Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | . | | | 143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AASS CL E G H | 10157 | 17366 | OMIM:238700 | Hyperlysinemia, type I | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | . | | | 130 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | | | | 826 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:248200 | Stargardt disease 1 | . | | | 826 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCA5 CL E G H | 23461 | 35 | OMIM:135400 | Hypertrichosis terminalis, generalized, with or without gingival hyperplasia | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | . | | | 146 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | HP:0040283 - Occasional | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCC2 CL E G H | 1244 | 53 | OMIM:237500 | DUBIN-JOHNSON syndrome | . | | | 119 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:614473 | Arterial calcification, generalized, of infancy, 2 | . | | | 415 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCG5 CL E G H | 64240 | 13886 | OMIM:618666 | SITOSTEROLEMIA 2; STSL2 | | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACACA CL E G H | 31 | 84 | OMIM:613933 | Acetyl-CoA carboxylase deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACAD8 CL E G H | 27034 | 87 | OMIM:611283 | Isobutyryl-CoA dehydrogenase deficiency | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACAT1 CL E G H | 38 | 93 | OMIM:203750 | Alpha-Methylacetoacetic aciduria | . | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACE CL E G H | 1636 | 2707 | OMIM:267430 | Renal tubular dysgenesis | . | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACKR3 CL E G H | 57007 | 23692 | OMIM:619215 | OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACO2 CL E G H | 50 | 118 | OMIM:616289 | Optic atrophy 9 | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACOX2 CL E G H | 8309 | 120 | OMIM:617308 | Bile acid synthesis defect, congenital, 6 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACSF3 CL E G H | 197322 | 27288 | OMIM:614265 | Combined malonic and methylmalonic aciduria | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACTL9 CL E G H | 284382 | 28494 | OMIM:619258 | SPERMATOGENIC FAILURE 53; SPGF53 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAM9 CL E G H | 8754 | 216 | OMIM:612775 | Cone-Rod dystrophy 9 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | . | | | 214 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS18 CL E G H | 170692 | 17110 | OMIM:615458 | Microcornea, myopic chorioretinal atrophy, and telecanthus | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS19 CL E G H | 171019 | 17111 | OMIM:620067 | | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTS3 CL E G H | 9508 | 219 | OMIM:618154 | Hennekam lymphangiectasia-lymphedema syndrome 3 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225100 | Ectopia lentis | . | | | 84 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | . | | | 84 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | . | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADCY1 CL E G H | 107 | 232 | OMIM:610154 | Deafness, autosomal recessive 44 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619647 | DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:615752 | POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR | | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADGRV1 CL E G H | 84059 | 17416 | OMIM:605472 | Usher syndrome, type IIC | . | | | 530 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADRB2 CL E G H | 154 | 286 | OMIM:601665 | OBESITY | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADRB3 CL E G H | 155 | 288 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AFP CL E G H | 174 | 317 | OMIM:615969 | ALPHA-FETOPROTEIN DEFICIENCY; AFPD | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGK CL E G H | 55750 | 21869 | OMIM:614691 | Cataract, autosomal recessive congenital 5 | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGPS CL E G H | 8540 | 327 | OMIM:600121 | Rhizomelic chondrodysplasia punctata, type 3 | | | | 117 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGRP CL E G H | 181 | 330 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGT CL E G H | 183 | 333 | OMIM:267430 | Renal tubular dysgenesis | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGTR1 CL E G H | 185 | 336 | OMIM:267430 | Renal tubular dysgenesis | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AHCY CL E G H | 191 | 343 | OMIM:613752 | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AHR CL E G H | 196 | 348 | OMIM:618345 | RETINITIS PIGMENTOSA 85; RP85 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AHSG CL E G H | 197 | 349 | OMIM:203650 | Alopecia-Mental retardation syndrome 1 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AK1 CL E G H | 203 | 361 | OMIM:612631 | Adenylate kinase deficiency, hemolytic anemia due to | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AK7 CL E G H | 122481 | 20091 | OMIM:617965 | Spermatogenic failure 27 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AKR1C2 CL E G H | 1646 | 385 | OMIM:614279 | 46,xy sex reversal 8 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AKR1C4 CL E G H | 1109 | 387 | OMIM:614279 | 46,xy sex reversal 8 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH4A1 CL E G H | 8659 | 406 | OMIM:239510 | Hyperprolinemia, type II | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDH7A1 CL E G H | 501 | 877 | OMIM:266100 | Epilepsy, pyridoxine-dependent | . | | | 227 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG6 CL E G H | 29929 | 23157 | OMIM:603147 | Congenital disorder of glycosylation, type Ic | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMBN CL E G H | 258 | 452 | OMIM:616270 | AMELOGENESIS IMPERFECTA, TYPE IF; AI1F | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMH CL E G H | 268 | 464 | OMIM:261550 | Persistent mullerian duct syndrome, types I and II | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMHR2 CL E G H | 269 | 465 | OMIM:261550 | Persistent mullerian duct syndrome, types I and II | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMN CL E G H | 81693 | 14604 | OMIM:618882 | IMERSLUND-GRASBECK SYNDROME 2; IGS2 | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANAPC7 CL E G H | 51434 | 17380 | OMIM:619699 | FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANGPTL3 CL E G H | 27329 | 491 | OMIM:605019 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | . | | | 176 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANO1 CL E G H | 55107 | 21625 | OMIM:620045 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | . | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANO6 CL E G H | 196527 | 25240 | OMIM:262890 | Scott syndrome | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APOB CL E G H | 338 | 603 | OMIM:615558 | Hypobetalipoproteinemia, familial, 1 | . | | | 356 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | | | | 179 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARHGEF18 CL E G H | 23370 | 17090 | OMIM:617433 | Retinitis pigmentosa 78 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL2BP CL E G H | 23568 | 17146 | OMIM:615434 | Retinitis pigmentosa with or without situs inversus | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:613575 | RETINITIS PIGMENTOSA 55; RP55 | | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARMC2 CL E G H | 84071 | 23045 | OMIM:618433 | SPERMATOGENIC FAILURE 38; SPGF38 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | . | | | 253 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ARV1 CL E G H | 64801 | 29561 | OMIM:617020 | Epileptic encephalopathy, early infantile, 38 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASPM CL E G H | 259266 | 19048 | OMIM:608716 | Microcephaly 5, primary, autosomal recessive | . | | | 512 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ASTL CL E G H | 431705 | 31704 | OMIM:619643 | OOCYTE MATURATION DEFECT 11; OOMD11 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATCAY CL E G H | 85300 | 779 | OMIM:601238 | Cerebellar ataxia, Cayman type | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATF6 CL E G H | 22926 | 791 | OMIM:616517 | ACHROMATOPSIA 7; ACHM7 | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619602 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD | | | | 239 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP2B2 CL E G H | 491 | 815 | OMIM:601386 | Deafness, autosomal recessive 12 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:616045 | Combined oxidative phosphorylation deficiency 22 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:615228 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP5F1E CL E G H | 514 | 838 | OMIM:614053 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP5MK CL E G H | 84833 | 30889 | OMIM:618683 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V0A4 CL E G H | 50617 | 866 | OMIM:602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V1B1 CL E G H | 525 | 853 | OMIM:267300 | Renal tubular acidosis, distal, with progressive nerve deafness | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP8A2 CL E G H | 51761 | 13533 | OMIM:615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | . | | | 144 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AURKC CL E G H | 6795 | 11391 | OMIM:243060 | Male infertility with large-headed, multiflagellar, polyploid spermatozoa | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AVIL CL E G H | 10677 | 14188 | OMIM:618594 | NEPHROTIC SYNDROME, TYPE 21; NPHS21 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:617120 | Joubert syndrome 27 | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BAG5 CL E G H | 9529 | 941 | OMIM:619747 | CARDIOMYOPATHY, DILATED, 2F; CMD2F | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS10 CL E G H | 79738 | 26291 | OMIM:615987 | Bardet-Biedl syndrome 10 | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS12 CL E G H | 166379 | 26648 | OMIM:615989 | Bardet-Biedl syndrome 12 | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS2 CL E G H | 583 | 967 | OMIM:616562 | Retinitis pigmentosa 74 | . | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS4 CL E G H | 585 | 969 | OMIM:615982 | Bardet-Biedl syndrome 4 | | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCAT2 CL E G H | 587 | 977 | OMIM:618850 | HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCHE CL E G H | 590 | 983 | OMIM:617936 | BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED | | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCKDHA CL E G H | 593 | 986 | OMIM:248600 | Maple syrup urine disease | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCKDHB CL E G H | 594 | 987 | OMIM:248600 | Maple syrup urine disease | . | | | 162 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:262000 | Bjornstad syndrome | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BDP1 CL E G H | 55814 | 13652 | OMIM:618257 | Deafness, autosomal recessive 112 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB | | | | 182 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BFSP1 CL E G H | 631 | 1040 | OMIM:611391 | Cataract 33, multiple types | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:607539 | Camptosynpolydactyly, complex | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | . | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:605724 | Fanconi anemia, complementation group D1 | | | | 7642 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:613029 | Glioma susceptibility 3 | . | | | 7642 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 7642 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRDT CL E G H | 676 | 1105 | OMIM:617644 | Spermatogenic failure 21 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | | | | 1086 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BTG4 CL E G H | 54766 | 13862 | OMIM:619009 | OOCYTE MATURATION DEFECT 8; OOMD8 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C11ORF80 CL E G H | 79703 | 26197 | OMIM:618432 | HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C12ORF4 CL E G H | 57102 | 1184 | OMIM:618221 | Mental retardation, autosomal recessive 66 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619203 | PREMATURE OVARIAN FAILURE 18; POF18 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619202 | SPERMATOGENIC FAILURE 52; SPGF52 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:615043 | Spastic paraplegia 43, autosomal recessive | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C1QA CL E G H | 712 | 1241 | OMIM:613652 | C1q deficiency | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C1QB CL E G H | 713 | 1242 | OMIM:613652 | C1q deficiency | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C1QC CL E G H | 714 | 1245 | OMIM:613652 | C1q deficiency | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C2 CL E G H | 717 | 1248 | OMIM:217000 | Complement component 2 deficiency | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C4A CL E G H | 720 | 1323 | OMIM:614380 | Complement component 4A deficiency | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C6 CL E G H | 729 | 1339 | OMIM:612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C7 CL E G H | 730 | 1346 | OMIM:610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C8A CL E G H | 731 | 1352 | OMIM:613790 | Complement component 8 deficiency, type I | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | C8B CL E G H | 732 | 1353 | OMIM:613789 | Complement component 8 deficiency, type II | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CA8 CL E G H | 767 | 1382 | OMIM:613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CABP2 CL E G H | 51475 | 1385 | OMIM:614899 | Deafness, autosomal recessive 93 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CACNA1B CL E G H | 774 | 1389 | OMIM:618497 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:614896 | Sinoatrial node dysfunction and deafness | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CALCRL CL E G H | 10203 | 16709 | OMIM:618773 | LYMPHATIC MALFORMATION 8; LMPHM8 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:618095 | Mental retardation, autosomal recessive 63 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CARTPT CL E G H | 9607 | 24323 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CASP14 CL E G H | 23581 | 1502 | OMIM:617320 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CASQ2 CL E G H | 845 | 1513 | OMIM:611938 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | . | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAT CL E G H | 847 | 1516 | OMIM:614097 | Acatalasemia | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CATIP CL E G H | 375307 | 25062 | OMIM:619379 | SPERMATOGENIC FAILURE 54; SPGF54 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CATSPER1 CL E G H | 117144 | 17116 | OMIM:612997 | Spermatogenic failure 7 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CATSPER2 CL E G H | 117155 | 18810 | OMIM:611102 | Deafness, sensorineural, and male infertility | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CATSPER2 CL E G H | 117155 | 18810 | OMIM:612997 | Spermatogenic failure 7 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CBX2 CL E G H | 84733 | 1552 | OMIM:613080 | 46XY sex reversal 5 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CC2D1A CL E G H | 54862 | 30237 | OMIM:608443 | Mental retardation, autosomal recessive 3 | | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | . | | | 247 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619845 | RETINITIS