch OMIM:617347 hyperlipoproteinemia, type 3 semapv:ManualMappingCuration MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:ManualMappingCuration MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:ManualMappingCuration MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:ManualMappingCuration MONDO:0018663 regressive spondylometaphyseal dysplasia skos:exactMatch OMIM:618019 rhizomelic skeletal dysplasia with or without pelger-huet anomaly semapv:ManualMappingCuration MONDO:0018690 Holmes-Adie syndrome skos:exactMatch OMIM:103100 adie pupil semapv:ManualMappingCuration MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:exactMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:ManualMappingCuration MONDO:0018767 severe primary trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:ManualMappingCuration MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:ManualMappingCuration MONDO:0018805 bile duct cyst skos:exactMatch OMIM:603003 bile duct cysts semapv:ManualMappingCuration MONDO:0018815 aneurysmal bone cyst skos:exactMatch OMIM:606179 aneurysmal bone cysts semapv:ManualMappingCuration MONDO:0018816 isolated neonatal sclerosing cholangitis skos:exactMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:ManualMappingCuration MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:ManualMappingCuration MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch OMIM:617397 pseudo-torch syndrome 2 semapv:ManualMappingCuration MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch OMIM:604093 keratosis pilaris atrophicans semapv:ManualMappingCuration MONDO:0018874 acute myeloid leukemia skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:ManualMappingCuration MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:ManualMappingCuration MONDO:0018881 myelodysplastic syndrome skos:exactMatch OMIM:614286 myelodysplastic syndrome semapv:ManualMappingCuration MONDO:0018919 McCune-Albright syndrome skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:ManualMappingCuration MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:ManualMappingCuration MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch OMIM:300842 mcleod syndrome semapv:ManualMappingCuration MONDO:0018959 potassium-aggravated myotonia skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:ManualMappingCuration MONDO:0018975 neurofibromatosis type 1 skos:exactMatch OMIM:162200 neurofibromatosis, type 1 semapv:ManualMappingCuration MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 semapv:ManualMappingCuration MONDO:0019023 cutaneous mastocytosis skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:ManualMappingCuration MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:ManualMappingCuration MONDO:0019107 Rh deficiency syndrome skos:exactMatch OMIM:268150 rh-null, regulator type semapv:ManualMappingCuration MONDO:0019148 Wolman disease skos:exactMatch OMIM:620151 wolman disease semapv:ManualMappingCuration MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 cholesteryl ester storage disease semapv:ManualMappingCuration MONDO:0019154 androgen insensitivity syndrome skos:exactMatch OMIM:300068 androgen insensitivity syndrome semapv:ManualMappingCuration MONDO:0019182 inherited obesity skos:exactMatch OMIM:601665 obesity semapv:ManualMappingCuration MONDO:0019200 retinitis pigmentosa skos:exactMatch OMIM:268000 retinitis pigmentosa semapv:ManualMappingCuration MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:ManualMappingCuration MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 SOTOS syndrome semapv:ManualMappingCuration MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch OMIM:618150 saul-wilson syndrome semapv:ManualMappingCuration MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch OMIM:259750 osteoporosis, juvenile semapv:ManualMappingCuration MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:ManualMappingCuration MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 semapv:ManualMappingCuration MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:ManualMappingCuration MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:ManualMappingCuration MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch OMIM:216400 Cockayne syndrome a semapv:ManualMappingCuration MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch OMIM:133540 Cockayne syndrome B semapv:ManualMappingCuration MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch OMIM:607197 deafness, autosomal recessive semapv:ManualMappingCuration MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes semapv:ManualMappingCuration MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:ManualMappingCuration MONDO:0019947 rippling muscle disease 2 skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:ManualMappingCuration MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch OMIM:205700 anemia, autoimmune hemolytic semapv:ManualMappingCuration MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:exactMatch OMIM:619199 6-phosphogluconate dehydrogenase deficiency semapv:ManualMappingCuration MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 semapv:ManualMappingCuration MONDO:0020485 King-Denborough syndrome skos:exactMatch OMIM:619542 king-denborough syndrome semapv:ManualMappingCuration MONDO:0020495 PEHO-like syndrome skos:exactMatch OMIM:617507 peho-like syndrome semapv:ManualMappingCuration MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter 1 semapv:ManualMappingCuration MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, type 1 semapv:ManualMappingCuration MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch OMIM:302960 chondrodysplasia punctata 2, X-linked dominant semapv:ManualMappingCuration MONDO:0020607 Liddle syndrome 1 skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:ManualMappingCuration MONDO:0020608 obsolete blood group--ahonen skos:exactMatch OMIM:110350 blood group--ahonen semapv:ManualMappingCuration MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:ManualMappingCuration MONDO:0020610 obsolete blood group, diego system skos:exactMatch OMIM:110500 blood group, diego system semapv:ManualMappingCuration MONDO:0020611 obsolete blood group--kell system skos:exactMatch OMIM:110900 blood group--kell system semapv:ManualMappingCuration MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:ManualMappingCuration MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:ManualMappingCuration MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:ManualMappingCuration MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:ManualMappingCuration MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, MN semapv:ManualMappingCuration MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:ManualMappingCuration MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:ManualMappingCuration MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:ManualMappingCuration MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, Ss semapv:ManualMappingCuration MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:ManualMappingCuration MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:ManualMappingCuration MONDO:0020623 obsolete blood group--ul system skos:exactMatch OMIM:112000 blood group--ul system semapv:ManualMappingCuration MONDO:0020624 obsolete blood group--waldner type skos:exactMatch OMIM:112010 blood group--waldner type semapv:ManualMappingCuration MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:ManualMappingCuration MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:ManualMappingCuration MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:ManualMappingCuration MONDO:0020630 developmental and epileptic encephalopathy 91 skos:exactMatch OMIM:617711 developmental and epileptic encephalopathy 91 semapv:ManualMappingCuration MONDO:0020631 developmental and epileptic encephalopathy 92 skos:exactMatch OMIM:617829 developmental and epileptic encephalopathy 92 semapv:ManualMappingCuration MONDO:0020632 developmental and epileptic encephalopathy 93 skos:exactMatch OMIM:618012 developmental and epileptic encephalopathy 93 semapv:ManualMappingCuration MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome skos:exactMatch OMIM:618142 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome semapv:ManualMappingCuration MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:ManualMappingCuration MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:ManualMappingCuration MONDO:0020671 obsolete susceptibility to ischemic stroke skos:exactMatch OMIM:601367 stroke, ischemic semapv:ManualMappingCuration MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:ManualMappingCuration MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:exactMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:ManualMappingCuration MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:exactMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:ManualMappingCuration MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:ManualMappingCuration MONDO:0020705 neural tube defects, susceptibility to skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:ManualMappingCuration MONDO:0020712 46,XY sex reversal 1 skos:exactMatch OMIM:400044 46,xy sex reversal 1 semapv:ManualMappingCuration MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:ManualMappingCuration MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy skos:exactMatch OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy semapv:ManualMappingCuration MONDO:0020715 multiple system atrophy 1, susceptibility to skos:exactMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:ManualMappingCuration MONDO:0020716 thyroid dyshormonogenesis 1 skos:exactMatch OMIM:274400 thyroid dyshormonogenesis 1 semapv:ManualMappingCuration MONDO:0020717 autosomal dominant wooly hair skos:exactMatch OMIM:194300 woolly hair, autosomal dominant semapv:ManualMappingCuration MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:ManualMappingCuration MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch OMIM:300751 anemia, sideroblastic, 1 semapv:ManualMappingCuration MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate, 1 semapv:ManualMappingCuration MONDO:0020723 vitamin D-dependent rickets, type 1A skos:exactMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a semapv:ManualMappingCuration MONDO:0020724 cerebral cavernous malformation 1 skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:ManualMappingCuration MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:exactMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:ManualMappingCuration MONDO:0020728 hypouricemia, renal 1 skos:exactMatch OMIM:220150 hypouricemia, renal, 1 semapv:ManualMappingCuration MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:exactMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:ManualMappingCuration MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch OMIM:115430 carpal tunnel syndrome 1 semapv:ManualMappingCuration MONDO:0020733 proximal symphalangism 1A skos:exactMatch OMIM:185800 symphalangism, proximal, 1a semapv:ManualMappingCuration MONDO:0020734 obsolete erythrocyte AMP deaminase deficiency skos:exactMatch OMIM:612874 erythrocyte amp deaminase deficiency semapv:ManualMappingCuration MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:ManualMappingCuration MONDO:0020736 uncombable hair syndrome 1 skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:ManualMappingCuration MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:exactMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:ManualMappingCuration MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:exactMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:ManualMappingCuration MONDO:0020739 hypercalcemia, infantile, 1 skos:exactMatch OMIM:143880 hypercalcemia, infantile, 1 semapv:ManualMappingCuration MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:ManualMappingCuration MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:exactMatch OMIM:266100 epilepsy, early-onset, 4, vitamin b6-dependent semapv:ManualMappingCuration MONDO:0020742 obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome skos:exactMatch OMIM:212540 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome semapv:ManualMappingCuration MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:exactMatch OMIM:115000 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome semapv:ManualMappingCuration MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b semapv:ManualMappingCuration MONDO:0020747 sitosterolemia 1 skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:ManualMappingCuration MONDO:0020748 sitosterolemia 2 skos:exactMatch OMIM:618666 sitosterolemia 2 semapv:ManualMappingCuration MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:ManualMappingCuration MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 semapv:ManualMappingCuration MONDO:0020751 orthostatic hypotension 2 skos:exactMatch OMIM:618182 orthostatic hypotension 2 semapv:ManualMappingCuration MONDO:0020754 visceral myopathy 1 skos:exactMatch OMIM:155310 visceral myopathy 1 semapv:ManualMappingCuration MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch OMIM:141500 migraine, familial hemiplegic, 1 semapv:ManualMappingCuration MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:exactMatch OMIM:618646 diencephalic-mesencephalic junction dysplasia syndrome 2 semapv:ManualMappingCuration MONDO:0020763 Menke-Hennekam syndrome 1 skos:exactMatch OMIM:618332 menke-hennekam syndrome 1 semapv:ManualMappingCuration MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:exactMatch OMIM:618184 neuropathy, congenital hypomyelinating, 2 semapv:ManualMappingCuration MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:exactMatch OMIM:618186 neuropathy, congenital hypomyelinating, 3 semapv:ManualMappingCuration MONDO:0020769 Menke-Hennekam syndrome 2 skos:exactMatch OMIM:618333 menke-hennekam syndrome 2 semapv:ManualMappingCuration MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:ManualMappingCuration MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:exactMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:ManualMappingCuration MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:exactMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:ManualMappingCuration MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:exactMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:ManualMappingCuration MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:exactMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:ManualMappingCuration MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:ManualMappingCuration MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:ManualMappingCuration MONDO:0020784 obsolete short sleep, familial natural, 1 skos:exactMatch OMIM:612975 short sleep, familial natural, 1 semapv:ManualMappingCuration MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:exactMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:ManualMappingCuration MONDO:0020786 obsolete short sleep, familial natural, 2 skos:exactMatch OMIM:618591 short sleep, familial natural, 2 semapv:ManualMappingCuration MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:exactMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:ManualMappingCuration MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 skos:exactMatch OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 semapv:ManualMappingCuration MONDO:0020789 pseudo-TORCH syndrome 1 skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:ManualMappingCuration MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:exactMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:ManualMappingCuration MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:ManualMappingCuration MONDO:0020792 dwarfism with tall vertebrae skos:exactMatch OMIM:126950 dwarfism with tall vertebrae semapv:ManualMappingCuration MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration MONDO:0020795 Silver-Russell syndrome 5 skos:exactMatch OMIM:618908 silver-russell syndrome 5 semapv:ManualMappingCuration MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:ManualMappingCuration MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:exactMatch OMIM:618883 hypoparathyroidism, familial isolated, 2 semapv:ManualMappingCuration MONDO:0020820 distal arthrogryposis type 2B1 skos:exactMatch OMIM:601680 arthrogryposis, distal, type 2b1 semapv:ManualMappingCuration MONDO:0020835 methemoglobinemia, alpha type skos:exactMatch OMIM:617973 methemoglobinemia, alpha type semapv:ManualMappingCuration MONDO:0020837 oocyte maturation defect 5 skos:exactMatch OMIM:617996 oocyte/zygote/embryo maturation arrest 5 semapv:ManualMappingCuration MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch OMIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia semapv:ManualMappingCuration MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:exactMatch OMIM:618056 neurodevelopmental disorder with cerebellar atrophy and with or without seizures semapv:ManualMappingCuration MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 skos:exactMatch OMIM:618098 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 semapv:ManualMappingCuration MONDO:0020846 intellectual disability, autosomal recessive 64 skos:exactMatch OMIM:618103 intellectual developmental disorder, autosomal recessive 64 semapv:ManualMappingCuration MONDO:0020847 intellectual disability, autosomal dominant 58 skos:exactMatch OMIM:618106 intellectual developmental disorder, autosomal dominant 58 semapv:ManualMappingCuration MONDO:0020848 osteopetrosis, autosomal dominant 3 skos:exactMatch OMIM:618107 osteopetrosis, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0020849 immunodeficiency 57 skos:exactMatch OMIM:618108 immunodeficiency 57 with autoinflammation semapv:ManualMappingCuration MONDO:0020850 intellectual disability, autosomal recessive 65 skos:exactMatch OMIM:618109 intellectual developmental disorder, autosomal recessive 65 semapv:ManualMappingCuration MONDO:0020851 spermatogenic failure 30 skos:exactMatch OMIM:618110 spermatogenic failure 30 semapv:ManualMappingCuration MONDO:0020852 spermatogenic failure 31 skos:exactMatch OMIM:618112 spermatogenic failure 31 semapv:ManualMappingCuration MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization skos:exactMatch OMIM:618113 encephalitis/encephalopathy, mild, with reversible myelin vacuolization semapv:ManualMappingCuration MONDO:0020854 Liddle syndrome 2 skos:exactMatch OMIM:618114 liddle syndrome 2 semapv:ManualMappingCuration MONDO:0020855 spermatogenic failure 32 skos:exactMatch OMIM:618115 spermatogenic failure 32 semapv:ManualMappingCuration MONDO:0020856 bone marrow failure syndrome 4 skos:exactMatch OMIM:618116 bone marrow failure syndrome 4 semapv:ManualMappingCuration MONDO:0020857 ovarian dysgenesis 7 skos:exactMatch OMIM:618117 ovarian dysgenesis 7 semapv:ManualMappingCuration MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:exactMatch OMIM:618120 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 5 semapv:ManualMappingCuration MONDO:0021001 hemochromatosis type 1 skos:exactMatch OMIM:235200 hemochromatosis, type 1 semapv:ManualMappingCuration MONDO:0021003 polydactyly skos:exactMatch OMIM:603596 polydactyly semapv:ManualMappingCuration MONDO:0021011 hereditary progressive chorea without dementia skos:exactMatch OMIM:118700 chorea, benign hereditary semapv:ManualMappingCuration MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:exactMatch OMIM:608207 kala-azar, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:ManualMappingCuration MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch OMIM:300500 albinism, ocular, type 1 semapv:ManualMappingCuration MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch OMIM:218800 crigler-najjar syndrome, type 1 semapv:ManualMappingCuration MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant semapv:ManualMappingCuration MONDO:0021024 malaria, susceptibility to skos:exactMatch OMIM:611162 malaria, susceptibility to semapv:ManualMappingCuration MONDO:0021025 cirrhosis, familial, with antigenemia skos:exactMatch OMIM:118900 cirrhosis, familial semapv:ManualMappingCuration MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:exactMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:ManualMappingCuration MONDO:0021056 familial adenomatous polyposis 1 skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:ManualMappingCuration MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:ManualMappingCuration MONDO:0021093 cranioectodermal dysplasia 1 skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:ManualMappingCuration MONDO:0021105 NAFLD1 skos:exactMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch OMIM:114900 carcinoid tumors, intestinal semapv:ManualMappingCuration MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch OMIM:617607 amelogenesis imperfecta, type 3b semapv:ManualMappingCuration MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:ManualMappingCuration MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:ManualMappingCuration MONDO:0021573 oocyte maturation defect 2 skos:exactMatch OMIM:616780 oocyte/zygote/embryo maturation arrest 2 semapv:ManualMappingCuration MONDO:0021574 oocyte maturation defect 3 skos:exactMatch OMIM:617712 oocyte/zygote/embryo maturation arrest 3 semapv:ManualMappingCuration MONDO:0021575 oocyte maturation defect 4 skos:exactMatch OMIM:617743 oocyte/zygote/embryo maturation arrest 4 semapv:ManualMappingCuration MONDO:0021582 lentigo skos:exactMatch OMIM:150900 lentigines semapv:ManualMappingCuration MONDO:0022109 obsolete catatrichy skos:exactMatch OMIM:116850 catatrichy semapv:ManualMappingCuration MONDO:0022113 central centrifugal cicatricial alopecia skos:exactMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:ManualMappingCuration MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:exactMatch OMIM:234030 hair defect with photosensitivity and impaired intellectual development semapv:ManualMappingCuration MONDO:0023655 immunodeficiency 14b, autosomal recessive skos:exactMatch OMIM:619281 immunodeficiency 14b, autosomal recessive semapv:ManualMappingCuration MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:exactMatch OMIM:619320 intellectual developmental disorder, autosomal dominant 65 semapv:ManualMappingCuration MONDO:0023659 developmental and epileptic encephalopathy 96 skos:exactMatch OMIM:619340 developmental and epileptic encephalopathy 96 semapv:ManualMappingCuration MONDO:0023660 angioedema, hereditary, 6 skos:exactMatch OMIM:619363 angioedema, hereditary, 6 semapv:ManualMappingCuration MONDO:0023662 lymphatic malformation 10 skos:exactMatch OMIM:619369 lymphatic malformation 10 semapv:ManualMappingCuration MONDO:0023664 spermatogenic failure 54 skos:exactMatch OMIM:619379 spermatogenic failure 54 semapv:ManualMappingCuration MONDO:0023670 Bardet-Biedl syndrome 20 skos:exactMatch OMIM:619471 bardet-biedl syndrome 20 semapv:ManualMappingCuration MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch OMIM:619473 oculopharyngodistal myopathy 3 semapv:ManualMappingCuration MONDO:0023691 maple syrup urine disease type 1A skos:exactMatch OMIM:248600 maple syrup urine disease, type 1a semapv:ManualMappingCuration MONDO:0023692 maple syrup urine disease type 1B skos:exactMatch OMIM:620698 maple syrup urine disease, type 1b semapv:ManualMappingCuration MONDO:0023693 maple syrup urine disease type 2 skos:exactMatch OMIM:620699 maple syrup urine disease, type 2 semapv:ManualMappingCuration MONDO:0023807 obsolete midphalangeal hair skos:exactMatch OMIM:157200 midphalangeal hair semapv:ManualMappingCuration MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:ManualMappingCuration MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:ManualMappingCuration MONDO:0024265 Duane syndrome type 1 skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:ManualMappingCuration MONDO:0024266 patent ductus arteriosus 3 skos:exactMatch OMIM:617039 patent ductus arteriosus 3 semapv:ManualMappingCuration MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:ManualMappingCuration MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:exactMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, type 2a semapv:ManualMappingCuration MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:ManualMappingCuration MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:ManualMappingCuration MONDO:0024463 ovarian dysgenesis 1 skos:exactMatch OMIM:233300 ovarian dysgenesis 1 semapv:ManualMappingCuration MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch OMIM:613038 pituitary hormone deficiency, combined or isolated, 1 semapv:ManualMappingCuration MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:ManualMappingCuration MONDO:0024466 facial paresis, hereditary congenital, 1 skos:exactMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:ManualMappingCuration MONDO:0024498 glioma susceptibility 1 skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:ManualMappingCuration MONDO:0024506 Adams-Oliver syndrome 1 skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:ManualMappingCuration MONDO:0024507 aniridia 1 skos:exactMatch OMIM:106210 aniridia 1 semapv:ManualMappingCuration MONDO:0024508 epilepsy, hot water, 1 skos:exactMatch OMIM:613339 epilepsy, hot water, 1 semapv:ManualMappingCuration MONDO:0024517 SMARCB1-related schwannomatosis skos:exactMatch OMIM:162091 schwannomatosis 1 semapv:ManualMappingCuration MONDO:0024519 renal hypodysplasia/aplasia 1 skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:ManualMappingCuration MONDO:0024520 renal hypodysplasia/aplasia 3 skos:exactMatch OMIM:617805 renal hypodysplasia/aplasia 3 semapv:ManualMappingCuration MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:exactMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:ManualMappingCuration MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:exactMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:ManualMappingCuration MONDO:0024523 aortic valve disease 1 skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:ManualMappingCuration MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:exactMatch OMIM:127500 dyschromatosis universalis hereditaria 1 semapv:ManualMappingCuration MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:ManualMappingCuration MONDO:0024526 Zimmermann-Laband syndrome 1 skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:ManualMappingCuration MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:exactMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:ManualMappingCuration MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:ManualMappingCuration MONDO:0024529 MVP1 skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:ManualMappingCuration MONDO:0024530 Bethlem myopathy 1A skos:exactMatch OMIM:158810 bethlem myopathy 1a semapv:ManualMappingCuration MONDO:0024531 myopathy, tubular aggregate, 1 skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:ManualMappingCuration MONDO:0024532 otofaciocervical syndrome 1 skos:exactMatch OMIM:166780 otofaciocervical syndrome 1 semapv:ManualMappingCuration MONDO:0024533 pulmonary hypertension, primary, 1 skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:ManualMappingCuration MONDO:0024534 Dowling-Degos disease 1 skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:ManualMappingCuration MONDO:0024535 Singleton-Merten syndrome 1 skos:exactMatch OMIM:182250 singleton-merten syndrome 1 semapv:ManualMappingCuration MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch OMIM:202200 glucocorticoid deficiency 1 semapv:ManualMappingCuration MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:ManualMappingCuration MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:ManualMappingCuration MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:exactMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:ManualMappingCuration MONDO:0024541 trichohepatoenteric syndrome 1 skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:ManualMappingCuration MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:ManualMappingCuration MONDO:0024543 brittle cornea syndrome 1 skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:ManualMappingCuration MONDO:0024544 obsolete Heimler syndrome 1 skos:exactMatch OMIM:234580 heimler syndrome 1 semapv:ManualMappingCuration MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:ManualMappingCuration MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:ManualMappingCuration MONDO:0024547 pancreatic agenesis 1 skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:ManualMappingCuration MONDO:0024548 peeling skin syndrome 1 skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:ManualMappingCuration MONDO:0024549 microphthalmia with coloboma 1 skos:exactMatch OMIM:300345 microphthalmia/coloboma 1 semapv:ManualMappingCuration MONDO:0024550 frontometaphyseal dysplasia 1 skos:exactMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:ManualMappingCuration MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:ManualMappingCuration MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:ManualMappingCuration MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:ManualMappingCuration MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:ManualMappingCuration MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:ManualMappingCuration MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:ManualMappingCuration MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:ManualMappingCuration MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:ManualMappingCuration MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:exactMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:ManualMappingCuration MONDO:0024560 PDA1 skos:exactMatch OMIM:607411 patent ductus arteriosus 1 semapv:ManualMappingCuration MONDO:0024561 vitelliform macular dystrophy 3 skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:ManualMappingCuration MONDO:0024562 sick sinus syndrome 1 skos:exactMatch OMIM:608567 sick sinus syndrome 1 semapv:ManualMappingCuration MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:exactMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:ManualMappingCuration MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:ManualMappingCuration MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:ManualMappingCuration MONDO:0024566 febrile seizures, familial, 11 skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:ManualMappingCuration MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:ManualMappingCuration MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch OMIM:615438 infantile liver failure syndrome 1 semapv:ManualMappingCuration MONDO:0024569 optic atrophy 8 skos:exactMatch OMIM:616648 optic atrophy 8 semapv:ManualMappingCuration MONDO:0024570 hyperparathyroidism 4 skos:exactMatch OMIM:617343 hyperparathyroidism 4 semapv:ManualMappingCuration MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development semapv:ManualMappingCuration MONDO:0024633 hypertensive nephropathy skos:exactMatch OMIM:608026 hypertensive nephropathy semapv:ManualMappingCuration MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:ManualMappingCuration MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch OMIM:301075 myopathy, distal, 7, adult-onset, X-linked semapv:ManualMappingCuration MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge type semapv:ManualMappingCuration MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch OMIM:301077 spermatogenic failure, x-linked, 4 semapv:ManualMappingCuration MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked semapv:ManualMappingCuration MONDO:0024781 immunodeficiency 102 skos:exactMatch OMIM:301082 immunodeficiency 102 semapv:ManualMappingCuration MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:ManualMappingCuration MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked skos:exactMatch OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:ManualMappingCuration MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:exactMatch OMIM:301058 developmental and epileptic encephalopathy 90 semapv:ManualMappingCuration MONDO:0025354 spermatogenic failure, X-linked, 3 skos:exactMatch OMIM:301059 spermatogenic failure, x-linked, 3 semapv:ManualMappingCuration MONDO:0025356 azoospermia, obstructive, with nephrolithiasis skos:exactMatch OMIM:301060 azoospermia, obstructive, with nephrolithiasis semapv:ManualMappingCuration MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 skos:exactMatch OMIM:500013 charcot-marie-tooth disease, axonal, mitochondrial semapv:ManualMappingCuration MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 semapv:ManualMappingCuration MONDO:0025691 dystonia 30 skos:exactMatch OMIM:619291 dystonia 30 semapv:ManualMappingCuration MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch OMIM:619325 coffin-siris syndrome 12 semapv:ManualMappingCuration MONDO:0025701 leukodystrophy, hypomyelinating, 22 skos:exactMatch OMIM:619328 leukodystrophy, hypomyelinating, 22 semapv:ManualMappingCuration MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 semapv:ManualMappingCuration MONDO:0025712 angioedema, hereditary, 4 skos:exactMatch OMIM:619360 angioedema, hereditary, 4 semapv:ManualMappingCuration MONDO:0025713 angioedema, hereditary, 7 skos:exactMatch OMIM:619366 angioedema, hereditary, 7 semapv:ManualMappingCuration MONDO:0026404 X inactivation, familial skewed, 1 skos:exactMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:ManualMappingCuration MONDO:0026426 X inactivation, familial skewed, 2 skos:exactMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:ManualMappingCuration MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:exactMatch OMIM:301020 mitochondrial complex 1 deficiency, nuclear type 12 semapv:ManualMappingCuration MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:exactMatch OMIM:301021 mitochondrial complex 1 deficiency, nuclear type 30 semapv:ManualMappingCuration MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:ManualMappingCuration MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:exactMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:ManualMappingCuration MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch OMIM:301025 paganini-miozzo syndrome semapv:ManualMappingCuration MONDO:0026726 nephrotic syndrome, type 20 skos:exactMatch OMIM:301028 nephrotic syndrome, type 20 semapv:ManualMappingCuration MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch OMIM:301029 shukla-vernon syndrome semapv:ManualMappingCuration MONDO:0026729 congenital disorder of glycosylation, type ICC skos:exactMatch OMIM:301031 congenital disorder of glycosylation, type icc semapv:ManualMappingCuration MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch OMIM:301032 basilicata-akhtar syndrome semapv:ManualMappingCuration MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:exactMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:ManualMappingCuration MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:exactMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:ManualMappingCuration MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:exactMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type semapv:ManualMappingCuration MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:exactMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:ManualMappingCuration MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:ManualMappingCuration MONDO:0026765 congenital disorder of glycosylation, type IIr skos:exactMatch OMIM:301045 congenital disorder of glycosylation, type iir semapv:ManualMappingCuration MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:exactMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:ManualMappingCuration MONDO:0026768 obsolete warfarin sensitivity, X-linked skos:exactMatch OMIM:301052 warfarin sensitivity, X-linked semapv:ManualMappingCuration MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects skos:exactMatch OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects semapv:ManualMappingCuration MONDO:0026777 VEXAS syndrome skos:exactMatch OMIM:301054 VEXAS syndrome semapv:ManualMappingCuration MONDO:0026856 obsolete homosexuality 1 skos:exactMatch OMIM:306995 homosexuality 1 semapv:ManualMappingCuration MONDO:0027048 deafness, Y-linked 2 skos:exactMatch OMIM:400047 deafness, Y-linked 2 semapv:ManualMappingCuration MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 skos:exactMatch OMIM:500014 mitochondrial complex 1 deficiency, mitochondrial type 1 semapv:ManualMappingCuration MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch OMIM:500015 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 semapv:ManualMappingCuration MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:ManualMappingCuration MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:ManualMappingCuration MONDO:0027451 autosomal recessive cutis laxa type 2D skos:exactMatch OMIM:617403 cutis laxa, autosomal recessive, type 2d semapv:ManualMappingCuration MONDO:0027462 autosomal recessive cutis laxa type 2C skos:exactMatch OMIM:617402 cutis laxa, autosomal recessive, type 2c semapv:ManualMappingCuration MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:exactMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:ManualMappingCuration MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:ManualMappingCuration MONDO:0029130 polydactyly, postaxial, type A8 skos:exactMatch OMIM:618123 polydactyly, postaxial, type a8 semapv:ManualMappingCuration MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:exactMatch OMIM:618124 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development semapv:ManualMappingCuration MONDO:0029132 Liddle syndrome 3 skos:exactMatch OMIM:618126 liddle syndrome 3 semapv:ManualMappingCuration MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch OMIM:618129 muscular dystrophy, limb-girdle, autosomal dominant 4 semapv:ManualMappingCuration MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch OMIM:618131 immunodeficiency 58 semapv:ManualMappingCuration MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 semapv:ManualMappingCuration MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch OMIM:618138 muscular dystrophy, limb-girdle, autosomal recessive 23 semapv:ManualMappingCuration MONDO:0029137 hearing loss, autosomal dominant 74 skos:exactMatch OMIM:618140 deafness, autosomal dominant 74 semapv:ManualMappingCuration MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch OMIM:618141 developmental and epileptic encephalopathy 67 semapv:ManualMappingCuration MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 skos:exactMatch OMIM:618143 developmental and epileptic encephalopathy 95 semapv:ManualMappingCuration MONDO:0029141 Usher syndrome, type 4 skos:exactMatch OMIM:618144 usher syndrome, type 4 semapv:ManualMappingCuration MONDO:0029142 hearing loss, autosomal recessive 111 skos:exactMatch OMIM:618145 deafness, autosomal recessive 111 semapv:ManualMappingCuration MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:exactMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:ManualMappingCuration MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:ManualMappingCuration MONDO:0029145 orofacial cleft 8 skos:exactMatch OMIM:618149 orofacial cleft 8 semapv:ManualMappingCuration MONDO:0029147 spermatogenic failure 33 skos:exactMatch OMIM:618152 spermatogenic failure 33 semapv:ManualMappingCuration MONDO:0029148 spermatogenic failure 34 skos:exactMatch OMIM:618153 spermatogenic failure 34 semapv:ManualMappingCuration MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:ManualMappingCuration MONDO:0030004 autism, susceptibility to, 20 skos:exactMatch OMIM:618830 autism, susceptibility to, 20 semapv:ManualMappingCuration MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay semapv:ManualMappingCuration MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch OMIM:618835 combined oxidative phosphorylation deficiency 40 semapv:ManualMappingCuration MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:exactMatch OMIM:618838 combined oxidative phosphorylation deficiency 41 semapv:ManualMappingCuration MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:exactMatch OMIM:618839 combined oxidative phosphorylation deficiency 42 semapv:ManualMappingCuration MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch OMIM:618840 alopecia-intellectual disability syndrome 4 semapv:ManualMappingCuration MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia semapv:ManualMappingCuration MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch OMIM:618846 diets-jongmans syndrome semapv:ManualMappingCuration MONDO:0030013 immunodeficiency 66 skos:exactMatch OMIM:618847 immunodeficiency 66 semapv:ManualMappingCuration MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 semapv:ManualMappingCuration MONDO:0030015 bone marrow failure syndrome 6 skos:exactMatch OMIM:618849 bone marrow failure syndrome 6 semapv:ManualMappingCuration MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:exactMatch OMIM:618851 combined oxidative phosphorylation deficiency 43 semapv:ManualMappingCuration MONDO:0030018 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch OMIM:618852 autoinflammation with episodic fever and lymphadenopathy semapv:ManualMappingCuration MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch OMIM:618853 anauxetic dysplasia 3 semapv:ManualMappingCuration MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch OMIM:618855 combined oxidative phosphorylation deficiency 44 semapv:ManualMappingCuration MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities semapv:ManualMappingCuration MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures semapv:ManualMappingCuration MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch OMIM:618863 retinal dystrophy with leukodystrophy semapv:ManualMappingCuration MONDO:0030027 tremor, hereditary essential, 6 skos:exactMatch OMIM:618866 tremor, hereditary essential, 6 semapv:ManualMappingCuration MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline semapv:ManualMappingCuration MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age semapv:ManualMappingCuration MONDO:0030030 Nizon-Isidor syndrome skos:exactMatch OMIM:618872 nizon-isidor syndrome semapv:ManualMappingCuration MONDO:0030031 lissencephaly 10 skos:exactMatch OMIM:618873 lissencephaly 10 semapv:ManualMappingCuration MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications semapv:ManualMappingCuration MONDO:0030034 epilepsy, progressive myoclonic, 11 skos:exactMatch OMIM:618876 epilepsy, progressive myoclonic, 11 semapv:ManualMappingCuration MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome semapv:ManualMappingCuration MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome semapv:ManualMappingCuration MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures semapv:ManualMappingCuration MONDO:0030038 hereditary glaucoma, primary closed-angle skos:exactMatch OMIM:618880 glaucoma, primary closed-angle semapv:ManualMappingCuration MONDO:0030042 proteinuria, chronic benign skos:exactMatch OMIM:618884 proteinuria, chronic benign semapv:ManualMappingCuration MONDO:0030043 congenital disorder of glycosylation, type iit skos:exactMatch OMIM:618885 congenital disorder of glycosylation, type iit semapv:ManualMappingCuration MONDO:0030044 pseudo-TORCH syndrome 3 skos:exactMatch OMIM:618886 pseudo-torch syndrome 3 semapv:ManualMappingCuration MONDO:0030045 Liberfarb syndrome skos:exactMatch OMIM:618889 liberfarb syndrome semapv:ManualMappingCuration MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity semapv:ManualMappingCuration MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome semapv:ManualMappingCuration MONDO:0030048 harderoporphyria skos:exactMatch OMIM:618892 harderoporphyria semapv:ManualMappingCuration MONDO:0030049 46,xx sex reversal 5 skos:exactMatch OMIM:618901 46,xx sex reversal 5 semapv:ManualMappingCuration MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:ManualMappingCuration MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch OMIM:618910 developmental and epileptic encephalopathy 86 semapv:ManualMappingCuration MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch OMIM:618913 fanconi renotubular syndrome 5 semapv:ManualMappingCuration MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome semapv:ManualMappingCuration MONDO:0030058 hearing loss, autosomal dominant 77 skos:exactMatch OMIM:618915 deafness, autosomal dominant 77 semapv:ManualMappingCuration MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch OMIM:618916 developmental and epileptic encephalopathy 87 semapv:ManualMappingCuration MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities semapv:ManualMappingCuration MONDO:0030061 periventricular nodular heterotopia 9 skos:exactMatch OMIM:618918 periventricular nodular heterotopia 9 semapv:ManualMappingCuration MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 semapv:ManualMappingCuration MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities semapv:ManualMappingCuration MONDO:0030064 episodic ataxia, type 9 skos:exactMatch OMIM:618924 episodic ataxia, type 9 semapv:ManualMappingCuration MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:ManualMappingCuration MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 semapv:ManualMappingCuration MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch OMIM:618939 treacher collins syndrome 4 semapv:ManualMappingCuration MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:exactMatch OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections semapv:ManualMappingCuration MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility semapv:ManualMappingCuration MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch OMIM:618955 retinitis pigmentosa 89 semapv:ManualMappingCuration MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch OMIM:618959 developmental and epileptic encephalopathy 88 semapv:ManualMappingCuration MONDO:0030073 Mitchell syndrome skos:exactMatch OMIM:618960 mitchell syndrome semapv:ManualMappingCuration MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy semapv:ManualMappingCuration MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 semapv:ManualMappingCuration MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:exactMatch OMIM:618856 diabetes mellitus, permanent neonatal, 2 semapv:ManualMappingCuration MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:exactMatch OMIM:618857 diabetes mellitus, permanent neonatal, 3 semapv:ManualMappingCuration MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:exactMatch OMIM:618858 diabetes mellitus, permanent neonatal, 4 semapv:ManualMappingCuration MONDO:0030105 galactosemia 4 skos:exactMatch OMIM:618881 galactosemia 4 semapv:ManualMappingCuration MONDO:0030116 silver-russell syndrome 2 skos:exactMatch OMIM:618905 silver-russell syndrome 2 semapv:ManualMappingCuration MONDO:0030118 silver-russell syndrome 4 skos:exactMatch OMIM:618907 silver-russell syndrome 4 semapv:ManualMappingCuration MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch OMIM:618940 oculopharyngodistal myopathy 2 semapv:ManualMappingCuration MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch OMIM:619301 pontocerebellar hypoplasia, type 14 semapv:ManualMappingCuration MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:exactMatch OMIM:619302 pontocerebellar hypoplasia, type 15 semapv:ManualMappingCuration MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:exactMatch OMIM:619303 pontocerebellar hypoplasia, type 1e semapv:ManualMappingCuration MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:exactMatch OMIM:619304 pontocerebellar hypoplasia, type 1f semapv:ManualMappingCuration MONDO:0030263 leukodystrophy, hypomyelinating, 21 skos:exactMatch OMIM:619310 leukodystrophy, hypomyelinating, 21 semapv:ManualMappingCuration MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy skos:exactMatch OMIM:619313 immunodeficiency 80 with or without congenital cardiomyopathy semapv:ManualMappingCuration MONDO:0030268 developmental and epileptic encephalopathy 6B skos:exactMatch OMIM:619317 developmental and epileptic encephalopathy 6b semapv:ManualMappingCuration MONDO:0030270 lymphatic malformation 9 skos:exactMatch OMIM:619319 lymphatic malformation 9 semapv:ManualMappingCuration MONDO:0030281 arthrogryposis multiplex congenita 6 skos:exactMatch OMIM:619334 arthrogryposis multiplex congenita 6 semapv:ManualMappingCuration MONDO:0030293 angioedema, hereditary, 5 skos:exactMatch OMIM:619361 angioedema, hereditary, 5 semapv:ManualMappingCuration MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:exactMatch OMIM:619362 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 semapv:ManualMappingCuration MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:exactMatch OMIM:619365 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 semapv:ManualMappingCuration MONDO:0030298 angioedema, hereditary, 8 skos:exactMatch OMIM:619367 angioedema, hereditary, 8 semapv:ManualMappingCuration MONDO:0030300 cardiomyopathy, dilated, 2D skos:exactMatch OMIM:619371 cardiomyopathy, dilated, 2d semapv:ManualMappingCuration MONDO:0030302 immunodeficiency 81 skos:exactMatch OMIM:619374 immunodeficiency 81 semapv:ManualMappingCuration MONDO:0030307 spermatogenic failure 55 skos:exactMatch OMIM:619380 spermatogenic failure 55 semapv:ManualMappingCuration MONDO:0030308 immunodeficiency 82 with systemic inflammation skos:exactMatch OMIM:619381 immunodeficiency 82 with systemic inflammation semapv:ManualMappingCuration MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch OMIM:619386 combined oxidative phosphorylation deficiency 52 semapv:ManualMappingCuration MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 skos:exactMatch OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 semapv:ManualMappingCuration MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:ManualMappingCuration MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:ManualMappingCuration MONDO:0030316 lymphatic malformation 11 skos:exactMatch OMIM:619401 lymphatic malformation 11 semapv:ManualMappingCuration MONDO:0030317 cardiomyopathy, familial hypertrophic, 28 skos:exactMatch OMIM:619402 cardiomyopathy, familial hypertrophic, 28 semapv:ManualMappingCuration MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 skos:exactMatch OMIM:619405 spinocerebellar ataxia, autosomal recessive 30 semapv:ManualMappingCuration MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 skos:exactMatch OMIM:619422 spinocerebellar ataxia, autosomal recessive 31 semapv:ManualMappingCuration MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch OMIM:619425 mitochondrial DNA depletion syndrome 16b (neuroophthalmic type) semapv:ManualMappingCuration MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:exactMatch OMIM:619431 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 semapv:ManualMappingCuration MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:exactMatch OMIM:619433 cardiomyopathy, familial restrictive, 6 semapv:ManualMappingCuration MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:exactMatch OMIM:619435 ritscher-schinzel syndrome 4 semapv:ManualMappingCuration MONDO:0030332 ciliary dyskinesia, primary, 46 skos:exactMatch OMIM:619436 ciliary dyskinesia, primary, 46 semapv:ManualMappingCuration MONDO:0030333 immunodeficiency 84 skos:exactMatch OMIM:619437 immunodeficiency 84 semapv:ManualMappingCuration MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 skos:exactMatch OMIM:619441 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 semapv:ManualMappingCuration MONDO:0030335 diarrhea 12, with microvillus atrophy skos:exactMatch OMIM:619445 diarrhea 12, with microvillus atrophy semapv:ManualMappingCuration MONDO:0030337 cutis laxa, autosomal recessive, type 2E skos:exactMatch OMIM:619451 cutis laxa, autosomal recessive, type 2e semapv:ManualMappingCuration MONDO:0030338 anencephaly 2 skos:exactMatch OMIM:619452 anencephaly 2 semapv:ManualMappingCuration MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:exactMatch OMIM:619453 microcephaly 28, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive skos:exactMatch OMIM:619461 myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive semapv:ManualMappingCuration MONDO:0030346 ciliary dyskinesia, primary, 47, and lissencephaly skos:exactMatch OMIM:619466 ciliary dyskinesia, primary, 47, and lissencephaly semapv:ManualMappingCuration MONDO:0030353 Joubert syndrome 38 skos:exactMatch OMIM:619476 joubert syndrome 38 semapv:ManualMappingCuration MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch OMIM:619477 facioscapulohumeral muscular dystrophy 3, digenic semapv:ManualMappingCuration MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch OMIM:619478 facioscapulohumeral muscular dystrophy 4, digenic semapv:ManualMappingCuration MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly skos:exactMatch OMIM:619479 short-rib thoracic dysplasia 21 without polydactyly semapv:ManualMappingCuration MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 skos:exactMatch OMIM:619484 cholestasis, progressive familial intrahepatic, 6 semapv:ManualMappingCuration MONDO:0030361 Aicardi-Goutieres syndrome 8 skos:exactMatch OMIM:619486 aicardi-goutieres syndrome 8 semapv:ManualMappingCuration MONDO:0030362 Aicardi-Goutieres syndrome 9 skos:exactMatch OMIM:619487 aicardi-goutieres syndrome 9 semapv:ManualMappingCuration MONDO:0030366 cardiomyopathy, dilated, 2E skos:exactMatch OMIM:619492 cardiomyopathy, dilated, 2e semapv:ManualMappingCuration MONDO:0030374 WHIM syndrome 2 skos:exactMatch OMIM:619407 whim syndrome 2 semapv:ManualMappingCuration MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 skos:exactMatch OMIM:619418 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 semapv:ManualMappingCuration MONDO:0030376 Martsolf syndrome 2 skos:exactMatch OMIM:619420 martsolf syndrome 2 semapv:ManualMappingCuration MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch OMIM:619423 combined oxidative phosphorylation deficiency 53 semapv:ManualMappingCuration MONDO:0030397 portal hypertension, noncirrhotic, 2 skos:exactMatch OMIM:619463 portal hypertension, noncirrhotic, 2 semapv:ManualMappingCuration MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive skos:exactMatch OMIM:619465 visceral neuropathy, familial, 2, autosomal recessive semapv:ManualMappingCuration MONDO:0030423 congenital disorder of glycosylation, type 2v skos:exactMatch OMIM:619493 congenital disorder of glycosylation, type 2v semapv:ManualMappingCuration MONDO:0030428 immunodeficiency 85 and autoimmunity skos:exactMatch OMIM:619510 immunodeficiency 85 and autoimmunity semapv:ManualMappingCuration MONDO:0030430 spermatogenic failure 56 skos:exactMatch OMIM:619515 spermatogenic failure 56 semapv:ManualMappingCuration MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF skos:exactMatch OMIM:619519 charcot-marie-tooth disease, axonal, type 2ff semapv:ManualMappingCuration MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 skos:exactMatch OMIM:619521 epilepsy, idiopathic generalized, susceptibility to, 18 semapv:ManualMappingCuration MONDO:0030436 anemia, sideroblastic, 5 skos:exactMatch OMIM:619523 anemia, sideroblastic, 5 semapv:ManualMappingCuration MONDO:0030437 congenital disorder of glycosylation, type IIw skos:exactMatch OMIM:619525 congenital disorder of glycosylation, type iiw semapv:ManualMappingCuration MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:exactMatch OMIM:619527 pontocerebellar hypoplasia, type 16 semapv:ManualMappingCuration MONDO:0030439 spermatogenic failure 57 skos:exactMatch OMIM:619528 spermatogenic failure 57 semapv:ManualMappingCuration MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch OMIM:619531 cone-rod dystrophy 22 semapv:ManualMappingCuration MONDO:0030448 immunodeficiency 86 skos:exactMatch OMIM:619549 immunodeficiency 86 semapv:ManualMappingCuration MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia skos:exactMatch OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia semapv:ManualMappingCuration MONDO:0030453 developmental and epileptic encephalopathy 97 skos:exactMatch OMIM:619561 developmental and epileptic encephalopathy 97 semapv:ManualMappingCuration MONDO:0030454 Joubert syndrome 39 skos:exactMatch OMIM:619562 joubert syndrome 39 semapv:ManualMappingCuration MONDO:0030455 dystonia 31 skos:exactMatch OMIM:619565 dystonia 31 semapv:ManualMappingCuration MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 skos:exactMatch OMIM:619566 muscular dystrophy, limb-girdle, autosomal recessive 27 semapv:ManualMappingCuration MONDO:0030457 immunodeficiency 87 and autoimmunity skos:exactMatch OMIM:619573 immunodeficiency 87 and autoimmunity semapv:ManualMappingCuration MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH skos:exactMatch OMIM:619574 charcot-marie-tooth disease, axonal, type 2hh semapv:ManualMappingCuration MONDO:0030462 Joubert syndrome 40 skos:exactMatch OMIM:619582 joubert syndrome 40 semapv:ManualMappingCuration MONDO:0030463 spermatogenic failure 58 skos:exactMatch OMIM:619585 spermatogenic failure 58 semapv:ManualMappingCuration MONDO:0030465 cataract 49 skos:exactMatch OMIM:619593 cataract 49 semapv:ManualMappingCuration MONDO:0030471 Galloway-Mowat syndrome 9 skos:exactMatch OMIM:619603 galloway-mowat syndrome 9 semapv:ManualMappingCuration MONDO:0030472 developmental and epileptic encephalopathy 98 skos:exactMatch OMIM:619605 developmental and epileptic encephalopathy 98 semapv:ManualMappingCuration MONDO:0030473 developmental and epileptic encephalopathy 99 skos:exactMatch OMIM:619606 developmental and epileptic encephalopathy 99 semapv:ManualMappingCuration MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility skos:exactMatch OMIM:619607 heterotaxy, visceral, 10, autosomal, with male infertility semapv:ManualMappingCuration MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility skos:exactMatch OMIM:619608 heterotaxy, visceral, 11, autosomal, with male infertility semapv:ManualMappingCuration MONDO:0030476 Galloway-Mowat syndrome 10 skos:exactMatch OMIM:619609 galloway-mowat syndrome 10 semapv:ManualMappingCuration MONDO:0030480 hearing loss, autosomal recessive 119 skos:exactMatch OMIM:619615 deafness, autosomal recessive 119 semapv:ManualMappingCuration MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch OMIM:619621 spastic paraplegia 84, autosomal recessive semapv:ManualMappingCuration MONDO:0030483 immunodeficiency 88 skos:exactMatch OMIM:619630 immunodeficiency 88 semapv:ManualMappingCuration MONDO:0030484 immunodeficiency 89 and autoimmunity skos:exactMatch OMIM:619632 immunodeficiency 89 and autoimmunity semapv:ManualMappingCuration MONDO:0030486 dystonia 32 skos:exactMatch OMIM:619637 dystonia 32 semapv:ManualMappingCuration MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type skos:exactMatch OMIM:619638 spondylometaphyseal dysplasia, pagnamenta type semapv:ManualMappingCuration MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:exactMatch OMIM:619555 epidermolysis bullosa simplex 2a, generalized severe semapv:ManualMappingCuration MONDO:0030490 oocyte maturation defect 11 skos:exactMatch OMIM:619643 oocyte/zygote/embryo maturation arrest 11 semapv:ManualMappingCuration MONDO:0030491 immunodeficiency 91 and hyperinflammation skos:exactMatch OMIM:619644 immunodeficiency 91 and hyperinflammation semapv:ManualMappingCuration MONDO:0030492 spermatogenic failure 59 skos:exactMatch OMIM:619645 spermatogenic failure 59 semapv:ManualMappingCuration MONDO:0030493 spermatogenic failure 60 skos:exactMatch OMIM:619646 spermatogenic failure 60 semapv:ManualMappingCuration MONDO:0030498 immunodeficiency 92 skos:exactMatch OMIM:619652 immunodeficiency 92 semapv:ManualMappingCuration MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch OMIM:619656 loeys-dietz syndrome 6 semapv:ManualMappingCuration MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss skos:exactMatch OMIM:619658 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss semapv:ManualMappingCuration MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 skos:exactMatch OMIM:619662 cholestasis, progressive familial intrahepatic, 8 semapv:ManualMappingCuration MONDO:0030506 ovarian dysgenesis 9 skos:exactMatch OMIM:619665 ovarian dysgenesis 9 semapv:ManualMappingCuration MONDO:0030507 spermatogenic failure 61 skos:exactMatch OMIM:619672 spermatogenic failure 61 semapv:ManualMappingCuration MONDO:0030508 spermatogenic failure 62 skos:exactMatch OMIM:619673 spermatogenic failure 62 semapv:ManualMappingCuration MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch OMIM:619686 spastic paraplegia 85, autosomal recessive semapv:ManualMappingCuration MONDO:0030513 dystonia 33 skos:exactMatch OMIM:619687 dystonia 33 semapv:ManualMappingCuration MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy skos:exactMatch OMIM:619688 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy semapv:ManualMappingCuration MONDO:0030515 spermatogenic failure 63 skos:exactMatch OMIM:619689 spermatogenic failure 63 semapv:ManualMappingCuration MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:exactMatch OMIM:619691 trichothiodystrophy 8, nonphotosensitive semapv:ManualMappingCuration MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:exactMatch OMIM:619692 trichothiodystrophy 9, nonphotosensitive semapv:ManualMappingCuration MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:exactMatch OMIM:619693 agammaglobulinemia 9, autosomal recessive semapv:ManualMappingCuration MONDO:0030522 spermatogenic failure 64 skos:exactMatch OMIM:619696 spermatogenic failure 64 semapv:ManualMappingCuration MONDO:0030523 oocyte maturation defect 12 skos:exactMatch OMIM:619697 oocyte/zygote/embryo maturation arrest 12 semapv:ManualMappingCuration MONDO:0030524 mucopolysaccharidosis, type 10 skos:exactMatch OMIM:619698 mucopolysaccharidosis, type 10 semapv:ManualMappingCuration MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate skos:exactMatch OMIM:619588 epidermolysis bullosa simplex 2b, generalized intermediate semapv:ManualMappingCuration MONDO:0030527 epidermolysis bullosa simplex 2C, localized skos:exactMatch OMIM:619594 epidermolysis bullosa simplex 2c, localized semapv:ManualMappingCuration MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch OMIM:619705 immunodeficiency 93 and hypertrophic cardiomyopathy semapv:ManualMappingCuration MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:exactMatch OMIM:619707 agammaglobulinemia 10, autosomal dominant semapv:ManualMappingCuration MONDO:0030531 spermatogenic failure 65 skos:exactMatch OMIM:619712 spermatogenic failure 65 semapv:ManualMappingCuration MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:exactMatch OMIM:619717 intellectual developmental disorder, autosomal recessive 73 semapv:ManualMappingCuration MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia skos:exactMatch OMIM:619718 hypogonadotropic hypogonadism 26 with or without anosmia semapv:ManualMappingCuration MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:exactMatch OMIM:619599 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive semapv:ManualMappingCuration MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:exactMatch OMIM:619482 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction semapv:ManualMappingCuration MONDO:0030538 dystonia 34, myoclonic skos:exactMatch OMIM:619724 dystonia 34, myoclonic semapv:ManualMappingCuration MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:exactMatch OMIM:619483 central hypoventilation syndrome, congenital, 3 semapv:ManualMappingCuration MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch OMIM:619737 combined oxidative phosphorylation deficiency 54 semapv:ManualMappingCuration MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch OMIM:619500 deafness, autosomal dominant 81 semapv:ManualMappingCuration MONDO:0030553 acromesomelic dysplasia 4 skos:exactMatch OMIM:619636 acromesomelic dysplasia 4 semapv:ManualMappingCuration MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 skos:exactMatch OMIM:619720 bryant-li-bhoj neurodevelopmental syndrome 1 semapv:ManualMappingCuration MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 skos:exactMatch OMIM:619721 bryant-li-bhoj neurodevelopmental syndrome 2 semapv:ManualMappingCuration MONDO:0030608 interstitial lung disease 1 skos:exactMatch OMIM:619611 interstitial lung disease 1 semapv:ManualMappingCuration MONDO:0030619 retinitis pigmentosa 92 skos:exactMatch OMIM:619614 retinitis pigmentosa 92 semapv:ManualMappingCuration MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive skos:exactMatch OMIM:619647 dyskinesia with orofacial involvement, autosomal recessive semapv:ManualMappingCuration MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 skos:exactMatch OMIM:619661 leukoencephalopathy, hereditary diffuse, with spheroids 2 semapv:ManualMappingCuration MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:exactMatch OMIM:619708 gastrointestinal defects and immunodeficiency syndrome 2 semapv:ManualMappingCuration MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch OMIM:619735 spastic paraplegia 86, autosomal recessive semapv:ManualMappingCuration MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch OMIM:619736 teebi hypertelorism syndrome 2 semapv:ManualMappingCuration MONDO:0030676 parkinsonism-dystonia 3, childhood-onset skos:exactMatch OMIM:619738 parkinsonism-dystonia 3, childhood-onset semapv:ManualMappingCuration MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I skos:exactMatch OMIM:619742 charcot-marie-tooth disease, demyelinating, type 1i semapv:ManualMappingCuration MONDO:0030679 Noonan syndrome 14 skos:exactMatch OMIM:619745 noonan syndrome 14 semapv:ManualMappingCuration MONDO:0030680 cardiomyopathy, dilated, 2F skos:exactMatch OMIM:619747 cardiomyopathy, dilated, 2f semapv:ManualMappingCuration MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies skos:exactMatch OMIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies semapv:ManualMappingCuration MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia skos:exactMatch OMIM:619755 hypogonadotropic hypogonadism 27 without anosmia semapv:ManualMappingCuration MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H skos:exactMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h semapv:ManualMappingCuration MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 skos:exactMatch OMIM:619767 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 semapv:ManualMappingCuration MONDO:0030692 immunodeficiency 95 skos:exactMatch OMIM:619773 immunodeficiency 95 semapv:ManualMappingCuration MONDO:0030693 immunodeficiency 96 skos:exactMatch OMIM:619774 immunodeficiency 96 semapv:ManualMappingCuration MONDO:0030695 developmental and epileptic encephalopathy 100 skos:exactMatch OMIM:619777 developmental and epileptic encephalopathy 100 semapv:ManualMappingCuration MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch OMIM:619780 mitochondrial DNA depletion syndrome 20 (mngie type) semapv:ManualMappingCuration MONDO:0030697 myopia 28, autosomal recessive skos:exactMatch OMIM:619781 myopia 28, autosomal recessive semapv:ManualMappingCuration MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:exactMatch OMIM:619789 anemia, congenital dyserythropoietic, type iiib, autosomal recessive semapv:ManualMappingCuration MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch OMIM:619790 oculopharyngodistal myopathy 4 semapv:ManualMappingCuration MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:exactMatch OMIM:619795 osteogenesis imperfecta, type 22 semapv:ManualMappingCuration MONDO:0030716 spermatogenic failure 66 skos:exactMatch OMIM:619799 spermatogenic failure 66 semapv:ManualMappingCuration MONDO:0030717 immunodeficiency 97 with autoinflammation skos:exactMatch OMIM:619802 immunodeficiency 97 with autoinflammation semapv:ManualMappingCuration MONDO:0030718 spermatogenic failure 67 skos:exactMatch OMIM:619803 spermatogenic failure 67 semapv:ManualMappingCuration MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch OMIM:619804 deafness, autosomal dominant 82 semapv:ManualMappingCuration MONDO:0030721 spermatogenic failure 68 skos:exactMatch OMIM:619805 spermatogenic failure 68 semapv:ManualMappingCuration MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch OMIM:619808 deafness, autosomal dominant 83 semapv:ManualMappingCuration MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch OMIM:619810 deafness, autosomal dominant 84 semapv:ManualMappingCuration MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:exactMatch OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant semapv:ManualMappingCuration MONDO:0030727 developmental and epileptic encephalopathy 101 skos:exactMatch OMIM:619814 developmental and epileptic encephalopathy 101 semapv:ManualMappingCuration MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 skos:exactMatch OMIM:619758 tessadori-bicknell-van haaften neurodevelopmental syndrome 1 semapv:ManualMappingCuration MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 skos:exactMatch OMIM:619759 tessadori-bicknell-van haaften neurodevelopmental syndrome 2 semapv:ManualMappingCuration MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:exactMatch OMIM:619825 aortic aneurysm, familial thoracic 12 semapv:ManualMappingCuration MONDO:0030732 spermatogenic failure 69 skos:exactMatch OMIM:619826 spermatogenic failure 69 semapv:ManualMappingCuration MONDO:0030733 spermatogenic failure 70 skos:exactMatch OMIM:619828 spermatogenic failure 70 semapv:ManualMappingCuration MONDO:0030736 ovarian dysgenesis 10 skos:exactMatch OMIM:619834 ovarian dysgenesis 10 semapv:ManualMappingCuration MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate skos:exactMatch OMIM:619783 epidermolysis bullosa, junctional 2a, intermediate semapv:ManualMappingCuration MONDO:0030747 epidermolysis bullosa, junctional 2B, severe skos:exactMatch OMIM:619784 epidermolysis bullosa, junctional 2b, severe semapv:ManualMappingCuration MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate skos:exactMatch OMIM:619785 epidermolysis bullosa, junctional 3a, intermediate semapv:ManualMappingCuration MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:exactMatch OMIM:619786 epidermolysis bullosa, junctional 3b, severe semapv:ManualMappingCuration MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate skos:exactMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:ManualMappingCuration MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:exactMatch OMIM:619751 stuve-wiedemann syndrome 2 semapv:ManualMappingCuration MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:exactMatch OMIM:619816 epidermolysis bullosa, junctional 5a, intermediate semapv:ManualMappingCuration MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch OMIM:619775 congenital disorder of deglycosylation 2 semapv:ManualMappingCuration MONDO:0030781 restrictive dermopathy 2 skos:exactMatch OMIM:619793 restrictive dermopathy 2 semapv:ManualMappingCuration MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly semapv:ManualMappingCuration MONDO:0030787 spermatogenic failure 71 skos:exactMatch OMIM:619831 spermatogenic failure 71 semapv:ManualMappingCuration MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch OMIM:619845 retinitis pigmentosa 93 semapv:ManualMappingCuration MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias semapv:ManualMappingCuration MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch OMIM:619849 cholestasis, progressive familial intrahepatic, 9 semapv:ManualMappingCuration MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 semapv:ManualMappingCuration MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:ManualMappingCuration MONDO:0030809 spermatogenic failure 72 skos:exactMatch OMIM:619867 spermatogenic failure 72 semapv:ManualMappingCuration MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch OMIM:619868 cholestasis, progressive familial intrahepatic, 10 semapv:ManualMappingCuration MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) semapv:ManualMappingCuration MONDO:0030815 cholestasis, progressive familial intrahepatic, 11 skos:exactMatch OMIM:619874 cholestasis, progressive familial intrahepatic, 11 semapv:ManualMappingCuration MONDO:0030818 spermatogenic failure 73 skos:exactMatch OMIM:619878 spermatogenic failure 73 semapv:ManualMappingCuration MONDO:0030819 meckel syndrome 14 skos:exactMatch OMIM:619879 meckel syndrome 14 semapv:ManualMappingCuration MONDO:0030822 renal hypodysplasia/aplasia 4 skos:exactMatch OMIM:619887 renal hypodysplasia/aplasia 4 semapv:ManualMappingCuration MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant semapv:ManualMappingCuration MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy skos:exactMatch OMIM:619090 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy semapv:ManualMappingCuration MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities semapv:ManualMappingCuration MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:exactMatch OMIM:619855 thyroid hormone metabolism, abnormal, 2 semapv:ManualMappingCuration MONDO:0030840 mismatch repair cancer syndrome 2 skos:exactMatch OMIM:619096 mismatch repair cancer syndrome 2 semapv:ManualMappingCuration MONDO:0030841 mismatch repair cancer syndrome 3 skos:exactMatch OMIM:619097 mismatch repair cancer syndrome 3 semapv:ManualMappingCuration MONDO:0030843 mismatch repair cancer syndrome 4 skos:exactMatch OMIM:619101 mismatch repair cancer syndrome 4 semapv:ManualMappingCuration MONDO:0030844 spermatogenic failure 47 skos:exactMatch OMIM:619102 spermatogenic failure 47 semapv:ManualMappingCuration MONDO:0030846 spermatogenic failure 48 skos:exactMatch OMIM:619108 spermatogenic failure 48 semapv:ManualMappingCuration MONDO:0030847 arthrogryposis, distal, type 1C skos:exactMatch OMIM:619110 arthrogryposis, distal, type 1c semapv:ManualMappingCuration MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy semapv:ManualMappingCuration MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities semapv:ManualMappingCuration MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:exactMatch OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 semapv:ManualMappingCuration MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:exactMatch OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 