Human Phenotype Ontology 
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Parent Node:
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Mode of inheritance (HP:0000005)help
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Autosomal recessive inheritance (HP:0000007)help
Term ID: 7
Name: Autosomal recessive inheritance
Synonym: Autosomal recessive; Autosomal recessive form; Autosomal recessive predisposition; biallelic_autosomal
Definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Comments:
Reference: HP:0000007
Genes and Diseases:
 
       Child Nodes:
........expandSex-limited autosomal recessive inheritance (HP:0031362) help

 Sister Nodes: 
..expandAutosomal dominant inheritance (HP:0000006) help
..expandContiguous gene syndrome (HP:0001466) help
..expandGenetic anticipation (HP:0003743) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandobsolete Gonosomal inheritance (HP:0010985) help
..expandobsolete Heterogeneous (HP:0001425) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000007HP:0000007Autosomal recessive inheritance0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000007HP:0000007Autosomal recessive inheritance0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0000007HP:0000007Autosomal recessive inheritance0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8.143
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0000007HP:0000007Autosomal recessive inheritance0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency.120
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A.130
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B.130
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H2434OMIM:248200Stargardt disease 1.826
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia.1
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H864742OMIM:605479Cholestasis, benign recurrent intrahepatic, 2.146
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H524445OMIM:614972Cholestasis, intrahepatic, of pregnancy 3HP:0040283 - Occasional111
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3.111
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H524445OMIM:600803Gallbladder disease 1.111
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC2 CL E G H124453OMIM:237500DUBIN-JOHNSON syndrome.119
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2.415
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG5 CL E G H6424013886OMIM:618666SITOSTEROLEMIA 2; STSL267
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0000007HP:0000007Autosomal recessive inheritance0ACACA CL E G H3184OMIM:613933Acetyl-CoA carboxylase deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD8 CL E G H2703487OMIM:611283Isobutyryl-CoA dehydrogenase deficiency.58
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0000007HP:0000007Autosomal recessive inheritance0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0000007HP:0000007Autosomal recessive inheritance0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0000007HP:0000007Autosomal recessive inheritance0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0000007HP:0000007Autosomal recessive inheritance0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0000007HP:0000007Autosomal recessive inheritance0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0000007HP:0000007Autosomal recessive inheritance0ACAT1 CL E G H3893OMIM:203750Alpha-Methylacetoacetic aciduria.91
HP:0000007HP:0000007Autosomal recessive inheritance0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0000007HP:0000007Autosomal recessive inheritance0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0000007HP:0000007Autosomal recessive inheritance0ACE CL E G H16362707OMIM:267430Renal tubular dysgenesis.113
HP:0000007HP:0000007Autosomal recessive inheritance0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0000007HP:0000007Autosomal recessive inheritance0ACKR3 CL E G H5700723692OMIM:619215OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50118OMIM:616289Optic atrophy 9.60
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0000007HP:0000007Autosomal recessive inheritance0ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:0000007HP:0000007Autosomal recessive inheritance0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0000007HP:0000007Autosomal recessive inheritance0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria68
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0000007HP:0000007Autosomal recessive inheritance0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0000007HP:0000007Autosomal recessive inheritance0ACTL9 CL E G H28438228494OMIM:619258SPERMATOGENIC FAILURE 53; SPGF53
HP:0000007HP:0000007Autosomal recessive inheritance0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0000007HP:0000007Autosomal recessive inheritance0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM9 CL E G H8754216OMIM:612775Cone-Rod dystrophy 9.41
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4.214
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus.8
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS19 CL E G H17101917111OMIM:6200671
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS3 CL E G H9508219OMIM:618154Hennekam lymphangiectasia-lymphedema syndrome 3.1
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H5450719706OMIM:225100Ectopia lentis.84
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillae.84
HP:0000007HP:0000007Autosomal recessive inheritance0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6.116
HP:0000007HP:0000007Autosomal recessive inheritance0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000007HP:0000007Autosomal recessive inheritance0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY1 CL E G H107232OMIM:610154Deafness, autosomal recessive 44.2
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19.