PIGMENTOSA 93; RP93 | | | | 247 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC103 CL E G H | 388389 | 32700 | OMIM:614679 | Ciliary dyskinesia, primary, 17 | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC134 CL E G H | 79879 | 26185 | OMIM:619795 | OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC34 CL E G H | 91057 | 25079 | OMIM:620084 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC62 CL E G H | 84660 | 30723 | OMIM:619803 | SPERMATOGENIC FAILURE 67; SPGF67 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:236600 | Hydrocephalus, nonsyndromic, autosomal recessive 1 | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCNO CL E G H | 10309 | 18576 | OMIM:615872 | Ciliary dyskinesia, primary, 29 | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD151 CL E G H | 977 | 1630 | OMIM:609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD320 CL E G H | 51293 | 16692 | OMIM:613646 | METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD36 CL E G H | 948 | 1663 | OMIM:608404 | Platelet glycoprotein IV deficiency | | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD59 CL E G H | 966 | 1689 | OMIM:612300 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDC14A CL E G H | 8556 | 1718 | OMIM:608653 | Deafness, autosomal recessive 32, with or without immotile sperm | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:619957 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:601386 | Deafness, autosomal recessive 12 | . | | | 636 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:601067 | Usher syndrome, type ID | . | | | 636 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:601553 | Hypotrichosis, congenital, with juvenile macular dystrophy | . | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | . | | | 181 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDK6 CL E G H | 1021 | 1777 | OMIM:616080 | Microcephaly 12, primary, autosomal recessive | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEACAM16 CL E G H | 388551 | 31948 | OMIM:618410 | DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113 | | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:245480 | Specific granule deficiency | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:608393 | Microcephaly, primary autosomal recessive, 6 | . | | | 161 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:613676 | Seckel syndrome 4 | . | | | 161 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:616781 | Joubert syndrome 25 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP112 CL E G H | 201134 | 28514 | OMIM:619044 | SPERMATOGENIC FAILURE 44; SPGF44 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP135 CL E G H | 9662 | 29086 | OMIM:614673 | Microcephaly 8, primary, autosomal recessive | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | . | | | 146 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP250 CL E G H | 11190 | 1859 | OMIM:618358 | CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:615991 | Bardet-Biedl syndrome 14 | . | | | 342 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611755 | Leber congenital amaurosis 10 | | | | 342 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610189 | Senior-Loken syndrome 6 | . | | | 342 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP63 CL E G H | 80254 | 25815 | OMIM:614728 | Seckel syndrome 6 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP78 CL E G H | 84131 | 25740 | OMIM:617236 | CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CEP83 CL E G H | 51134 | 17966 | OMIM:615862 | Nephronophthisis 18 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CERKL CL E G H | 375298 | 21699 | OMIM:608380 | Retinitis pigmentosa 26 | | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP251 CL E G H | 144406 | 28506 | OMIM:618152 | Spermatogenic failure 33 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:617547 | Retinal dystrophy with or without macular staphyloma | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP43 CL E G H | 80217 | 26684 | OMIM:617592 | Spermatogenic failure 19 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP44 CL E G H | 55779 | 25631 | OMIM:617593 | Spermatogenic failure 20 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP58 CL E G H | 159686 | 26676 | OMIM:619144 | SPERMATOGENIC FAILURE 49; SPGF49 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP65 CL E G H | 255101 | 25325 | OMIM:618664 | SPERMATOGENIC FAILURE 40; SPGF40 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP69 CL E G H | 79846 | 26107 | OMIM:617959 | SPERMATOGENIC FAILURE 24; SPGF24 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP70 CL E G H | 118491 | 30726 | OMIM:618670 | SPERMATOGENIC FAILURE 41; SPGF41 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFAP91 CL E G H | 89876 | 24010 | OMIM:619177 | SPERMATOGENIC FAILURE 51; SPGF51 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFD CL E G H | 1675 | 2771 | OMIM:613912 | Complement factor D deficiency | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:609814 | Complement factor H deficiency | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | . | | | 1371 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:277180 | Vas deferens, congenital bilateral aplasia of | . | | | 1371 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616314 | Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616323 | Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:616324 | Myasthenic syndrome, congenital, 4B, fast-channel | . | | | 139 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHST11 CL E G H | 50515 | 17422 | OMIM:618167 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | . | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHST8 CL E G H | 64377 | 15993 | OMIM:616265 | Peeling skin syndrome 3 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIB1 CL E G H | 10519 | 16920 | OMIM:618267 | Epidermodysplasia verruciformis, susceptibility to, 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIB2 CL E G H | 10518 | 24579 | OMIM:609439 | Deafness, autosomal recessive 48 | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIB2 CL E G H | 10518 | 24579 | OMIM:614869 | Usher syndrome, type IJ | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CISD2 CL E G H | 493856 | 24212 | OMIM:604928 | Wolfram syndrome 2 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCF1 CL E G H | 23529 | 17412 | OMIM:610313 | Cold-Induced sweating syndrome 2 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:255700 | Myotonia congenita, autosomal recessive | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLDN14 CL E G H | 23562 | 2035 | OMIM:614035 | Deafness, autosomal recessive 29 | | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLDN9 CL E G H | 9080 | 2051 | OMIM:619093 | DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLIC5 CL E G H | 53405 | 13517 | OMIM:616042 | Deafness, autosomal recessive 103 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | . | | | 143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLPP CL E G H | 8192 | 2084 | OMIM:614129 | Perrault syndrome 3 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:276902 | Usher syndrome, type IIIA | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CLRN2 CL E G H | 645104 | 33939 | OMIM:619174 | DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | . | | | 164 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:616418 | Hypomagnesemia, seizures, and mental retardation | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNPY3 CL E G H | 10695 | 11968 | OMIM:617929 | Epileptic encephalopathy, early infantile, 60 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNTN2 CL E G H | 6900 | 2172 | OMIM:615400 | Epilepsy, familial adult myoclonic, 5 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CNTNAP2 CL E G H | 26047 | 13830 | OMIM:610042 | Pitt-Hopkins-Like syndrome 1 | . | | | 518 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COA3 CL E G H | 28958 | 24990 | OMIM:619058 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COA5 CL E G H | 493753 | 33848 | OMIM:616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COASY CL E G H | 80347 | 29932 | OMIM:618266 | Pontocerebellar hypoplasia, type 12 | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COCH CL E G H | 1690 | 2180 | OMIM:618094 | Deafness, autosomal recessive 110 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG5 CL E G H | 10466 | 14857 | OMIM:613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I | | | | 79 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:609706 | Deafness, autosomal recessive 53 | . | | | 222 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | . | | | 222 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | . | | | 243 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL25A1 CL E G H | 84570 | 18603 | OMIM:616219 | Fibrosis of extraocular muscles, congenital, 5 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL27A1 CL E G H | 85301 | 22986 | OMIM:615155 | Steel syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | . | | | 702 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131850 | Epidermolysis bullosa dystrophica, pretibial | . | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:604129 | Epidermolysis bullosa pruriginosa | . | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131705 | Transient bullous dermolysis of the newborn | . | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:614284 | Stickler syndrome, type V | . | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ4 CL E G H | 51117 | 19693 | OMIM:616276 | Coenzyme Q10 deficiency, primary, 7 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | . | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX15 CL E G H | 1355 | 2263 | OMIM:615119 | Mitochondrial complex IV deficiency, nuclear type 6 | . | | | 104 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614417 | Epilepsy, familial temporal lobe, 5 | | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:614615 | Joubert syndrome 17 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPN1 CL E G H | 1369 | 2312 | OMIM:212070 | Carboxypeptidase N deficiency | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:614212 | Encephalopathy, acute, infection-induced, susceptibility to, 4 | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRADD CL E G H | 8738 | 2340 | OMIM:614499 | Mental retardation, autosomal recessive 34, with variant lissencephaly | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | . | | | 156 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRB2 CL E G H | 286204 | 18688 | OMIM:616220 | Focal segmental glomerulosclerosis 9 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRB2 CL E G H | 286204 | 18688 | OMIM:219730 | Ventriculomegaly with cystic kidney disease | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRBN CL E G H | 51185 | 30185 | OMIM:607417 | Mental retardation, autosomal recessive 2 | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRTAP CL E G H | 10491 | 2379 | OMIM:610682 | Osteogenesis imperfecta, type VII | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRX CL E G H | 1406 | 2383 | OMIM:613829 | Leber congenital amaurosis 7 | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613763 | Cataract, posterior polar, 2 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CRYBB3 CL E G H | 1417 | 2400 | OMIM:609741 | Cataract 22, multiple types | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | . | | | 149 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSF2RB CL E G H | 1439 | 2436 | OMIM:614370 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 | | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:617014 | Neutropenia, severe congenital, 7, autosomal recessive | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CSTB CL E G H | 1476 | 2482 | OMIM:254800 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTH CL E G H | 1491 | 2501 | OMIM:219500 | CYSTATHIONINURIA | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219750 | Cystinosis, adult nonnephropathic | . | | | 178 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:170650 | Periodontitis, aggressive, 1 | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CUBN CL E G H | 8029 | 2548 | OMIM:261100 | Megaloblastic anemia 1 | . | | | 273 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYB561 CL E G H | 1534 | 2571 | OMIM:618182 | Orthostatic hypotension 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYB5A CL E G H | 1528 | 2570 | OMIM:250790 | Methemoglobinemia and ambiguous genitalia | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP17A1 CL E G H | 1586 | 2593 | OMIM:202110 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:613546 | Aromatase deficiency | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP26B1 CL E G H | 56603 | 20581 | OMIM:614416 | RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP26C1 CL E G H | 340665 | 20577 | OMIM:614974 | FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP2D6 CL E G H | 1565 | 2625 | OMIM:608902 | Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | . | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DAAM2 CL E G H | 23500 | 18143 | OMIM:619263 | NEPHROTIC SYNDROME, TYPE 24; NPHS24 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DBR1 CL E G H | 51163 | 15594 | OMIM:619441 | ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DBT CL E G H | 1629 | 2698 | OMIM:248600 | Maple syrup urine disease | . | | | 156 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:610212 | Deafness, autosomal recessive 66 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | . | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DGAT1 CL E G H | 8694 | 2843 | OMIM:615863 | Diarrhea 7, protein-losing Enteropathy type | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617068 | Portal hypertension, noncirrhotic | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHH CL E G H | 50846 | 2865 | OMIM:233420 | 46,xy sex reversal 7 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:204750 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:616632 | Seizures, cortical blindness, and microcephaly syndrome | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:220600 | Split-Hand/foot malformation 1 with sensorineural hearing loss | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DMGDH CL E G H | 29958 | 24475 | OMIM:605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DMP1 CL E G H | 1758 | 2932 | OMIM:241520 | Hypophosphatemic rickets, autosomal recessive | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:616113 | Polyendocrine-Polyneuropathy syndrome | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615807 | Seckel syndrome 8 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | . | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:615482 | Ciliary dyskinesia, primary, 25 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH1 CL E G H | 25981 | 2940 | OMIM:617577 | Ciliary dyskinesia, primary, 37 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH1 CL E G H | 25981 | 2940 | OMIM:617576 | Spermatogenic failure 18 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH10 CL E G H | 196385 | 2941 | OMIM:619515 | SPERMATOGENIC FAILURE 56; SPGF56 | | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH17 CL E G H | 8632 | 2946 | OMIM:618643 | SPERMATOGENIC FAILURE 39; SPGF39 | | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH2 CL E G H | 146754 | 2948 | OMIM:619094 | SPERMATOGENIC FAILURE 45; SPGF45 | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH5 CL E G H | 1767 | 2950 | OMIM:608644 | CILIARY DYSKINESIA, PRIMARY, 3; CILD3 | | | | 527 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH8 CL E G H | 1769 | 2952 | OMIM:619095 | SPERMATOGENIC FAILURE 46; SPGF46 | | | | 153 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJB13 CL E G H | 374407 | 30718 | OMIM:617091 | CILIARY DYSKINESIA, PRIMARY, 34; CILD34 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | . | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNAL4 CL E G H | 10126 | 2955 | OMIM:616059 | Mirror movements 3 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNASE1L3 CL E G H | 1776 | 2959 | OMIM:614420 | Systemic lupus erythematosus 16 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNHD1 CL E G H | 144132 | 26532 | OMIM:619712 | SPERMATOGENIC FAILURE 65; SPGF65 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNMBP CL E G H | 23268 | 30373 | OMIM:618415 | Cataract 48 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPY19L2 CL E G H | 283417 | 19414 | OMIM:613958 | Spermatogenic failure 9 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | . | | | 144 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DRAM2 CL E G H | 128338 | 28769 | OMIM:616502 | Cone-Rod dystrophy 21 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | . | | | 268 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:612877 | CARDIOMYOPATHY, DILATED, 1BB; CMD1BB | | | | 358 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSG3 CL E G H | 1830 | 3050 | OMIM:619226 | BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA; ABOLM | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DST CL E G H | 667 | 1090 | OMIM:615425 | Epidermolysis bullosa simplex, autosomal recessive 2 | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DUOX2 CL E G H | 50506 | 13273 | OMIM:607200 | Thyroid dyshormonogenesis 6 | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DUOXA2 CL E G H | 405753 | 32698 | OMIM:274900 | Thyroid hormonogenesis, genetic defect in, 5 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DUT CL E G H | 1854 | 3078 | OMIM:620044 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYNC2I2 CL E G H | 89891 | 28296 | OMIM:615633 | Short-Rib thoracic dysplasia 11 with or without polydactyly | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | . | | | 600 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DZIP1 CL E G H | 22873 | 20908 | OMIM:619102 | SPERMATOGENIC FAILURE 47; SPGF47 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDC3 CL E G H | 80153 | 26114 | OMIM:616460 | Mental retardation, autosomal recessive 50 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDN1 CL E G H | 1906 | 3176 | OMIM:615706 | Auriculocondylar syndrome 3 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EGF CL E G H | 1950 | 3229 | OMIM:611718 | HYPOMAGNESEMIA 4, RENAL; HOMG4 | | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:616069 | Inflammatory skin and bowel disease, neonatal, 2 | . | | | 257 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF3F CL E G H | 8665 | 3275 | OMIM:618295 | Intellectual developmental disorder, autosomal recessive 67 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELAC2 CL E G H | 60528 | 14198 | OMIM:615440 | Combined oxidative phosphorylation deficiency 17 | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELMOD3 CL E G H | 84173 | 26158 | OMIM:615429 | DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EMG1 CL E G H | 10436 | 16912 | OMIM:211180 | Bowen-Conradi syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EMP2 CL E G H | 2013 | 3334 | OMIM:615861 | NEPHROTIC SYNDROME, TYPE 10; NPHS10 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:208000 | Arterial calcification, generalized, of infancy, 1 | . | | | 151 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | . | | | 151 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:601665 | OBESITY | . | | | 151 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613217 | Diarrhea 5, with tufting enteropathy, congenital | . | | | 170 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPHB2 CL E G H | 2048 | 3393 | OMIM:618462 | Bleeding disorder, platelet-type, 22 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617911 | DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPS8 CL E G H | 2059 | 3420 | OMIM:615974 | Deafness, autosomal recessive 102 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EPS8L2 CL E G H | 64787 | 21296 | OMIM:617637 | DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERAL1 CL E G H | 26284 | 3424 | OMIM:617565 | PERRAULT SYNDROME 6; PRLTS6 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:615272 | Fanconi anemia, complementation group Q | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:600630 | Uv-Sensitive syndrome 1 | . | | | 199 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC6L2 CL E G H | 375748 | 26922 | OMIM:615715 | Bone marrow failure syndrome 2 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:614621 | UV-sensitive syndrome 2 | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:609006 | Deafness, autosomal recessive 36, with or without vestibular involvement | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:615363 | Estrogen resistance | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESRP1 CL E G H | 54845 | 25966 | OMIM:618013 | DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ESRRB CL E G H | 2103 | 3473 | OMIM:608565 | DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35 | | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXPH5 CL E G H | 23086 | 30578 | OMIM:615028 | Epidermolysis bullosa, nonspecific, autosomal recessive | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | . | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F11 CL E G H | 2160 | 3529 | OMIM:612416 | Factor XI deficiency | . | | | 132 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F12 CL E G H | 2161 | 3530 | OMIM:234000 | Factor XII deficiency | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F5 CL E G H | 2153 | 3542 | OMIM:600880 | Budd-Chiari syndrome | . | | | 159 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F5 CL E G H | 2153 | 3542 | OMIM:227400 | Factor V deficiency | . | | | 159 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | F7 CL E G H | 2155 | 3544 | OMIM:227500 | Factor VII deficiency | . | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FADD CL E G H | 8772 | 3573 | OMIM:613759 | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCM CL E G H | 57697 | 23168 | OMIM:618096 | Premature ovarian failure 15 | . | | | 107 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FANCM CL E G H | 57697 | 23168 | OMIM:618086 | Spermatogenic failure 28 | . | | | 107 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:617046 | Spastic paraplegia 77, autosomal recessive | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | . | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619697 | OOCYTE MATURATION DEFECT 12; OOMD12 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619696 | SPERMATOGENIC FAILURE 64; SPGF64 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FDXR CL E G H | 2232 | 3642 | OMIM:617717 | Auditory neuropathy and optic atrophy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | . | | | 145 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGF20 CL E G H | 26281 | 3677 | OMIM:615721 | Renal hypodysplasia/aplasia 2 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGF23 CL E G H | 8074 | 3680 | OMIM:617993 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2 | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGF3 CL E G H | 2248 | 3681 | OMIM:610706 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGF5 CL E G H | 2250 | 3683 | OMIM:190330 | Trichomegaly | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | . | | | 145 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:612691 | Polymicrogyria, bilateral temporooccipital | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:259450 | Bruck syndrome 1 | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:610968 | Osteogenesis imperfecta, type XI | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKBP6 CL E G H | 8468 | 3722 | OMIM:620103 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | . | | | 184 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | . | | | 184 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLG CL E G H | 2312 | 3748 | OMIM:146700 | ICHTHYOSIS VULGARIS | | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLG2 CL E G H | 388698 | 33276 | OMIM:618084 | Peeling skin syndrome 6 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FMN2 CL E G H | 56776 | 14074 | OMIM:616193 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 | | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOLR1 CL E G H | 2348 | 3791 | OMIM:613068 | Neurodegeneration due to cerebral folate transport deficiency | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOXE1 CL E G H | 2304 | 3806 | OMIM:241850 | Hypothyroidism, athyroidal, with spiky hair and cleft palate | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:600791 | Enlarged vestibular aqueduct | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:608980 | Bifid nose with or without anorectal and renal anomalies | | | | 198 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:248450 | Manitoba oculotrichoanal syndrome | . | | | 198 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:123570 | Cryptophthalmos, unilateral or bilateral, isolated | | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:617666 | Fraser syndrome 2 | . | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FSHR CL E G H | 2492 | 3969 | OMIM:233300 | Ovarian dysgenesis 1 | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FSIP2 CL E G H | 401024 | 21675 | OMIM:618153 | Spermatogenic failure 34 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FTCD CL E G H | 10841 | 3974 | OMIM:229100 | Formiminotransferase deficiency | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FTL CL E G H | 2512 | 3999 | OMIM:615604 | L-ferritin deficiency, dominant and recessive | | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612460 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14 | | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FYB1 CL E G H | 2533 | 4036 | OMIM:273900 | THROMBOCYTOPENIA 3; THC3 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FYCO1 CL E G H | 79443 | 14673 | OMIM:610019 | Cataract, autosomal recessive congenital 2 | . | | | 140 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | FZD6 CL E G H | 8323 | 4044 | OMIM:161050 | Nail disorder, nonsyndromic congenital, 1 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAB1 CL E G H | 2549 | 4066 | OMIM:605428 | Deafness, autosomal recessive 26 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALK1 CL E G H | 2584 | 4118 | OMIM:230200 | Galactokinase deficiency | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALM CL E G H | 130589 | 24063 | OMIM:618881 | GALACTOSEMIA IV; GALAC4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | . | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAS2L2 CL E G H | 246176 | 24846 | OMIM:618449 | Ciliary dyskinesia, primary, 41 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GATAD1 CL E G H | 57798 | 29941 | OMIM:614672 | Cardiomyopathy, dilated, 2B | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GATM CL E G H | 2628 | 4175 | OMIM:612718 | Cerebral creatine deficiency syndrome 3 | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | HP:0040283 - Occasional | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCK CL E G H | 2645 | 4195 | OMIM:606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | | | | 237 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCLC CL E G H | 2729 | 4311 | OMIM:230450 | Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:618883 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2 | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCNT2 CL E G H | 2651 | 4204 | OMIM:116700 | Cataract 13 with adult i phenotype | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:615360 | LEBER CONGENITAL AMAUROSIS 17; LCA17 | | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GDF9 CL E G H | 2661 | 4224 | OMIM:618014 | Premature ovarian failure 14 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GFRA1 CL E G H | 2674 | 4243 | OMIM:619887 | | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | . | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GGN CL E G H | 199720 | 18869 | OMIM:619826 | SPERMATOGENIC FAILURE 69; SPGF69 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GGT1 CL E G H | 2678 | 4250 | OMIM:231950 | GLUTATHIONURIA | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:612781 | Growth hormone deficiency, isolated, type IB | | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262650 | Pituitary dwarfism IV | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GHRL CL E G H | 51738 | 18129 | OMIM:601665 | OBESITY | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GIPC3 CL E G H | 126326 | 18183 | OMIM:601869 | DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 | | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:220290 | Deafness, autosomal recessive 1A | . | | | 199 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:220290 | Deafness, autosomal recessive 1A | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:220290 | Deafness, autosomal recessive 1A | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:612645 | Deafness, autosomal recessive 1B | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLDN CL E G H | 342035 | 29514 | OMIM:617194 | Lethal congenital contracture syndrome 11 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLI1 CL E G H | 2735 | 4317 | OMIM:618123 | POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLIS2 CL E G H | 84662 | 29450 | OMIM:611498 | NEPHRONOPHTHISIS 7; NPHP7 | | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618328 | Epileptic encephalopathy, early infantile, 71 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618412 | Global developmental delay, progressive ataxia, and elevated glutamine | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:616389 | Night blindness, congenital stationary, type 1G | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNAT2 CL E G H | 2780 | 4394 | OMIM:613856 | ACHROMATOPSIA 4; ACHM4 | | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNB3 CL E G H | 2784 | 4400 | OMIM:617024 | Night blindness, congenital stationary, type 1H | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNB5 CL E G H | 10681 | 4401 | OMIM:617173 | Intellectual developmental disorder with cardiac arrhythmia | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNB5 CL E G H | 10681 | 4401 | OMIM:617182 | Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNMT CL E G H | 27232 | 4415 | OMIM:606664 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:258660 | Nonarteritic anterior ischemic optic neuropathy, susceptibility to | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPNMB CL E G H | 10457 | 4462 | OMIM:617920 | Amyloidosis, primary localized cutaneous, 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPR161 CL E G H | 23432 | 23694 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPR179 CL E G H | 440435 | 31371 | OMIM:614565 | Night blindness, congenital stationary, type 1E | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPR88 CL E G H | 54112 | 4539 | OMIM:616939 | Chorea, childhood-onset, with psychomotor retardation | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPX1 CL E G H | 2876 | 4553 | OMIM:614164 | Glutathione peroxidase deficiency | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRAP CL E G H | 10750 | 4562 | OMIM:618456 | Deafness, autosomal recessive 114 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRHPR CL E G H | 9380 | 4570 | OMIM:260000 | Hyperoxaluria, primary, type II | . | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:611092 | Mental retardation, autosomal recessive 6 | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRIP1 CL E G H | 23426 | 18708 | OMIM:617667 | Fraser syndrome 3 | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRK1 CL E G H | 6011 | 10013 | OMIM:613411 | OGUCHI DISEASE 2 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRM6 CL E G H | 2916 | 4598 | OMIM:257270 | Night blindness, congenital stationary, type 1B | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRN CL E G H | 2896 | 4601 | OMIM:614706 | Ceroid lipofuscinosis, neuronal, 11 | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRXCR1 CL E G H | 389207 | 31673 | OMIM:613285 | Deafness, autosomal recessive 25 | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GRXCR2 CL E G H | 643226 | 33862 | OMIM:615837 | Deafness, autosomal recessive 101 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GSR CL E G H | 2936 | 4623 | OMIM:618660 | HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GSS CL E G H | 2937 | 4624 | OMIM:231900 | Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GSX2 CL E G H | 170825 | 24959 | OMIM:618646 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GTPBP3 CL E G H | 84705 | 14880 | OMIM:616198 | Combined oxidative phosphorylation deficiency 23 | . | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614665 | Meconium ileus | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:618555 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I | | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:613507 | Glycogen storage disease XV | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GYS2 CL E G H | 2998 | 4707 | OMIM:240600 | Glycogen storage disease 0, liver | . | | | 100 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | H6PD CL E G H | 9563 | 4795 | OMIM:604931 | Cortisone reductase deficiency 1 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HACD1 CL E G H | 9200 | 9639 | OMIM:619967 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:614504 | Usher syndrome, type IIIB | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HARS2 CL E G H | 23438 | 4817 | OMIM:614926 | PERRAULT SYNDROME 2; PRLTS2 | | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HES7 CL E G H | 84667 | 15977 | OMIM:613686 | Spondylocostal dysostosis 4, autosomal recessive | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HFM1 CL E G H | 164045 | 20193 | OMIM:615724 | Premature ovarian failure 9 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HGF CL E G H | 3082 | 4893 | OMIM:608265 | Deafness, congenital neurosensory, autosomal recessive 39 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:616544 | Retinitis pigmentosa 73 | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HMGCS2 CL E G H | 3158 | 5008 | OMIM:605911 | 3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HNMT CL E G H | 3176 | 5028 | OMIM:616739 | Mental retardation, autosomal recessive 51 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HOGA1 CL E G H | 112817 | 25155 | OMIM:613616 | HYPEROXALURIA, PRIMARY, TYPE III; HP3 | | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HOXC13 CL E G H | 3229 | 5125 | OMIM:614931 | Ectodermal dysplasia 9, Hair/nail type | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPD CL E G H | 3242 | 5147 | OMIM:276710 | Tyrosinemia, type III | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPGD CL E G H | 3248 | 5154 | OMIM:119900 | DIGITAL CLUBBING, ISOLATED CONGENITAL | | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HPSE2 CL E G H | 60495 | 18374 | OMIM:236730 | Urofacial syndrome | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HR CL E G H | 55806 | 5172 | OMIM:209500 | Atrichia with papular lesions | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSD17B3 CL E G H | 3293 | 5212 | OMIM:264300 | Pseudohermaphroditism, male, with gynecomastia | | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSD3B2 CL E G H | 3284 | 5218 | OMIM:201810 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSF2BP CL E G H | 11077 | 5226 | OMIM:619245 | PREMATURE OVARIAN FAILURE 19; POF19 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | . | | | 345 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFNAR1 CL E G H | 3454 | 5432 | OMIM:619935 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFNAR2 CL E G H | 3455 | 5433 | OMIM:616669 | Immunodeficiency 45 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFNGR2 CL E G H | 3460 | 5440 | OMIM:614889 | Immunodeficiency 28 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | . | | | 148 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT27 CL E G H | 11020 | 18626 | OMIM:615996 | Bardet-Biedl syndrome 19 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617871 | Retinitis pigmentosa 81 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619585 | SPERMATOGENIC FAILURE 58; SPGF58 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | . | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGFBP7 CL E G H | 3490 | 5476 | OMIM:614224 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | . | | | 209 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGKC CL E G H | 3514 | 5716 | OMIM:614102 | Immunoglobulin kappa light chain deficiency | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:615592 | Immunodeficiency 15 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL12B CL E G H | 3593 | 5970 | OMIM:614890 | Immunodeficiency 29 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL12RB1 CL E G H | 3594 | 5971 | OMIM:614891 | Immunodeficiency 30 | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619751 | STUVE-WIEDEMANN SYNDROME 2; STWS2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ILDR1 CL E G H | 286676 | 28741 | OMIM:609646 | Deafness, neurosensory, autosomal recessive 42 | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IMPA1 CL E G H | 3612 | 6050 | OMIM:617323 | Mental retardation, autosomal recessive 59 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ING1 CL E G H | 3621 | 6062 | OMIM:275355 | Squamous cell carcinoma, head and neck | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:610156 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome | | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INTS8 CL E G H | 55656 | 26048 | OMIM:618572 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IQCB1 CL E G H | 9657 | 28949 | OMIM:609254 | Senior-Loken syndrome 5 | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IQCE CL E G H | 23288 | 29171 | OMIM:617642 | Polydactyly, postaxial, type A7 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IQSEC1 CL E G H | 9922 | 29112 | OMIM:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IRF7 CL E G H | 3665 | 6122 | OMIM:616345 | Immunodeficiency 39 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IRF9 CL E G H | 10379 | 6131 | OMIM:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ISG15 CL E G H | 9636 | 4053 | OMIM:616126 | Immunodeficiency 38 with basal ganglia calcification | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGA6 CL E G H | 3655 | 6142 | OMIM:619817 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6 | | | | 79 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619267 | GLANZMANN THROMBASTHENIA 2; GT2 | | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITPA CL E G H | 3704 | 6176 | OMIM:616647 | Epileptic encephalopathy, early infantile, 35 | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | . | | | 177 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ITPR2 CL E G H | 3709 | 6181 | OMIM:106190 | Anhidrosis, isolated, with normal sweat glands | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | IYD CL E G H | 389434 | 21071 | OMIM:274800 | Thyroid hormonogenesis, genetic defect in, 4 | . | | | 130 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:600880 | Budd-Chiari syndrome | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JPH2 CL E G H | 57158 | 14202 | OMIM:619492 | CARDIOMYOPATHY, DILATED, 2E; CMD2E | | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:617783 | Nephrotic syndrome, type 16 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613916 | Deafness, autosomal recessive 89 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619196 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNA4 CL E G H | 3739 | 6222 | OMIM:618284 | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNE1 CL E G H | 3753 | 6240 | OMIM:612347 | Jervell and lange-nielsen syndrome 2 | . | | | 148 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:600791 | Enlarged vestibular aqueduct | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:614186 | Leber congenital amaurosis 16 | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:617643 | Cerebellar atrophy, developmental delay, and seizures | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:220400 | Jervell and lange-nielsen syndrome 1 | . | | | 730 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KDELR2 CL E G H | 11014 | 6305 | OMIM:619131 | OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KHDC3L CL E G H | 154288 | 33699 | OMIM:614293 | HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616490 | Joubert syndrome 23 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:617127 | Orofaciodigital syndrome XV | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF15 CL E G H | 56992 | 17273 | OMIM:619981 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | . | | | 276 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | . | | | 276 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF20A CL E G H | 10112 | 9787 | OMIM:619433 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIRREL1 CL E G H | 55243 | 15734 | OMIM:619201 | NEPHROTIC SYNDROME, TYPE 23; NPHS23 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KIZ CL E G H | 55857 | 15865 | OMIM:615780 | Retinitis pigmentosa 69 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLHDC8B CL E G H | 200942 | 28557 | OMIM:236000 | Lymphoma, hodgkin | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KLKB1 CL E G H | 3818 | 6371 | OMIM:612423 | PREKALLIKREIN DEFICIENCY | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | . | | | 112 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:601001 | Epidermolysis bullosa simplex, autosomal recessive 1 | . | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619599 | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D | | | | 173 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:617756 | Erythrokeratodermia variabilis et progressiva 5 | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:236800 | HYDROXYKYNURENINURIA | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:619783 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A | | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:619784 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B | | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | . | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620049 | | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:619785 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A | | | | 135 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:619786 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B | | | | 135 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMC3 CL E G H | 10319 | 6494 | OMIM:614115 | Cortical malformations, occipital | . | | | 114 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAMTOR2 CL E G H | 28956 | 29796 | OMIM:610798 | Immunodeficiency due to defect in mapbp-interacting protein | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | . | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:617021 | Hydrops, lactic acidosis, and sideroblastic anemia | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LCA5 CL E G H | 167691 | 31923 | OMIM:604537 | Leber congenital amaurosis 5 | | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:136120 | Fish-Eye disease | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:245900 | Lecithin:cholesterol acyltransferase deficiency | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LCT CL E G H | 3938 | 6530 | OMIM:223000 | Lactase deficiency, congenital | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LDHD CL E G H | 197257 | 19708 | OMIM:245450 | LACTIC ACIDURIA DUE TO D-LACTIC ACID | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LDLRAP1 CL E G H | 26119 | 18640 | OMIM:603813 | Hypercholesterolemia, autosomal recessive | HP:0040280 - Obligate | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:212500 | CATARACT 46, JUVENILE-ONSET; CTRCT46 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LFNG CL E G H | 3955 | 6560 | OMIM:609813 | Spondylocostal dysostosis 3, autosomal recessive | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LHCGR CL E G H | 3973 | 6585 | OMIM:238320 | Hypergonadotropic hypogonadism | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LHFPL5 CL E G H | 222662 | 21253 | OMIM:610265 | DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 | | | | 93 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIM2 CL E G H | 3982 | 6610 | OMIM:615277 | Cataract 19, multiple types | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LINGO1 CL E G H | 84894 | 21205 | OMIM:618103 | Mental retardation, autosomal recessive 64 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPN CL E G H | 643418 | 23452 | OMIM:613943 | Ichthyosis, congenital, autosomal recessive 8 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMAN1 CL E G H | 3998 | 6631 | OMIM:227300 | Factor V and factor VIII, combined deficiency of | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:616887 | Mental retardation, autosomal recessive 52 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:200500 | ACHEIROPODY; ACHP | | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | . | | | 645 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:176670 | Hutchinson-Gilford progeria syndrome | . | | | 645 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMOD1 CL E G H | 25802 | 6647 | OMIM:619362 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LOXHD1 CL E G H | 125336 | 26521 | OMIM:613079 | DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77 | | | | 278 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LOXL3 CL E G H | 84695 | 13869 | OMIM:619781 | MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRIG2 CL E G H | 9860 | 20889 | OMIM:615112 | Urofacial syndrome 2 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRIT3 CL E G H | 345193 | 24783 | OMIM:615058 | Night blindness, congenital stationary, type 1F | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRMDA CL E G H | 83938 | 23405 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP1 CL E G H | 4035 | 6692 | OMIM:604093 | Keratosis pilaris atrophicans | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:616304 | Myasthenic syndrome, congenital, 17 | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRPAP1 CL E G H | 4043 | 6701 | OMIM:615431 | Myopia 23, autosomal recessive | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRRK1 CL E G H | 79705 | 18608 | OMIM:615198 | Osteosclerotic metaphyseal dysplasia | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LRTOMT CL E G H | 220074 | 25033 | OMIM:611451 | Deafness, autosomal recessive 63 | | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LSS CL E G H | 4047 | 6708 | OMIM:616509 | Cataract 44 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LTC4S CL E G H | 4056 | 6719 | OMIM:614037 | LEUKOTRIENE C4 SYNTHASE DEFICIENCY | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | M1AP CL E G H | 130951 | 25183 | OMIM:619108 | SPERMATOGENIC FAILURE 48; SPGF48 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | . | | | 59 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MALT1 CL E G H | 10892 | 6819 | OMIM:615468 | Immunodeficiency 12 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:260540 | Supranuclear palsy, progressive atypical | . | | | 140 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MARK3 CL E G H | 4140 | 6897 | OMIM:618283 | Visual impairment and progressive phthisis bulbi | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MARVELD2 CL E G H | 153562 | 26401 | OMIM:610153 | Deafness, autosomal recessive 49 | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MAT1A CL E G H | 4143 | 6903 | OMIM:250850 | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MBOAT7 CL E G H | 79143 | 15505 | OMIM:617188 | Mental retardation, autosomal recessive 57 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MC2R CL E G H | 4158 | 6930 | OMIM:202200 | Glucocorticoid deficiency 1 | . | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCEE CL E G H | 84693 | 16732 | OMIM:251120 | Methylmalonyl-Coa epimerase deficiency | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCFD2 CL E G H | 90411 | 18451 | OMIM:613625 | Factor V and factor VIII, combined deficiency of | | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCM5 CL E G H | 4174 | 6948 | OMIM:617564 | Meier-Gorlin syndrome 8 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCM8 CL E G H | 84515 | 16147 | OMIM:612885 | Premature ovarian failure 10 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCM9 CL E G H | 254394 | 21484 | OMIM:616185 | Ovarian dysgenesis 4 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MCPH1 CL E G H | 79648 | 6954 | OMIM:251200 | Microcephaly, primary autosomal recessive, 1 | . | | | 155 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MED23 CL E G H | 9439 | 2372 | OMIM:614249 | Mental retardation, autosomal recessive 18 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MEI1 CL E G H | 150365 | 28613 | OMIM:618431 | Hydatidiform mole, recurrent, 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MEIOB CL E G H | 254528 | 28569 | OMIM:617706 | Spermatogenic failure 22 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:608681 | Spondylocostal dysostosis 2, autosomal recessive | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MET CL E G H | 4233 | 7029 | OMIM:616705 | DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97 | | | | 375 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | METTL23 CL E G H | 124512 | 26988 | OMIM:615942 | Mental retardation, autosomal recessive 44 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:609549 | Nanophthalmos 2 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:616170 | Macular dystrophy with central cone involvement | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MIPEP CL E G H | 4285 | 7104 | OMIM:617228 | Combined oxidative phosphorylation deficiency 31 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MITF CL E G H | 4286 | 7105 | OMIM:617306 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | . | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:605231 | Bardet-Biedl syndrome 6 | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MLC1 CL E G H | 23209 | 17082 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | . | | | 112 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MLPH CL E G H | 79083 | 29643 | OMIM:609227 | Griscelli syndrome, type 3 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP14 CL E G H | 4323 | 7160 | OMIM:277950 | Winchester syndrome | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP20 CL E G H | 9313 | 7167 | OMIM:612529 | Amelogenesis imperfecta, hypomaturation type, iia2 | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMP9 CL E G H | 4318 | 7176 | OMIM:613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MNS1 CL E G H | 55329 | 29636 | OMIM:618948 | HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MOV10L1 CL E G H | 54456 | 7201 | OMIM:619878 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPDZ CL E G H | 8777 | 7208 | OMIM:615219 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPIG6B CL E G H | 80739 | 13937 | OMIM:617441 | Thrombocytopenia, anemia, and myelofibrosis | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPL CL E G H | 4352 | 7217 | OMIM:604498 | Amegakaryocytic thrombocytopenia, congenital | . | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPO CL E G H | 4353 | 7218 | OMIM:254600 | Myeloperoxidase deficiency | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MPZL2 CL E G H | 10205 | 3496 | OMIM:618145 | Deafness, autosomal recessive 111 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRAP CL E G H | 56246 | 1304 | OMIM:607398 | Glucocorticoid deficiency 2 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPL44 CL E G H | 65080 | 16650 | OMIM:615395 | Combined oxidative phosphorylation deficiency 16 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:618117 | Ovarian dysgenesis 7 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS23 CL E G H | 51649 | 14509 | OMIM:618952 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MRTFA CL E G H | 57591 | 14334 | OMIM:618847 | IMMUNODEFICIENCY 66; IMD66 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MS4A1 CL E G H | 931 | 7315 | OMIM:613495 | Immunodeficiency, common variable, 5 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:619096 | MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2 | | | | 2162 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:619938 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:108420 | Spermatogenic failure 2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH5 CL E G H | 4439 | 7328 | OMIM:619937 | | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH5 CL E G H | 4439 | 7328 | OMIM:617442 | Premature ovarian failure 13 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSRB3 CL E G H | 253827 | 27375 | OMIM:613718 | Deafness, autosomal recessive 74 | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSTN CL E G H | 2660 | 4223 | OMIM:614160 | MUSCLE HYPERTROPHY; MSLHP | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:614947 | Combined oxidative phosphorylation deficiency 15 | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:236250 | Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity | | | | 183 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 183 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTO1 CL E G H | 25821 | 19261 | OMIM:614702 | Combined oxidative phosphorylation deficiency 10 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTPAP CL E G H | 55149 | 25532 | OMIM:613672 | Spastic ataxia 4, autosomal recessive | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTR CL E G H | 4548 | 7468 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 217 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTTP CL E G H | 4547 | 7467 | OMIM:200100 | ABETALIPOPROTEINEMIA | . | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MUTYH CL E G H | 4595 | 7527 | OMIM:608456 | Familial adenomatous polyposis, 2 | . | | | 592 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614915 | Lethal congenital contracture syndrome 4 | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYH2 CL E G H | 4620 | 7572 | OMIM:605637 | Myopathy, proximal, and ophthalmoplegia | . | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYLK CL E G H | 4638 | 7590 | OMIM:249210 | MOVED TO 155310 | | | | 326 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO15A CL E G H | 51168 | 7594 | OMIM:600316 | Deafness, neurosensory, autosomal recessive 3 | . | | | 387 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO3A CL E G H | 53904 | 7601 | OMIM:607101 | Deafness, autosomal recessive 30 | | | | 168 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO5A CL E G H | 4644 | 7602 | OMIM:214450 | Griscelli syndrome, type 1 | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:251850 | Diarrhea 2, with microvillous atrophy | . | | | 192 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO6 CL E G H | 4646 | 7605 | OMIM:607821 | Deafness, autosomal recessive 37 | . | | | 179 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:600060 | Deafness, neurosensory, autosomal recessive 2 | . | | | 516 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:276900 | Usher syndrome, type I | . | | | 516 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | . | | | 217 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609241 | Schindler disease, type I | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAPB CL E G H | 63908 | 15751 | OMIM:620033 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:618434 | Deafness, autosomal recessive 94 | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCAPD2 CL E G H | 9918 | 24305 | OMIM:617983 | Microcephaly 21, primary, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCAPD3 CL E G H | 23310 | 28952 | OMIM:617984 | Microcephaly 22, primary, autosomal recessive | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCAPH CL E G H | 23397 | 1112 | OMIM:617985 | Microcephaly 23, primary, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA10 CL E G H | 4705 | 7684 | OMIM:618243 | Mitochondrial complex I deficiency, nuclear type 22 | . | | | 91 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFB3 CL E G H | 4709 | 7698 | OMIM:618246 | Mitochondrial complex I deficiency, nuclear type 25 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFB8 CL E G H | 4714 | 7703 | OMIM:618252 | Mitochondrial complex I deficiency, nuclear type 32 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS2 CL E G H | 4720 | 7708 | OMIM:618228 | Mitochondrial complex I deficiency, nuclear type 6 | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS6 CL E G H | 4726 | 7713 | OMIM:618232 | Mitochondrial complex I deficiency, nuclear type 9 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NDUFV2 CL E G H | 4729 | 7717 | OMIM:618229 | Mitochondrial complex I deficiency, nuclear type 7 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK10 CL E G H | 152110 | 18592 | OMIM:618781 | CILIARY DYSKINESIA, PRIMARY, 44; CILD44 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK2 CL E G H | 4751 | 7745 | OMIM:615565 | Retinitis pigmentosa 67 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NEUROG3 CL E G H | 50674 | 13806 | OMIM:610370 | Diarrhea 4, malabsorptive, congenital | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NHLH2 CL E G H | 4808 | 7818 | OMIM:619755 | HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:618803 | RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP | | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NLRP7 CL E G H | 199713 | 22947 | OMIM:231090 | Hydatidiform mole, recurrent, 1 | . | | | 171 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NME8 CL E G H | 51314 | 16473 | OMIM:610852 | Ciliary dyskinesia, primary, 6 | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | . | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | . | | | 220 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | . | | | 241 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPPA CL E G H | 4878 | 7939 | OMIM:615745 | Atrial standstill 2 | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NR0B2 CL E G H | 8431 | 7961 | OMIM:601665 | OBESITY | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:268100 | Enhanced S-cone syndrome | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | | | | 470 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NT5C3A CL E G H | 51251 | 17820 | OMIM:266120 | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NT5E CL E G H | 4907 | 8021 | OMIM:211800 | Calcification of joints and arteries | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUAK2 CL E G H | 81788 | 29558 | OMIM:619452 | ANENCEPHALY 2; ANPH2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618078 | Ovarian dysgenesis 6 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP155 CL E G H | 9631 | 8063 | OMIM:615770 | Atrial fibrillation, familial, 15 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP205 CL E G H | 23165 | 18658 | OMIM:616893 | NEPHROTIC SYNDROME, TYPE 13; NPHS13 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP37 CL E G H | 79023 | 29929 | OMIM:618179 | Microcephaly 24, primary, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP62 CL E G H | 23636 | 8066 | OMIM:271930 | Striatonigral degeneration, infantile | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | . | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | . | | | 143 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ODAD4 CL E G H | 83538 | 25280 | OMIM:617092 | Ciliary dyskinesia, primary, 35 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OGDH CL E G H | 4967 | 8124 | OMIM:203740 | Alpha-Ketoglutarate dehydrogenase deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:258501 | 3-methylglutaconic aciduria, type III | | | | 163 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OPLAH CL E G H | 26873 | 8149 | OMIM:260005 | 5-@oxoprolinase deficiency | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OTOA CL E G H | 146183 | 16378 | OMIM:607039 | Deafness, autosomal recessive 22 | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OTOF CL E G H | 9381 | 8515 | OMIM:601071 | Deafness, autosomal recessive 9 | | | | 383 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OTOG CL E G H | 340990 | 8516 | OMIM:614945 | Deafness, autosomal recessive 18B | . | | | 165 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OTOGL CL E G H | 283310 | 26901 | OMIM:614944 | Deafness, autosomal recessive 84B | . | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OXCT1 CL E G H | 5019 | 8527 | OMIM:245050 | Succinyl CoA:3-oxoacid CoA transferase deficiency | | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | OXR1 CL E G H | 55074 | 15822 | OMIM:213000 | Cerebellar hypoplasia | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PADI3 CL E G H | 51702 | 18337 | OMIM:191480 | UNCOMBABLE HAIR SYNDROME 1; UHS1 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PADI6 CL E G H | 353238 | 20449 | OMIM:617234 | Preimplantation embryonic lethality 2 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | | | | 1349 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PATL2 CL E G H | 197135 | 33630 | OMIM:617743 | Oocyte maturation defect 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCBD1 CL E G H | 5092 | 8646 | OMIM:264070 | Hyperphenylalaninemia, BH4-deficient, D | | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCDH12 CL E G H | 51294 | 8657 | OMIM:251280 | Microcephaly, seizures, spasticity, and brain calcifications | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCDH15 CL E G H | 65217 | 14674 | OMIM:609533 | Deafness, autosomal recessive 23 | . | | | 352 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCDH15 CL E G H | 65217 | 14674 | OMIM:601067 | Usher syndrome, type ID | . | | | 352 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCDH15 CL E G H | 65217 | 14674 | OMIM:602083 | Usher syndrome, type IF | . | | | 352 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCK2 CL E G H | 5106 | 8725 | OMIM:261650 | Phosphoenolpyruvate carboxykinase 2, mitochondrial | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PCYT2 CL E G H | 5833 | 8756 | OMIM:618770 | SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDCD6IP CL E G H | 10015 | 8766 | OMIM:620047 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6C CL E G H | 5146 | 8787 | OMIM:613093 | Cone dystrophy 4 | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDHA2 CL E G H | 5161 | 8807 | OMIM:619828 | SPERMATOGENIC FAILURE 70; SPGF70 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDP1 CL E G H | 54704 | 9279 | OMIM:608782 | Pyruvate dehydrogenase phosphatase deficiency | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDSS1 CL E G H | 23590 | 17759 | OMIM:614651 | Coenzyme Q10 deficiency, primary, 2 | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDSS2 CL E G H | 57107 | 23041 | OMIM:614652 | Coenzyme Q10 deficiency, primary, 3 | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | . | | | 30 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDXK CL E G H | 8566 | 8819 | OMIM:618511 | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDZD7 CL E G H | 79955 | 26257 | OMIM:618003 | DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57 | | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDZD7 CL E G H | 79955 | 26257 | OMIM:276901 | Usher syndrome, type IIA | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDZD7 CL E G H | 79955 | 26257 | OMIM:605472 | Usher syndrome, type IIC | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PERCC1 CL E G H | 105371045 | 52293 | OMIM:618662 | DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | . | | | 169 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614885 | Peroxisome biogenesis disorder 11B | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614873 | Peroxisome biogenesis disorder 7B | . | | | 106 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:614879 | Peroxisome biogenesis disorder 9B | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PGR CL E G H | 5241 | 8910 | OMIM:264080 | Progesterone resistance | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHC1 CL E G H | 1911 | 3182 | OMIM:615414 | Microcephaly 11, primary, autosomal recessive | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHOX2A CL E G H | 401 | 691 | OMIM:602078 | Fibrosis of extraocular muscles, congenital, 2 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIBF1 CL E G H | 10464 | 23352 | OMIM:617767 | Joubert syndrome 33 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGC CL E G H | 5279 | 8960 | OMIM:617816 | Glycosylphosphatidylinositol biosynthesis defect 16 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:615214 | Agammaglobulinemia 7, autosomal recessive | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PIP5K1C CL E G H | 23396 | 8996 | OMIM:611369 | Lethal congenital contracture syndrome 3 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:610623 | Cataract 11, multiple types | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PJVK CL E G H | 494513 | 29502 | OMIM:610220 | Deafness, autosomal recessive 59 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLA2G4A CL E G H | 5321 | 9035 | OMIM:618372 | GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLA2G7 CL E G H | 7941 | 9040 | OMIM:614278 | Platelet-Activating factor acetylhydrolase deficiency | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCB1 CL E G H | 23236 | 15917 | OMIM:613722 | Epileptic encephalopathy, early infantile, 12 | . | | | 119 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCD1 CL E G H | 5333 | 9060 | OMIM:151600 | Nail disorder, nonsyndromic congenital, 3 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLCZ1 CL E G H | 89869 | 19218 | OMIM:617214 | Spermatogenic failure 17 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:616487 | Epidermolysis bullosa simplex with nail dystrophy | . | | | 759 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:612138 | Epidermolysis bullosa simplex with pyloric atresia | . | | | 759 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 759 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEKHG2 CL E G H | 64857 | 29515 | OMIM:616763 | Leukodystrophy and acquired microcephaly with or without dystonia | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | . | | | 186 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:611497 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLPBP CL E G H | 11212 | 9457 | OMIM:617290 | Epilepsy, early-onset, vitamin b6-dependent | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PMFBP1 CL E G H | 83449 | 17728 | OMIM:618112 | SPERMATOGENIC FAILURE 31; SPGF31 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:616267 | Ataxia-Oculomotor apraxia 4 | . | | | 244 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 244 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:613402 | Microcephaly, seizures, and developmental delay | | | | 244 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNLDC1 CL E G H | 154197 | 21185 | OMIM:619528 | SPERMATOGENIC FAILURE 57; SPGF57 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNLIP CL E G H | 5406 | 9155 | OMIM:614338 | Pancreatic lipase deficiency | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | . | | | 103 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | | | | 103 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPO CL E G H | 55163 | 30260 | OMIM:610090 | Pyridoxamine 5-prime-phosphate oxidase deficiency | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614934 | DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70 | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | . | | | 1129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:248390 | Treacher collins syndrome 3 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMC CL E G H | 5443 | 9201 | OMIM:601665 | OBESITY | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | . | | | 221 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POR CL E G H | 5447 | 9208 | OMIM:613571 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPA2 CL E G H | 27068 | 28883 | OMIM:617223 | Sudden cardiac failure, alcohol-induced | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPA2 CL E G H | 27068 | 28883 | OMIM:617222 | Sudden cardiac failure, infantile | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:601665 | OBESITY | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPCS CL E G H | 79717 | 25686 | OMIM:618189 | Cardiomyopathy, dilated, 2C | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPIB CL E G H | 5479 | 9255 | OMIM:259440 | Osteogenesis imperfecta, type IX | | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPIP5K2 CL E G H | 23262 | 29035 | OMIM:618422 | Deafness, autosomal recessive 100 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPM1K CL E G H | 152926 | 25415 | OMIM:615135 | MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRG4 CL E G H | 10216 | 9364 | OMIM:208250 | Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKACG CL E G H | 5568 | 9382 | OMIM:616176 | Bleeding disorder, platelet-type, 19 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRLR CL E G H | 5618 | 9446 | OMIM:615555 | HYPERPROLACTINEMIA | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PROC CL E G H | 5624 | 9451 | OMIM:612304 | Thrombophilia due to protein C deficiency, autosomal recessive | . | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:614514 | Thrombophilia due to protein S deficiency, autosomal recessive | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | . | | | 159 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 159 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRSS12 CL E G H | 8492 | 9477 | OMIM:249500 | Mental retardation, autosomal recessive 1 | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMB1 CL E G H | 5689 | 9537 | OMIM:620038 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMC3IP CL E G H | 29893 | 17928 | OMIM:614324 | Ovarian dysgenesis 3 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PSPH CL E G H | 5723 | 9577 | OMIM:614023 | Phosphoserine phosphatase deficiency | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:615935 | Pancreatic agenesis 2 | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTGER2 CL E G H | 5732 | 9594 | OMIM:208550 | Asthma, nasal polyps, and aspirin intolerance | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTPN14 CL E G H | 5784 | 9647 | OMIM:613611 | Choanal atresia and lymphedema | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTPRO CL E G H | 5800 | 9678 | OMIM:614196 | Nephrotic syndrome, type 6 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTPRQ CL E G H | 374462 | 9679 | OMIM:613391 | Deafness, autosomal recessive 84 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | QRICH2 CL E G H | 84074 | 25326 | OMIM:618341 | Spermatogenic failure 35 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RACGAP1 CL E G H | 29127 | 9804 | OMIM:619789 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAD50 CL E G H | 10111 | 9816 | OMIM:613078 | NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD | | | | 789 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:233650 | Combined cellular and humoral immune defects with granulomas | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RASGRP2 CL E G H | 10235 | 9879 | OMIM:615888 | Bleeding disorder, platelet-type, 18 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAX CL E G H | 30062 | 18662 | OMIM:611038 | Microphthalmia, isolated 3 | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RCBTB1 CL E G H | 55213 | 18243 | OMIM:617175 | RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RD3 CL E G H | 343035 | 19689 | OMIM:610612 | Leber congenital amaurosis 12 | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RDH11 CL E G H | 51109 | 17964 | OMIM:616108 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RDX CL E G H | 5962 | 9944 | OMIM:611022 | Deafness, autosomal recessive, 24 | . | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:266280 | Rapadilino syndrome | . | | | 445 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REEP2 CL E G H | 51308 | 17975 | OMIM:615625 | Spastic paraplegia 72, autosomal recessive | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REEP6 CL E G H | 92840 | 30078 | OMIM:617304 | Retinitis pigmentosa 77 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RELB CL E G H | 5971 | 9956 | OMIM:617585 | Immunodeficiency 53 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | | | | 334 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REN CL E G H | 5972 | 9958 | OMIM:267430 | Renal tubular dysgenesis | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RGR CL E G H | 5995 | 9990 | OMIM:613769 | RETINITIS PIGMENTOSA 44; RP44 | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RGS9 CL E G H | 8787 | 10004 | OMIM:608415 | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RGS9BP CL E G H | 388531 | 30304 | OMIM:608415 | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | . | | | 107 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | . | | | 107 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RHOH CL E G H | 399 | 686 | OMIM:618307 | Epidermodysplasia verruciformis, susceptibility to, 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIMS2 CL E G H | 9699 | 17283 | OMIM:618970 | CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:214350 | CHANDS | . | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:616515 | Deafness, autosomal recessive 104 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RIPPLY2 CL E G H | 134701 | 21390 | OMIM:616566 | Spondylocostal dysostosis 6, autosomal recessive | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:607475 | Bothnia retinal dystrophy | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:607476 | NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD | | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | . | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNF168 CL E G H | 165918 | 26661 | OMIM:611943 | Riddle syndrome | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNF212 CL E G H | 285498 | 27729 | OMIM:619673 | SPERMATOGENIC FAILURE 62; SPGF62 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNF213 CL E G H | 57674 | 14539 | OMIM:607151 | MOYAMOYA DISEASE 2; MYMY2 | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNF216 CL E G H | 54476 | 21698 | OMIM:212840 | Cerebellar ataxia and hypogonadotropic hypogonadism | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNF220 CL E G H | 55182 | 25552 | OMIM:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNPC3 CL E G H | 55599 | 18666 | OMIM:618160 | Isolated growth hormone deficiency, type V | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | . | | | 90 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 38 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ROR1 CL E G H | 4919 | 10256 | OMIM:617654 | Deafness, autosomal recessive 108 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RORC CL E G H | 6097 | 10260 | OMIM:616622 | Immunodeficiency 42 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | . | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:613794 | Retinitis pigmentosa 20 | . | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:608194 | CONE-ROD DYSTROPHY 13; CORD13 | | | | 109 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPIA CL E G H | 22934 | 10297 | OMIM:608611 | Ribose 5-phosphate isomerase deficiency | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPL10L CL E G H | 140801 | 17976 | OMIM:619689 | SPERMATOGENIC FAILURE 63; SPGF63 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RPL3L CL E G H | 6123 | 10351 | OMIM:619371 | CARDIOMYOPATHY, DILATED, 2D; CMD2D | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | . | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RRP7A CL E G H | 27341 | 24286 | OMIM:619453 | MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPH1 CL E G H | 89765 | 12371 | OMIM:615481 | Ciliary dyskinesia, primary, 24 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPH4A CL E G H | 345895 | 21558 | OMIM:612649 | Ciliary dyskinesia, primary, 11 | | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPO4 CL E G H | 343637 | 16175 | OMIM:206800 | Anonychia congenita | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RXYLT1 CL E G H | 10329 | 13530 | OMIM:615041 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | | | | 1200 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | S1PR2 CL E G H | 9294 | 3169 | OMIM:610419 | Deafness, autosomal recessive 68 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SAG CL E G H | 6295 | 10521 | OMIM:258100 | Oguchi disease 1 | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:610455 | Tumoral calcinosis, normophosphatemic, familial | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:252270 | Myelodysplasia and leukemia syndrome with monosomy 7 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SARS1 CL E G H | 6301 | 10537 | OMIM:617709 | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SASS6 CL E G H | 163786 | 25403 | OMIM:616402 | Microcephaly 14, primary, autosomal recessive | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | . | | | 263 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:608567 | SICK SINUS SYNDROME 1; SSS1 | | | | 1134 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | . | | | 1134 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | . | | | 318 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDC3 CL E G H | 9672 | 10660 | OMIM:601665 | OBESITY | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:613615 | SENIOR-LOKEN SYNDROME 7; SLSN7 | | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:613642 | Cardiomyopathy, dilated, 1gg | . | | | 