semapv:ManualMappingCuration MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch OMIM:619124 developmental and epileptic encephalopathy 89 semapv:ManualMappingCuration MONDO:0030858 immunodeficiency 75 skos:exactMatch OMIM:619126 immunodeficiency 75 with lymphoproliferation semapv:ManualMappingCuration MONDO:0030859 COACH syndrome 2 skos:exactMatch OMIM:619111 coach syndrome 2 semapv:ManualMappingCuration MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 semapv:ManualMappingCuration MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch OMIM:619131 osteogenesis imperfecta, type 21 semapv:ManualMappingCuration MONDO:0030862 COACH syndrome 3 skos:exactMatch OMIM:619113 coach syndrome 3 semapv:ManualMappingCuration MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:exactMatch OMIM:619135 ritscher-schinzel syndrome 3 semapv:ManualMappingCuration MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:ManualMappingCuration MONDO:0030867 thrombocytopenia 7 skos:exactMatch OMIM:619130 thrombocytopenia 7 semapv:ManualMappingCuration MONDO:0030868 spermatogenic failure 49 skos:exactMatch OMIM:619144 spermatogenic failure 49 semapv:ManualMappingCuration MONDO:0030869 spermatogenic failure 50 skos:exactMatch OMIM:619145 spermatogenic failure 50 semapv:ManualMappingCuration MONDO:0030870 premature ovarian failure 17 skos:exactMatch OMIM:619146 premature ovarian failure 17 semapv:ManualMappingCuration MONDO:0030871 vertebral hypersegmentation and orofacial anomalies skos:exactMatch OMIM:619122 vertebral hypersegmentation and orofacial anomalies semapv:ManualMappingCuration MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch OMIM:619132 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 semapv:ManualMappingCuration MONDO:0030873 cardiofacioneurodevelopmental syndrome skos:exactMatch OMIM:619123 cardiofacioneurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch OMIM:619141 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 semapv:ManualMappingCuration MONDO:0030876 cardioacrofacial dysplasia 1 skos:exactMatch OMIM:619142 cardioacrofacial dysplasia 1 semapv:ManualMappingCuration MONDO:0030877 cardioacrofacial dysplasia 2 skos:exactMatch OMIM:619143 cardioacrofacial dysplasia 2 semapv:ManualMappingCuration MONDO:0030878 Kaya-Barakat-Masson syndrome skos:exactMatch OMIM:619125 kaya-barakat-masson syndrome semapv:ManualMappingCuration MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch OMIM:619127 mandibuloacral dysplasia progeroid syndrome semapv:ManualMappingCuration MONDO:0030881 developmental and epileptic encephalopathy 102 skos:exactMatch OMIM:619881 developmental and epileptic encephalopathy 102 semapv:ManualMappingCuration MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch OMIM:619161 carpal tunnel syndrome 2 semapv:ManualMappingCuration MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch OMIM:619133 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia semapv:ManualMappingCuration MONDO:0030886 holoprosencephaly 14 skos:exactMatch OMIM:619895 holoprosencephaly 14 semapv:ManualMappingCuration MONDO:0030887 cardiomyopathy, dilated, 2G skos:exactMatch OMIM:619897 cardiomyopathy, dilated, 2g semapv:ManualMappingCuration MONDO:0030890 pontocerebellar hypoplasia, IIA 17 skos:exactMatch OMIM:619909 pontocerebellar hypoplasia, type 17 semapv:ManualMappingCuration MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 skos:exactMatch OMIM:619910 intellectual developmental disorder, autosomal dominant 66 semapv:ManualMappingCuration MONDO:0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness skos:exactMatch OMIM:619147 leukoencephalopathy, progressive, infantile-onset, with or without deafness semapv:ManualMappingCuration MONDO:0030894 AMED syndrome, digenic skos:exactMatch OMIM:619151 amed syndrome, digenic semapv:ManualMappingCuration MONDO:0030895 nephrotic syndrome, type 22 skos:exactMatch OMIM:619155 nephrotic syndrome, type 22 semapv:ManualMappingCuration MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:exactMatch OMIM:619148 chromosome 13q33-q34 deletion syndrome semapv:ManualMappingCuration MONDO:0030897 Lessel-Kreienkamp syndrome skos:exactMatch OMIM:619149 lessel-kreienkamp syndrome semapv:ManualMappingCuration MONDO:0030898 immunodeficiency 76 skos:exactMatch OMIM:619164 immunodeficiency 76 semapv:ManualMappingCuration MONDO:0030899 oculocutaneous albinism type 8 skos:exactMatch OMIM:619165 oculocutaneous albinism, type 8 semapv:ManualMappingCuration MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures skos:exactMatch OMIM:619150 intellectual developmental disorder with paroxysmal dyskinesia or seizures semapv:ManualMappingCuration MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:exactMatch OMIM:619170 mitochondrial complex 1 deficiency, nuclear type 36 semapv:ManualMappingCuration MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:exactMatch OMIM:619172 hermansky-pudlak syndrome 11 semapv:ManualMappingCuration MONDO:0030905 hearing loss, autosomal recessive 117 skos:exactMatch OMIM:619174 deafness, autosomal recessive 117 semapv:ManualMappingCuration MONDO:0030907 intellectual disability, X-linked 106 skos:exactMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:ManualMappingCuration MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:exactMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic 35 semapv:ManualMappingCuration MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:exactMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge type semapv:ManualMappingCuration MONDO:0030910 intellectual disability, autosomal dominant 45 skos:exactMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:ManualMappingCuration MONDO:0030911 intellectual disability, autosomal dominant 46 skos:exactMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:ManualMappingCuration MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:ManualMappingCuration MONDO:0030913 intellectual disability, autosomal dominant 48 skos:exactMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:ManualMappingCuration MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch OMIM:617752 clark-baraitser syndrome semapv:ManualMappingCuration MONDO:0030915 intellectual disability, autosomal recessive 61 skos:exactMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:ManualMappingCuration MONDO:0030916 intellectual disability, autosomal dominant 50 skos:exactMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:ManualMappingCuration MONDO:0030917 intellectual disability, autosomal dominant 51 skos:exactMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:ManualMappingCuration MONDO:0030918 intellectual disability, autosomal dominant 52 skos:exactMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:ManualMappingCuration MONDO:0030919 intellectual disability, autosomal dominant 53 skos:exactMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:ManualMappingCuration MONDO:0030920 intellectual disability, autosomal dominant 54 skos:exactMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:ManualMappingCuration MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:exactMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:ManualMappingCuration MONDO:0030922 intellectual disability, autosomal dominant 56 skos:exactMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:ManualMappingCuration MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 proteasome-associated autoinflammatory syndrome 5 semapv:ManualMappingCuration MONDO:0030925 oocyte maturation defect 10 skos:exactMatch OMIM:619176 oocyte/zygote/embryo maturation arrest 10 semapv:ManualMappingCuration MONDO:0030926 spermatogenic failure 51 skos:exactMatch OMIM:619177 spermatogenic failure 51 semapv:ManualMappingCuration MONDO:0030927 myofibrillar myopathy 11 skos:exactMatch OMIM:619178 myofibrillar myopathy 11 semapv:ManualMappingCuration MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:exactMatch OMIM:619179 microcephaly 26, primary, autosomal dominant semapv:ManualMappingCuration MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:exactMatch OMIM:619180 microcephaly 27, primary, autosomal dominant semapv:ManualMappingCuration MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch OMIM:619157 neurodevelopmental disorder with or without early-onset generalized epilepsy semapv:ManualMappingCuration MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch OMIM:619183 proteasome-associated autoinflammatory syndrome 4 semapv:ManualMappingCuration MONDO:0030933 Joubert syndrome 37 skos:exactMatch OMIM:619185 joubert syndrome 37 semapv:ManualMappingCuration MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:exactMatch OMIM:619188 intellectual developmental disorder, autosomal dominant 64 semapv:ManualMappingCuration MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:exactMatch OMIM:619166 mitochondrial complex 2 deficiency, nuclear type 2 semapv:ManualMappingCuration MONDO:0030936 epilepsy, progressive myoclonic, 12 skos:exactMatch OMIM:619191 epilepsy, progressive myoclonic, 12 semapv:ManualMappingCuration MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:exactMatch OMIM:619167 mitochondrial complex 2 deficiency, nuclear type 3 semapv:ManualMappingCuration MONDO:0030938 spermatogenic failure 52 skos:exactMatch OMIM:619202 spermatogenic failure 52 semapv:ManualMappingCuration MONDO:0030939 premature ovarian failure 18 skos:exactMatch OMIM:619203 premature ovarian failure 18 semapv:ManualMappingCuration MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch OMIM:619209 erythrokeratodermia variabilis et progressiva 7 semapv:ManualMappingCuration MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch OMIM:619173 ceroid lipofuscinosis, neuronal, 15 semapv:ManualMappingCuration MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:ManualMappingCuration MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:ManualMappingCuration MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:ManualMappingCuration MONDO:0030961 Olmsted syndrome 2 skos:exactMatch OMIM:619208 olmsted syndrome 2 semapv:ManualMappingCuration MONDO:0030962 nephrotic syndrome, type 23 skos:exactMatch OMIM:619201 nephrotic syndrome, type 23 semapv:ManualMappingCuration MONDO:0030963 Li-Campeau syndrome skos:exactMatch OMIM:619189 li-campeau syndrome semapv:ManualMappingCuration MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:ManualMappingCuration MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch OMIM:619194 neurofacioskeletal syndrome with or without renal agenesis semapv:ManualMappingCuration MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch OMIM:619196 deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:ManualMappingCuration MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:ManualMappingCuration MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:ManualMappingCuration MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:ManualMappingCuration MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch OMIM:619220 immunodeficiency 78 with autoimmunity and developmental delay semapv:ManualMappingCuration MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:ManualMappingCuration MONDO:0030973 immunodeficiency 77 skos:exactMatch OMIM:619223 immunodeficiency 77 semapv:ManualMappingCuration MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:exactMatch OMIM:619224 mitochondrial complex 2 deficiency, nuclear type 4 semapv:ManualMappingCuration MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:ManualMappingCuration MONDO:0030976 oculomotor-abducens synkinesis skos:exactMatch OMIM:619215 oculomotor-abducens synkinesis semapv:ManualMappingCuration MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7 semapv:ManualMappingCuration MONDO:0030978 ENDOVE syndrome, limb-only type skos:exactMatch OMIM:619217 endove syndrome, limb-only type semapv:ManualMappingCuration MONDO:0030979 ENDOVE syndrome, limb-brain type skos:exactMatch OMIM:619218 endove syndrome, limb-brain type semapv:ManualMappingCuration MONDO:0030981 immunodeficiency 79 skos:exactMatch OMIM:619238 immunodeficiency 79 semapv:ManualMappingCuration MONDO:0030982 sulfide quinone oxidoreductase deficiency skos:exactMatch OMIM:619221 sulfide:quinone oxidoreductase deficiency semapv:ManualMappingCuration MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, type 2f semapv:ManualMappingCuration MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:ManualMappingCuration MONDO:0030985 premature ovarian failure 19 skos:exactMatch OMIM:619245 premature ovarian failure 19 semapv:ManualMappingCuration MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch OMIM:619226 blistering, acantholytic, of oral and laryngeal mucosa semapv:ManualMappingCuration MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch OMIM:619227 vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:ManualMappingCuration MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch OMIM:619228 developmental delay with dysmorphic facies and dental anomalies semapv:ManualMappingCuration MONDO:0030989 spermatogenic failure 53 skos:exactMatch OMIM:619258 spermatogenic failure 53 semapv:ManualMappingCuration MONDO:0030990 Kohlschutter-Tonz syndrome-like skos:exactMatch OMIM:619229 den hoed-de boer-voisin syndrome semapv:ManualMappingCuration MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch OMIM:619232 hypercholanemia, familial 3 semapv:ManualMappingCuration MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch OMIM:619234 short stature, oligodontia, dysmorphic facies, and motor delay semapv:ManualMappingCuration MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 skos:exactMatch OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:ManualMappingCuration MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch OMIM:619239 neurodevelopmental disorder with or without autism or seizures semapv:ManualMappingCuration MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:exactMatch OMIM:619243 global developmental delay with speech and behavioral abnormalities semapv:ManualMappingCuration MONDO:0030996 bleeding disorder, platelet-type, 24 skos:exactMatch OMIM:619271 bleeding disorder, platelet-type, 24 semapv:ManualMappingCuration MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:exactMatch OMIM:619272 mitochondrial complex 1 deficiency, nuclear type 37 semapv:ManualMappingCuration MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch OMIM:619274 deafness, autosomal dominant 80 semapv:ManualMappingCuration MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch OMIM:619244 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism semapv:ManualMappingCuration MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 skos:exactMatch OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:ManualMappingCuration MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch OMIM:619248 vitreoretinopathy with phalangeal epiphyseal dysplasia semapv:ManualMappingCuration MONDO:0031002 Baralle-Macken syndrome skos:exactMatch OMIM:619255 baralle-macken syndrome semapv:ManualMappingCuration MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch OMIM:619256 hypercholanemia, familial, 2 semapv:ManualMappingCuration MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch OMIM:619259 neurodegeneration with ataxia and late-onset optic atrophy semapv:ManualMappingCuration MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:ManualMappingCuration MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch OMIM:619263 nephrotic syndrome, type 24 semapv:ManualMappingCuration MONDO:0031009 Glanzmann thrombasthenia 2 skos:exactMatch OMIM:619267 glanzmann thrombasthenia 2 semapv:ManualMappingCuration MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes semapv:ManualMappingCuration MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:ManualMappingCuration MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:ManualMappingCuration MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:ManualMappingCuration MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:ManualMappingCuration MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:ManualMappingCuration MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:ManualMappingCuration MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:ManualMappingCuration MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:ManualMappingCuration MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:ManualMappingCuration MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, type 11 semapv:ManualMappingCuration MONDO:0031047 Stickler syndrome, type 6 skos:exactMatch OMIM:620022 stickler syndrome, type 6 semapv:ManualMappingCuration MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:ManualMappingCuration MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:ManualMappingCuration MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:ManualMappingCuration MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:ManualMappingCuration MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, type 26 semapv:ManualMappingCuration MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:ManualMappingCuration MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, type 2ii semapv:ManualMappingCuration MONDO:0031071 Diamond-Blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:ManualMappingCuration MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:ManualMappingCuration MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:ManualMappingCuration MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, type 1k semapv:ManualMappingCuration MONDO:0031332 Glanzmann thrombasthenia 1 skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:ManualMappingCuration MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch OMIM:607748 hypercholanemia, familial 1 semapv:ManualMappingCuration MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 semapv:ManualMappingCuration MONDO:0032485 intellectual developmental disorder 61 skos:exactMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:ManualMappingCuration MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch OMIM:618093 spinocerebellar ataxia 48 semapv:ManualMappingCuration MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:ManualMappingCuration MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:exactMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:ManualMappingCuration MONDO:0032566 squalene synthase deficiency skos:exactMatch OMIM:618156 squalene synthase deficiency semapv:ManualMappingCuration MONDO:0032567 isolated growth hormone deficiency, type 4 skos:exactMatch OMIM:618157 isolated growth hormone deficiency, type 4 semapv:ManualMappingCuration MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:ManualMappingCuration MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch OMIM:618160 pituitary hormone deficiency, combined or isolated, 7 semapv:ManualMappingCuration MONDO:0032570 Joubert syndrome 35 skos:exactMatch OMIM:618161 joubert syndrome 35 semapv:ManualMappingCuration MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type skos:exactMatch OMIM:618162 spondyloepimetaphyseal dysplasia, krakow type semapv:ManualMappingCuration MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:ManualMappingCuration MONDO:0032573 bone marrow failure syndrome 5 skos:exactMatch OMIM:618165 bone marrow failure syndrome 5 semapv:ManualMappingCuration MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:exactMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:ManualMappingCuration MONDO:0032575 diarrhea 9 skos:exactMatch OMIM:618168 diarrhea 9 semapv:ManualMappingCuration MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch OMIM:618173 retinitis pigmentosa 83 semapv:ManualMappingCuration MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:exactMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:ManualMappingCuration MONDO:0032579 warburg-cinotti syndrome skos:exactMatch OMIM:618175 warburg-cinotti syndrome semapv:ManualMappingCuration MONDO:0032580 nephrotic syndrome, type 17 skos:exactMatch OMIM:618176 nephrotic syndrome, type 17 semapv:ManualMappingCuration MONDO:0032581 nephrotic syndrome, type 18 skos:exactMatch OMIM:618177 nephrotic syndrome, type 18 semapv:ManualMappingCuration MONDO:0032582 nephrotic syndrome, type 19 skos:exactMatch OMIM:618178 nephrotic syndrome, type 19 semapv:ManualMappingCuration MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:exactMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch OMIM:618180 ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type semapv:ManualMappingCuration MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:exactMatch OMIM:618183 diarrhea 10, protein-losing enteropathy type semapv:ManualMappingCuration MONDO:0032588 periventricular nodular heterotopia 8 skos:exactMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:ManualMappingCuration MONDO:0032590 ovarian dysgenesis 8 skos:exactMatch OMIM:618187 ovarian dysgenesis 8 semapv:ManualMappingCuration MONDO:0032591 hyperparathyroidism, transient neonatal skos:exactMatch OMIM:618188 hyperparathyroidism, transient neonatal semapv:ManualMappingCuration MONDO:0032592 cardiomyopathy, dilated, 2c skos:exactMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:ManualMappingCuration MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:exactMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:ManualMappingCuration MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:ManualMappingCuration MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:ManualMappingCuration MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch OMIM:618201 developmental and epileptic encephalopathy 68 semapv:ManualMappingCuration MONDO:0032599 immunodeficiency 15a skos:exactMatch OMIM:618204 immunodeficiency 15a semapv:ManualMappingCuration MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch OMIM:618205 snijders blok-campeau syndrome semapv:ManualMappingCuration MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:ManualMappingCuration MONDO:0032603 polydactyly, postaxial, type A9 skos:exactMatch OMIM:618219 polydactyly, postaxial, type a9 semapv:ManualMappingCuration MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch OMIM:618220 retinitis pigmentosa 84 semapv:ManualMappingCuration MONDO:0032605 intellectual disability, autosomal recessive 66 skos:exactMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:ManualMappingCuration MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:exactMatch OMIM:618222 mitochondrial complex 1 deficiency, nuclear type 2 semapv:ManualMappingCuration MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:exactMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:ManualMappingCuration MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:exactMatch OMIM:618224 mitochondrial complex 1 deficiency, nuclear type 3 semapv:ManualMappingCuration MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:exactMatch OMIM:618225 mitochondrial complex 1 deficiency, nuclear type 4 semapv:ManualMappingCuration MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:exactMatch OMIM:618226 mitochondrial complex 1 deficiency, nuclear type 5 semapv:ManualMappingCuration MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:exactMatch OMIM:618228 mitochondrial complex 1 deficiency, nuclear type 6 semapv:ManualMappingCuration MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:exactMatch OMIM:618229 mitochondrial complex 1 deficiency, nuclear type 7 semapv:ManualMappingCuration MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:exactMatch OMIM:618230 mitochondrial complex 1 deficiency, nuclear type 8 semapv:ManualMappingCuration MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:exactMatch OMIM:618232 mitochondrial complex 1 deficiency, nuclear type 9 semapv:ManualMappingCuration MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:exactMatch OMIM:618233 mitochondrial complex 1 deficiency, nuclear type 10 semapv:ManualMappingCuration MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:exactMatch OMIM:618234 mitochondrial complex 1 deficiency, nuclear type 11 semapv:ManualMappingCuration MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:exactMatch OMIM:618235 mitochondrial complex 1 deficiency, nuclear type 13 semapv:ManualMappingCuration MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:exactMatch OMIM:618236 mitochondrial complex 1 deficiency, nuclear type 14 semapv:ManualMappingCuration MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:exactMatch OMIM:618237 mitochondrial complex 1 deficiency, nuclear type 15 semapv:ManualMappingCuration MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:exactMatch OMIM:618238 mitochondrial complex 1 deficiency, nuclear type 16 semapv:ManualMappingCuration MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 skos:exactMatch OMIM:618239 mitochondrial complex 1 deficiency, nuclear type 17 semapv:ManualMappingCuration MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:exactMatch OMIM:618240 mitochondrial complex 1 deficiency, nuclear type 18 semapv:ManualMappingCuration MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:exactMatch OMIM:618241 mitochondrial complex 1 deficiency, nuclear type 19 semapv:ManualMappingCuration MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:exactMatch OMIM:618242 mitochondrial complex 1 deficiency, nuclear type 21 semapv:ManualMappingCuration MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 skos:exactMatch OMIM:618243 mitochondrial complex 1 deficiency, nuclear type 22 semapv:ManualMappingCuration MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 skos:exactMatch OMIM:618244 mitochondrial complex 1 deficiency, nuclear type 23 semapv:ManualMappingCuration MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:exactMatch OMIM:618245 mitochondrial complex 1 deficiency, nuclear type 24 semapv:ManualMappingCuration MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:exactMatch OMIM:618246 mitochondrial complex 1 deficiency, nuclear type 25 semapv:ManualMappingCuration MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 skos:exactMatch OMIM:618247 mitochondrial complex 1 deficiency, nuclear type 26 semapv:ManualMappingCuration MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 skos:exactMatch OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 semapv:ManualMappingCuration MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 skos:exactMatch OMIM:618249 mitochondrial complex 1 deficiency, nuclear type 28 semapv:ManualMappingCuration MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:exactMatch OMIM:618250 mitochondrial complex 1 deficiency, nuclear type 29 semapv:ManualMappingCuration MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:exactMatch OMIM:618251 mitochondrial complex 1 deficiency, nuclear type 31 semapv:ManualMappingCuration MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:exactMatch OMIM:618252 mitochondrial complex 1 deficiency, nuclear type 32 semapv:ManualMappingCuration MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:exactMatch OMIM:618253 mitochondrial complex 1 deficiency, nuclear type 33 semapv:ManualMappingCuration MONDO:0032637 ciliary dyskinesia, primary, 39 skos:exactMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:ManualMappingCuration MONDO:0032639 hearing loss, autosomal recessive 112 skos:exactMatch OMIM:618257 deafness, autosomal recessive 112 semapv:ManualMappingCuration MONDO:0032641 mirror movements 4 skos:exactMatch OMIM:618264 mirror movements 4 semapv:ManualMappingCuration MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:exactMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:ManualMappingCuration MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch OMIM:618266 pontocerebellar hypoplasia, type 12 semapv:ManualMappingCuration MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:ManualMappingCuration MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:exactMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:exactMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:ManualMappingCuration MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:ManualMappingCuration MONDO:0032649 hypotrichosis 14 skos:exactMatch OMIM:618275 hypotrichosis 14 semapv:ManualMappingCuration MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:exactMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:ManualMappingCuration MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:exactMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:ManualMappingCuration MONDO:0032653 cardiac-urogenital syndrome skos:exactMatch OMIM:618280 cardiac-urogenital syndrome semapv:ManualMappingCuration MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:exactMatch OMIM:618282 hyper-ige syndrome 3, autosomal recessive, with recurrent infections semapv:ManualMappingCuration MONDO:0032655 visual impairment and progressive phthisis bulbi skos:exactMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:ManualMappingCuration MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:exactMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:ManualMappingCuration MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch OMIM:618285 developmental and epileptic encephalopathy 69 semapv:ManualMappingCuration MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:exactMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:ManualMappingCuration MONDO:0032659 mucocutaneous ulceration, chronic skos:exactMatch OMIM:618287 autoinflammatory disease, familial, behcet-like 3 semapv:ManualMappingCuration MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:ManualMappingCuration MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:ManualMappingCuration MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:exactMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:ManualMappingCuration MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch OMIM:618298 developmental and epileptic encephalopathy 70 semapv:ManualMappingCuration MONDO:0032664 ciliary dyskinesia, primary, 40 skos:exactMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:ManualMappingCuration MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:exactMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:ManualMappingCuration MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch OMIM:618307 immunodeficiency 129 semapv:ManualMappingCuration MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch OMIM:618309 immunodeficiency 130 with hpv-related verrucosis semapv:ManualMappingCuration MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch OMIM:618310 diamond-blackfan anemia 18 semapv:ManualMappingCuration MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch OMIM:618312 diamond-blackfan anemia 19 semapv:ManualMappingCuration MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch OMIM:618313 diamond-blackfan anemia 20 semapv:ManualMappingCuration MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:exactMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:ManualMappingCuration MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:exactMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:ManualMappingCuration MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:ManualMappingCuration MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:ManualMappingCuration MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch OMIM:618328 developmental and epileptic encephalopathy 71 semapv:ManualMappingCuration MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:exactMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:ManualMappingCuration MONDO:0032680 global developmental delay with or without impaired intellectual development skos:exactMatch OMIM:618330 neurodevelopmental disorder with developmental delay and with or without motor or speech delay semapv:ManualMappingCuration MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:exactMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:ManualMappingCuration MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:exactMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:ManualMappingCuration MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch OMIM:618339 CASGID syndrome semapv:ManualMappingCuration MONDO:0032686 spermatogenic failure 35 skos:exactMatch OMIM:618341 spermatogenic failure 35 semapv:ManualMappingCuration MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:ManualMappingCuration MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:exactMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:ManualMappingCuration MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch OMIM:618345 retinitis pigmentosa 85 semapv:ManualMappingCuration MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:ManualMappingCuration MONDO:0032691 Galloway-Mowat syndrome 6 skos:exactMatch OMIM:618347 galloway-mowat syndrome 6 semapv:ManualMappingCuration MONDO:0032692 Galloway-Mowat syndrome 7 skos:exactMatch OMIM:618348 galloway-mowat syndrome 7 semapv:ManualMappingCuration MONDO:0032693 Galloway-Mowat syndrome 8 skos:exactMatch OMIM:618349 galloway-mowat syndrome 8 semapv:ManualMappingCuration MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:exactMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0032696 oocyte maturation defect 6 skos:exactMatch OMIM:618353 oocyte/zygote/embryo maturation arrest 6 semapv:ManualMappingCuration MONDO:0032697 Houge-Janssens syndrome 3 skos:exactMatch OMIM:618354 houge-janssens syndrome 3 semapv:ManualMappingCuration MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:ManualMappingCuration MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:exactMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:ManualMappingCuration MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch OMIM:618362 coffin-siris syndrome 8 semapv:ManualMappingCuration MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:exactMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:ManualMappingCuration MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch OMIM:618367 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination semapv:ManualMappingCuration MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:exactMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:ManualMappingCuration MONDO:0032707 turnpenny-fry syndrome skos:exactMatch OMIM:618371 turnpenny-fry syndrome semapv:ManualMappingCuration MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch OMIM:618374 developmental and epileptic encephalopathy 72 semapv:ManualMappingCuration MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:exactMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:ManualMappingCuration MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:exactMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:ManualMappingCuration MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities semapv:ManualMappingCuration MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:ManualMappingCuration MONDO:0032717 amelogenesis imperfecta, type 3C skos:exactMatch OMIM:618386 amelogenesis imperfecta, type 3c semapv:ManualMappingCuration MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:exactMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu type semapv:ManualMappingCuration MONDO:0032723 immunodeficiency 60 skos:exactMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:ManualMappingCuration MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch OMIM:618395 spondyloepimetaphyseal dysplasia with joint laxity, type 3 semapv:ManualMappingCuration MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch OMIM:618396 developmental and epileptic encephalopathy 74 semapv:ManualMappingCuration MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:exactMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:ManualMappingCuration MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE skos:exactMatch OMIM:618400 charcot-marie-tooth disease, axonal, type 2ee semapv:ManualMappingCuration MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:ManualMappingCuration MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:exactMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:ManualMappingCuration MONDO:0032732 hearing loss, autosomal recessive 113 skos:exactMatch OMIM:618410 deafness, autosomal recessive 113 semapv:ManualMappingCuration MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:exactMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:ManualMappingCuration MONDO:0032735 cataract 48 skos:exactMatch OMIM:618415 cataract 48 semapv:ManualMappingCuration MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:exactMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:ManualMappingCuration MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:ManualMappingCuration MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:exactMatch OMIM:618419 myoectodermal gonadal dysgenesis syndrome semapv:ManualMappingCuration MONDO:0032739 spermatogenic failure 36 skos:exactMatch OMIM:618420 spermatogenic failure 36 semapv:ManualMappingCuration MONDO:0032740 hearing loss, autosomal recessive 100 skos:exactMatch OMIM:618422 deafness, autosomal recessive 100 semapv:ManualMappingCuration MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:exactMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:ManualMappingCuration MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:exactMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:ManualMappingCuration MONDO:0032744 spermatogenic failure 37 skos:exactMatch OMIM:618429 spermatogenic failure 37 semapv:ManualMappingCuration MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:ManualMappingCuration MONDO:0032746 hydatidiform mole, recurrent, 3 skos:exactMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:ManualMappingCuration MONDO:0032747 hydatidiform mole, recurrent, 4 skos:exactMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:ManualMappingCuration MONDO:0032748 spermatogenic failure 38 skos:exactMatch OMIM:618433 spermatogenic failure 38 semapv:ManualMappingCuration MONDO:0032749 hearing loss, autosomal recessive 94 skos:exactMatch OMIM:618434 deafness, autosomal recessive 94 semapv:ManualMappingCuration MONDO:0032750 arthrogryposis, distal, type 2B2 skos:exactMatch OMIM:618435 arthrogryposis, distal, type 2b2 semapv:ManualMappingCuration MONDO:0032751 arthrogryposis, distal, type 2B3 skos:exactMatch OMIM:618436 arthrogryposis, distal, type 2b3 semapv:ManualMappingCuration MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch OMIM:618437 developmental and epileptic encephalopathy 75 semapv:ManualMappingCuration MONDO:0032753 spastic ataxia 9, autosomal recessive skos:exactMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:ManualMappingCuration MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:exactMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:ManualMappingCuration MONDO:0032756 long qt syndrome 8 skos:exactMatch OMIM:618447 long qt syndrome 8 semapv:ManualMappingCuration MONDO:0032757 ciliary dyskinesia, primary, 41 skos:exactMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:ManualMappingCuration MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:exactMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:ManualMappingCuration MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:exactMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:ManualMappingCuration MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:exactMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:ManualMappingCuration MONDO:0032761 hearing loss, autosomal recessive 114 skos:exactMatch OMIM:618456 deafness, autosomal recessive 114 semapv:ManualMappingCuration MONDO:0032762 hearing loss, autosomal recessive 115 skos:exactMatch OMIM:618457 deafness, autosomal recessive 115 semapv:ManualMappingCuration MONDO:0032763 immunodeficiency 62 skos:exactMatch OMIM:618459 immunodeficiency 62 semapv:ManualMappingCuration MONDO:0032764 Khan-Khan-Katsanis syndrome skos:exactMatch OMIM:618460 khan-khan-katsanis syndrome semapv:ManualMappingCuration MONDO:0032765 bleeding disorder, platelet-type, 22 skos:exactMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:ManualMappingCuration MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:exactMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:ManualMappingCuration MONDO:0032767 paragangliomas 6 skos:exactMatch OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 semapv:ManualMappingCuration MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch OMIM:618468 developmental and epileptic encephalopathy 76 semapv:ManualMappingCuration MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:ManualMappingCuration MONDO:0032771 paragangliomas 7 skos:exactMatch OMIM:618475 pheochromocytoma/paraganglioma syndrome 7 semapv:ManualMappingCuration MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:exactMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:ManualMappingCuration MONDO:0032773 uridine-cytidineuria skos:exactMatch OMIM:618477 uridine-cytidineuria semapv:ManualMappingCuration MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:ManualMappingCuration MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:ManualMappingCuration MONDO:0032776 hearing loss, autosomal recessive 99 skos:exactMatch OMIM:618481 deafness, autosomal recessive 99 semapv:ManualMappingCuration MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch OMIM:618482 generalized epilepsy with febrile seizures plus, type 10 semapv:ManualMappingCuration MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:exactMatch OMIM:618484 arthrogryposis multiplex congenita 3, myogenic type semapv:ManualMappingCuration MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:exactMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:ManualMappingCuration MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:exactMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:ManualMappingCuration MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:exactMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:ManualMappingCuration MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:ManualMappingCuration MONDO:0032783 aortic valve disease 3 skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:ManualMappingCuration MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:exactMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:ManualMappingCuration MONDO:0032785 polydactyly, postaxial, type a10 skos:exactMatch OMIM:618498 polydactyly, postaxial, type a10 semapv:ManualMappingCuration MONDO:0032786 Noonan syndrome 11 skos:exactMatch OMIM:618499 noonan syndrome 11 semapv:ManualMappingCuration MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:ManualMappingCuration MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:exactMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:ManualMappingCuration MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:ManualMappingCuration MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch OMIM:618505 stolerman neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:ManualMappingCuration MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy skos:exactMatch OMIM:618511 neuropathy, hereditary motor and sensory, type vic, with optic atrophy semapv:ManualMappingCuration MONDO:0032793 O'Donnell-Luria-Rodan syndrome skos:exactMatch OMIM:618512 o'donnell-luria-rodan syndrome semapv:ManualMappingCuration MONDO:0032794 leber congenital amaurosis 19 skos:exactMatch OMIM:618513 leber congenital amaurosis 19 semapv:ManualMappingCuration MONDO:0032795 intellectual developmental disorder 59 skos:exactMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:ManualMappingCuration MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:exactMatch OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections semapv:ManualMappingCuration MONDO:0032797 myopathy, congenital, with tremor skos:exactMatch OMIM:618524 congenital myopathy 16 semapv:ManualMappingCuration MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:ManualMappingCuration MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:ManualMappingCuration MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:ManualMappingCuration MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch OMIM:618533 deafness, autosomal dominant 37 semapv:ManualMappingCuration MONDO:0032803 immunodeficiency 64 skos:exactMatch OMIM:618534 immunodeficiency 64 with lymphoproliferation semapv:ManualMappingCuration MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch OMIM:618535 ectodermal dysplasia 15, hypohidrotic/hair type semapv:ManualMappingCuration MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:exactMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:ManualMappingCuration MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:ManualMappingCuration MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:exactMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:ManualMappingCuration MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:exactMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:ManualMappingCuration MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:exactMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:ManualMappingCuration MONDO:0032810 oocyte maturation defect 7 skos:exactMatch OMIM:618550 oocyte/zygote/embryo maturation arrest 7 semapv:ManualMappingCuration MONDO:0032811 night blindness, congenital stationary, type1i skos:exactMatch OMIM:618555 night blindness, congenital stationary, type1i semapv:ManualMappingCuration MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch OMIM:618557 developmental and epileptic encephalopathy 78 semapv:ManualMappingCuration MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch OMIM:618559 developmental and epileptic encephalopathy 79 semapv:ManualMappingCuration MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:ManualMappingCuration MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:ManualMappingCuration MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:ManualMappingCuration MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:ManualMappingCuration MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:exactMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:ManualMappingCuration MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:ManualMappingCuration MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:ManualMappingCuration MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:exactMatch OMIM:618578 congenital myopathy 19 semapv:ManualMappingCuration MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch OMIM:618580 developmental and epileptic encephalopathy 80 semapv:ManualMappingCuration MONDO:0032823 intellectual developmental disorder 60 with seizures skos:exactMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:ManualMappingCuration MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:exactMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:ManualMappingCuration MONDO:0032826 nephrotic syndrome, type 21 skos:exactMatch OMIM:618594 nephrotic syndrome, type 21 semapv:ManualMappingCuration MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 semapv:ManualMappingCuration MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:exactMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:ManualMappingCuration MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:exactMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:ManualMappingCuration MONDO:0032830 snijders blok-fisher syndrome skos:exactMatch OMIM:618604 snijders blok-fisher syndrome semapv:ManualMappingCuration MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch OMIM:618606 pontocerebellar hypoplasia, type 13 semapv:ManualMappingCuration MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:ManualMappingCuration MONDO:0032833 lower urinary tract obstruction, congenital skos:exactMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:ManualMappingCuration MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch OMIM:618613 retinitis pigmentosa 86 semapv:ManualMappingCuration MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:exactMatch OMIM:618618 spondyloepiphyseal dysplasia, nishimura type semapv:ManualMappingCuration MONDO:0032836 Weiss-Kruszka syndrome skos:exactMatch OMIM:618619 weiss-kruszka syndrome semapv:ManualMappingCuration MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:ManualMappingCuration MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:ManualMappingCuration MONDO:0032839 noonan syndrome 12 skos:exactMatch OMIM:618624 noonan syndrome 12 semapv:ManualMappingCuration MONDO:0032841 Usher syndrome, type 1M skos:exactMatch OMIM:618632 usher syndrome, type 1m semapv:ManualMappingCuration MONDO:0032842 Siddiqi syndrome skos:exactMatch OMIM:618635 siddiqi syndrome semapv:ManualMappingCuration MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:ManualMappingCuration MONDO:0032844 infantile liver failure syndrome 3 skos:exactMatch OMIM:618641 infantile liver failure syndrome 3 semapv:ManualMappingCuration MONDO:0032845 spermatogenic failure 39 skos:exactMatch OMIM:618643 spermatogenic failure 39 semapv:ManualMappingCuration MONDO:0032846 osteogenesis imperfecta, type 20 skos:exactMatch OMIM:618644 osteogenesis imperfecta, type 20 semapv:ManualMappingCuration MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:ManualMappingCuration MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch OMIM:618651 halperin-birk syndrome semapv:ManualMappingCuration MONDO:0032850 neurooculocardiogenitourinary syndrome skos:exactMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:ManualMappingCuration MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:ManualMappingCuration MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:exactMatch OMIM:618654 congenital myopathy 8 semapv:ManualMappingCuration MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:exactMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:ManualMappingCuration MONDO:0032854 zimmermann-laband syndrome 3 skos:exactMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:ManualMappingCuration MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:ManualMappingCuration MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:exactMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:ManualMappingCuration MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch OMIM:618663 developmental and epileptic encephalopathy 81 semapv:ManualMappingCuration MONDO:0032859 spermatogenic failure 40 skos:exactMatch OMIM:618664 spermatogenic failure 40 semapv:ManualMappingCuration MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:ManualMappingCuration MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:exactMatch OMIM:618667 hydrocephalus, congenital, 4 semapv:ManualMappingCuration MONDO:0032863 spermatogenic failure 41 skos:exactMatch OMIM:618670 spermatogenic failure 41 semapv:ManualMappingCuration MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:ManualMappingCuration MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:exactMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 semapv:ManualMappingCuration MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:exactMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:ManualMappingCuration MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:exactMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0032868 lessel-kubisch syndrome skos:exactMatch OMIM:618681 lessel-kubisch syndrome semapv:ManualMappingCuration MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:exactMatch OMIM:618683 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 semapv:ManualMappingCuration MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:ManualMappingCuration MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:exactMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:ManualMappingCuration MONDO:0032872 ciliary dyskinesia, primary, 42 skos:exactMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:ManualMappingCuration MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:ManualMappingCuration MONDO:0032874 ciliary dyskinesia, primary, 43 skos:exactMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:ManualMappingCuration MONDO:0032875 short stature and microcephaly with genital anomalies skos:exactMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:ManualMappingCuration MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:ManualMappingCuration MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:exactMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:ManualMappingCuration MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:ManualMappingCuration MONDO:0032879 megabladder, congenital skos:exactMatch OMIM:618719 megabladder, congenital semapv:ManualMappingCuration MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:ManualMappingCuration MONDO:0032881 premature ovarian failure 16 skos:exactMatch OMIM:618723 premature ovarian failure 16 semapv:ManualMappingCuration MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:exactMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:ManualMappingCuration MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:ManualMappingCuration MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:ManualMappingCuration MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:exactMatch OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain type semapv:ManualMappingCuration MONDO:0032886 Liang-Wang syndrome skos:exactMatch OMIM:618729 liang-wang syndrome semapv:ManualMappingCuration MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:ManualMappingCuration MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:ManualMappingCuration MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:exactMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures skos:exactMatch OMIM:618733 neuromuscular oculoauditory syndrome semapv:ManualMappingCuration MONDO:0032891 aneurysm, intracranial berry, 12 skos:exactMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:ManualMappingCuration MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:ManualMappingCuration MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 semapv:ManualMappingCuration MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:ManualMappingCuration MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch OMIM:618744 developmental and epileptic encephalopathy 83 semapv:ManualMappingCuration MONDO:0032896 spermatogenic failure 42 skos:exactMatch OMIM:618745 spermatogenic failure 42 semapv:ManualMappingCuration MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:ManualMappingCuration MONDO:0032898 spermatogenic failure 43 skos:exactMatch OMIM:618751 spermatogenic failure 43 semapv:ManualMappingCuration MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:ManualMappingCuration MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:ManualMappingCuration MONDO:0032901 Catifa syndrome skos:exactMatch OMIM:618761 CATIFA syndrome semapv:ManualMappingCuration MONDO:0032902 Joubert syndrome 36 skos:exactMatch OMIM:618763 joubert syndrome 36 semapv:ManualMappingCuration MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum semapv:ManualMappingCuration MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:ManualMappingCuration MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:exactMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:ManualMappingCuration MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:ManualMappingCuration MONDO:0032907 lymphatic malformation 8 skos:exactMatch OMIM:618773 lymphatic malformation 8 semapv:ManualMappingCuration MONDO:0032908 CEBALID syndrome skos:exactMatch OMIM:618774 CEBALID syndrome semapv:ManualMappingCuration MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:exactMatch OMIM:618775 mitochondrial complex 3 deficiency, nuclear type 10 semapv:ManualMappingCuration MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:exactMatch OMIM:618776 mitochondrial complex 1 deficiency, nuclear type 34 semapv:ManualMappingCuration MONDO:0032911 hearing loss, autosomal dominant 75 skos:exactMatch OMIM:618778 deafness, autosomal dominant 75 semapv:ManualMappingCuration MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch OMIM:618779 coffin-siris syndrome 11 semapv:ManualMappingCuration MONDO:0032913 congenital heart defects, multiple types, 7 skos:exactMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:ManualMappingCuration MONDO:0032914 ciliary dyskinesia, primary, 44 skos:exactMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:ManualMappingCuration MONDO:0032915 long QT syndrome 16 skos:exactMatch OMIM:618782 long qt syndrome 16 semapv:ManualMappingCuration MONDO:0032916 Imagawa-Matsumoto syndrome skos:exactMatch OMIM:618786 imagawa-matsumoto syndrome semapv:ManualMappingCuration MONDO:0032917 hearing loss, autosomal dominant 76 skos:exactMatch OMIM:618787 deafness, autosomal dominant 76 semapv:ManualMappingCuration MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch OMIM:618792 developmental and epileptic encephalopathy 84 semapv:ManualMappingCuration MONDO:0032919 intellectual developmental disorder 62 skos:exactMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:ManualMappingCuration MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:exactMatch OMIM:618795 juvenile arthritis semapv:ManualMappingCuration MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:ManualMappingCuration MONDO:0032922 Beck-Fahrner syndrome skos:exactMatch OMIM:618798 beck-fahrner syndrome semapv:ManualMappingCuration MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:ManualMappingCuration MONDO:0032924 ciliary dyskinesia, primary, 45 skos:exactMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:ManualMappingCuration MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:ManualMappingCuration MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch OMIM:618804 sandestig-stefanova syndrome semapv:ManualMappingCuration MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:exactMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:ManualMappingCuration MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:ManualMappingCuration MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:ManualMappingCuration MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:ManualMappingCuration MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:ManualMappingCuration MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:ManualMappingCuration MONDO:0032934 genitourinary and/or brain malformation syndrome skos:exactMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:ManualMappingCuration MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:exactMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:ManualMappingCuration MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:exactMatch OMIM:618822 congenital myopathy 9a semapv:ManualMappingCuration MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:exactMatch OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions semapv:ManualMappingCuration MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:ManualMappingCuration MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:ManualMappingCuration MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch OMIM:618826 retinitis pigmentosa 88 semapv:ManualMappingCuration MONDO:0032941 myopia 27 skos:exactMatch OMIM:618827 myopia 27, autosomal dominant semapv:ManualMappingCuration MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:exactMatch OMIM:618828 nabais sa-de vries syndrome, type 1 semapv:ManualMappingCuration MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:exactMatch OMIM:618829 nabais sa-de vries syndrome, type 2 semapv:ManualMappingCuration MONDO:0033004 polycystic kidney disease 4 skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:ManualMappingCuration MONDO:0033005 Galloway-Mowat syndrome 1 skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:ManualMappingCuration MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:exactMatch OMIM:301006 galloway-mowat syndrome 2, X-linked semapv:ManualMappingCuration MONDO:0033007 Galloway-Mowat syndrome 3 skos:exactMatch OMIM:617729 galloway-mowat syndrome 3 semapv:ManualMappingCuration MONDO:0033008 Galloway-Mowat syndrome 4 skos:exactMatch OMIM:617730 galloway-mowat syndrome 4 semapv:ManualMappingCuration MONDO:0033009 Galloway-Mowat syndrome 5 skos:exactMatch OMIM:617731 galloway-mowat syndrome 5 semapv:ManualMappingCuration MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:ManualMappingCuration MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:ManualMappingCuration MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:ManualMappingCuration MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:ManualMappingCuration MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:ManualMappingCuration MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch OMIM:617560 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy semapv:ManualMappingCuration MONDO:0033044 Meckel syndrome 13 skos:exactMatch OMIM:617562 meckel syndrome 13 semapv:ManualMappingCuration MONDO:0033045 orofaciodigital syndrome 16 skos:exactMatch OMIM:617563 orofaciodigital syndrome 16 semapv:ManualMappingCuration MONDO:0033046 Meier-Gorlin syndrome 8 skos:exactMatch OMIM:617564 meier-gorlin syndrome 8 semapv:ManualMappingCuration MONDO:0033047 Perrault syndrome 6 skos:exactMatch OMIM:617565 perrault syndrome 6 semapv:ManualMappingCuration MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch OMIM:617571 ichthyosis, congenital, autosomal recessive 14 semapv:ManualMappingCuration MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch OMIM:617574 ichthyosis, congenital, autosomal recessive 13 semapv:ManualMappingCuration MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch OMIM:617584 spinocerebellar ataxia, autosomal recessive 25 semapv:ManualMappingCuration MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 semapv:ManualMappingCuration MONDO:0033123 exudative vitreoretinopathy 7 skos:exactMatch OMIM:617572 exudative vitreoretinopathy 7 semapv:ManualMappingCuration MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch OMIM:618279 charcot-marie-tooth disease, demyelinating, type 1g semapv:ManualMappingCuration MONDO:0033198 hearing loss, autosomal recessive 106 skos:exactMatch OMIM:617637 deafness, autosomal recessive 106 semapv:ManualMappingCuration MONDO:0033199 hearing loss, autosomal recessive 107 skos:exactMatch OMIM:617639 deafness, autosomal recessive 107 semapv:ManualMappingCuration MONDO:0033200 hearing loss, autosomal recessive 108 skos:exactMatch OMIM:617654 deafness, autosomal recessive 108 semapv:ManualMappingCuration MONDO:0033201 hearing loss, autosomal recessive 57 skos:exactMatch OMIM:618003 deafness, autosomal recessive 57 semapv:ManualMappingCuration MONDO:0033202 hearing loss, autosomal recessive 109 skos:exactMatch OMIM:618013 deafness, autosomal recessive 109 semapv:ManualMappingCuration MONDO:0033203 nephrotic syndrome 14 skos:exactMatch OMIM:617575 RENI syndrome semapv:ManualMappingCuration MONDO:0033204 ciliary dyskinesia, primary, 37 skos:exactMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:ManualMappingCuration MONDO:0033258 hearing loss, autosomal dominant 71 skos:exactMatch OMIM:617605 deafness, autosomal dominant 71 semapv:ManualMappingCuration MONDO:0033259 hearing loss, autosomal dominant 72 skos:exactMatch OMIM:617606 deafness, autosomal dominant 72 semapv:ManualMappingCuration MONDO:0033260 hearing loss, autosomal dominant 73 skos:exactMatch OMIM:617663 deafness, autosomal dominant 73 semapv:ManualMappingCuration MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:exactMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:ManualMappingCuration MONDO:0033262 nephrotic syndrome 15 skos:exactMatch OMIM:617609 nephrotic syndrome, type 15 semapv:ManualMappingCuration MONDO:0033280 nephrotic syndrome 16 skos:exactMatch OMIM:617783 nephrotic syndrome, type 16 semapv:ManualMappingCuration MONDO:0033281 polycystic kidney disease 5 skos:exactMatch OMIM:617610 polycystic kidney disease 5 semapv:ManualMappingCuration MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 semapv:ManualMappingCuration MONDO:0033308 Joubert syndrome 30 skos:exactMatch OMIM:617622 joubert syndrome 30 semapv:ManualMappingCuration MONDO:0033309 Joubert syndrome 32 skos:exactMatch OMIM:617757 joubert syndrome 32 semapv:ManualMappingCuration MONDO:0033310 Joubert syndrome 31 skos:exactMatch OMIM:617761 joubert syndrome 31 semapv:ManualMappingCuration MONDO:0033311 Joubert syndrome 33 skos:exactMatch OMIM:617767 joubert syndrome 33 semapv:ManualMappingCuration MONDO:0033312 schizophrenia 19 skos:exactMatch OMIM:617629 schizophrenia 19 semapv:ManualMappingCuration MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:exactMatch OMIM:617350 developmental and epileptic encephalopathy 52 semapv:ManualMappingCuration MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:exactMatch OMIM:617389 developmental and epileptic encephalopathy 53 semapv:ManualMappingCuration MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:exactMatch OMIM:617391 developmental and epileptic encephalopathy 54 semapv:ManualMappingCuration MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:exactMatch OMIM:617599 developmental and epileptic encephalopathy 55 semapv:ManualMappingCuration MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:exactMatch OMIM:617665 developmental and epileptic encephalopathy 56 semapv:ManualMappingCuration MONDO:0033366 developmental and epileptic encephalopathy, 57 skos:exactMatch OMIM:617771 developmental and epileptic encephalopathy 57 semapv:ManualMappingCuration MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:exactMatch OMIM:617830 developmental and epileptic encephalopathy 58 semapv:ManualMappingCuration MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:exactMatch OMIM:617904 developmental and epileptic encephalopathy 59 semapv:ManualMappingCuration MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:exactMatch OMIM:617929 developmental and epileptic encephalopathy 60 semapv:ManualMappingCuration MONDO:0033370 developmental and epileptic encephalopathy, 61 skos:exactMatch OMIM:617933 developmental and epileptic encephalopathy 61 semapv:ManualMappingCuration MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:exactMatch OMIM:617938 developmental and epileptic encephalopathy 62 semapv:ManualMappingCuration MONDO:0033372 developmental and epileptic encephalopathy, 63 skos:exactMatch OMIM:617976 developmental and epileptic encephalopathy 63 semapv:ManualMappingCuration MONDO:0033373 developmental and epileptic encephalopathy, 64 skos:exactMatch OMIM:618004 developmental and epileptic encephalopathy 64 semapv:ManualMappingCuration MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:exactMatch OMIM:618008 developmental and epileptic encephalopathy 65 semapv:ManualMappingCuration MONDO:0033375 orofaciodigital syndrome 17 skos:exactMatch OMIM:617926 orofaciodigital syndrome 17 semapv:ManualMappingCuration MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch OMIM:617691 spinocerebellar ataxia 44 semapv:ManualMappingCuration MONDO:0033480 spinocerebellar ataxia 45 skos:exactMatch OMIM:617769 spinocerebellar ataxia 45 semapv:ManualMappingCuration MONDO:0033481 spinocerebellar ataxia 46 skos:exactMatch OMIM:617770 spinocerebellar ataxia 46 semapv:ManualMappingCuration MONDO:0033483 erythrocytosis, familial, 5 skos:exactMatch OMIM:617907 erythrocytosis, familial, 5 semapv:ManualMappingCuration MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch OMIM:617895 short-rib thoracic dysplasia 19 with or without polydactyly semapv:ManualMappingCuration MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:exactMatch OMIM:617899 leukodystrophy, hypomyelinating, 14 semapv:ManualMappingCuration MONDO:0033492 Coffin-Siris syndrome 6 skos:exactMatch OMIM:617808 coffin-siris syndrome 6 semapv:ManualMappingCuration MONDO:0033493 fibromatosis, gingival, 5 skos:exactMatch OMIM:617626 fibromatosis, gingival, 5 semapv:ManualMappingCuration MONDO:0033532 Suleiman-El-Hattab syndrome skos:exactMatch OMIM:618950 suleiman-el-hattab syndrome semapv:ManualMappingCuration MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:exactMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:ManualMappingCuration MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:exactMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:ManualMappingCuration MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:exactMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:ManualMappingCuration MONDO:0033541 immunodeficiency 69 skos:exactMatch OMIM:618963 immunodeficiency 69 semapv:ManualMappingCuration MONDO:0033542 immunodeficiency 70 skos:exactMatch OMIM:618969 immunodeficiency 70 semapv:ManualMappingCuration MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:ManualMappingCuration MONDO:0033544 Tolchin-Le Caignec syndrome skos:exactMatch OMIM:618971 tolchin-le caignec syndrome semapv:ManualMappingCuration MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:ManualMappingCuration MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:exactMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:ManualMappingCuration MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:exactMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:ManualMappingCuration MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:exactMatch OMIM:618975 congenital myopathy 17 semapv:ManualMappingCuration MONDO:0033549 optic atrophy 12 skos:exactMatch OMIM:618977 optic atrophy 12 semapv:ManualMappingCuration MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:ManualMappingCuration MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation semapv:ManualMappingCuration MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:ManualMappingCuration MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:ManualMappingCuration MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:ManualMappingCuration MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 skos:exactMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 semapv:ManualMappingCuration MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:exactMatch OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome semapv:ManualMappingCuration MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:ManualMappingCuration MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:exactMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:ManualMappingCuration MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:exactMatch OMIM:619003 mitochondrial complex 1 deficiency, nuclear type 35 semapv:ManualMappingCuration MONDO:0033561 deeah syndrome skos:exactMatch OMIM:619004 DEEAH syndrome semapv:ManualMappingCuration MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:ManualMappingCuration MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch OMIM:619007 retinitis pigmentosa 90 semapv:ManualMappingCuration MONDO:0033564 oocyte maturation defect 8 skos:exactMatch OMIM:619009 oocyte/zygote/embryo maturation arrest 8 semapv:ManualMappingCuration MONDO:0033565 oocyte maturation defect 9 skos:exactMatch OMIM:619011 oocyte/zygote/embryo maturation arrest 9 semapv:ManualMappingCuration MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:ManualMappingCuration MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:ManualMappingCuration MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:ManualMappingCuration MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus semapv:ManualMappingCuration MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:ManualMappingCuration MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities semapv:ManualMappingCuration MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch OMIM:619027 spastic paraplegia 83, autosomal recessive semapv:ManualMappingCuration MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:exactMatch OMIM:619028 coenzyme Q10 deficiency, primary, 9 semapv:ManualMappingCuration MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch OMIM:619033 vissers-bodmer syndrome semapv:ManualMappingCuration MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy semapv:ManualMappingCuration MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch OMIM:619040 myofibrillar myopathy 10 semapv:ManualMappingCuration MONDO:0033621 spinal muscular atrophy, infantile, James type skos:exactMatch OMIM:619042 spinal muscular atrophy, infantile, james type semapv:ManualMappingCuration MONDO:0033622 spermatogenic failure 44 skos:exactMatch OMIM:619044 spermatogenic failure 44 semapv:ManualMappingCuration MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies semapv:ManualMappingCuration MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch OMIM:619057 combined oxidative phosphorylation deficiency 51 semapv:ManualMappingCuration MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:exactMatch OMIM:619046 mitochondrial complex 4 deficiency, nuclear type 3 semapv:ManualMappingCuration MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:exactMatch OMIM:619048 mitochondrial complex 4 deficiency, nuclear type 4 semapv:ManualMappingCuration MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:exactMatch OMIM:619051 mitochondrial complex 4 deficiency, nuclear type 7 semapv:ManualMappingCuration MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:exactMatch OMIM:619052 mitochondrial complex 4 deficiency, nuclear type 8 semapv:ManualMappingCuration MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:exactMatch OMIM:619053 mitochondrial complex 4 deficiency, nuclear type 10 semapv:ManualMappingCuration MONDO:0033640 vitamin D-dependent rickets, type 3 skos:exactMatch OMIM:619073 vitamin d-dependent rickets, type 3 semapv:ManualMappingCuration MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay semapv:ManualMappingCuration MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch OMIM:619075 bachmann-bupp syndrome semapv:ManualMappingCuration MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch OMIM:619079 inflammatory bowel disease (crohn disease) 30 semapv:ManualMappingCuration MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 semapv:ManualMappingCuration MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:exactMatch OMIM:619054 mitochondrial complex 4 deficiency, nuclear type 11 semapv:ManualMappingCuration MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:exactMatch