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0000007HP:0000007Autosomal recessive inheritance0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H92894512OMIM:615752POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR88
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRV1 CL E G H8405917416OMIM:605472Usher syndrome, type IIC.530
HP:0000007HP:0000007Autosomal recessive inheritance0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0000007HP:0000007Autosomal recessive inheritance0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0000007HP:0000007Autosomal recessive inheritance0ADRB2 CL E G H154286OMIM:601665OBESITY.5
HP:0000007HP:0000007Autosomal recessive inheritance0ADRB3 CL E G H155288OMIM:601665OBESITY.1
HP:0000007HP:0000007Autosomal recessive inheritance0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000007HP:0000007Autosomal recessive inheritance0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0000007HP:0000007Autosomal recessive inheritance0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000007HP:0000007Autosomal recessive inheritance0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0000007HP:0000007Autosomal recessive inheritance0AFP CL E G H174317OMIM:615969ALPHA-FETOPROTEIN DEFICIENCY; AFPD4
HP:0000007HP:0000007Autosomal recessive inheritance0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0000007HP:0000007Autosomal recessive inheritance0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 75.2
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H5575021869OMIM:614691Cataract, autosomal recessive congenital 5.82
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0000007HP:0000007Autosomal recessive inheritance0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0000007HP:0000007Autosomal recessive inheritance0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000007HP:0000007Autosomal recessive inheritance0AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3117
HP:0000007HP:0000007Autosomal recessive inheritance0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0000007HP:0000007Autosomal recessive inheritance0AGRP CL E G H181330OMIM:601665OBESITY.1
HP:0000007HP:0000007Autosomal recessive inheritance0AGT CL E G H183333OMIM:267430Renal tubular dysgenesis.48
HP:0000007HP:0000007Autosomal recessive inheritance0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0000007HP:0000007Autosomal recessive inheritance0AGTR1 CL E G H185336OMIM:267430Renal tubular dysgenesis.33
HP:0000007HP:0000007Autosomal recessive inheritance0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0000007HP:0000007Autosomal recessive inheritance0AHCY CL E G H191343OMIM:613752HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY.31
HP:0000007HP:0000007Autosomal recessive inheritance0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0000007HP:0000007Autosomal recessive inheritance0AHR CL E G H196348OMIM:618345RETINITIS PIGMENTOSA 85; RP852
HP:0000007HP:0000007Autosomal recessive inheritance0AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 1.5
HP:0000007HP:0000007Autosomal recessive inheritance0AICDA CL E G H5737913203OMIM:605258Immunodeficiency with hyper-igm, type 2.58
HP:0000007HP:0000007Autosomal recessive inheritance0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0000007HP:0000007Autosomal recessive inheritance0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0000007HP:0000007Autosomal recessive inheritance0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0000007HP:0000007Autosomal recessive inheritance0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4.114
HP:0000007HP:0000007Autosomal recessive inheritance0AIPL1 CL E G H23746359OMIM:268000Retinitis pigmentosa.114
HP:0000007HP:0000007Autosomal recessive inheritance0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000007HP:0000007Autosomal recessive inheritance0AK1 CL E G H203361OMIM:612631Adenylate kinase deficiency, hemolytic anemia due to.9
HP:0000007HP:0000007Autosomal recessive inheritance0AK2 CL E G H204362OMIM:267500Reticular dysgenesia.19
HP:0000007HP:0000007Autosomal recessive inheritance0AK7 CL E G H12248120091OMIM:617965Spermatogenic failure 27.5
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1C2 CL E G H1646385OMIM:61427946,xy sex reversal 8.7
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1C4 CL E G H1109387OMIM:61427946,xy sex reversal 8.3
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0000007HP:0000007Autosomal recessive inheritance0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0000007HP:0000007Autosomal recessive inheritance0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH1A2 CL E G H885415472OMIM:620025
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8.10
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH4A1 CL E G H8659406OMIM:239510Hyperprolinemia, type II.74
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent.227
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0000007HP:0000007Autosomal recessive inheritance0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0000007HP:0000007Autosomal recessive inheritance0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0000007HP:0000007Autosomal recessive inheritance0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000007HP:0000007Autosomal recessive inheritance0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000007HP:0000007Autosomal recessive inheritance0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0000007HP:0000007Autosomal recessive inheritance0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii.46