304 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDHAF1 CL E G H | 644096 | 33867 | OMIM:619166 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2 | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SDR9C7 CL E G H | 121214 | 29958 | OMIM:617574 | Ichthyosis, congenital, autosomal recessive 13 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SELENBP1 CL E G H | 8991 | 10719 | OMIM:618148 | Extraoral halitosis due to MTO deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610282 | Retinitis pigmentosa 35 | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEMA7A CL E G H | 8482 | 10741 | OMIM:619874 | | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINB6 CL E G H | 5269 | 8950 | OMIM:613453 | Deafness, autosomal recessive 91 | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINB7 CL E G H | 8710 | 13902 | OMIM:615598 | Palmoplantar keratoderma, Nagashima type | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINB8 CL E G H | 5271 | 8952 | OMIM:617115 | Peeling skin syndrome 5 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINC1 CL E G H | 462 | 775 | OMIM:613118 | Antithrombin III deficiency | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINE1 CL E G H | 5054 | 8583 | OMIM:613329 | Plasminogen activator inhibitor-1 deficiency | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINF1 CL E G H | 5176 | 8824 | OMIM:613982 | Osteogenesis imperfecta, type VI | . | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINF2 CL E G H | 5345 | 9075 | OMIM:262850 | Plasmin inhibitor deficiency | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | . | | | 64 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SFXN4 CL E G H | 119559 | 16088 | OMIM:615578 | Combined oxidative phosphorylation deficiency 18 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | . | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGO1 CL E G H | 151648 | 25088 | OMIM:616201 | Chronic atrial and intestinal dysrhythmia | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SHOC1 CL E G H | 158401 | 26535 | OMIM:619949 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619921 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SI CL E G H | 6476 | 10856 | OMIM:222900 | Sucrase-isomaltase deficiency, congenital | | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:614373 | Amyotrophic lateral sclerosis 16, juvenile | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SIPA1L3 CL E G H | 23094 | 23801 | OMIM:616851 | CATARACT 45; CTRCT45 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC10A2 CL E G H | 6555 | 10906 | OMIM:613291 | Bile acid malabsorption, primary | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC11A2 CL E G H | 4891 | 10908 | OMIM:206100 | Anemia, hypochromic microcytic, with iron overload 1 | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:616095 | Monocarboxylate transporter 1 deficiency | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:604369 | Salla disease | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC1A1 CL E G H | 6505 | 10939 | OMIM:222730 | Dicarboxylicamino aciduria | | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:268210 | Rhabdomyosarcoma 1 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC24A1 CL E G H | 9187 | 10975 | OMIM:613830 | Night blindness, congenital stationary, type 1D | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC24A4 CL E G H | 123041 | 10978 | OMIM:615887 | Amelogenesis imperfecta, hypomaturation type, iia5 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC24A5 CL E G H | 283652 | 20611 | OMIM:113750 | Albinism, oculocutaneous, type VI | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:607196 | Microcephaly, Amish type | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | . | | | 36 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A22 CL E G H | 79751 | 19954 | OMIM:609304 | Epileptic encephalopathy, early infantile, 3 | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A3 CL E G H | 5250 | 10989 | OMIM:610773 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | | | | 35 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A32 CL E G H | 81034 | 29683 | OMIM:616839 | EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A38 CL E G H | 54977 | 26054 | OMIM:205950 | Anemia, sideroblastic, 2, pyridoxine-refractory | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | . | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A1 CL E G H | 10861 | 10993 | OMIM:167030 | Nephrolithiasis, calcium oxalate | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:600791 | Enlarged vestibular aqueduct | . | | | 274 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | . | | | 274 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC26A5 CL E G H | 375611 | 9359 | OMIM:613865 | DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61 | | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:606777 | Glut1 deficiency syndrome 1 | HP:0040283 - Occasional | | | 255 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:613388 | Fanconi renotubular syndrome 2 | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:616963 | HYPERCALCEMIA, INFANTILE, 2; HCINF2 | | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC34A2 CL E G H | 10568 | 11020 | OMIM:265100 | Pulmonary alveolar microlithiasis | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC36A2 CL E G H | 153201 | 18762 | OMIM:242600 | IMINOGLYCINURIA | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC38A3 CL E G H | 10991 | 18044 | OMIM:619881 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC3A1 CL E G H | 6519 | 11025 | OMIM:220100 | CYSTINURIA | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:217400 | Corneal endothelial dystrophy and perceptive deafness | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:217700 | CORNEAL ENDOTHELIAL DYSTROPHY; CHED | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC5A1 CL E G H | 6523 | 11036 | OMIM:606824 | Glucose/galactose malabsorption | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | . | | | 59 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A19 CL E G H | 340024 | 27960 | OMIM:234500 | Hartnup disorder | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A19 CL E G H | 340024 | 27960 | OMIM:242600 | IMINOGLYCINURIA | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A20 CL E G H | 54716 | 30927 | OMIM:242600 | IMINOGLYCINURIA | . | | | 96 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | . | | | 81 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC7A14 CL E G H | 57709 | 29326 | OMIM:615725 | Retinitis pigmentosa 68 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC7A6OS CL E G H | 84138 | 25807 | OMIM:619191 | EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC7A9 CL E G H | 11136 | 11067 | OMIM:220100 | CYSTINURIA | . | | | 58 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLC9A3 CL E G H | 6550 | 11073 | OMIM:616868 | Diarrhea 8, secretory sodium, congenital | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLITRK6 CL E G H | 84189 | 23503 | OMIM:221200 | Deafness and myopia | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLURP1 CL E G H | 57152 | 18746 | OMIM:248300 | Meleda disease | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | . | | | 274 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | . | | | 164 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SOBP CL E G H | 55084 | 29256 | OMIM:613671 | Mental retardation, anterior maxillary protrusion, and strabismus | . | | | 29 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SOHLH1 CL E G H | 402381 | 27845 | OMIM:617690 | Ovarian dysgenesis 5 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SP110 CL E G H | 3431 | 5401 | OMIM:235550 | Hepatic venoocclusive disease with immunodeficiency | . | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPAG17 CL E G H | 200162 | 26620 | OMIM:619380 | SPERMATOGENIC FAILURE 55; SPGF55 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPARC CL E G H | 6678 | 11219 | OMIM:616507 | Osteogenesis imperfecta, type XVII | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPATA16 CL E G H | 83893 | 29935 | OMIM:102530 | SPERMATOGENIC FAILURE 6; SPGF6 | | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619615 | DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPATA7 CL E G H | 55812 | 20423 | OMIM:604232 | LEBER CONGENITAL AMAUROSIS 3; LCA3 | | | | 48 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPEF2 CL E G H | 79925 | 26293 | OMIM:618751 | SPERMATOGENIC FAILURE 43; SPGF43 | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPEG CL E G H | 10290 | 16901 | OMIM:615959 | Myopathy, centronuclear, 5 | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | . | | | 287 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | . | | | 287 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPINK2 CL E G H | 6691 | 11245 | OMIM:618091 | Spermatogenic failure 29 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPNS2 CL E G H | 124976 | 26992 | OMIM:618457 | Deafness, autosomal recessive 115 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPPL2A CL E G H | 84888 | 30227 | OMIM:619549 | IMMUNODEFICIENCY 86; IMD86 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:266140 | Pyropoikilocytosis, hereditary | . | | | 228 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:270970 | Spherocytosis, autosomal recessive | . | | | 228 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | . | | | 126 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SRD5A2 CL E G H | 6716 | 11285 | OMIM:264600 | Pseudovaginal perineoscrotal hypospadias | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:611090 | Mental retardation, autosomal recessive 12 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:619672 | SPERMATOGENIC FAILURE 61; SPGF61 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAR CL E G H | 6770 | 11359 | OMIM:201710 | Lipoid congenital adrenal hyperplasia | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:613796 | Mycobacterial and viral infections, susceptibility to, autosomal recessive | . | | | 89 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STIL CL E G H | 6491 | 10879 | OMIM:612703 | Microcephaly 7, primary, autosomal recessive | . | | | 99 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STN1 CL E G H | 79991 | 26200 | OMIM:617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STRC CL E G H | 161497 | 16035 | OMIM:603720 | DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 | | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STRC CL E G H | 161497 | 16035 | OMIM:611102 | Deafness, sensorineural, and male infertility | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STRC CL E G H | 161497 | 16035 | OMIM:612997 | Spermatogenic failure 7 | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:615596 | Congenital disorder of glycosylation, type Iw | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619445 | DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 124 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUGCT CL E G H | 79783 | 16001 | OMIM:231690 | Glutaric aciduria III | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUN5 CL E G H | 140732 | 16252 | OMIM:617187 | Spermatogenic failure 16 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYCE1 CL E G H | 93426 | 28852 | OMIM:616947 | PREMATURE OVARIAN FAILURE 12; POF12 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYCE1 CL E G H | 93426 | 28852 | OMIM:616950 | Spermatogenic failure 15 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYCP2 CL E G H | 10388 | 11490 | OMIM:258150 | SPERMATOGENIC FAILURE 1; SPGF1 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | . | | | 1129 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYNE4 CL E G H | 163183 | 26703 | OMIM:615540 | Deafness, autosomal recessive 76 | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | SZT2 CL E G H | 23334 | 29040 | OMIM:615476 | Epileptic encephalopathy, early infantile, 18 | . | | | 123 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAC3 CL E G H | 6866 | 11521 | OMIM:614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TACSTD2 CL E G H | 4070 | 11530 | OMIM:204870 | Corneal dystrophy, gelatinous drop-like | . | | | 42 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAF13 CL E G H | 6884 | 11546 | OMIM:617432 | Mental retardation, autosomal recessive 60 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAF4B CL E G H | 6875 | 11538 | OMIM:615841 | Spermatogenic failure 13 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TAT CL E G H | 6898 | 11573 | OMIM:276600 | Tyrosine transaminase deficiency | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:614617 | Deafness, autosomal recessive 86 | . | | | 271 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | . | | | 271 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:605021 | Myoclonic epilepsy, familial infantile | . | | | 271 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX21 CL E G H | 30009 | 11599 | OMIM:208550 | Asthma, nasal polyps, and aspirin intolerance | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX4 CL E G H | 9496 | 11603 | OMIM:601360 | Amelia, autosomal recessive | . | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | . | | | 16 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TBXT CL E G H | 6862 | 11515 | OMIM:615709 | Sacral agenesis with vertebral anomalies | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCHH CL E G H | 7062 | 11791 | OMIM:617252 | Uncombable hair syndrome 3 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | . | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCTN1 CL E G H | 79600 | 26113 | OMIM:614173 | Joubert syndrome 13 | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TDRD7 CL E G H | 23424 | 30831 | OMIM:613887 | Cataract, autosomal recessive congenital 4 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TDRD9 CL E G H | 122402 | 20122 | OMIM:618110 | Spermatogenic failure 30 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TECR CL E G H | 9524 | 4551 | OMIM:614020 | Mental retardation, autosomal recessive 14 | . | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TECRL CL E G H | 253017 | 27365 | OMIM:614021 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TECTA CL E G H | 7007 | 11720 | OMIM:603629 | DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 | | | | 222 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TELO2 CL E G H | 9894 | 29099 | OMIM:616954 | You-Hoover-Fong syndrome | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TERB1 CL E G H | 283847 | 26675 | OMIM:619646 | SPERMATOGENIC FAILURE 60; SPGF60 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TERB2 CL E G H | 145645 | 28520 | OMIM:619645 | SPERMATOGENIC FAILURE 59; SPGF59 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TEX14 CL E G H | 56155 | 11737 | OMIM:617707 | Spermatogenic failure 23 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TEX15 CL E G H | 56154 | 11738 | OMIM:617960 | Spermatogenic failure 25 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TF CL E G H | 7018 | 11740 | OMIM:209300 | ATRANSFERRINEMIA | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | . | | | 18 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TG CL E G H | 7038 | 11764 | OMIM:274700 | Thyroid hormonogenesis, genetic defect in, 3 | . | | | 155 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | . | | | 98 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TGM3 CL E G H | 7053 | 11779 | OMIM:617251 | Uncombable hair syndrome 2 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TGM5 CL E G H | 9333 | 11781 | OMIM:609796 | Peeling skin syndrome, Acral type | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | . | | | 161 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TICAM1 CL E G H | 148022 | 18348 | OMIM:614850 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TIMMDC1 CL E G H | 51300 | 1321 | OMIM:618251 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:607748 | Hypercholanemia, familial | . | | | 149 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | . | | | 103 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TLE6 CL E G H | 79816 | 30788 | OMIM:616814 | Preimplantation embryonic lethality 1 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TLR3 CL E G H | 7098 | 11849 | OMIM:613002 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMC1 CL E G H | 117531 | 16513 | OMIM:600974 | DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 | | | | 109 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMC6 CL E G H | 11322 | 18021 | OMIM:226400 | Epidermodysplasia verruciformis, susceptibility to, 1 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMC8 CL E G H | 147138 | 20474 | OMIM:618231 | EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM132E CL E G H | 124842 | 26991 | OMIM:618481 | DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040282 - Frequent | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:615397 | Meckel syndrome, type 11 | . | | | 33 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM38B CL E G H | 55151 | 25535 | OMIM:615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM63C CL E G H | 57156 | 23787 | OMIM:619966 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:615991 | Bardet-Biedl syndrome 14 | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMIE CL E G H | 259236 | 30800 | OMIM:600971 | Deafness, autosomal recessive 6 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMPRSS15 CL E G H | 5651 | 9490 | OMIM:226200 | Enterokinase deficiency | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMPRSS3 CL E G H | 64699 | 11877 | OMIM:601072 | DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8 | | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMPRSS6 CL E G H | 164656 | 16517 | OMIM:206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | | | | 65 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF10B CL E G H | 8795 | 11905 | OMIM:275355 | Squamous cell carcinoma, head and neck | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFRSF4 CL E G H | 7293 | 11918 | OMIM:615593 | Immunodeficiency 16 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNIK CL E G H | 23043 | 30765 | OMIM:617028 | Mental retardation, autosomal recessive 54 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:611880 | Cardiomyopathy, dilated, 2A | . | | | 180 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPMT CL E G H | 7172 | 12014 | OMIM:610460 | THIOPURINE S-METHYLTRANSFERASE DEFICIENCY | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPO CL E G H | 7173 | 12015 | OMIM:274500 | Thyroid hormonogenesis, genetic defect in, 2A | . | | | 92 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TPRN CL E G H | 286262 | 26894 | OMIM:613307 | Deafness, autosomal recessive 79 | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC14 CL E G H | 55262 | 25604 | OMIM:618351 | Microcephaly 25, primary, autosomal recessive | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | . | | | 158 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRDN CL E G H | 10345 | 12261 | OMIM:615441 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5 | | | | 145 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TREH CL E G H | 11181 | 12266 | OMIM:612119 | Trehalase deficiency | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRH CL E G H | 7200 | 12298 | OMIM:275120 | Thyrotropin-Releasing hormone deficiency | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRHR CL E G H | 7201 | 12299 | OMIM:618573 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:615988 | Bardet-Biedl syndrome 11 | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIM36 CL E G H | 55521 | 16280 | OMIM:206500 | ANENCEPHALY; ANPH | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIOBP CL E G H | 11078 | 17009 | OMIM:609823 | Deafness, autosomal recessive 28 | . | | | 154 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:619011 | OOCYTE MATURATION DEFECT 9; OOMD9 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:617066 | Muscular dystrophy, congenital, Davignon-Chauveau type | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRPM1 CL E G H | 4308 | 7146 | OMIM:613216 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C | | | | 104 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRPM6 CL E G H | 140803 | 17995 | OMIM:602014 | Hypomagnesemia 1, intestinal | . | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSEN15 CL E G H | 116461 | 16791 | OMIM:617026 | Pontocerebellar hypoplasia, type 2F | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSEN34 CL E G H | 79042 | 15506 | OMIM:612390 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C | | | | 57 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | . | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:610204 | Pontocerebellar hypoplasia, type 5 | . | | | 102 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSGA10 CL E G H | 80705 | 14927 | OMIM:617961 | Spermatogenic failure 26 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:275200 | Hypothyroidism, congenital, nongoitrous, 1 | . | | | 97 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSPEAR CL E G H | 54084 | 1268 | OMIM:614861 | Deafness, autosomal recessive 98 | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSPEAR CL E G H | 54084 | 1268 | OMIM:618180 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | . | | | 39 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC12 CL E G H | 54970 | 23700 | OMIM:618801 | CILIARY DYSKINESIA, PRIMARY, 45; CILD45 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC21A CL E G H | 199223 | 30761 | OMIM:618429 | Spermatogenic failure 37 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613820 | Nephronophthisis 12 | | | | 132 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | . | | | 132 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC29 CL E G H | 83894 | 29936 | OMIM:618745 | SPERMATOGENIC FAILURE 42; SPGF42 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | . | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:615985 | Bardet-Biedl syndrome 8 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | . | | | 7128 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUBB8 CL E G H | 347688 | 20773 | OMIM:616780 | Oocyte maturation defect 2 | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUBGCP4 CL E G H | 27229 | 16691 | OMIM:616335 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TUSC3 CL E G H | 7991 | 30242 | OMIM:611093 | Mental retardation, autosomal recessive 7 | . | | | 76 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TXNRD2 CL E G H | 10587 | 18155 | OMIM:617825 | GLUCOCORTICOID DEFICIENCY 5; GCCD5 | | | | 85 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TYK2 CL E G H | 7297 | 12440 | OMIM:611521 | Immunodeficiency 35 | | | | 77 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TYR CL E G H | 7299 | 12442 | OMIM:606952 | Albinism, oculocutaneous, type IB | . | | | 146 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | TYRP1 CL E G H | 7306 | 12450 | OMIM:203290 | Albinism, oculocutaneous, type III | . | | | 62 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBE2T CL E G H | 29089 | 25009 | OMIM:616435 | Fanconi anemia, complementation group T | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBE4A CL E G H | 9354 | 12499 | OMIM:619639 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UCP3 CL E G H | 7352 | 12519 | OMIM:601665 | OBESITY | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UFM1 CL E G H | 51569 | 20597 | OMIM:617899 | Leukodystrophy, hypomyelinating, 14 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:620028 | | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:218800 | Crigler-Najjar syndrome, type I | | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:606785 | Crigler-najjar syndrome, type II | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:237900 | Hyperbilirubinemia, familial transient neonatal | . | | | 73 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | . | | | 135 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UNC93B1 CL E G H | 81622 | 13481 | OMIM:610551 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1 | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UNG CL E G H | 7374 | 12572 | OMIM:608106 | Immunodeficiency with hyper-igm, type 5 | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UPB1 CL E G H | 51733 | 16297 | OMIM:613161 | Beta-Ureidopropionase deficiency | . | | | 44 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UQCC3 CL E G H | 790955 | 34399 | OMIM:616111 | Mitochondrial complex III deficiency, nuclear type 9 | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UQCRB CL E G H | 7381 | 12582 | OMIM:615158 | Mitochondrial complex III deficiency, nuclear type 3 | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UQCRQ CL E G H | 27089 | 29594 | OMIM:615159 | Mitochondrial complex III deficiency, nuclear type 4 | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UROC1 CL E G H | 131669 | 26444 | OMIM:276880 | Urocanase deficiency | . | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | . | | | 31 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:602092 | DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A | | | | 173 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276900 | Usher syndrome, type I | . | | | 173 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276904 | Usher syndrome, type IC | . | | | 173 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USH1G CL E G H | 124590 | 16356 | OMIM:606943 | Usher syndrome, type IG | . | | | 78 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | | | | 777 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:276901 | Usher syndrome, type IIA | . | | | 777 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USP45 CL E G H | 85015 | 20080 | OMIM:618513 | LEBER CONGENITAL AMAUROSIS 19; LCA19 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | UVSSA CL E G H | 57654 | 29304 | OMIM:614640 | Uv-Sensitive syndrome 3 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VAMP1 CL E G H | 6843 | 12642 | OMIM:618323 | Myasthenic syndrome, congenital, 25, presynaptic | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | . | | | 56 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VKORC1 CL E G H | 79001 | 23663 | OMIM:607473 | Vitamin K-dependent clotting factors, combined deficiency of, 2 | | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VSX2 CL E G H | 338917 | 1975 | OMIM:610093 | MICROPHTHALMIA, ISOLATED 2; MCOP2 | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VSX2 CL E G H | 338917 | 1975 | OMIM:610092 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 | | | | 66 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | . | | | 533 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | . | | | 533 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | . | | | 25 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WBP2 CL E G H | 23558 | 12738 | OMIM:617639 | DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107 | | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:615992 | Bardet-Biedl syndrome 15 | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:619867 | | | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 51 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | . | | | 137 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WEE2 CL E G H | 494551 | 19684 | OMIM:617996 | Oocyte maturation defect 5 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WHRN CL E G H | 25861 | 16361 | OMIM:607084 | Deafness, autosomal recessive 31 | . | | | 155 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WHRN CL E G H | 25861 | 16361 | OMIM:611383 | Usher syndrome, type IID | . | | | 155 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WIPI2 CL E G H | 26100 | 32225 | OMIM:618453 | Intellectual developmental disorder with short stature and variable skeletal anomalies | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT1 CL E G H | 7471 | 12774 | OMIM:615220 | Osteogenesis imperfecta, type XV | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | . | | | 71 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT2B CL E G H | 7482 | 12781 | OMIM:618168 | Diarrhea 9 | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | . | | | 12 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | . | | | 13 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WRAP53 CL E G H | 55135 | 25522 | OMIM:613988 | Dyskeratosis congenita, autosomal recessive, 3 | . | | | 40 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | . | | | 310 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | . | | | 149 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:614322 | Spinocerebellar ataxia, autosomal recessive 12 | . | | | 149 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | . | | | 79 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | . | | | 109 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | . | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619146 | PREMATURE OVARIAN FAILURE 17; POF17 | | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619145 | SPERMATOGENIC FAILURE 50; SPGF50 | | | | 125 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | . | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | . | | | 45 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YIPF5 CL E G H | 81555 | 24877 | OMIM:619278 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | YY1AP1 CL E G H | 55249 | 30935 | OMIM:602531 | Grange syndrome | | | | 5 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | . | | | 46 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZBTB11 CL E G H | 27107 | 16740 | OMIM:618383 | Intellectual developmental disorder, autosomal recessive 69 | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | . | | | 9 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZBTB42 CL E G H | 100128927 | 32550 | OMIM:616248 | Lethal congenital contracture syndrome 6 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZC3H14 CL E G H | 79882 | 20509 | OMIM:617125 | Mental retardation, autosomal recessive 56 | . | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZMYND15 CL E G H | 84225 | 20997 | OMIM:615842 | Spermatogenic failure 14 | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | . | | | 3 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF142 CL E G H | 7701 | 12927 | OMIM:618425 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | . | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF423 CL E G H | 23090 | 16762 | OMIM:614844 | Nephronophthisis 14 | . | | | 49 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZP1 CL E G H | 22917 | 13187 | OMIM:615774 | Oocyte maturation defect | . | | | 1 | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZP2 CL E G H | 7783 | 13188 | OMIM:618353 | OOCYTE MATURATION DEFECT 6; OOMD6 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZPBP CL E G H | 11055 | 15662 | OMIM:619799 | SPERMATOGENIC FAILURE 66; SPGF66 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |
HP:0000007 | HP:0000007 | Autosomal recessive inheritance | 0 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619831 | SPERMATOGENIC FAILURE 71; SPGF71 | | | | | | |