OMIM:619055 mitochondrial complex 4 deficiency, nuclear type 12 semapv:ManualMappingCuration MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:exactMatch OMIM:619058 mitochondrial complex 4 deficiency, nuclear type 14 semapv:ManualMappingCuration MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:exactMatch OMIM:619059 mitochondrial complex 4 deficiency, nuclear type 15 semapv:ManualMappingCuration MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:exactMatch OMIM:619060 mitochondrial complex 4 deficiency, nuclear type 16 semapv:ManualMappingCuration MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:exactMatch OMIM:619061 mitochondrial complex 4 deficiency, nuclear type 17 semapv:ManualMappingCuration MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:exactMatch OMIM:619062 mitochondrial complex 4 deficiency, nuclear type 18 semapv:ManualMappingCuration MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:exactMatch OMIM:619063 mitochondrial complex 4 deficiency, nuclear type 19 semapv:ManualMappingCuration MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:exactMatch OMIM:619064 mitochondrial complex 4 deficiency, nuclear type 20 semapv:ManualMappingCuration MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:exactMatch OMIM:619065 mitochondrial complex 4 deficiency, nuclear type 21 semapv:ManualMappingCuration MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:exactMatch OMIM:619071 leukodystrophy, hypomyelinating, 20 semapv:ManualMappingCuration MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy semapv:ManualMappingCuration MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy semapv:ManualMappingCuration MONDO:0033664 Kilquist syndrome skos:exactMatch OMIM:619080 kilquist syndrome semapv:ManualMappingCuration MONDO:0033665 hearing loss, autosomal dominant 78 skos:exactMatch OMIM:619081 deafness, autosomal dominant 78 semapv:ManualMappingCuration MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch OMIM:619083 delpire-mcneill syndrome semapv:ManualMappingCuration MONDO:0033668 hearing loss, autosomal dominant 79 skos:exactMatch OMIM:619086 deafness, autosomal dominant 79 semapv:ManualMappingCuration MONDO:0033669 Noonan syndrome 13 skos:exactMatch OMIM:619087 noonan syndrome 13 semapv:ManualMappingCuration MONDO:0033670 hearing loss, autosomal recessive 116 skos:exactMatch OMIM:619093 deafness, autosomal recessive 116 semapv:ManualMappingCuration MONDO:0033671 spermatogenic failure 45 skos:exactMatch OMIM:619094 spermatogenic failure 45 semapv:ManualMappingCuration MONDO:0033673 spermatogenic failure 46 skos:exactMatch OMIM:619095 spermatogenic failure 46 semapv:ManualMappingCuration MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch OMIM:618218 baker-gordon syndrome semapv:ManualMappingCuration MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch OMIM:106100 angioedema, hereditary, 1 semapv:ManualMappingCuration MONDO:0034022 Bethlem myopathy 2 skos:exactMatch OMIM:616471 bethlem myopathy 2 semapv:ManualMappingCuration MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:exactMatch OMIM:618261 lymphoproliferative syndrome 3 semapv:ManualMappingCuration MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch OMIM:618379 developmental and epileptic encephalopathy 73 semapv:ManualMappingCuration MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch OMIM:618414 congenital myopathy 14 semapv:ManualMappingCuration MONDO:0034121 NAD(P)HX dehydratase deficiency skos:exactMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:ManualMappingCuration MONDO:0034145 oculocerebrodental syndrome skos:exactMatch OMIM:618440 oculoskeletodental syndrome semapv:ManualMappingCuration MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch OMIM:617991 chung-jansen syndrome semapv:ManualMappingCuration MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome semapv:ManualMappingCuration MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch OMIM:619273 CIMDAG syndrome semapv:ManualMappingCuration MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch OMIM:619318 oculogastrointestinal neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0036193 parkinsonism with polyneuropathy skos:exactMatch OMIM:619279 parkinsonism with polyneuropathy semapv:ManualMappingCuration MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch OMIM:619338 cataracts, spastic paraparesis, and speech delay semapv:ManualMappingCuration MONDO:0036482 retinitis pigmentosa 81 skos:exactMatch OMIM:617871 retinitis pigmentosa 81 semapv:ManualMappingCuration MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch OMIM:617866 short-rib thoracic dysplasia 18 with polydactyly semapv:ManualMappingCuration MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch OMIM:617882 charcot-marie-tooth disease, dominant intermediate g semapv:ManualMappingCuration MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:ManualMappingCuration MONDO:0040501 Ehlers-Danlos syndrome, arthrochalasia type, 2 skos:exactMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:ManualMappingCuration MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch OMIM:617825 glucocorticoid deficiency 5 semapv:ManualMappingCuration MONDO:0040503 blepharocheilodontic syndrome 2 skos:exactMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:ManualMappingCuration MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:exactMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:ManualMappingCuration MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant semapv:ManualMappingCuration MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:exactMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:ManualMappingCuration MONDO:0042975 obsolete pseudoachondroplastic dysplasia 2 skos:exactMatch OMIM:264150 semapv:ManualMappingCuration MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:exactMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:ManualMappingCuration MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, type 1 semapv:ManualMappingCuration MONDO:0043003 familial acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:ManualMappingCuration MONDO:0043364 eosinophil peroxidase deficiency skos:exactMatch OMIM:261500 eosinophil peroxidase deficiency semapv:ManualMappingCuration MONDO:0044204 Shwachman-Diamond syndrome 1 skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:ManualMappingCuration MONDO:0044205 Shwachman-Diamond syndrome 2 skos:exactMatch OMIM:617941 shwachman-diamond syndrome 2 semapv:ManualMappingCuration MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:ManualMappingCuration MONDO:0044207 specific granule deficiency 1 skos:exactMatch OMIM:245480 specific granule deficiency 1 semapv:ManualMappingCuration MONDO:0044208 specific granule deficiency 2 skos:exactMatch OMIM:617475 specific granule deficiency 2 semapv:ManualMappingCuration MONDO:0044214 obsolete androstenone, ability to smell skos:exactMatch OMIM:105570 androstenone, ability to smell semapv:ManualMappingCuration MONDO:0044215 obsolete arm folding preference skos:exactMatch OMIM:107850 arm folding preference semapv:ManualMappingCuration MONDO:0044216 obsolete artichoke, modification of taste by skos:exactMatch OMIM:108320 artichoke, modification of taste by semapv:ManualMappingCuration MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:ManualMappingCuration MONDO:0044218 obsolete beeturia skos:exactMatch OMIM:109600 beeturia semapv:ManualMappingCuration MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:ManualMappingCuration MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:ManualMappingCuration MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:ManualMappingCuration MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:ManualMappingCuration MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:ManualMappingCuration MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:ManualMappingCuration MONDO:0044227 obsolete dimples, facial skos:exactMatch OMIM:126100 dimples, facial semapv:ManualMappingCuration MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:ManualMappingCuration MONDO:0044229 obsolete epiblepharon of lower 51d skos:exactMatch OMIM:131450 epiblepharon of lower 51d semapv:ManualMappingCuration MONDO:0044230 obsolete epiblepharon of upper 51d skos:exactMatch OMIM:131460 epiblepharon of upper 51d semapv:ManualMappingCuration MONDO:0044231 obsolete eyebrow, whorl 1n skos:exactMatch OMIM:133800 eyebrow, whorl 1n semapv:ManualMappingCuration MONDO:0044232 obsolete fingers, relative length of skos:exactMatch OMIM:136100 fingers, relative length of semapv:ManualMappingCuration MONDO:0044233 obsolete hair whorl skos:exactMatch OMIM:139400 hair whorl semapv:ManualMappingCuration MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:ManualMappingCuration MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:ManualMappingCuration MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:ManualMappingCuration MONDO:0044237 obsolete hypercholesterolemia suppressor skos:exactMatch OMIM:144020 hypercholesterolemia suppressor semapv:ManualMappingCuration MONDO:0044238 obsolete lunulae of fingernails skos:exactMatch OMIM:152600 lunulae of fingernails semapv:ManualMappingCuration MONDO:0044239 obsolete median-ulnar nerve communications skos:exactMatch OMIM:155150 median-ulnar nerve communications semapv:ManualMappingCuration MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:ManualMappingCuration MONDO:0044241 obsolete mydriatic response to pharmacologic agents skos:exactMatch OMIM:159410 mydriatic response to pharmacologic agents semapv:ManualMappingCuration MONDO:0044242 obsolete mydriasis, congenital skos:exactMatch OMIM:159420 mydriasis, congenital semapv:ManualMappingCuration MONDO:0044243 obsolete nail high-sulfur protein skos:exactMatch OMIM:161070 nail high-sulfur protein semapv:ManualMappingCuration MONDO:0044244 obsolete nail low-sulfur protein skos:exactMatch OMIM:161080 nail low-sulfur protein semapv:ManualMappingCuration MONDO:0044245 obsolete nailbeds, pigmentation of skos:exactMatch OMIM:161100 nailbeds, pigmentation of semapv:ManualMappingCuration MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:ManualMappingCuration MONDO:0044247 obsolete palmomental reflex skos:exactMatch OMIM:167700 palmomental reflex semapv:ManualMappingCuration MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:ManualMappingCuration MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:ManualMappingCuration MONDO:0044250 obsolete tongue curling, folding, or rolling skos:exactMatch OMIM:189300 tongue curling, folding, or rolling semapv:ManualMappingCuration MONDO:0044251 obsolete australia antigen skos:exactMatch OMIM:209800 australia antigen semapv:ManualMappingCuration MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:ManualMappingCuration MONDO:0044253 obsolete dermatoglyphics--palmar triradius d, absence of skos:exactMatch OMIM:221760 dermatoglyphics--palmar triradius d, absence of semapv:ManualMappingCuration MONDO:0044254 obsolete dermatoglyphics--hypothenar radial arch skos:exactMatch OMIM:221780 dermatoglyphics--hypothenar radial arch semapv:ManualMappingCuration MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:ManualMappingCuration MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:ManualMappingCuration MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:ManualMappingCuration MONDO:0044258 obsolete methane production skos:exactMatch OMIM:250650 methane production semapv:ManualMappingCuration MONDO:0044259 obsolete skin/hair/eye pigmentation, variation in, 2 skos:exactMatch OMIM:266300 skin/hair/eye pigmentation, variation in, 2 semapv:ManualMappingCuration MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:ManualMappingCuration MONDO:0044262 obsolete cyanide, inability to smell skos:exactMatch OMIM:304300 cyanide, inability to smell semapv:ManualMappingCuration MONDO:0044264 obsolete radial loop, plain, on right index finger skos:exactMatch OMIM:312200 radial loop, plain, on right index finger semapv:ManualMappingCuration MONDO:0044265 obsolete tooth size skos:exactMatch OMIM:314240 tooth size semapv:ManualMappingCuration MONDO:0044268 obsolete transsexuality skos:exactMatch OMIM:600952 transsexuality semapv:ManualMappingCuration MONDO:0044269 obsolete novelty seeking personality trait skos:exactMatch OMIM:601696 novelty seeking personality trait semapv:ManualMappingCuration MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:ManualMappingCuration MONDO:0044271 obsolete bone mineral density quantitative trait locus 1 skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:ManualMappingCuration MONDO:0044272 obsolete body mass index quantitative trait locus 9 skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:ManualMappingCuration MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:ManualMappingCuration MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:ManualMappingCuration MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:ManualMappingCuration MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:ManualMappingCuration MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:ManualMappingCuration MONDO:0044279 obsolete bone mineral density quantitative trait locus 15 skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:ManualMappingCuration MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:ManualMappingCuration MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:ManualMappingCuration MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, VEL system semapv:ManualMappingCuration MONDO:0044283 obsolete body mass index quantitative trait locus 18 skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:ManualMappingCuration MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:ManualMappingCuration MONDO:0044299 myasthenic syndrome, congenital, 22 skos:exactMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:ManualMappingCuration MONDO:0044300 familial adenomatous polyposis 4 skos:exactMatch OMIM:617100 familial adenomatous polyposis 4 semapv:ManualMappingCuration MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to skos:exactMatch OMIM:617349 aortic aneurysm, familial thoracic 11, susceptibility to semapv:ManualMappingCuration MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:ManualMappingCuration MONDO:0044303 congenital heart defects and ectodermal dysplasia skos:exactMatch OMIM:617364 congenital heart defects and ectodermal dysplasia semapv:ManualMappingCuration MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:ManualMappingCuration MONDO:0044305 ectodermal dysplasia 13, hair/tooth type skos:exactMatch OMIM:617392 ectodermal dysplasia 13, hair/tooth type semapv:ManualMappingCuration MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch OMIM:617393 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination semapv:ManualMappingCuration MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch OMIM:617406 bardet-biedl syndrome 21 semapv:ManualMappingCuration MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch OMIM:617408 diamond-blackfan anemia 16 semapv:ManualMappingCuration MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch OMIM:617409 diamond-blackfan anemia 17 semapv:ManualMappingCuration MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:exactMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:ManualMappingCuration MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:exactMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:ManualMappingCuration MONDO:0044313 intellectual disability, autosomal recessive 60 skos:exactMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:ManualMappingCuration MONDO:0044314 retinitis pigmentosa 78 skos:exactMatch OMIM:617433 retinitis pigmentosa 78 semapv:ManualMappingCuration MONDO:0044315 craniosynostosis 7 skos:exactMatch OMIM:617439 craniosynostosis 7 semapv:ManualMappingCuration MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis skos:exactMatch OMIM:617441 thrombocytopenia, anemia, and myelofibrosis semapv:ManualMappingCuration MONDO:0044317 premature ovarian failure 13 skos:exactMatch OMIM:617442 premature ovarian failure 13 semapv:ManualMappingCuration MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold skos:exactMatch OMIM:617450 jansen-de vries syndrome semapv:ManualMappingCuration MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies semapv:ManualMappingCuration MONDO:0044320 retinitis pigmentosa 79 skos:exactMatch OMIM:617460 retinitis pigmentosa 79 semapv:ManualMappingCuration MONDO:0044321 structural heart defects and renal anomalies syndrome skos:exactMatch OMIM:617478 structural heart defects and renal anomalies syndrome semapv:ManualMappingCuration MONDO:0044322 intellectual developmental disorder with neuropsychiatric features skos:exactMatch OMIM:617532 intellectual developmental disorder with neuropsychiatric features semapv:ManualMappingCuration MONDO:0044323 Rahman syndrome skos:exactMatch OMIM:617537 rahman syndrome semapv:ManualMappingCuration MONDO:0044324 Al Kaissi syndrome skos:exactMatch OMIM:617694 al kaissi syndrome semapv:ManualMappingCuration MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch OMIM:617784 fanconi anemia, complementation group w semapv:ManualMappingCuration MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:exactMatch OMIM:617836 developmental delay and seizures with or without movement abnormalities semapv:ManualMappingCuration MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 polycystic liver disease 4 with or without kidney cysts semapv:ManualMappingCuration MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly semapv:ManualMappingCuration MONDO:0044329 osteogenesis imperfecta, type 18 skos:exactMatch OMIM:617952 osteogenesis imperfecta, type 18 semapv:ManualMappingCuration MONDO:0044330 hyperekplexia 4 skos:exactMatch OMIM:618011 hyperekplexia 4 semapv:ManualMappingCuration MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch OMIM:600166 hyperparathyroidism, primary, caused by water clear cell hyperplasia semapv:ManualMappingCuration MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch OMIM:617763 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:ManualMappingCuration MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:ManualMappingCuration MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:ManualMappingCuration MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch OMIM:614674 periodic fever, menstrual cycle-dependent semapv:ManualMappingCuration MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:ManualMappingCuration MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:ManualMappingCuration MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch OMIM:301018 deafness, X-linked 7 semapv:ManualMappingCuration MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:ManualMappingCuration MONDO:0044718 alkaline ceramidase 3 deficiency skos:exactMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:ManualMappingCuration MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome semapv:ManualMappingCuration MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch OMIM:617514 immunodeficiency 52 semapv:ManualMappingCuration MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 3-methylglutaconic aciduria, type 8 semapv:ManualMappingCuration MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch OMIM:617698 3-methylglutaconic aciduria, type 9 semapv:ManualMappingCuration MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch OMIM:617827 immunodeficiency 55 semapv:ManualMappingCuration MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch OMIM:617595 birk-landau-perez syndrome semapv:ManualMappingCuration MONDO:0044738 Gabriele de Vries syndrome skos:exactMatch OMIM:617557 gabriele-de vries syndrome semapv:ManualMappingCuration MONDO:0044776 premature ovarian failure 10 skos:exactMatch OMIM:612885 premature ovarian failure 10 semapv:ManualMappingCuration MONDO:0044777 premature ovarian failure 14 skos:exactMatch OMIM:618014 premature ovarian failure 14 semapv:ManualMappingCuration MONDO:0044792 large congenital melanocytic nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:ManualMappingCuration MONDO:0044871 dystonia, focal, task-specific skos:exactMatch OMIM:611284 dystonia, focal, task-specific semapv:ManualMappingCuration MONDO:0049221 myopia 26, X-linked, female-limited skos:exactMatch OMIM:301010 myopia 26, x-linked, female-limited semapv:ManualMappingCuration MONDO:0049222 intellectual disability, X-linked 107 skos:exactMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:ManualMappingCuration MONDO:0049223 osteogenesis imperfecta, type 19 skos:exactMatch OMIM:301014 osteogenesis imperfecta, type 19 semapv:ManualMappingCuration MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch OMIM:617370 peroxisome biogenesis disorder 10b semapv:ManualMappingCuration MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:exactMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:ManualMappingCuration MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:exactMatch OMIM:617383 avascular necrosis of femoral head, primary, 2 semapv:ManualMappingCuration MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch OMIM:617395 congenital disorder of glycosylation, type iiq semapv:ManualMappingCuration MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:ManualMappingCuration MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch OMIM:617396 anauxetic dysplasia 2 semapv:ManualMappingCuration MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:exactMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:ManualMappingCuration MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:exactMatch OMIM:617435 lopes-maciel-rodan syndrome semapv:ManualMappingCuration MONDO:0054577 bleeding disorder, platelet-type, 21 skos:exactMatch OMIM:617443 bleeding disorder, platelet-type, 21 semapv:ManualMappingCuration MONDO:0054581 Townes-Brocks syndrome 1 skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:ManualMappingCuration MONDO:0054582 Townes-Brocks syndrome 2 skos:exactMatch OMIM:617466 townes-brocks syndrome 2 semapv:ManualMappingCuration MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch OMIM:617506 noonan syndrome-like disorder with loose anagen hair 2 semapv:ManualMappingCuration MONDO:0054591 Stankiewicz-Isidor syndrome skos:exactMatch OMIM:617516 stankiewicz-isidor syndrome semapv:ManualMappingCuration MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:exactMatch OMIM:617520 microcephaly 18, primary, autosomal dominant semapv:ManualMappingCuration MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch OMIM:617540 pituitary adenoma 5, multiple types semapv:ManualMappingCuration MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:exactMatch OMIM:617542 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development semapv:ManualMappingCuration MONDO:0054615 spermatogenic failure 18 skos:exactMatch OMIM:617576 spermatogenic failure 18 semapv:ManualMappingCuration MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch OMIM:617616 skraban-deardorff syndrome semapv:ManualMappingCuration MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:ManualMappingCuration MONDO:0054654 combined oxidative phosphorylation deficiency 32 skos:exactMatch OMIM:617664 combined oxidative phosphorylation deficiency 32 semapv:ManualMappingCuration MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch OMIM:617686 pituitary adenoma 3, multiple types semapv:ManualMappingCuration MONDO:0054666 ovarian dysgenesis 5 skos:exactMatch OMIM:617690 ovarian dysgenesis 5 semapv:ManualMappingCuration MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch OMIM:617695 pontocerebellar hypoplasia, type 11 semapv:ManualMappingCuration MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch OMIM:617713 combined oxidative phosphorylation deficiency 33 semapv:ManualMappingCuration MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch OMIM:617719 epiphyseal dysplasia, multiple, 7 semapv:ManualMappingCuration MONDO:0054691 immunodeficiency, common variable, 14 skos:exactMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:ManualMappingCuration MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:ManualMappingCuration MONDO:0054696 immunodeficiency 53 skos:exactMatch OMIM:617585 immunodeficiency 53 semapv:ManualMappingCuration MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:ManualMappingCuration MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:ManualMappingCuration MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:ManualMappingCuration MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 proteasome-associated autoinflammatory syndrome 2 semapv:ManualMappingCuration MONDO:0054701 Kleefstra syndrome 2 skos:exactMatch OMIM:617768 kleefstra syndrome 2 semapv:ManualMappingCuration MONDO:0054708 retinitis pigmentosa 80 skos:exactMatch OMIM:617781 retinitis pigmentosa 80 semapv:ManualMappingCuration MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:exactMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0054722 geleophysic dysplasia 3 skos:exactMatch OMIM:617809 geleophysic dysplasia 3 semapv:ManualMappingCuration MONDO:0054723 spermatogenic failure 19 skos:exactMatch OMIM:617592 spermatogenic failure 19 semapv:ManualMappingCuration MONDO:0054724 spermatogenic failure 20 skos:exactMatch OMIM:617593 spermatogenic failure 20 semapv:ManualMappingCuration MONDO:0054725 spermatogenic failure 21 skos:exactMatch OMIM:617644 spermatogenic failure 21 semapv:ManualMappingCuration MONDO:0054726 spermatogenic failure 22 skos:exactMatch OMIM:617706 spermatogenic failure 22 semapv:ManualMappingCuration MONDO:0054727 spermatogenic failure 23 skos:exactMatch OMIM:617707 spermatogenic failure 23 semapv:ManualMappingCuration MONDO:0054728 spermatogenic failure 24 skos:exactMatch OMIM:617959 spermatogenic failure 24 semapv:ManualMappingCuration MONDO:0054729 spermatogenic failure 25 skos:exactMatch OMIM:617960 spermatogenic failure 25 semapv:ManualMappingCuration MONDO:0054730 spermatogenic failure 26 skos:exactMatch OMIM:617961 spermatogenic failure 26 semapv:ManualMappingCuration MONDO:0054731 spermatogenic failure 27 skos:exactMatch OMIM:617965 spermatogenic failure 27 semapv:ManualMappingCuration MONDO:0054732 spermatogenic failure 28 skos:exactMatch OMIM:618086 spermatogenic failure 28 semapv:ManualMappingCuration MONDO:0054733 spermatogenic failure 29 skos:exactMatch OMIM:618091 spermatogenic failure 29 semapv:ManualMappingCuration MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:exactMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:ManualMappingCuration MONDO:0054737 Fraser syndrome 1 skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:ManualMappingCuration MONDO:0054738 Fraser syndrome 2 skos:exactMatch OMIM:617666 fraser syndrome 2 semapv:ManualMappingCuration MONDO:0054739 Fraser syndrome 3 skos:exactMatch OMIM:617667 fraser syndrome 3 semapv:ManualMappingCuration MONDO:0054740 blepharocheilodontic syndrome 1 skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:ManualMappingCuration MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:exactMatch OMIM:617872 combined oxidative phosphorylation deficiency 34 semapv:ManualMappingCuration MONDO:0054742 combined oxidative phosphorylation deficiency 35 skos:exactMatch OMIM:617873 combined oxidative phosphorylation deficiency 35 semapv:ManualMappingCuration MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch OMIM:617874 polycystic liver disease 3 with or without kidney cysts semapv:ManualMappingCuration MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch OMIM:617883 fanconi anemia, complementation group s semapv:ManualMappingCuration MONDO:0054749 obsolete body mass index quantitative trait locus 19 skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:ManualMappingCuration MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 semapv:ManualMappingCuration MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch OMIM:617898 multiple synostoses syndrome 4 semapv:ManualMappingCuration MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:ManualMappingCuration MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:exactMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0054763 neurodegeneration with brain iron accumulation 7 skos:exactMatch OMIM:617916 neurodegeneration with brain iron accumulation 7 semapv:ManualMappingCuration MONDO:0054764 neurodegeneration with brain iron accumulation 8 skos:exactMatch OMIM:617917 neurodegeneration with brain iron accumulation 8 semapv:ManualMappingCuration MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:exactMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:ManualMappingCuration MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:ManualMappingCuration MONDO:0054771 keratoconus 9 skos:exactMatch OMIM:617928 keratoconus 9 semapv:ManualMappingCuration MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:exactMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:ManualMappingCuration MONDO:0054780 elliptocytosis 3 skos:exactMatch OMIM:617948 elliptocytosis 3 semapv:ManualMappingCuration MONDO:0054781 combined oxidative phosphorylation deficiency 36 skos:exactMatch OMIM:617950 combined oxidative phosphorylation deficiency 36 semapv:ManualMappingCuration MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:exactMatch OMIM:617951 leukodystrophy, hypomyelinating, 15 semapv:ManualMappingCuration MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 semapv:ManualMappingCuration MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:exactMatch OMIM:617964 leukodystrophy, hypomyelinating, 16 semapv:ManualMappingCuration MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:exactMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:ManualMappingCuration MONDO:0054801 erythrocytosis, familial, 6 skos:exactMatch OMIM:617980 erythrocytosis, familial, 6 semapv:ManualMappingCuration MONDO:0054802 erythrocytosis, familial, 7 skos:exactMatch OMIM:617981 erythrocytosis, familial, 7 semapv:ManualMappingCuration MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:exactMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:exactMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:exactMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch OMIM:618000 ehlers-danlos syndrome, classic-like, 2 semapv:ManualMappingCuration MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:exactMatch OMIM:618006 leukodystrophy, hypomyelinating, 17 semapv:ManualMappingCuration MONDO:0054831 Coffin-Siris syndrome 7 skos:exactMatch OMIM:618027 coffin-siris syndrome 7 semapv:ManualMappingCuration MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:exactMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:ManualMappingCuration MONDO:0054833 Charcot-Marie-tooth disease, axonal, type 2DD skos:exactMatch OMIM:618036 charcot-marie-tooth disease, axonal, type 2dd semapv:ManualMappingCuration MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:ManualMappingCuration MONDO:0054837 intellectual disability, autosomal dominant 57 skos:exactMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:ManualMappingCuration MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:exactMatch OMIM:618052 cardiomyopathy, familial hypertrophic, 27 semapv:ManualMappingCuration MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch OMIM:618061 polycystic kidney disease 6 with or without polycystic liver disease semapv:ManualMappingCuration MONDO:0054843 ciliary dyskinesia, primary, 38 skos:exactMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:ManualMappingCuration MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:exactMatch OMIM:618065 pontocerebellar hypoplasia, type 1d semapv:ManualMappingCuration MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:exactMatch OMIM:618067 developmental and epileptic encephalopathy 66 semapv:ManualMappingCuration MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:exactMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:ManualMappingCuration MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:exactMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:ManualMappingCuration MONDO:0054849 inflammatory bowel disease 29 skos:exactMatch OMIM:618077 inflammatory bowel disease 29 semapv:ManualMappingCuration MONDO:0054850 ovarian dysgenesis 6 skos:exactMatch OMIM:618078 ovarian dysgenesis 6 semapv:ManualMappingCuration MONDO:0054852 peeling skin syndrome 6 skos:exactMatch OMIM:618084 peeling skin syndrome 6 semapv:ManualMappingCuration MONDO:0054860 hearing loss, autosomal recessive 110 skos:exactMatch OMIM:618094 deafness, autosomal recessive 110 semapv:ManualMappingCuration MONDO:0054861 intellectual disability, autosomal recessive 63 skos:exactMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:ManualMappingCuration MONDO:0054862 premature ovarian failure 15 skos:exactMatch OMIM:618096 premature ovarian failure 15 semapv:ManualMappingCuration MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:ManualMappingCuration MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch OMIM:617523 neurodevelopmental disorder with midbrain and hindbrain malformations semapv:ManualMappingCuration MONDO:0056822 amyotonia congenita skos:exactMatch OMIM:205000 amyotonia congenita semapv:ManualMappingCuration MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch OMIM:301015 hemolytic anemia, congenital, X-linked semapv:ManualMappingCuration MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:exactMatch OMIM:302700 cerebral sclerosis, diffuse, scholz type semapv:ManualMappingCuration MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:exactMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:ManualMappingCuration MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect semapv:ManualMappingCuration MONDO:0060489 46,XX sex reversal 4 skos:exactMatch OMIM:617480 46,xx sex reversal 4 semapv:ManualMappingCuration MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies semapv:ManualMappingCuration MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch OMIM:617493 neurodevelopmental disorder with involuntary movements semapv:ManualMappingCuration MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:exactMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:ManualMappingCuration MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies semapv:ManualMappingCuration MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:exactMatch OMIM:617547 retinal dystrophy with or without macular staphyloma semapv:ManualMappingCuration MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch OMIM:617561 cohen-gibson syndrome semapv:ManualMappingCuration MONDO:0060527 maleylacetoacetate isomerase deficiency skos:exactMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:ManualMappingCuration MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch OMIM:617602 congenital heart defects and skeletal malformations syndrome semapv:ManualMappingCuration MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch OMIM:617604 microcephaly, short stature, and limb abnormalities semapv:ManualMappingCuration MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch OMIM:617641 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:ManualMappingCuration MONDO:0060550 polydactyly, postaxial, type a7 skos:exactMatch OMIM:617642 polydactyly, postaxial, type a7 semapv:ManualMappingCuration MONDO:0060551 cerebellar atrophy, developmental delay, and seizures skos:exactMatch OMIM:617643 cerebellar atrophy, developmental delay, and seizures semapv:ManualMappingCuration MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:ManualMappingCuration MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:ManualMappingCuration MONDO:0060556 joint laxity, short stature, and myopia skos:exactMatch OMIM:617662 joint laxity, short stature, and myopia semapv:ManualMappingCuration MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:ManualMappingCuration MONDO:0060564 HELIX syndrome skos:exactMatch OMIM:617671 HELIX syndrome semapv:ManualMappingCuration MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch OMIM:617682 pilarowski-bjornsson syndrome semapv:ManualMappingCuration MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch OMIM:617709 neurodevelopmental disorder with microcephaly, ataxia, and seizures semapv:ManualMappingCuration MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch OMIM:617710 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures semapv:ManualMappingCuration MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:exactMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:ManualMappingCuration MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia semapv:ManualMappingCuration MONDO:0060585 neuronopathy, distal hereditary motor, type 9 skos:exactMatch OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 semapv:ManualMappingCuration MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:exactMatch OMIM:617732 facial palsy, congenital, with ptosis and velopharyngeal dysfunction semapv:ManualMappingCuration MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:exactMatch OMIM:617744 immunodeficiency, developmental delay, and hypohomocysteinemia semapv:ManualMappingCuration