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14.46
HP:0000007HP:0000007Autosomal recessive inheritance0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000007HP:0000007Autosomal recessive inheritance0ALG6 CL E G H2992923157OMIM:603147Congenital disorder of glycosylation, type Ic.66
HP:0000007HP:0000007Autosomal recessive inheritance0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000007HP:0000007Autosomal recessive inheritance0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000007HP:0000007Autosomal recessive inheritance0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000007HP:0000007Autosomal recessive inheritance0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3.63
HP:0000007HP:0000007Autosomal recessive inheritance0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 27.89
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0000007HP:0000007Autosomal recessive inheritance0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0000007HP:0000007Autosomal recessive inheritance0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000007HP:0000007Autosomal recessive inheritance0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 4.44
HP:0000007HP:0000007Autosomal recessive inheritance0AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0000007HP:0000007Autosomal recessive inheritance0AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0000007HP:0000007Autosomal recessive inheritance0AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0000007HP:0000007Autosomal recessive inheritance0AMN CL E G H8169314604OMIM:618882IMERSLUND-GRASBECK SYNDROME 2; IGS225
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive.21
HP:0000007HP:0000007Autosomal recessive inheritance0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0000007HP:0000007Autosomal recessive inheritance0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000007HP:0000007Autosomal recessive inheritance0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000007HP:0000007Autosomal recessive inheritance0ANGPTL3 CL E G H27329491OMIM:605019HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL27
HP:0000007HP:0000007Autosomal recessive inheritance0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1.150
HP:0000007HP:0000007Autosomal recessive inheritance0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0000007HP:0000007Autosomal recessive inheritance0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000007HP:0000007Autosomal recessive inheritance0ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 16.32
HP:0000007HP:0000007Autosomal recessive inheritance0ANO1 CL E G H5510721625OMIM:620045
HP:0000007HP:0000007Autosomal recessive inheritance0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0000007HP:0000007Autosomal recessive inheritance0ANO6 CL E G H19652725240OMIM:262890Scott syndrome.12
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome.49
HP:0000007HP:0000007Autosomal recessive inheritance0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0000007HP:0000007Autosomal recessive inheritance0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0000007HP:0000007Autosomal recessive inheritance0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000007HP:0000007Autosomal recessive inheritance0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0000007HP:0000007Autosomal recessive inheritance0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0000007HP:0000007Autosomal recessive inheritance0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0000007HP:0000007Autosomal recessive inheritance0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000007HP:0000007Autosomal recessive inheritance0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000007HP:0000007Autosomal recessive inheritance0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000007HP:0000007Autosomal recessive inheritance0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0000007HP:0000007Autosomal recessive inheritance0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0000007HP:0000007Autosomal recessive inheritance0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 3.1
HP:0000007HP:0000007Autosomal recessive inheritance0APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0000007HP:0000007Autosomal recessive inheritance0APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0000007HP:0000007Autosomal recessive inheritance0APOB CL E G H338603OMIM:615558Hypobetalipoproteinemia, familial, 1.356
HP:0000007HP:0000007Autosomal recessive inheritance0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0000007HP:0000007Autosomal recessive inheritance0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0000007HP:0000007Autosomal recessive inheritance0APRT CL E G H353626OMIM:614723Adenine phosphoribosyltransferase deficiency.19
HP:0000007HP:0000007Autosomal recessive inheritance0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0000007HP:0000007Autosomal recessive inheritance0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0000007HP:0000007Autosomal recessive inheritance0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive179
HP:0000007HP:0000007Autosomal recessive inheritance0ARG1 CL E G H383663OMIM:207800Argininemia.31
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGDIA CL E G H396678OMIM:615244Nephrotic syndrome, type 8.3
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGEF1 CL E G H9138681OMIM:618459Immunodeficiency 62.
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGEF18 CL E G H2337017090OMIM:617433Retinitis pigmentosa 78.6
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000007HP:0000007Autosomal recessive inheritance0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0000007HP:0000007Autosomal recessive inheritance0ARL2BP CL E G H2356817146OMIM:615434Retinitis pigmentosa with or without situs inversus.3
HP:0000007HP:0000007Autosomal recessive inheritance0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H8410013210OMIM:268000Retinitis pigmentosa.29
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H8410013210OMIM:613575RETINITIS PIGMENTOSA 55; RP5529
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive.1
HP:0000007HP:0000007Autosomal recessive inheritance0ARMC2 CL E G H8407123045OMIM:618433SPERMATOGENIC FAILURE 38; SPGF38
HP:0000007HP:0000007Autosomal recessive inheritance0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0000007HP:0000007Autosomal recessive inheritance0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0000007HP:0000007Autosomal recessive inheritance0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.
HP:0000007HP:0000007Autosomal recessive inheritance0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0000007HP:0000007Autosomal recessive inheritance0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0000007HP:0000007Autosomal recessive inheritance0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000007HP:0000007Autosomal recessive inheritance0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000007HP:0000007Autosomal recessive inheritance0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0000007HP:0000007Autosomal recessive inheritance0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0000007HP:0000007Autosomal recessive inheritance0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0000007HP:0000007Autosomal recessive inheritance0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0000007HP:0000007Autosomal recessive inheritance0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0000007HP:0000007Autosomal recessive inheritance0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.4
HP:0000007HP:0000007Autosomal recessive inheritance0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0000007HP:0000007Autosomal recessive inheritance0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0000007HP:0000007Autosomal recessive inheritance0ASTL CL E G H43170531704OMIM:619643OOCYTE MATURATION DEFECT 11; OOMD11
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000007HP:0000007Autosomal recessive inheritance0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0000007HP:0000007Autosomal recessive inheritance0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000007HP:0000007Autosomal recessive inheritance0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 25.1
HP:0000007HP:0000007Autosomal recessive inheritance0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000007HP:0000007Autosomal recessive inheritance0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0000007HP:0000007Autosomal recessive inheritance0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000007HP:0000007Autosomal recessive inheritance0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0000007HP:0000007Autosomal recessive inheritance0ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0000007HP:0000007Autosomal recessive inheritance0ATP2B2 CL E G H491815OMIM:601386Deafness, autosomal recessive 12.5
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4.