MONDO:0060592 Sweeney-Cox syndrome skos:exactMatch OMIM:617746 sweeney-cox syndrome semapv:ManualMappingCuration MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:ManualMappingCuration MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:ManualMappingCuration MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:ManualMappingCuration MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy semapv:ManualMappingCuration MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch OMIM:617804 neurodevelopmental disorder with variable motor and language impairment semapv:ManualMappingCuration MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:exactMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:ManualMappingCuration MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:exactMatch OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 semapv:ManualMappingCuration MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive semapv:ManualMappingCuration MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch OMIM:617822 alkuraya-kucinskas syndrome semapv:ManualMappingCuration MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch OMIM:617862 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:ManualMappingCuration MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities skos:exactMatch OMIM:617864 neurodevelopmental disorder with or without seizures and gait abnormalities semapv:ManualMappingCuration MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features semapv:ManualMappingCuration MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch OMIM:617879 leber congenital amaurosis with early-onset deafness semapv:ManualMappingCuration MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:exactMatch OMIM:617903 neurodevelopmental disorder with poor language and loss of hand skills semapv:ManualMappingCuration MONDO:0060662 Diamond-Blackfan anemia-like skos:exactMatch OMIM:617911 diamond-blackfan anemia-like semapv:ManualMappingCuration MONDO:0060663 congenital heart defects, multiple types, 5 skos:exactMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:ManualMappingCuration MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:ManualMappingCuration MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:exactMatch OMIM:617915 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome semapv:ManualMappingCuration MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 semapv:ManualMappingCuration MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch OMIM:617924 epilepsy, juvenile myoclonic, susceptibility to, 10 semapv:ManualMappingCuration MONDO:0060677 chromosome 1p35 deletion syndrome skos:exactMatch OMIM:617930 chromosome 1p35 deletion syndrome semapv:ManualMappingCuration MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:exactMatch OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency semapv:ManualMappingCuration MONDO:0060690 phenytoin toxicity skos:exactMatch OMIM:617955 phenytoin toxicity semapv:ManualMappingCuration MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type skos:exactMatch OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco type semapv:ManualMappingCuration MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:exactMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:ManualMappingCuration MONDO:0060707 Ververi-Brady syndrome skos:exactMatch OMIM:617982 ververi-brady syndrome semapv:ManualMappingCuration MONDO:0060711 Jaberi-Elahi syndrome skos:exactMatch OMIM:617988 jaberi-elahi syndrome semapv:ManualMappingCuration MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon semapv:ManualMappingCuration MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:ManualMappingCuration MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:ManualMappingCuration MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 semapv:ManualMappingCuration MONDO:0060729 protoporphyria, erythropoietic, 2 skos:exactMatch OMIM:618015 protoporphyria, erythropoietic, 2 semapv:ManualMappingCuration MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch OMIM:618021 tetraamelia syndrome 2 semapv:ManualMappingCuration MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:exactMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:ManualMappingCuration MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:exactMatch OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia semapv:ManualMappingCuration MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch OMIM:618076 neurodevelopmental disorder with spasticity and poor growth semapv:ManualMappingCuration MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:exactMatch OMIM:618087 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits semapv:ManualMappingCuration MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:ManualMappingCuration MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:ManualMappingCuration MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:exactMatch OMIM:618090 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum semapv:ManualMappingCuration MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:exactMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:ManualMappingCuration MONDO:0060764 tetraamelia syndrome 1 skos:exactMatch OMIM:273395 tetraamelia syndrome 1 semapv:ManualMappingCuration MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:exactMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:ManualMappingCuration MONDO:0100040 FOXG1 disorder skos:exactMatch OMIM:613454 rett syndrome, congenital variant semapv:ManualMappingCuration MONDO:0100042 cardiac conduction defect skos:exactMatch OMIM:115080 cardiac conduction defect semapv:ManualMappingCuration MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:exactMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:ManualMappingCuration MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0100046 exfoliation syndrome, susceptibility to skos:exactMatch OMIM:177650 exfoliation syndrome semapv:ManualMappingCuration MONDO:0100048 graft-versus-host disease, susceptibility to skos:exactMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:ManualMappingCuration MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia semapv:ManualMappingCuration MONDO:0100079 developmental and epileptic encephalopathy, 6A skos:exactMatch OMIM:607208 dravet syndrome semapv:ManualMappingCuration MONDO:0100082 LEOPARD syndrome 1 skos:exactMatch OMIM:151100 leopard syndrome 1 semapv:ManualMappingCuration MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:ManualMappingCuration MONDO:0100092 myoclonus, familial, 2 skos:exactMatch OMIM:618364 myoclonus, familial, 2 semapv:ManualMappingCuration MONDO:0100093 myoclonus, familial, 1 skos:exactMatch OMIM:614937 myoclonus, familial, 1 semapv:ManualMappingCuration MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures semapv:ManualMappingCuration MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:ManualMappingCuration MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch OMIM:618388 fetal akinesia deformation sequence 2 semapv:ManualMappingCuration MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch OMIM:618389 fetal akinesia deformation sequence 3 semapv:ManualMappingCuration MONDO:0100104 fetal akinesia deformation sequence 4 skos:exactMatch OMIM:618393 fetal akinesia deformation sequence 4 semapv:ManualMappingCuration MONDO:0100105 brain small vessel disease 3 skos:exactMatch OMIM:618360 brain small vessel disease 3 semapv:ManualMappingCuration MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0100119 Knobloch syndrome 2 skos:exactMatch OMIM:618458 knobloch syndrome 2 semapv:ManualMappingCuration MONDO:0100129 intracranial arachoid cyst skos:exactMatch OMIM:207790 arachnoid cysts, intracranial semapv:ManualMappingCuration MONDO:0100151 nephropathic cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:ManualMappingCuration MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:ManualMappingCuration MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:exactMatch OMIM:618882 imerslund-grasbeck syndrome 2 semapv:ManualMappingCuration MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:exactMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:ManualMappingCuration MONDO:0100177 allergic rhinitis, susceptibility to skos:exactMatch OMIM:607154 allergic rhinitis semapv:ManualMappingCuration MONDO:0100180 diabetes mellitus, ketosis-prone skos:exactMatch OMIM:612227 diabetes mellitus, ketosis-prone semapv:ManualMappingCuration MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:ManualMappingCuration MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:ManualMappingCuration MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome skos:exactMatch OMIM:308205 ifap syndrome 1, with or without bresheck syndrome semapv:ManualMappingCuration MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:ManualMappingCuration MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:ManualMappingCuration MONDO:0100218 arthrogryposis multiplex congenita 5 skos:exactMatch OMIM:618947 arthrogryposis multiplex congenita 5 semapv:ManualMappingCuration MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:ManualMappingCuration MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch OMIM:619013 rajab interstitial lung disease with brain calcifications 2 semapv:ManualMappingCuration MONDO:0100221 IFAP syndrome 2 skos:exactMatch OMIM:619016 ifap syndrome 2 semapv:ManualMappingCuration MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch OMIM:252010 mitochondrial complex 1 deficiency, nuclear type 1 semapv:ManualMappingCuration MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch OMIM:613938 parasomnia, sleepwalking type semapv:ManualMappingCuration MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:ManualMappingCuration MONDO:0100250 46,XX sex reversal 1 skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:ManualMappingCuration MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:ManualMappingCuration MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:ManualMappingCuration MONDO:0100255 adenosine kinase deficiency skos:exactMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:ManualMappingCuration MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:exactMatch OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0100285 extrahepatic biliary atresia skos:exactMatch OMIM:210500 biliary atresia, extrahepatic semapv:ManualMappingCuration MONDO:0100288 enhanced S-cone syndrome skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:ManualMappingCuration MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:ManualMappingCuration MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 semapv:ManualMappingCuration MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:ManualMappingCuration MONDO:0100296 Olmsted syndrome 1 skos:exactMatch OMIM:614594 olmsted syndrome 1 semapv:ManualMappingCuration MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:ManualMappingCuration MONDO:0100302 LADD syndrome 1 skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:ManualMappingCuration MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:exactMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:ManualMappingCuration MONDO:0100316 long QT syndrome 1 skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:ManualMappingCuration MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch OMIM:184260 odontochondrodysplasia 1 semapv:ManualMappingCuration MONDO:0100340 Friedreich ataxia 1 skos:exactMatch OMIM:229300 friedreich ataxia semapv:ManualMappingCuration MONDO:0100344 Bartter disease type 1 skos:exactMatch OMIM:601678 bartter syndrome, type 1, antenatal semapv:ManualMappingCuration MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities semapv:ManualMappingCuration MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:ManualMappingCuration MONDO:0100428 progressive bulbar palsy of childhood skos:exactMatch OMIM:211500 fazio-londe disease semapv:ManualMappingCuration MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:exactMatch OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay semapv:ManualMappingCuration MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch OMIM:255800 schwartz-jampel syndrome, type 1 semapv:ManualMappingCuration MONDO:0100436 cataract 2, multiple types skos:exactMatch OMIM:604307 cataract 2, multiple types semapv:ManualMappingCuration MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch OMIM:193235 vitreoretinopathy, neovascular inflammatory semapv:ManualMappingCuration MONDO:0100457 achalasia, familial esophageal skos:exactMatch OMIM:200400 achalasia, familial esophageal semapv:ManualMappingCuration MONDO:0100460 tobacco addiction, susceptibility to skos:exactMatch OMIM:188890 tobacco addiction, susceptibility to semapv:ManualMappingCuration MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch OMIM:165800 short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:ManualMappingCuration MONDO:0100467 preeclampsia/eclampsia 1 skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:ManualMappingCuration MONDO:0100468 Batten-Turner congenital myopathy skos:exactMatch OMIM:255300 batten-turner congenital myopathy semapv:ManualMappingCuration MONDO:0100469 anosmia, isolated congenital, X-linked skos:exactMatch OMIM:301700 anosmia, isolated congenital, X-linked semapv:ManualMappingCuration MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:ManualMappingCuration MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:ManualMappingCuration MONDO:0100486 adult acne skos:exactMatch OMIM:604324 acne, adult semapv:ManualMappingCuration MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:ManualMappingCuration MONDO:0100489 Graves disease, susceptibility to, 1 skos:exactMatch OMIM:275000 graves disease semapv:ManualMappingCuration MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:ManualMappingCuration MONDO:0100518 hereditary attention deficit-hyperactivity disorder skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:ManualMappingCuration MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 skos:exactMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:ManualMappingCuration MONDO:0100522 hypotrichosis 4 skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:ManualMappingCuration MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked skos:exactMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:ManualMappingCuration MONDO:0100532 blepharospasm, benign essential, susceptibility to skos:exactMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:ManualMappingCuration MONDO:0100533 hemorrhage, intracerebral, susceptibility to skos:exactMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:ManualMappingCuration MONDO:0100553 OPTN-related open angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:ManualMappingCuration MONDO:0100607 ciliary dyskinesia, primary, 54 skos:exactMatch OMIM:621125 ciliary dyskinesia, primary, 54 semapv:ManualMappingCuration MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:ManualMappingCuration MONDO:0600024 familial idiopathic inflammatory myopathy skos:exactMatch OMIM:160750 myositis semapv:ManualMappingCuration MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:ManualMappingCuration MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:exactMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:ManualMappingCuration MONDO:0700060 leukemia, acute, X-linked skos:exactMatch OMIM:308960 leukemia, acute, X-linked semapv:ManualMappingCuration MONDO:0700077 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 semapv:ManualMappingCuration MONDO:0700087 Usher syndrome type 1B skos:exactMatch OMIM:276900 usher syndrome, type 1 semapv:ManualMappingCuration MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:exactMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:ManualMappingCuration MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:exactMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:ManualMappingCuration MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:exactMatch OMIM:270100 heterotaxy, visceral, 5, autosomal semapv:ManualMappingCuration MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive skos:exactMatch OMIM:620707 epidermolytic hyperkeratosis 2b, autosomal recessive semapv:ManualMappingCuration MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant semapv:ManualMappingCuration MONDO:0700249 epidermolytic hyperkeratosis 1 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:ManualMappingCuration MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 semapv:ManualMappingCuration MONDO:0700275 prostate cancer, hereditary skos:exactMatch OMIM:176807 prostate cancer semapv:ManualMappingCuration MONDO:0700286 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical skos:exactMatch OMIM:621061 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical semapv:ManualMappingCuration MONDO:0700288 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy skos:exactMatch OMIM:621129 neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy semapv:ManualMappingCuration MONDO:0700290 spermatogenic failure 98 skos:exactMatch OMIM:621124 spermatogenic failure 98 semapv:ManualMappingCuration MONDO:0700295 leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical skos:exactMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical semapv:ManualMappingCuration MONDO:0700297 homocystinuria-megaloblastic anemia cblD type skos:exactMatch OMIM:620952 homocystinuria-megaloblastic anemia, cbld type semapv:ManualMappingCuration MONDO:0700298 isolated methylmalonic aciduria cblD type skos:exactMatch OMIM:620953 methylmalonic aciduria, cbld type semapv:ManualMappingCuration MONDO:0700299 ACTH-independent macronodular adrenal hyperplasia-3 skos:exactMatch OMIM:620990 acth-independent macronodular adrenal hyperplasia 3 semapv:ManualMappingCuration MONDO:0700300 achalasia-progeroid syndrome skos:exactMatch OMIM:621123 achalasia-progeroid syndrome semapv:ManualMappingCuration MONDO:0700301 Fischer-Zirnsak progeroid syndrome skos:exactMatch OMIM:621130 fischer-zirnsak progeroid syndrome semapv:ManualMappingCuration MONDO:0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant skos:exactMatch OMIM:621030 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0800001 delayed sleep phase syndrome, susceptibility to skos:exactMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:ManualMappingCuration MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:ManualMappingCuration MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:ManualMappingCuration MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch OMIM:221820 leukoencephalopathy, hereditary diffuse, with spheroids 1 semapv:ManualMappingCuration MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch OMIM:606703 dyskinesia with orofacial involvement, autosomal dominant semapv:ManualMappingCuration MONDO:0800029 interstitial lung disease 2 skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:ManualMappingCuration MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:ManualMappingCuration MONDO:0800042 restrictive dermopathy 1 skos:exactMatch OMIM:275210 restrictive dermopathy 1 semapv:ManualMappingCuration MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch OMIM:601559 stuve-wiedemann syndrome 1 semapv:ManualMappingCuration MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:ManualMappingCuration MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch OMIM:616744 autoinflammatory syndrome, familial, behcet-like 1 semapv:ManualMappingCuration MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch OMIM:609698 thyroid hormone metabolism, abnormal, 1 semapv:ManualMappingCuration MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch OMIM:613112 macrothrombocytopenia, isolated, 1, autosomal dominant semapv:ManualMappingCuration MONDO:0800103 COACH syndrome 1 skos:exactMatch OMIM:216360 coach syndrome 1 semapv:ManualMappingCuration MONDO:0800104 immunodeficiency 105 skos:exactMatch OMIM:619924 immunodeficiency 105, severe combined semapv:ManualMappingCuration MONDO:0800129 autoinflammatory disease, X-linked skos:exactMatch OMIM:301081 autoinflammatory disease, systemic, X-linked semapv:ManualMappingCuration MONDO:0800130 autoinflammatory syndrome with immunodeficiency skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:ManualMappingCuration MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:exactMatch OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections semapv:ManualMappingCuration MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency skos:exactMatch OMIM:619858 autoinflammatory-pancytopenia syndrome semapv:ManualMappingCuration MONDO:0800167 Knobloch syndrome 1 skos:exactMatch OMIM:267750 knobloch syndrome 1 semapv:ManualMappingCuration MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:ManualMappingCuration MONDO:0800306 myoclonic epilepsy of Lafora 2 skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:ManualMappingCuration MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:ManualMappingCuration MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:ManualMappingCuration MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:ManualMappingCuration MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:ManualMappingCuration MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch OMIM:135150 birt-hogg-dube syndrome 1 semapv:ManualMappingCuration MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to skos:exactMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:ManualMappingCuration MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital, 1 semapv:ManualMappingCuration MONDO:0800455 Birt-Hogg-Dube syndrome 2 skos:exactMatch OMIM:620459 birt-hogg-dube syndrome 2 semapv:ManualMappingCuration MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:ManualMappingCuration MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:ManualMappingCuration MONDO:0859046 rhabdomyosarcoma, embryonal, 2 skos:exactMatch OMIM:180295 rhabdomyosarcoma, embryonal, 2 semapv:ManualMappingCuration MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:ManualMappingCuration MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:ManualMappingCuration MONDO:0859081 chromosome Xq13 duplication syndrome skos:exactMatch OMIM:301069 chromosome xq13 duplication syndrome semapv:ManualMappingCuration MONDO:0859082 thrombophilia, X-linked, due to factor 8 defect skos:exactMatch OMIM:301071 thrombophilia, x-linked, due to factor 8 defect semapv:ManualMappingCuration MONDO:0859083 systemic lupus erythematosus 17 skos:exactMatch OMIM:301080 systemic lupus erythematosus 17 semapv:ManualMappingCuration MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked skos:exactMatch OMIM:301094 hijazi-reis syndrome semapv:ManualMappingCuration MONDO:0859086 intellectual developmental disorder, X-linked 110 skos:exactMatch OMIM:301095 intellectual developmental disorder, X-linked 110 semapv:ManualMappingCuration MONDO:0859136 Alzahrani-Kuwahara syndrome skos:exactMatch OMIM:619268 alzahrani-kuwahara syndrome semapv:ManualMappingCuration MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia skos:exactMatch OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia semapv:ManualMappingCuration MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch OMIM:619293 blepharophimosis-impaired intellectual development syndrome semapv:ManualMappingCuration MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia semapv:ManualMappingCuration MONDO:0859142 Hiatt-Neu-Cooper neurodevelopmental syndrome skos:exactMatch OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch OMIM:619312 radio-tartaglia syndrome semapv:ManualMappingCuration MONDO:0859144 Buratti-Harel syndrome skos:exactMatch OMIM:619314 buratti-harel syndrome semapv:ManualMappingCuration MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies skos:exactMatch OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies semapv:ManualMappingCuration MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch OMIM:619322 marbach-rustad progeroid syndrome semapv:ManualMappingCuration MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth semapv:ManualMappingCuration MONDO:0859149 hypertriglyceridemia 2 skos:exactMatch OMIM:619324 hypertriglyceridemia 2 semapv:ManualMappingCuration MONDO:0859150 BDV syndrome skos:exactMatch OMIM:619326 bdv syndrome semapv:ManualMappingCuration MONDO:0859151 fibromuscular dysplasia, multifocal skos:exactMatch OMIM:619329 fibromuscular dysplasia, multifocal semapv:ManualMappingCuration MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:ManualMappingCuration MONDO:0859154 Bartsocas-Papas syndrome 2 skos:exactMatch OMIM:619339 bartsocas-papas syndrome 2 semapv:ManualMappingCuration MONDO:0859155 chromosome 1p36 deletion syndrome, proximal skos:exactMatch OMIM:619343 chromosome 1p36 deletion syndrome, proximal semapv:ManualMappingCuration MONDO:0859156 dysostosis multiplex, Ain-Naz type skos:exactMatch OMIM:619345 dysostosis multiplex, ain-naz type semapv:ManualMappingCuration MONDO:0859157 visceral myopathy 2 skos:exactMatch OMIM:619350 visceral myopathy 2 semapv:ManualMappingCuration MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset skos:exactMatch OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset semapv:ManualMappingCuration MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy skos:exactMatch OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy semapv:ManualMappingCuration MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch OMIM:619355 mitochondrial complex 4 deficiency, nuclear type 22 semapv:ManualMappingCuration MONDO:0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome skos:exactMatch OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:ManualMappingCuration MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms skos:exactMatch OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms semapv:ManualMappingCuration MONDO:0859163 Faundes-Banka syndrome skos:exactMatch OMIM:619376 faundes-banka syndrome semapv:ManualMappingCuration MONDO:0859164 osteootohepatoenteric syndrome skos:exactMatch OMIM:619377 osteootohepatoenteric syndrome semapv:ManualMappingCuration MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities skos:exactMatch OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities semapv:ManualMappingCuration MONDO:0859166 visceral leiomyopathy, African degenerative skos:exactMatch OMIM:619400 visceral leiomyopathy, african degenerative semapv:ManualMappingCuration MONDO:0859167 hypokalemic tubulopathy and deafness skos:exactMatch OMIM:619406 hypokalemic tubulopathy and deafness semapv:ManualMappingCuration MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy semapv:ManualMappingCuration MONDO:0859169 White-Kernohan syndrome skos:exactMatch OMIM:619426 white-kernohan syndrome semapv:ManualMappingCuration MONDO:0859170 retinal dystrophy and microvillus inclusion disease skos:exactMatch OMIM:619446 retinal dystrophy and microvillus inclusion disease semapv:ManualMappingCuration MONDO:0859171 Luo-Schoch-Yamamoto syndrome skos:exactMatch OMIM:619460 luo-schoch-yamamoto syndrome semapv:ManualMappingCuration MONDO:0859172 hemolytic disease of fetus and newborn, RH-induced skos:exactMatch OMIM:619462 hemolytic disease of fetus and newborn, rh-induced semapv:ManualMappingCuration MONDO:0859173 sick sinus syndrome 4 skos:exactMatch OMIM:619464 sick sinus syndrome 4 semapv:ManualMappingCuration MONDO:0859174 Usmani-Riazuddin syndrome, autosomal dominant skos:exactMatch OMIM:619467 usmani-riazuddin syndrome, autosomal dominant semapv:ManualMappingCuration MONDO:0859175 nephronophthisis-like nephropathy 2 skos:exactMatch OMIM:619468 nephronophthisis-like nephropathy 2 semapv:ManualMappingCuration MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities skos:exactMatch OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities semapv:ManualMappingCuration MONDO:0859177 VISS syndrome skos:exactMatch OMIM:619472 VISS syndrome semapv:ManualMappingCuration MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities skos:exactMatch OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities semapv:ManualMappingCuration MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:ManualMappingCuration MONDO:0859180 bile acid malabsorption, primary, 2 skos:exactMatch OMIM:619481 bile acid malabsorption, primary, 2 semapv:ManualMappingCuration MONDO:0859181 DEGCAGS syndrome skos:exactMatch OMIM:619488 DEGCAGS syndrome semapv:ManualMappingCuration MONDO:0859182 Short stature, Dauber-Argente type skos:exactMatch OMIM:619489 short stature, dauber-argente type semapv:ManualMappingCuration MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to skos:exactMatch OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to semapv:ManualMappingCuration MONDO:0859184 ventriculomegaly and arthrogryposis skos:exactMatch OMIM:619501 ventriculomegaly and arthrogryposis semapv:ManualMappingCuration MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies skos:exactMatch OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies semapv:ManualMappingCuration MONDO:0859186 Chopra-Amiel-Gordon syndrome skos:exactMatch OMIM:619504 chopra-amiel-gordon syndrome semapv:ManualMappingCuration MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities skos:exactMatch OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities semapv:ManualMappingCuration MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities skos:exactMatch OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities semapv:ManualMappingCuration MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome skos:exactMatch OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome semapv:ManualMappingCuration MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities skos:exactMatch OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities semapv:ManualMappingCuration MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome skos:exactMatch OMIM:619534 biliary, renal, neurologic, and skeletal syndrome semapv:ManualMappingCuration MONDO:0859192 cerebral cavernous malformation 4 skos:exactMatch OMIM:619538 cerebral cavernous malformations 4 semapv:ManualMappingCuration MONDO:0859194 Boudin-Mortier syndrome skos:exactMatch OMIM:619543 boudin-mortier syndrome semapv:ManualMappingCuration MONDO:0859196 Usmani-Riazuddin syndrome, autosomal recessive skos:exactMatch OMIM:619548 usmani-riazuddin syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:ManualMappingCuration MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies skos:exactMatch OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies semapv:ManualMappingCuration MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities skos:exactMatch OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities semapv:ManualMappingCuration MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects semapv:ManualMappingCuration MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures skos:exactMatch OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures semapv:ManualMappingCuration MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities skos:exactMatch OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities semapv:ManualMappingCuration MONDO:0859203 rhizomelic dysplasia, Ain-Naz type skos:exactMatch OMIM:619598 rhizomelic dysplasia, ain-naz type semapv:ManualMappingCuration MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies skos:exactMatch OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies semapv:ManualMappingCuration MONDO:0859205 delayed puberty, self-limited skos:exactMatch OMIM:619613 delayed puberty, self-limited semapv:ManualMappingCuration MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity semapv:ManualMappingCuration MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay skos:exactMatch OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay semapv:ManualMappingCuration MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch OMIM:619641 hengel-maroofian-schols syndrome semapv:ManualMappingCuration MONDO:0859209 Zaki syndrome skos:exactMatch OMIM:619648 zaki syndrome semapv:ManualMappingCuration MONDO:0859210 chromosome 16q12 duplication syndrome skos:exactMatch OMIM:619649 chromosome 16q12 duplication syndrome semapv:ManualMappingCuration MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia skos:exactMatch OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia semapv:ManualMappingCuration MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus skos:exactMatch OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus semapv:ManualMappingCuration MONDO:0859213 congenital heart defects, multiple types, 8, with or without heterotaxy skos:exactMatch OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy semapv:ManualMappingCuration MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome skos:exactMatch OMIM:619680 marbach-schaaf neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch OMIM:619681 dystonia, early-onset, and/or spastic paraplegia semapv:ManualMappingCuration MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis skos:exactMatch OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis semapv:ManualMappingCuration MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome skos:exactMatch OMIM:619690 brunet-wagner neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859218 developmental delay with variable neurologic and brain abnormalities skos:exactMatch OMIM:619694 developmental delay with variable neurologic and brain abnormalities semapv:ManualMappingCuration MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch OMIM:619695 rauch-steindl syndrome semapv:ManualMappingCuration MONDO:0859220 Ferguson-Bonni neurodevelopmental syndrome skos:exactMatch OMIM:619699 ferguson-bonni neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch OMIM:619701 yoon-bellen neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:exactMatch OMIM:619702 heterotaxy, visceral, 12, autosomal semapv:ManualMappingCuration MONDO:0859223 congenital disorder of glycosylation, type Iw, autosomal dominant skos:exactMatch OMIM:619714 congenital disorder of glycosylation, type iw, autosomal dominant semapv:ManualMappingCuration MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch OMIM:619719 intellectual disability and myopathy syndrome semapv:ManualMappingCuration MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities skos:exactMatch OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities semapv:ManualMappingCuration MONDO:0859226 craniotubular dysplasia, Ikegawa type skos:exactMatch OMIM:619727 craniotubular dysplasia, ikegawa type semapv:ManualMappingCuration MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch OMIM:619743 combined oxidative phosphorylation deficiency 55 semapv:ManualMappingCuration MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism skos:exactMatch OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism semapv:ManualMappingCuration MONDO:0859230 Kury-Isidor syndrome skos:exactMatch OMIM:619762 kury-isidor syndrome semapv:ManualMappingCuration MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin skos:exactMatch OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin semapv:ManualMappingCuration MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies skos:exactMatch OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies semapv:ManualMappingCuration MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia skos:exactMatch OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia semapv:ManualMappingCuration MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:exactMatch OMIM:619824 agammaglobulinemia 8b, autosomal recessive semapv:ManualMappingCuration MONDO:0859235 auditory neuropathy, autosomal dominant 3 skos:exactMatch OMIM:619832 auditory neuropathy, autosomal dominant 3 semapv:ManualMappingCuration MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities skos:exactMatch OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities semapv:ManualMappingCuration MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:exactMatch OMIM:619835 3-methylglutaconic aciduria, type 7a semapv:ManualMappingCuration MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate skos:exactMatch OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate semapv:ManualMappingCuration MONDO:0859239 Chilton-Okur-Chung neurodevelopmental syndrome skos:exactMatch OMIM:619841 chilton-okur-chung neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy semapv:ManualMappingCuration MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly skos:exactMatch OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly semapv:ManualMappingCuration MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch OMIM:619851 leukodystrophy, hypomyelinating, 24 semapv:ManualMappingCuration MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities skos:exactMatch OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities semapv:ManualMappingCuration MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency semapv:ManualMappingCuration MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 semapv:ManualMappingCuration MONDO:0859246 leukodystrophy, childhood-onset, remitting skos:exactMatch OMIM:619864 leukodystrophy, childhood-onset, remitting semapv:ManualMappingCuration MONDO:0859247 neurocardiofaciodigital syndrome skos:exactMatch OMIM:619869 neurocardiofaciodigital syndrome semapv:ManualMappingCuration MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet skos:exactMatch OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet semapv:ManualMappingCuration MONDO:0859249 parenti-mignot neurodevelopmental syndrome skos:exactMatch OMIM:619873 parenti-mignot neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures skos:exactMatch OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures semapv:ManualMappingCuration MONDO:0859251 Dentici-Novelli neurodevelopmental syndrome skos:exactMatch OMIM:619877 dentici-novelli neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies skos:exactMatch OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies semapv:ManualMappingCuration MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay skos:exactMatch OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay semapv:ManualMappingCuration MONDO:0859254 hepatorenocardiac degenerative fibrosis skos:exactMatch OMIM:619902 hepatorenocardiac degenerative fibrosis semapv:ManualMappingCuration MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive skos:exactMatch OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive semapv:ManualMappingCuration MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch OMIM:619908 neurodevelopmental disorder with language delay and seizures semapv:ManualMappingCuration MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:exactMatch OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism semapv:ManualMappingCuration MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:exactMatch OMIM:619922 neurodevelopmental disorder with dystonia and seizures semapv:ManualMappingCuration MONDO:0859260 Dworschak-Punetha neurodevelopmental syndrome skos:exactMatch OMIM:619955 dworschak-punetha neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0859261 attention deficit-hyperactivity disorder 8 skos:exactMatch OMIM:619957 attention deficit-hyperactivity disorder 8 semapv:ManualMappingCuration MONDO:0859262 ACCES syndrome skos:exactMatch OMIM:619959 ACCES syndrome semapv:ManualMappingCuration MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures skos:exactMatch OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures semapv:ManualMappingCuration MONDO:0859264 congenital myopathy 11 skos:exactMatch OMIM:619967 congenital myopathy 11 semapv:ManualMappingCuration MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy skos:exactMatch OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy semapv:ManualMappingCuration MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy skos:exactMatch OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy semapv:ManualMappingCuration MONDO:0859267 tumor predisposition syndrome 2 skos:exactMatch OMIM:619975 tumor predisposition syndrome 2 semapv:ManualMappingCuration MONDO:0859271 glycosylphosphatidylinositol biosynthesis defect 25 skos:exactMatch OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 semapv:ManualMappingCuration MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies skos:exactMatch OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies semapv:ManualMappingCuration MONDO:0859273 liver disease, severe congenital skos:exactMatch OMIM:619991 liver disease, severe congenital semapv:ManualMappingCuration MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies skos:exactMatch OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies semapv:ManualMappingCuration MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities skos:exactMatch OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities semapv:ManualMappingCuration MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome skos:exactMatch OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome semapv:ManualMappingCuration MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects skos:exactMatch OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects semapv:ManualMappingCuration MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive semapv:ManualMappingCuration MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch OMIM:620011 neuronopathy, distal hereditary motor, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0859280 developmental delay, hypotonia, and impaired language skos:exactMatch OMIM:620012 developmental delay, hypotonia, and impaired language semapv:ManualMappingCuration MONDO:0859281 intellectual developmental disorder with autism and dysmorphic facies skos:exactMatch OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies semapv:ManualMappingCuration MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures skos:exactMatch OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures semapv:ManualMappingCuration MONDO:0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities skos:exactMatch OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities semapv:ManualMappingCuration MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay skos:exactMatch OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay semapv:ManualMappingCuration MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:ManualMappingCuration MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language skos:exactMatch OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language semapv:ManualMappingCuration MONDO:0859288 bone marrow failure and diabetes mellitus syndrome skos:exactMatch OMIM:620044 bone marrow failure and diabetes mellitus syndrome semapv:ManualMappingCuration MONDO:0859289 intestinal dysmotility syndrome skos:exactMatch OMIM:620045 intestinal dysmotility syndrome semapv:ManualMappingCuration MONDO:0859290 familial apolipoprotein gene cluster deletion syndrome skos:exactMatch OMIM:620058 familial apolipoprotein gene cluster deletion syndrome semapv:ManualMappingCuration MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:exactMatch OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders semapv:ManualMappingCuration MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment skos:exactMatch OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment semapv:ManualMappingCuration MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:ManualMappingCuration MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch OMIM:620071 birk-aharoni syndrome semapv:ManualMappingCuration MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities semapv:ManualMappingCuration MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly semapv:ManualMappingCuration MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch OMIM:620080 neuronopathy, distal hereditary motor, autosomal dominant 10 semapv:ManualMappingCuration MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects semapv:ManualMappingCuration MONDO:0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 skos:exactMatch OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 semapv:ManualMappingCuration MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:ManualMappingCuration MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction skos:exactMatch OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction semapv:ManualMappingCuration MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:ManualMappingCuration MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:exactMatch OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies semapv:ManualMappingCuration MONDO:0859307 cleidocranial dysplasia 2 skos:exactMatch OMIM:620099 cleidocranial dysplasia 2 semapv:ManualMappingCuration MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch OMIM:620102 retinitis pigmentosa 95 semapv:ManualMappingCuration MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch OMIM:620106 spastic paraplegia 88, autosomal dominant semapv:ManualMappingCuration MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch OMIM:620107 orofaciodigital syndrome 19 semapv:ManualMappingCuration MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J skos:exactMatch OMIM:620111 charcot-marie-tooth disease, demyelinating, type 1j semapv:ManualMappingCuration MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities skos:exactMatch OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities semapv:ManualMappingCuration MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:exactMatch OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures semapv:ManualMappingCuration MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch OMIM:620115 developmental and epileptic encephalopathy 108 semapv:ManualMappingCuration MONDO:0859316 iron overload, susceptibility to skos:exactMatch OMIM:620121 iron overload, susceptibility to semapv:ManualMappingCuration MONDO:0859317 pseudohypoaldosteronism, type IB2, autosomal recessive skos:exactMatch OMIM:620125 pseudohypoaldosteronism, type ib2, autosomal recessive semapv:ManualMappingCuration MONDO:0859318 pseudohypoaldosteronism, type IB3, autosomal recessive skos:exactMatch OMIM:620126 pseudohypoaldosteronism, type ib3, autosomal recessive semapv:ManualMappingCuration MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch OMIM:620133 dyskeratosis congenita, autosomal recessive 8 semapv:ManualMappingCuration MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:exactMatch OMIM:620135 mitochondrial complex 1 deficiency, nuclear type 39 semapv:ManualMappingCuration MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 skos:exactMatch OMIM:620137 mitochondrial complex 3 deficiency, nuclear type 11 semapv:ManualMappingCuration MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis skos:exactMatch OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 semapv:ManualMappingCuration MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch OMIM:620139 combined oxidative phosphorylation deficiency 56 semapv:ManualMappingCuration MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:exactMatch OMIM:620141 developmental delay, language impairment, and ocular abnormalities semapv:ManualMappingCuration MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch OMIM:620145 developmental and epileptic encephalopathy 109 semapv:ManualMappingCuration MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch OMIM:620149 developmental and epileptic encephalopathy 110 semapv:ManualMappingCuration MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:ManualMappingCuration MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch OMIM:620153 mosaic variegated aneuploidy syndrome 4 semapv:ManualMappingCuration MONDO:0859330 oocyte maturation defect 13 skos:exactMatch OMIM:620154 oocyte/zygote/embryo maturation arrest 13 semapv:ManualMappingCuration MONDO:0859331 Rabin-Pappas syndrome skos:exactMatch OMIM:620155 rabin-pappas syndrome semapv:ManualMappingCuration MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 semapv:ManualMappingCuration MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch OMIM:620157 intellectual developmental disorder, autosomal dominant 70 semapv:ManualMappingCuration MONDO:0859334 spinocerebellar ataxia 50 skos:exactMatch OMIM:620158 spinocerebellar ataxia 50 semapv:ManualMappingCuration MONDO:0859335 congenital myopathy 15 skos:exactMatch OMIM:620161 congenital myopathy 15 semapv:ManualMappingCuration MONDO:0859336 muscular dystrophy, congenital, with or without seizures skos:exactMatch OMIM:620166 muscular dystrophy, congenital, with or without seizures semapv:ManualMappingCuration MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch OMIM:620167 combined oxidative phosphorylation deficiency 57 semapv:ManualMappingCuration MONDO:0859338 spermatogenic failure 78 skos:exactMatch OMIM:620170 spermatogenic failure 78 semapv:ManualMappingCuration MONDO:0859339 tooth agenesis, selective, 10 skos:exactMatch OMIM:620173 tooth agenesis, selective, 10 semapv:ManualMappingCuration MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch OMIM:620174 spinocerebellar ataxia 27b, late-onset semapv:ManualMappingCuration MONDO:0859341 hypotrichosis 15 skos:exactMatch OMIM:620177 hypotrichosis 15 semapv:ManualMappingCuration MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch OMIM:620183 microcephaly 30, primary, autosomal recessive semapv:ManualMappingCuration MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:ManualMappingCuration MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities skos:exactMatch OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities semapv:ManualMappingCuration MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies skos:exactMatch OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies semapv:ManualMappingCuration MONDO:0859351 obesity and hypopigmentation skos:exactMatch OMIM:620195 obesity and hypopigmentation semapv:ManualMappingCuration MONDO:0859352 spermatogenic failure 79 skos:exactMatch OMIM:620196 spermatogenic failure 79 semapv:ManualMappingCuration MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus semapv:ManualMappingCuration MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:exactMatch OMIM:620198 thyroid hormone metabolism, abnormal, 3 semapv:ManualMappingCuration MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:ManualMappingCuration MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch OMIM:620200 congenital disorder of glycosylation, type iiy semapv:ManualMappingCuration MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch OMIM:620201 congenital disorder of glycosylation, type iiz semapv:ManualMappingCuration MONDO:0859358 cardiomyopathy, dilated, 2H skos:exactMatch OMIM:620203 cardiomyopathy, dilated, 2h semapv:ManualMappingCuration MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 semapv:ManualMappingCuration MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia skos:exactMatch OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia semapv:ManualMappingCuration MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 semapv:ManualMappingCuration MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia semapv:ManualMappingCuration MONDO:0859364 spermatogenic failure 80 skos:exactMatch OMIM:620222 spermatogenic failure 80 semapv:ManualMappingCuration MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures skos:exactMatch OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures semapv:ManualMappingCuration MONDO:0859366 hearing loss, autosomal dominant 85 skos:exactMatch OMIM:620227 deafness, autosomal dominant 85 semapv:ManualMappingCuration MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch OMIM:620228 retinitis pigmentosa 96 semapv:ManualMappingCuration MONDO:0859368 short QT syndrome 7 skos:exactMatch OMIM:620231 short qt syndrome 7 semapv:ManualMappingCuration MONDO:0859369 joint contractures, osteochondromas, and B-cell lymphoma skos:exactMatch OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma semapv:ManualMappingCuration MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea skos:exactMatch OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea semapv:ManualMappingCuration MONDO:0859371 rhabdomyolysis, susceptibility to, 1 skos:exactMatch OMIM:620235 rhabdomyolysis, susceptibility to, 1 semapv:ManualMappingCuration MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:ManualMappingCuration MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch OMIM:620237 intellectual developmental disorder, autosomal recessive 78 semapv:ManualMappingCuration MONDO:0859374 hearing loss, autosomal recessive 120 skos:exactMatch OMIM:620238 deafness, autosomal recessive 120 semapv:ManualMappingCuration MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities skos:exactMatch OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities semapv:ManualMappingCuration MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch OMIM:620241 hydrocephalus, congenital, 5, susceptibility to semapv:ManualMappingCuration MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:ManualMappingCuration MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch OMIM:620243 leukodystrophy, hypomyelinating, 25 semapv:ManualMappingCuration MONDO:0859379 lymphatic malformation 13 skos:exactMatch OMIM:620244 lymphatic malformation 13 semapv:ManualMappingCuration MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch OMIM:620245 episodic kinesigenic dyskinesia 3 semapv:ManualMappingCuration MONDO:0859381 cardiomyopathy, dilated, 100 skos:exactMatch OMIM:620247 cardiomyopathy, dilated, 1oo semapv:ManualMappingCuration MONDO:0859382 cataract 50 with or without glaucoma skos:exactMatch OMIM:620253 cataract 50 with or without glaucoma semapv:ManualMappingCuration MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch OMIM:301099 spermatogenic failure, x-linked, 5 semapv:ManualMappingCuration MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch OMIM:301101 spermatogenic failure, x-linked, 6 semapv:ManualMappingCuration MONDO:0859514 congenital myopathy 18 skos:exactMatch OMIM:620246 congenital myopathy 18 semapv:ManualMappingCuration MONDO:0859515 congenital myopathy 10b, mild variant skos:exactMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:ManualMappingCuration MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum skos:exactMatch OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum semapv:ManualMappingCuration MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive skos:exactMatch OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive semapv:ManualMappingCuration MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia skos:exactMatch OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia semapv:ManualMappingCuration MONDO:0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities skos:exactMatch OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities semapv:ManualMappingCuration MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch OMIM:620275 mitochondrial complex 4 deficiency, nuclear type 23 semapv:ManualMappingCuration MONDO:0859521 oocyte maturation defect 14 skos:exactMatch OMIM:620276 oocyte/zygote/embryo maturation arrest 14 semapv:ManualMappingCuration MONDO:0859522 spermatogenic failure 81 skos:exactMatch OMIM:620277 spermatogenic failure 81 semapv:ManualMappingCuration MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant skos:exactMatch OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant semapv:ManualMappingCuration MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch OMIM:620280 deafness, autosomal dominant 86 semapv:ManualMappingCuration MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch OMIM:620281 deafness, autosomal dominant 87 semapv:ManualMappingCuration MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:exactMatch OMIM:620282 immunodeficiency 109 with lymphoproliferation semapv:ManualMappingCuration MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch OMIM:620283 deafness, autosomal dominant 88 semapv:ManualMappingCuration MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch OMIM:620284 deafness, autosomal dominant 89 semapv:ManualMappingCuration MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch OMIM:620285 amyotrophic lateral sclerosis 27, juvenile semapv:ManualMappingCuration MONDO:0859530 myopathy, sarcoplasmic body skos:exactMatch OMIM:620286 myopathy, sarcoplasmic body semapv:ManualMappingCuration MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures skos:exactMatch OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures semapv:ManualMappingCuration MONDO:0859532 congenital heart defects, multiple types, 9 skos:exactMatch OMIM:620294 congenital heart defects, multiple types, 9 semapv:ManualMappingCuration MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features skos:exactMatch OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features semapv:ManualMappingCuration MONDO:0859565 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:ManualMappingCuration MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 semapv:ManualMappingCuration MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch OMIM:619977 macular dystrophy, retinal, 4 semapv:ManualMappingCuration MONDO:0859569 Braddock-Carey syndrome 1 skos:exactMatch OMIM:619980 braddock-carey syndrome 1 semapv:ManualMappingCuration MONDO:0859570 braddock-carey syndrome 2 skos:exactMatch OMIM:619981 braddock-carey syndrome 2 semapv:ManualMappingCuration MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects skos:exactMatch OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects semapv:ManualMappingCuration MONDO:0859572 cardiac valvular dysplasia 2 skos:exactMatch OMIM:620067 cardiac valvular dysplasia 2 semapv:ManualMappingCuration MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch OMIM:620076 bent bone dysplasia syndrome 2 semapv:ManualMappingCuration MONDO:0859574 ichthyosis, annular epidermolytic, 2 skos:exactMatch OMIM:620148 ichthyosis, annular epidermolytic, 2 semapv:ManualMappingCuration MONDO:0859575 Atelis syndrome 1 skos:exactMatch OMIM:620184 atelis syndrome 1 semapv:ManualMappingCuration MONDO:0859576 Atelis syndrome 2 skos:exactMatch OMIM:620185 atelis syndrome 2 semapv:ManualMappingCuration MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch OMIM:620192 lacrimoauriculodentodigital syndrome 2 semapv:ManualMappingCuration MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch OMIM:620193 lacrimoauriculodentodigital syndrome 3 semapv:ManualMappingCuration MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch OMIM:301106 spermatogenic failure, x-linked, 7 semapv:ManualMappingCuration MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch OMIM:301107 intellectual developmental disorder, X-linked 111 semapv:ManualMappingCuration MONDO:0957204 autoinflammation with pulmonary and cutaneous vasculitis skos:exactMatch OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis semapv:ManualMappingCuration MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 skos:exactMatch OMIM:620303 pituitary hormone deficiency, combined or isolated, 8 semapv:ManualMappingCuration MONDO:0957210 neurooculorenal syndrome skos:exactMatch OMIM:620305 neurooculorenal syndrome semapv:ManualMappingCuration MONDO:0957211 neurodegeneration and seizures due to copper transport defect skos:exactMatch OMIM:620306 neurodegeneration and seizures due to copper transport defect semapv:ManualMappingCuration MONDO:0957215 congenital myopathy 20 skos:exactMatch OMIM:620310 congenital myopathy 20 semapv:ManualMappingCuration MONDO:0957216 premature ovarian failure 21 skos:exactMatch OMIM:620311 premature ovarian failure 21 semapv:ManualMappingCuration MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 skos:exactMatch OMIM:620316 cortical dysplasia, complex, with other brain malformations 12 semapv:ManualMappingCuration MONDO:0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities skos:exactMatch OMIM:620317 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities semapv:ManualMappingCuration MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 skos:exactMatch OMIM:620319 oocyte/zygote/embryo maturation arrest 17 semapv:ManualMappingCuration MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:exactMatch OMIM:620323 spastic paraplegia 70, autosomal recessive semapv:ManualMappingCuration MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch OMIM:620326 congenital myopathy 21 with early respiratory failure semapv:ManualMappingCuration MONDO:0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities skos:exactMatch OMIM:620327 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities semapv:ManualMappingCuration MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities skos:exactMatch OMIM:620330 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities semapv:ManualMappingCuration MONDO:0957229 hatipoglu immunodeficiency syndrome skos:exactMatch OMIM:620331 hatipoglu immunodeficiency syndrome semapv:ManualMappingCuration MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 skos:exactMatch OMIM:620332 oocyte/zygote/embryo maturation arrest 18 semapv:ManualMappingCuration MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 skos:exactMatch OMIM:620333 oocyte/zygote/embryo maturation arrest 19 semapv:ManualMappingCuration MONDO:0957240 cone-rod dystrophy 24 skos:exactMatch OMIM:620342 cone-rod dystrophy 24 semapv:ManualMappingCuration MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch OMIM:620351 congenital myopathy 22a, classic semapv:ManualMappingCuration MONDO:0957248 developmental and epileptic encephalopathy, 31B skos:exactMatch OMIM:620352 developmental and epileptic encephalopathy 31b semapv:ManualMappingCuration MONDO:0957249 spermatogenic failure 82 skos:exactMatch OMIM:620353 spermatogenic failure 82 semapv:ManualMappingCuration MONDO:0957250 spermatogenic failure 83 skos:exactMatch OMIM:620354 spermatogenic failure 83 semapv:ManualMappingCuration MONDO:0957252 ciliary dyskinesia, primary, 50 skos:exactMatch OMIM:620356 ciliary dyskinesia, primary, 50 semapv:ManualMappingCuration MONDO:0957253 diarrhea 13 skos:exactMatch OMIM:620357 diarrhea 13 semapv:ManualMappingCuration MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch OMIM:620358 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4a semapv:ManualMappingCuration MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch OMIM:620359 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 7 semapv:ManualMappingCuration MONDO:0957260 combined low LDL and fibrinogen skos:exactMatch OMIM:620364 combined low ldl and fibrinogen semapv:ManualMappingCuration MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 skos:exactMatch OMIM:620365 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 semapv:ManualMappingCuration MONDO:0957262 osteopetrosis, autosomal recessive 9 skos:exactMatch OMIM:620366 osteopetrosis, autosomal recessive 9 semapv:ManualMappingCuration MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 skos:exactMatch OMIM:620367 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 semapv:ManualMappingCuration MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 skos:exactMatch OMIM:620368 cerebroretinal microangiopathy with calcifications and cysts 3 semapv:ManualMappingCuration MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch OMIM:620369 congenital myopathy 22b, severe fetal semapv:ManualMappingCuration MONDO:0957266 RECON progeroid syndrome skos:exactMatch OMIM:620370 RECON progeroid syndrome semapv:ManualMappingCuration MONDO:0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity skos:exactMatch OMIM:620371 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity semapv:ManualMappingCuration MONDO:0957268 hypersulfaturia skos:exactMatch OMIM:620372 hypersulfaturia semapv:ManualMappingCuration MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch OMIM:620375 muscular dystrophy, limb-girdle, autosomal recessive 28 semapv:ManualMappingCuration MONDO:0957271 autoinflammatory disease, systemic, with vasculitis skos:exactMatch OMIM:620376 autoinflammatory disease, systemic, with vasculitis semapv:ManualMappingCuration MONDO:0957273 Charcot-Marie-Tooth disease, dominant intermediate A skos:exactMatch OMIM:620378 charcot-marie-tooth disease, dominant intermediate a semapv:ManualMappingCuration MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch OMIM:620379 spastic paraplegia 89, autosomal recessive semapv:ManualMappingCuration MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 skos:exactMatch OMIM:620383 oocyte/zygote/embryo maturation arrest 20 semapv:ManualMappingCuration MONDO:0957279 auditory neuropathy, autosomal dominant 2 skos:exactMatch OMIM:620384 auditory neuropathy, autosomal dominant 2 semapv:ManualMappingCuration MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch OMIM:620386 nemaline myopathy 5b, autosomal recessive, childhood-onset semapv:ManualMappingCuration MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch OMIM:620389 nemaline myopathy 5c, autosomal dominant semapv:ManualMappingCuration MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 skos:exactMatch OMIM:620393 intellectual developmental disorder, autosomal recessive 79 semapv:ManualMappingCuration MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 skos:exactMatch OMIM:620400 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 semapv:ManualMappingCuration MONDO:0957301 spermatogenic failure 84 skos:exactMatch OMIM:620409 spermatogenic failure 84 semapv:ManualMappingCuration MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 semapv:ManualMappingCuration MONDO:0957307 woolly hair-skin fragility syndrome skos:exactMatch OMIM:620415 woolly hair-skin fragility syndrome semapv:ManualMappingCuration MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch OMIM:620416 spastic paraplegia 90a, autosomal dominant semapv:ManualMappingCuration MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch OMIM:620417 spastic paraplegia 90b, autosomal recessive semapv:ManualMappingCuration MONDO:0957314 retinitis pigmentosa 97 skos:exactMatch OMIM:620422 retinitis pigmentosa 97 semapv:ManualMappingCuration MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 skos:exactMatch OMIM:620423 multiple mitochondrial dysfunctions syndrome 7 semapv:ManualMappingCuration MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch OMIM:620427 dystonia 37, early-onset, with striatal lesions semapv:ManualMappingCuration MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch OMIM:620428 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:ManualMappingCuration MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 skos:exactMatch OMIM:620430 autoimmune disease, multisystem, infantile-onset, 3 semapv:ManualMappingCuration MONDO:0957396 ciliary dyskinesia, primary, 51 skos:exactMatch OMIM:620438 ciliary dyskinesia, primary, 51 semapv:ManualMappingCuration MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch OMIM:620439 intellectual developmental disorder, autosomal dominant 72 semapv:ManualMappingCuration MONDO:0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked skos:exactMatch OMIM:301109 autoinflammatory disease, multisystem, with immune dysregulation, X-linked semapv:ManualMappingCuration MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature skos:exactMatch OMIM:301110 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature semapv:ManualMappingCuration MONDO:0957496 intellectual developmental disorder, X-linked 112 skos:exactMatch OMIM:301111 intellectual developmental disorder, X-linked 112 semapv:ManualMappingCuration MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch OMIM:620443 disabling pansclerotic morphea of childhood semapv:ManualMappingCuration MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 skos:exactMatch OMIM:620442 breast-ovarian cancer, familial, susceptibility to, 5 semapv:ManualMappingCuration MONDO:0957531 neurodevelopmental disorder with microcephaly and movement abnormalities skos:exactMatch OMIM:620445 neurodevelopmental disorder with microcephaly and movement abnormalities semapv:ManualMappingCuration MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 skos:exactMatch OMIM:620447 megalencephalic leukoencephalopathy with subcortical cysts 3 semapv:ManualMappingCuration MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting skos:exactMatch OMIM:620448 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting semapv:ManualMappingCuration MONDO:0957535 immunodeficiency 112 skos:exactMatch OMIM:620449 immunodeficiency 112 semapv:ManualMappingCuration MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 skos:exactMatch OMIM:620450 intellectual developmental disorder, autosomal dominant 73 semapv:ManualMappingCuration MONDO:0957537 combined oxidative phosphorylation deficiency 58 skos:exactMatch OMIM:620451 combined oxidative phosphorylation deficiency 58 semapv:ManualMappingCuration MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch OMIM:620452 amyotrophic lateral sclerosis 28 semapv:ManualMappingCuration MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch OMIM:620453 dystonia 22, juvenile-onset semapv:ManualMappingCuration MONDO:0957540 congenital disorder of glycosylation, type IIaa skos:exactMatch OMIM:620454 congenital disorder of glycosylation, type iiaa semapv:ManualMappingCuration MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch OMIM:620455 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures semapv:ManualMappingCuration MONDO:0957542 dystonia 22, adult-onset skos:exactMatch OMIM:620456 dystonia 22, adult-onset semapv:ManualMappingCuration MONDO:0957543 auriculocondylar syndrome 4 skos:exactMatch OMIM:620457 auriculocondylar syndrome 4 semapv:ManualMappingCuration MONDO:0957544 auriculocondylar syndrome 2B skos:exactMatch OMIM:620458 auriculocondylar syndrome 2b semapv:ManualMappingCuration MONDO:0957545 cardiomyopathy, dilated, 2I skos:exactMatch OMIM:620462 cardiomyopathy, dilated, 2i semapv:ManualMappingCuration MONDO:0957560 hearing loss, noise-induced, susceptibility to skos:exactMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:ManualMappingCuration MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 skos:exactMatch OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 semapv:ManualMappingCuration MONDO:0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay skos:exactMatch OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay semapv:ManualMappingCuration MONDO:0957564 congenital smooth muscle hamartoma, with or without hemihypertrophy skos:exactMatch OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy semapv:ManualMappingCuration MONDO:0957572 thrombocytopenia 9 skos:exactMatch OMIM:620478 thrombocytopenia 9 semapv:ManualMappingCuration MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 semapv:ManualMappingCuration MONDO:0957576 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development semapv:ManualMappingCuration MONDO:0957577 variegate porphyria, childhood-onset skos:exactMatch OMIM:620483 variegate porphyria, childhood-onset semapv:ManualMappingCuration MONDO:0957578 thrombocytopenia 10 skos:exactMatch OMIM:620484 thrombocytopenia 10 semapv:ManualMappingCuration MONDO:0957580 bleeding disorder, platelet-type, 25 skos:exactMatch OMIM:620486 bleeding disorder, platelet-type, 25 semapv:ManualMappingCuration MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:620489 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:ManualMappingCuration MONDO:0957584 spermatogenic failure 85 skos:exactMatch OMIM:620490 spermatogenic failure 85 semapv:ManualMappingCuration MONDO:0957588 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies skos:exactMatch OMIM:620494 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies semapv:ManualMappingCuration MONDO:0957593 spermatogenic failure 86 skos:exactMatch OMIM:620499 spermatogenic failure 86 semapv:ManualMappingCuration MONDO:0957594 spermatogenic failure 87 skos:exactMatch OMIM:620500 spermatogenic failure 87 semapv:ManualMappingCuration MONDO:0957595 Ziegler-Huang syndrome skos:exactMatch OMIM:620501 ziegler-huang syndrome semapv:ManualMappingCuration MONDO:0957779 neurodevelopmental disorder with language delay and variable cognitive abnormalities skos:exactMatch OMIM:620502 neurodevelopmental disorder with language delay and variable cognitive abnormalities semapv:ManualMappingCuration MONDO:0957780 developmental and epileptic encephalopathy 111 skos:exactMatch OMIM:620504 developmental and epileptic encephalopathy 111 semapv:ManualMappingCuration MONDO:0957783 ichthyosis with erythrokeratoderma skos:exactMatch OMIM:620507 ichthyosis with erythrokeratoderma semapv:ManualMappingCuration MONDO:0957786 xerosis and growth failure with immune and pulmonary dysfunction syndrome skos:exactMatch OMIM:620510 xerosis and growth failure with immune and pulmonary dysfunction syndrome semapv:ManualMappingCuration MONDO:0957787 Fliedner-Zweier syndrome skos:exactMatch OMIM:620511 fliedner-zweier syndrome semapv:ManualMappingCuration MONDO:0957788 spastic paraplegia 18a, autosomal dominant skos:exactMatch OMIM:620512 spastic paraplegia 18a, autosomal dominant semapv:ManualMappingCuration MONDO:0957790 immune dysregulation, autoimmunity, and autoinflammation skos:exactMatch OMIM:620514 immune dysregulation, autoimmunity, and autoinflammation semapv:ManualMappingCuration MONDO:0957791 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction skos:exactMatch OMIM:620515 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction semapv:ManualMappingCuration MONDO:0957795 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities skos:exactMatch OMIM:620519 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities semapv:ManualMappingCuration MONDO:0957807 hyper-IgE syndrome 6, autosomal dominant, with recurrent infections skos:exactMatch OMIM:620532 hyper-ige syndrome 6, autosomal dominant, with recurrent infections semapv:ManualMappingCuration MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive skos:exactMatch OMIM:620534 neutropenia, severe congenital, 10, autosomal recessive semapv:ManualMappingCuration MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch OMIM:620535 developmental delay, dysmorphic facies, and brain anomalies semapv:ManualMappingCuration MONDO:0957811 Alport syndrome 3b, autosomal recessive skos:exactMatch OMIM:620536 alport syndrome 3b, autosomal recessive semapv:ManualMappingCuration MONDO:0957812 developmental and epileptic encephalopathy 112 skos:exactMatch OMIM:620537 developmental and epileptic encephalopathy 112 semapv:ManualMappingCuration MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia skos:exactMatch OMIM:620538 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia semapv:ManualMappingCuration MONDO:0957815 developmental delay with or without epilepsy skos:exactMatch OMIM:620540 developmental delay with or without epilepsy semapv:ManualMappingCuration MONDO:0957819 arthrogryposis, distal, type 12 skos:exactMatch OMIM:620545 arthrogryposis, distal, type 12 semapv:ManualMappingCuration MONDO:0957820 congenital disorder of glycosylation, type IIbb skos:exactMatch OMIM:620546 congenital disorder of glycosylation, type iibb semapv:ManualMappingCuration MONDO:0957821 spermatogenic failure 88 skos:exactMatch OMIM:620547 spermatogenic failure 88 semapv:ManualMappingCuration MONDO:0957822 premature ovarian failure 22 skos:exactMatch OMIM:620548 premature ovarian failure 22 semapv:ManualMappingCuration MONDO:0957824 optic atrophy 14 skos:exactMatch OMIM:620550 optic atrophy 14 semapv:ManualMappingCuration MONDO:0957825 hearing loss, autosomal recessive 121 skos:exactMatch OMIM:620551 deafness, autosomal recessive 121 semapv:ManualMappingCuration MONDO:0957832 craniometadiaphyseal osteosclerosis with hip dysplasia skos:exactMatch OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia semapv:ManualMappingCuration MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:exactMatch OMIM:620312 leukoencephalopathy with vanishing white matter 2 semapv:ManualMappingCuration MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:exactMatch OMIM:620313 leukoencephalopathy with vanishing white matter 3 semapv:ManualMappingCuration MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:exactMatch OMIM:620314 leukoencephalopathy with vanishing white matter 4 semapv:ManualMappingCuration MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:exactMatch OMIM:620315 leukoencephalopathy with vanishing white matter 5 semapv:ManualMappingCuration MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 semapv:ManualMappingCuration MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch OMIM:620528 neuronopathy, distal hereditary motor, autosomal dominant 11 semapv:ManualMappingCuration MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch OMIM:620542 neuronopathy, distal hereditary motor, autosomal recessive 10 semapv:ManualMappingCuration MONDO:0957919 Lui-Jee-Baron syndrome skos:exactMatch OMIM:301114 lui-jee-baron syndrome semapv:ManualMappingCuration MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation skos:exactMatch OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation semapv:ManualMappingCuration MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch OMIM:620568 cornelia lange lange syndrome 6 semapv:ManualMappingCuration MONDO:0957922 ciliary dyskinesia, primary, 52 skos:exactMatch OMIM:620570 ciliary dyskinesia, primary, 52 semapv:ManualMappingCuration MONDO:0957928 otosclerosis 11 skos:exactMatch OMIM:620576 otosclerosis 11 semapv:ManualMappingCuration MONDO:0957935 optic atrophy 15 skos:exactMatch OMIM:620583 optic atrophy 15 semapv:ManualMappingCuration MONDO:0957953 Garg-Mishra progeroid syndrome skos:exactMatch OMIM:620601 garg-mishra progeroid syndrome semapv:ManualMappingCuration MONDO:0957954 lymphatic malformation 14 skos:exactMatch OMIM:620602 lymphatic malformation 14 semapv:ManualMappingCuration MONDO:0957955 immunodeficiency 114, folate-responsive skos:exactMatch OMIM:620603 immunodeficiency 114, folate-responsive semapv:ManualMappingCuration MONDO:0957958 spastic paraplegia 72b, autosomal recessive skos:exactMatch OMIM:620606 spastic paraplegia 72b, autosomal recessive semapv:ManualMappingCuration MONDO:0957960 Long-Olsen-Distelmaier syndrome skos:exactMatch OMIM:620609 long-olsen-distelmaier syndrome semapv:ManualMappingCuration MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 skos:exactMatch OMIM:620610 oocyte/zygote/embryo maturation arrest 21 semapv:ManualMappingCuration MONDO:0957978 optic atrophy 16 skos:exactMatch OMIM:620629 optic atrophy 16 semapv:ManualMappingCuration MONDO:0957981 immunodeficiency 115 with autoinflammation skos:exactMatch OMIM:620632 immunodeficiency 115 with autoinflammation semapv:ManualMappingCuration MONDO:0957984 cardiomyopathy, dilated, 2j skos:exactMatch OMIM:620635 cardiomyopathy, dilated, 2j semapv:ManualMappingCuration MONDO:0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline skos:exactMatch OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline semapv:ManualMappingCuration MONDO:0957988 osteogenesis imperfecta, type 23 skos:exactMatch OMIM:620639 osteogenesis imperfecta, type 23 semapv:ManualMappingCuration MONDO:0957990 Tan-Almurshedi syndrome skos:exactMatch OMIM:620641 tan-almurshedi syndrome semapv:ManualMappingCuration MONDO:0957991 ciliary dyskinesia, primary, 53 skos:exactMatch OMIM:620642 ciliary dyskinesia, primary, 53 semapv:ManualMappingCuration MONDO:0957992 combined oxidative phosphorylation deficiency 59 skos:exactMatch OMIM:620646 combined oxidative phosphorylation deficiency 59 semapv:ManualMappingCuration MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 skos:exactMatch OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 semapv:ManualMappingCuration MONDO:0957997 diabetes, deafness, developmental delay, and short stature syndrome skos:exactMatch OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome semapv:ManualMappingCuration MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly skos:exactMatch OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly semapv:ManualMappingCuration MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies skos:exactMatch OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies semapv:ManualMappingCuration MONDO:0958001 Alfadhel syndrome skos:exactMatch OMIM:620655 alfadhel syndrome semapv:ManualMappingCuration MONDO:0958005 Hoxha-Aliu syndrome skos:exactMatch OMIM:620662 hoxha-aliu syndrome semapv:ManualMappingCuration MONDO:0958006 spondyloepimetaphyseal dysplasia, Guo-Campeau type skos:exactMatch OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau type semapv:ManualMappingCuration MONDO:0958009 spastic ataxia 10, autosomal recessive skos:exactMatch OMIM:620666 spastic ataxia 10, autosomal recessive semapv:ManualMappingCuration MONDO:0958011 immunodeficiency 117 skos:exactMatch OMIM:620668 immunodeficiency 117 semapv:ManualMappingCuration MONDO:0958012 neurodegeneration with brain iron accumulation 9 skos:exactMatch OMIM:620669 neurodegeneration with brain iron accumulation 9 semapv:ManualMappingCuration MONDO:0958013 immunodeficiency, common variable, 15 skos:exactMatch OMIM:620670 immunodeficiency, common variable, 15 semapv:ManualMappingCuration MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant skos:exactMatch OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant semapv:ManualMappingCuration MONDO:0958018 leukodystrophy, hypomyelinating, 27 skos:exactMatch OMIM:620675 leukodystrophy, hypomyelinating, 27 semapv:ManualMappingCuration MONDO:0958022 lipodystrophy, familial partial, type 8 skos:exactMatch OMIM:620679 lipodystrophy, familial partial, type 8 semapv:ManualMappingCuration MONDO:0958023 lipodystrophy, congenital generalized, type 5 skos:exactMatch OMIM:620680 lipodystrophy, congenital generalized, type 5 semapv:ManualMappingCuration MONDO:0958030 immunodeficiency 118 skos:exactMatch OMIM:301115 immunodeficiency 118 semapv:ManualMappingCuration MONDO:0958034 lipodystrophy, familial partial, type 9 skos:exactMatch OMIM:620683 lipodystrophy, familial partial, type 9 semapv:ManualMappingCuration MONDO:0958035 premature ovarian failure 23 skos:exactMatch OMIM:620686 premature ovarian failure 23 semapv:ManualMappingCuration MONDO:0958037 developmental dysplasia of the hip 3 skos:exactMatch OMIM:620690 developmental dysplasia of the hip 3 semapv:ManualMappingCuration MONDO:0958071 Hao-Fountain syndrome due to USP7 mutation skos:exactMatch OMIM:616863 hao-fountain syndrome semapv:ManualMappingCuration MONDO:0958174 basal cell nevus syndrome 1 skos:exactMatch OMIM:109400 basal cell nevus syndrome 1 semapv:ManualMappingCuration MONDO:0958175 craniofacial microsomia 1 skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:ManualMappingCuration MONDO:0958176 oculopharyngeal muscular dystrophy 1 skos:exactMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:ManualMappingCuration MONDO:0958177 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:ManualMappingCuration MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:ManualMappingCuration MONDO:0958179 glycine encephalopathy 1 skos:exactMatch OMIM:605899 glycine encephalopathy 1 semapv:ManualMappingCuration MONDO:0958180 prolonged electroretinal response suppression 1 skos:exactMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:ManualMappingCuration MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:exactMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:ManualMappingCuration MONDO:0958182 C1Q deficiency 1 skos:exactMatch OMIM:613652 c1q deficiency 1 semapv:ManualMappingCuration MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 skos:exactMatch OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 semapv:ManualMappingCuration MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:exactMatch OMIM:620300 mitochondrial trifunctional protein deficiency 2 semapv:ManualMappingCuration MONDO:0958186 hematuria, benign familial, 2 skos:exactMatch OMIM:620320 hematuria, benign familial, 2 semapv:ManualMappingCuration MONDO:0958187 C1Q deficiency 2 skos:exactMatch OMIM:620321 c1q deficiency 2 semapv:ManualMappingCuration MONDO:0958188 C1Q deficiency 3 skos:exactMatch OMIM:620322 c1q deficiency 3 semapv:ManualMappingCuration MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch OMIM:620343 basal cell nevus syndrome 2 semapv:ManualMappingCuration MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch OMIM:620344 prolonged electroretinal response suppression 2 semapv:ManualMappingCuration MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis skos:exactMatch OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis semapv:ManualMappingCuration MONDO:0958192 glycine encephalopathy 2 skos:exactMatch OMIM:620398 glycine encephalopathy 2 semapv:ManualMappingCuration MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 skos:exactMatch OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 semapv:ManualMappingCuration MONDO:0958194 craniofacial microsomia 2 skos:exactMatch OMIM:620444 craniofacial microsomia 2 semapv:ManualMappingCuration MONDO:0958195 oculopharyngeal muscular dystrophy 2 skos:exactMatch OMIM:620460 oculopharyngeal muscular dystrophy 2 semapv:ManualMappingCuration MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay semapv:ManualMappingCuration MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 skos:exactMatch OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 semapv:ManualMappingCuration MONDO:0958199 myoclonic epilepsy of Lafora 1 skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:ManualMappingCuration MONDO:0958200 intellectual developmental disorder, X-linked 113 skos:exactMatch OMIM:301116 intellectual developmental disorder, X-linked 113 semapv:ManualMappingCuration MONDO:0958202 moyamoya disease 7 skos:exactMatch OMIM:620687 moyamoya disease 7 semapv:ManualMappingCuration MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 skos:exactMatch OMIM:620688 intellectual developmental disorder, autosomal dominant 74 semapv:ManualMappingCuration MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 skos:exactMatch OMIM:620700 intellectual developmental disorder, autosomal recessive 81 semapv:ManualMappingCuration MONDO:0958205 Yuksel-Vogel-Bauer syndrome skos:exactMatch OMIM:620703 yuksel-vogel-bauer syndrome semapv:ManualMappingCuration MONDO:0958206 spermatogenic failure 89 skos:exactMatch OMIM:620705 spermatogenic failure 89 semapv:ManualMappingCuration MONDO:0958224 encephalopathy, porphyria-related skos:exactMatch OMIM:620704 encephalopathy, porphyria-related semapv:ManualMappingCuration MONDO:0958226 leukoencephalopathy, porphyria-related skos:exactMatch OMIM:620711 leukoencephalopathy, porphyria-related semapv:ManualMappingCuration MONDO:0958227 polydactyly-macrocephaly syndrome skos:exactMatch OMIM:620712 polydactyly-macrocephaly syndrome semapv:ManualMappingCuration MONDO:0958228 hearing loss, autosomal recessive 122 skos:exactMatch OMIM:620714 deafness, autosomal recessive 122 semapv:ManualMappingCuration MONDO:0958229 bleeding disorder, vascular-type skos:exactMatch OMIM:620715 bleeding disorder, vascular-type semapv:ManualMappingCuration MONDO:0958230 orofaciodigital syndrome 20 skos:exactMatch OMIM:620718 orofaciodigital syndrome 20 semapv:ManualMappingCuration MONDO:0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism skos:exactMatch OMIM:620719 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism semapv:ManualMappingCuration MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch OMIM:620722 deafness, autosomal dominant 90 semapv:ManualMappingCuration MONDO:0958233 Bethlem myopathy 1B skos:exactMatch OMIM:620725 bethlem myopathy 1b semapv:ManualMappingCuration MONDO:0958234 Bethlem myopathy 1C skos:exactMatch OMIM:620726 bethlem myopathy 1c semapv:ManualMappingCuration MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:exactMatch OMIM:620727 ullrich congenital muscular dystrophy 1b semapv:ManualMappingCuration MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:exactMatch OMIM:620728 ullrich congenital muscular dystrophy 1c semapv:ManualMappingCuration MONDO:0958237 isolated hyperferritinemia skos:exactMatch OMIM:620729 hyperferritinemia semapv:ManualMappingCuration MONDO:0958238 hyperemesis gravidarum, susceptibility to skos:exactMatch OMIM:620730 hyperemesis gravidarum, susceptibility to semapv:ManualMappingCuration MONDO:0958239 microphthalmia/coloboma 11 skos:exactMatch OMIM:620731 microphthalmia/coloboma 11 semapv:ManualMappingCuration MONDO:0958240 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities skos:exactMatch OMIM:620732 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities semapv:ManualMappingCuration MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial skos:exactMatch OMIM:620734 cardiomyopathy, familial hypertrophic, 30, atrial semapv:ManualMappingCuration MONDO:0958242 spermatogenic failure 90 skos:exactMatch OMIM:620744 spermatogenic failure 90 semapv:ManualMappingCuration MONDO:0958277 hearing loss, autosomal recessive 123 skos:exactMatch OMIM:620745 deafness, autosomal recessive 123 semapv:ManualMappingCuration MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:exactMatch OMIM:620746 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities semapv:ManualMappingCuration MONDO:0958279 megalencephaly-polydactyly syndrome skos:exactMatch OMIM:620748 megalencephaly-polydactyly syndrome semapv:ManualMappingCuration MONDO:0958322 intellectual developmental disorder, X-linked, syndromic 37 skos:exactMatch OMIM:301118 intellectual developmental disorder, x-linked, syndromic 37 semapv:ManualMappingCuration MONDO:0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities skos:exactMatch OMIM:620747 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities semapv:ManualMappingCuration MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 skos:exactMatch OMIM:620755 generalized epilepsy with febrile seizures plus, type 12 semapv:ManualMappingCuration MONDO:0958325 thrombocytopenia 12 with or without myopathy skos:exactMatch OMIM:620757 thrombocytopenia 12 with or without myopathy semapv:ManualMappingCuration MONDO:0958326 macular dystrophy with or without cone dysfunction skos:exactMatch OMIM:620762 macular dystrophy with or without cone dysfunction semapv:ManualMappingCuration MONDO:0958328 Seckel syndrome 11 skos:exactMatch OMIM:620767 seckel syndrome 11 semapv:ManualMappingCuration MONDO:0958329 Jeffries-Lakhani neurodevelopmental syndrome skos:exactMatch OMIM:620771 jeffries-lakhani neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0958330 developmental and epileptic encephalopathy 113 skos:exactMatch OMIM:620772 developmental and epileptic encephalopathy 113 semapv:ManualMappingCuration MONDO:0958331 developmental and epileptic encephalopathy 114 skos:exactMatch OMIM:620774 developmental and epileptic encephalopathy 114 semapv:ManualMappingCuration MONDO:0958332 neuromuscular disorder, congenital, with dysmorphic facies skos:exactMatch OMIM:620775 neuromuscular disorder, congenital, with dysmorphic facies semapv:ManualMappingCuration MONDO:0958333 thrombocytopenia 13, syndromic skos:exactMatch OMIM:620776 thrombocytopenia 13, syndromic semapv:ManualMappingCuration MONDO:0958334 pulmonary hypertension, primary, 6 skos:exactMatch OMIM:620777 pulmonary hypertension, primary, 6 semapv:ManualMappingCuration MONDO:0958335 cutis laxa, autosomal recessive, type 1d skos:exactMatch OMIM:620780 cutis laxa, autosomal recessive, type 1d semapv:ManualMappingCuration MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:exactMatch OMIM:620779 intellectual developmental disorder, autosomal recessive 82 semapv:ManualMappingCuration MONDO:0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder skos:exactMatch OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder semapv:ManualMappingCuration MONDO:0968946 developmental and epileptic encephalopathy 115 skos:exactMatch OMIM:620783 developmental and epileptic encephalopathy 115 semapv:ManualMappingCuration MONDO:0968947 neurodevelopmental disorder plus optic atrophy skos:exactMatch OMIM:620784 neurodevelopmental disorder plus optic atrophy semapv:ManualMappingCuration MONDO:0968976 neurodevelopmental disorder with progressive movement abnormalities skos:exactMatch OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities semapv:ManualMappingCuration MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive skos:exactMatch OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive semapv:ManualMappingCuration MONDO:0968978 aplasia cutis-enamel dysplasia syndrome skos:exactMatch OMIM:620789 aplasia cutis-enamel dysplasia syndrome semapv:ManualMappingCuration MONDO:0968979 neurodevelopmental disorder with hypotonia and seizures skos:exactMatch OMIM:620790 neurodevelopmental disorder with hypotonia and seizures semapv:ManualMappingCuration MONDO:0968980 otosclerosis 12 skos:exactMatch OMIM:620792 otosclerosis 12 semapv:ManualMappingCuration MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 skos:exactMatch OMIM:620794 deafness, autosomal recessive 124 semapv:ManualMappingCuration MONDO:0968982 autoinflammation with episodic fever and immune dysregulation skos:exactMatch OMIM:620795 autoinflammation with episodic fever and immune dysregulation semapv:ManualMappingCuration MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 skos:exactMatch OMIM:620796 proteasome-associated autoinflammatory syndrome 6 semapv:ManualMappingCuration MONDO:0970943 spermatogenic failure, X-linked, 8 skos:exactMatch OMIM:301119 spermatogenic failure, x-linked, 8 semapv:ManualMappingCuration MONDO:0970944 Leigh syndrome, mitochondrial skos:exactMatch OMIM:500017 leigh syndrome, mitochondrial semapv:ManualMappingCuration MONDO:0970945 developmental and epileptic encephalopathy 116 skos:exactMatch OMIM:620806 developmental and epileptic encephalopathy 116 semapv:ManualMappingCuration MONDO:0970950 Rothmund-Thomson syndrome, type 4 skos:exactMatch OMIM:620819 rothmund-thomson syndrome, type 4 semapv:ManualMappingCuration MONDO:0970951 El Hayek-Chahrour neurodevelopmental disorder skos:exactMatch OMIM:620820 el hayek-chahrour neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0970952 spermatogenic failure 91 skos:exactMatch OMIM:620838 spermatogenic failure 91 semapv:ManualMappingCuration MONDO:0970993 immunodeficiency 119 skos:exactMatch OMIM:620825 immunodeficiency 119 semapv:ManualMappingCuration MONDO:0970994 immunodeficiency 120 skos:exactMatch OMIM:620836 immunodeficiency 120 semapv:ManualMappingCuration MONDO:0970995 premature ovarian failure 24 skos:exactMatch OMIM:620840 premature ovarian failure 24 semapv:ManualMappingCuration MONDO:0970998 auroneurodental syndrome skos:exactMatch OMIM:620830 auroneurodental syndrome semapv:ManualMappingCuration MONDO:0970999 spermatogenic failure 92 skos:exactMatch OMIM:620848 spermatogenic failure 92 semapv:ManualMappingCuration MONDO:0971000 spermatogenic failure 93 skos:exactMatch OMIM:620849 spermatogenic failure 93 semapv:ManualMappingCuration MONDO:0971001 immunodeficiency 121 with autoinflammation skos:exactMatch OMIM:620807 immunodeficiency 121 with autoinflammation semapv:ManualMappingCuration MONDO:0971002 spermatogenic failure 94 skos:exactMatch OMIM:620850 spermatogenic failure 94 semapv:ManualMappingCuration MONDO:0971004 amyloidosis, hereditary systemic 1 skos:exactMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:ManualMappingCuration MONDO:0971005 MHC class II deficiency 1 skos:exactMatch OMIM:209920 mhc class 2 deficiency 1 semapv:ManualMappingCuration MONDO:0971006 MHC class I deficiency 1 skos:exactMatch OMIM:604571 mhc class 1 deficiency 1 semapv:ManualMappingCuration MONDO:0971007 neuroocular syndrome 1 skos:exactMatch OMIM:619539 neuroocular syndrome 1 semapv:ManualMappingCuration MONDO:0971008 amyloidosis, hereditary systemic 3 skos:exactMatch OMIM:620657 amyloidosis, hereditary systemic 3 semapv:ManualMappingCuration MONDO:0971009 amyloidosis, hereditary systemic 5 skos:exactMatch OMIM:620658 amyloidosis, hereditary systemic 5 semapv:ManualMappingCuration MONDO:0971010 amyloidosis, hereditary systemic 6 skos:exactMatch OMIM:620659 amyloidosis, hereditary systemic 6 semapv:ManualMappingCuration MONDO:0971011 MHC class I deficiency 2 skos:exactMatch OMIM:620813 mhc class 1 deficiency 2 semapv:ManualMappingCuration MONDO:0971012 MHC class I deficiency 3 skos:exactMatch OMIM:620814 mhc class 1 deficiency 3 semapv:ManualMappingCuration MONDO:0971013 MHC class II deficiency 2 skos:exactMatch OMIM:620815 mhc class 2 deficiency 2 semapv:ManualMappingCuration MONDO:0971014 MHC class II deficiency 3 skos:exactMatch OMIM:620816 mhc class 2 deficiency 3 semapv:ManualMappingCuration MONDO:0971015 MHC class II deficiency 4 skos:exactMatch OMIM:620817 mhc class 2 deficiency 4 semapv:ManualMappingCuration MONDO:0971016 MHC class II deficiency 5 skos:exactMatch OMIM:620818 mhc class 2 deficiency 5 semapv:ManualMappingCuration MONDO:0971043 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities skos:exactMatch OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities semapv:ManualMappingCuration MONDO:0971044 Ehlers-Danlos syndrome, classic-like, 3 skos:exactMatch OMIM:620865 ehlers-danlos syndrome, classic-like, 3 semapv:ManualMappingCuration MONDO:0971149 spastic paraplegia 30b, autosomal recessive skos:exactMatch OMIM:620607 spastic paraplegia 30b, autosomal recessive semapv:ManualMappingCuration MONDO:0971150 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity skos:exactMatch OMIM:620854 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity semapv:ManualMappingCuration MONDO:0971151 immunodeficiency 122 skos:exactMatch OMIM:620869 immunodeficiency 122 semapv:ManualMappingCuration MONDO:0971152 hearing loss, autosomal recessive 125 skos:exactMatch OMIM:620877 deafness, autosomal recessive 125 semapv:ManualMappingCuration MONDO:0971170 prostate cancer, hereditary, X-linked 3 skos:exactMatch OMIM:301120 prostate cancer, hereditary, X-linked 3 semapv:ManualMappingCuration MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 skos:exactMatch OMIM:620793 muscular dystrophy, limb-girdle, autosomal recessive 29 semapv:ManualMappingCuration MONDO:0971172 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language skos:exactMatch OMIM:620851 RENU syndrome semapv:ManualMappingCuration MONDO:0971173 autoinflammation with arthritis and vasculitis skos:exactMatch OMIM:620880 autoinflammation with arthritis and vasculitis semapv:ManualMappingCuration MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b skos:exactMatch OMIM:620887 multiple mitochondrial dysfunctions syndrome 9b semapv:ManualMappingCuration MONDO:0971175 cardiomyopathy, dilated, 2K skos:exactMatch OMIM:620894 cardiomyopathy, dilated, 2k semapv:ManualMappingCuration MONDO:0971176 ovarian dysgenesis 11 skos:exactMatch OMIM:620897 ovarian dysgenesis 11 semapv:ManualMappingCuration MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis skos:exactMatch OMIM:620901 immunodeficiency 123 with hpv-related verrucosis semapv:ManualMappingCuration MONDO:0971178 polycystic kidney disease 8 skos:exactMatch OMIM:620903 polycystic kidney disease 8 semapv:ManualMappingCuration MONDO:0971179 arterial tortuosity-bone fragility syndrome skos:exactMatch OMIM:620908 arterial tortuosity-bone fragility syndrome semapv:ManualMappingCuration MONDO:0975705 otofacial neurodevelopmental syndrome skos:exactMatch OMIM:620910 otofacial neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0975745 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 skos:exactMatch OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 semapv:ManualMappingCuration MONDO:0975746 spastic paraplegia 92, autosomal recessive skos:exactMatch OMIM:620911 spastic paraplegia 92, autosomal recessive semapv:ManualMappingCuration MONDO:0975747 spermatogenic failure 95 skos:exactMatch OMIM:620917 spermatogenic failure 95 semapv:ManualMappingCuration MONDO:0975748 Parkinson disease 26, autosomal dominant, susceptibility to skos:exactMatch OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to semapv:ManualMappingCuration MONDO:0975749 immunodeficiency 125 skos:exactMatch OMIM:620926 immunodeficiency 125 semapv:ManualMappingCuration MONDO:0975761 immunodeficiency 126, susceptibility to skos:exactMatch OMIM:620931 immunodeficiency 126, susceptibility to semapv:ManualMappingCuration MONDO:0975795 Kariminejad neurodevelopmental syndrome skos:exactMatch OMIM:620937 kariminejad neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0975796 spastic paraplegia 93, autosomal recessive skos:exactMatch OMIM:620938 spastic paraplegia 93, autosomal recessive semapv:ManualMappingCuration MONDO:0975797 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities skos:exactMatch OMIM:620939 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities semapv:ManualMappingCuration MONDO:0975798 methylmalonic aciduria and homocystinuria, cb1L type skos:exactMatch OMIM:620940 methylmalonic aciduria and homocystinuria, cbll type semapv:ManualMappingCuration MONDO:0975799 brain malformation renal syndrome skos:exactMatch OMIM:620943 brain malformation renal syndrome semapv:ManualMappingCuration MONDO:0975800 spinocerebellar ataxia 51 skos:exactMatch OMIM:620947 spinocerebellar ataxia 51 semapv:ManualMappingCuration MONDO:0975801 encephalopathy, acute transient skos:exactMatch OMIM:620950 encephalopathy, acute transient semapv:ManualMappingCuration MONDO:0975805 foveal hypoplasia 3 skos:exactMatch OMIM:620958 foveal hypoplasia 3 semapv:ManualMappingCuration MONDO:0975806 multiple mitochondrial dysfunctions syndrome 10 skos:exactMatch OMIM:620960 multiple mitochondrial dysfunctions syndrome 10 semapv:ManualMappingCuration MONDO:0975807 cholestasis, progressive familial intrahepatic, 13 skos:exactMatch OMIM:620962 cholestasis, progressive familial intrahepatic, 13 semapv:ManualMappingCuration MONDO:0975808 congenital myopathy 25 skos:exactMatch OMIM:620964 congenital myopathy 25 semapv:ManualMappingCuration MONDO:0975809 microphthalmia/coloboma 13 skos:exactMatch OMIM:620968 microphthalmia/coloboma 13 semapv:ManualMappingCuration MONDO:0975826 arthrogryposis multiplex congenita 7, X-linked skos:exactMatch OMIM:301127 arthrogryposis multiplex congenita 7, X-linked semapv:ManualMappingCuration MONDO:0975827 orofaciodigital syndrome 21 skos:exactMatch OMIM:301132 orofaciodigital syndrome 21 semapv:ManualMappingCuration MONDO:0975828 intellectual developmental disorder, X-linked 114 skos:exactMatch OMIM:301134 intellectual developmental disorder, X-linked 114 semapv:ManualMappingCuration MONDO:0975829 anemia, congenital dyserythropoietic, type IVb skos:exactMatch OMIM:620969 anemia, congenital dyserythropoietic, type ivb semapv:ManualMappingCuration MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 skos:exactMatch OMIM:620971 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 semapv:ManualMappingCuration MONDO:0975832 immunodeficiency 127 skos:exactMatch OMIM:620977 immunodeficiency 127 semapv:ManualMappingCuration MONDO:0975833 leukodystrophy, hypomyelinating, 28 skos:exactMatch OMIM:620978 leukodystrophy, hypomyelinating, 28 semapv:ManualMappingCuration MONDO:0975834 immunodeficiency 128 skos:exactMatch OMIM:620983 immunodeficiency 128 semapv:ManualMappingCuration MONDO:0975835 bronchiectasis and nasal polyposis skos:exactMatch OMIM:620984 bronchiectasis and nasal polyposis semapv:ManualMappingCuration MONDO:0975836 Karayol-Borroto-Haghshenas neurodevelopmental syndrome skos:exactMatch OMIM:620985 karayol-borroto-haghshenas neurodevelopmental syndrome semapv:ManualMappingCuration MONDO:0975837 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities skos:exactMatch OMIM:620987 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities semapv:ManualMappingCuration MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 skos:exactMatch OMIM:620988 intellectual developmental disorder, autosomal dominant 75 semapv:ManualMappingCuration MONDO:0975839 pancreatic agenesis 3 skos:exactMatch OMIM:620991 pancreatic agenesis 3 semapv:ManualMappingCuration MONDO:0975840 retinitis pigmentosa 98 skos:exactMatch OMIM:620996 retinitis pigmentosa 98 semapv:ManualMappingCuration MONDO:0975841 fibromatosis, gingival, 6 skos:exactMatch OMIM:620999 fibromatosis, gingival, 6 semapv:ManualMappingCuration MONDO:0975842 spermatogenic failure 96 skos:exactMatch OMIM:621001 spermatogenic failure 96 semapv:ManualMappingCuration MONDO:0975843 premature ovarian failure 25 skos:exactMatch OMIM:621002 premature ovarian failure 25 semapv:ManualMappingCuration MONDO:0975846 congenital disorder of glycosylation, type 1DD skos:exactMatch OMIM:301133 congenital disorder of glycosylation, type 1dd semapv:ManualMappingCuration MONDO:0975847 autoimmune disease with susceptibility to mycobacterium tuberculosis skos:exactMatch OMIM:621004 autoimmune disease with susceptibility to mycobacterium tuberculosis semapv:ManualMappingCuration MONDO:0975848 Morimoto-Ryu-Malicdan neuromuscular syndrome skos:exactMatch OMIM:621010 morimoto-ryu-malicdan neuromuscular syndrome semapv:ManualMappingCuration MONDO:0975874 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities skos:exactMatch OMIM:621012 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities semapv:ManualMappingCuration MONDO:0975875 basal ganglia calcification, idiopathic, 10, autosomal recessive skos:exactMatch OMIM:621018 basal ganglia calcification, idiopathic, 10, autosomal recessive semapv:ManualMappingCuration MONDO:0975877 neurodevelopmental disorder with variable familial hypercholanemia skos:exactMatch OMIM:621016 neurodevelopmental disorder with variable familial hypercholanemia semapv:ManualMappingCuration MONDO:0975951 spastic paraplegia, mitochondrial skos:exactMatch OMIM:500018 spastic paraplegia, mitochondrial semapv:ManualMappingCuration MONDO:0975952 cerebral cavernous malformations 5 skos:exactMatch OMIM:621032 cerebral cavernous malformations 5 semapv:ManualMappingCuration MONDO:0975953 Pan-Chung-Bellen syndrome skos:exactMatch OMIM:621049 pan-chung-bellen syndrome semapv:ManualMappingCuration MONDO:0975957 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature skos:exactMatch OMIM:621056 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature semapv:ManualMappingCuration MONDO:0975958 spermatogenic failure 97 skos:exactMatch OMIM:621057 spermatogenic failure 97 semapv:ManualMappingCuration MONDO:0976123 spermatogenic failure, X-linked, 9 skos:exactMatch OMIM:301137 spermatogenic failure, x-linked, 9 semapv:ManualMappingCuration MONDO:0976124 intellectual developmental disorder with polymicrogyria and seizures skos:exactMatch OMIM:621021 intellectual developmental disorder with polymicrogyria and seizures semapv:ManualMappingCuration MONDO:0976125 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination skos:exactMatch OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination semapv:ManualMappingCuration MONDO:0976126 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia skos:exactMatch OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia semapv:ManualMappingCuration MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch OMIM:621063 muggenthaler-chowdhury-chioza syndrome semapv:ManualMappingCuration MONDO:0976128 epilepsy, idiopathic generalized, susceptibility to, 19 skos:exactMatch OMIM:621064 epilepsy, idiopathic generalized, susceptibility to, 19 semapv:ManualMappingCuration MONDO:0976129 premature ovarian failure 26 skos:exactMatch OMIM:621065 premature ovarian failure 26 semapv:ManualMappingCuration MONDO:0976130 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies skos:exactMatch OMIM:621067 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies semapv:ManualMappingCuration MONDO:0976131 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia skos:exactMatch OMIM:621068 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia semapv:ManualMappingCuration MONDO:0976132 mitochondrial dna depletion syndrome 21 skos:exactMatch OMIM:621071 mitochondrial DNA depletion syndrome 21 semapv:ManualMappingCuration MONDO:0976133 myopathy, myofibrillar, 13, with rimmed vacuoles skos:exactMatch OMIM:621078 myopathy, myofibrillar, 13, with rimmed vacuoles semapv:ManualMappingCuration MONDO:0976134 heterotaxy, visceral, 13, autosomal skos:exactMatch OMIM:621079 heterotaxy, visceral, 13, autosomal semapv:ManualMappingCuration MONDO:0976135 heterotaxy, visceral, 14, autosomal skos:exactMatch OMIM:621080 heterotaxy, visceral, 14, autosomal semapv:ManualMappingCuration MONDO:0976136 ocular pterygium-digital keloid dysplasia syndrome skos:exactMatch OMIM:621091 ocular pterygium-digital keloid dysplasia syndrome semapv:ManualMappingCuration MONDO:0976137 oocyte/zygote/embryo maturation arrest 22 skos:exactMatch OMIM:621093 oocyte/zygote/embryo maturation arrest 22 semapv:ManualMappingCuration MONDO:0976226 neuronopathy, distal hereditary motor, autosomal dominant 15 skos:exactMatch OMIM:621094 neuronopathy, distal hereditary motor, autosomal dominant 15 semapv:ManualMappingCuration MONDO:0976227 Charcot-Marie-tooth disease, axonal, type 2JJ skos:exactMatch OMIM:621095 charcot-marie-tooth disease, axonal, type 2jj semapv:ManualMappingCuration MONDO:0976228 immunodeficiency 132b skos:exactMatch OMIM:621096 immunodeficiency 132b semapv:ManualMappingCuration MONDO:0976229 immunodeficiency 131 skos:exactMatch OMIM:621097 immunodeficiency 131 semapv:ManualMappingCuration MONDO:0976230 spondyloepimetaphyseal dysplasia, Li-Shao-Li type skos:exactMatch OMIM:621099 spondyloepimetaphyseal dysplasia, li-shao-li type semapv:ManualMappingCuration MONDO:0976231 intellectual developmental disorder, autosomal recessive 83 skos:exactMatch OMIM:621100 intellectual developmental disorder, autosomal recessive 83 semapv:ManualMappingCuration MONDO:0976232 Perrault syndrome 7 skos:exactMatch OMIM:621101 perrault syndrome 7 semapv:ManualMappingCuration MONDO:0976233 neurodevelopmental disorder with progressive spasticity and brain abnormalities skos:exactMatch OMIM:621102 neurodevelopmental disorder with progressive spasticity and brain abnormalities semapv:ManualMappingCuration MONDO:0976234 tubulointerstitial kidney disease, autosomal dominant 6 skos:exactMatch OMIM:621106 tubulointerstitial kidney disease, autosomal dominant 6 semapv:ManualMappingCuration MONDO:0976236 neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment skos:exactMatch OMIM:301142 neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment semapv:ManualMappingCuration MONDO:8000006 WHIM syndrome 1 skos:exactMatch OMIM:193670 whim syndrome 1 semapv:ManualMappingCuration MONDO:8000008 Martsolf syndrome 1 skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:ManualMappingCuration MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:ManualMappingCuration MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:exactMatch OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 semapv:ManualMappingCuration MONDO:8000013 portal hypertension, noncirrhotic, 1 skos:exactMatch OMIM:617068 portal hypertension, noncirrhotic, 1 semapv:ManualMappingCuration MONDO:8000014 familial antiphospholipid syndrome skos:exactMatch OMIM:107320 antiphospholipid syndrome, familial semapv:ManualMappingCuration MONDO:8000015 46,XY sex reversal 11 skos:exactMatch OMIM:273250 46,xy sex reversal 11 semapv:ManualMappingCuration MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch OMIM:193007 vertigo, benign recurrent semapv:ManualMappingCuration MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:exactMatch OMIM:615559 autoimmune lymphoproliferative syndrome, type 3 semapv:ManualMappingCuration