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1B1 CL E G H525853OMIM:267300Renal tubular acidosis, distal, with progressive nerve deafness.67
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000007HP:0000007Autosomal recessive inheritance0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H52053706OMIM:243300Cholestasis, benign recurrent intrahepatic 1.144
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0000007HP:0000007Autosomal recessive inheritance0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0000007HP:0000007Autosomal recessive inheritance0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000007HP:0000007Autosomal recessive inheritance0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0000007HP:0000007Autosomal recessive inheritance0AURKC CL E G H679511391OMIM:243060Male infertility with large-headed, multiflagellar, polyploid spermatozoa.12
HP:0000007HP:0000007Autosomal recessive inheritance0AVIL CL E G H1067714188OMIM:618594NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000007HP:0000007Autosomal recessive inheritance0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000007HP:0000007Autosomal recessive inheritance0B2M CL E G H567914OMIM:241600Immunodeficiency 43.8
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0000007HP:0000007Autosomal recessive inheritance0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000007HP:0000007Autosomal recessive inheritance0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID.85
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000007HP:0000007Autosomal recessive inheritance0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 9.28
HP:0000007HP:0000007Autosomal recessive inheritance0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0000007HP:0000007Autosomal recessive inheritance0BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0000007HP:0000007Autosomal recessive inheritance0BAG5 CL E G H9529941OMIM:619747CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0000007HP:0000007Autosomal recessive inheritance0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0000007HP:0000007Autosomal recessive inheritance0BBIP1 CL E G H9248228093OMIM:615995Bardet-Biedl syndrome 18.1
HP:0000007HP:0000007Autosomal recessive inheritance0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000007HP:0000007Autosomal recessive inheritance0BBS10 CL E G H7973826291OMIM:615987Bardet-Biedl syndrome 10.118
HP:0000007HP:0000007Autosomal recessive inheritance0BBS12 CL E G H16637926648OMIM:615989Bardet-Biedl syndrome 12.71
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583967OMIM:616562Retinitis pigmentosa 74.97
HP:0000007HP:0000007Autosomal recessive inheritance0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 487
HP:0000007HP:0000007Autosomal recessive inheritance0BBS5 CL E G H129880970OMIM:615983Bardet-Biedl syndrome 525
HP:0000007HP:0000007Autosomal recessive inheritance0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0000007HP:0000007Autosomal recessive inheritance0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000007HP:0000007Autosomal recessive inheritance0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000007HP:0000007Autosomal recessive inheritance0BCAT2 CL E G H587977OMIM:618850HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0000007HP:0000007Autosomal recessive inheritance0BCHE CL E G H590983OMIM:617936BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED67
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0000007HP:0000007Autosomal recessive inheritance0BCL10 CL E G H8915989OMIM:616098IMMUNODEFICIENCY 37; IMD3718
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome.72
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H6171020OMIM:603358GRACILE SYNDROME72
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0000007HP:0000007Autosomal recessive inheritance0BDP1 CL E G H5581413652OMIM:618257Deafness, autosomal recessive 112.2
HP:0000007HP:0000007Autosomal recessive inheritance0BEST1 CL E G H743912703OMIM:611809BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB182
HP:0000007HP:0000007Autosomal recessive inheritance0BFSP1 CL E G H6311040OMIM:611391Cataract 33, multiple types.15
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H72785735126OMIM:607539Camptosynpolydactyly, complex.4
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0000007HP:0000007Autosomal recessive inheritance0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0000007HP:0000007Autosomal recessive inheritance0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000007HP:0000007Autosomal recessive inheritance0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive.4
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 9.35
HP:0000007HP:0000007Autosomal recessive inheritance0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000007HP:0000007Autosomal recessive inheritance0BLVRA CL E G H6441062OMIM:614156Hyperbiliverdinemia.2
HP:0000007HP:0000007Autosomal recessive inheritance0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIII.49
HP:0000007HP:0000007Autosomal recessive inheritance0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0000007HP:0000007Autosomal recessive inheritance0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0000007HP:0000007Autosomal recessive inheritance0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0000007HP:0000007Autosomal recessive inheritance0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0000007HP:0000007Autosomal recessive inheritance0BPGM CL E G H6691093OMIM:222800Erythrocytosis, familial, 8.2
HP:0000007HP:0000007Autosomal recessive inheritance0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type.
HP:0000007HP:0000007Autosomal recessive inheritance0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000007HP:0000007Autosomal recessive inheritance0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA2 CL E G H6751101OMIM:613029Glioma susceptibility 3.7642
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA2 CL E G H6751101OMIM:155255MEDULLOBLASTOMA.7642
HP:0000007HP:0000007Autosomal recessive inheritance0BRDT CL E G H6761105OMIM:617644Spermatogenic failure 21.1
HP:0000007HP:0000007Autosomal recessive inheritance0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0000007HP:0000007Autosomal recessive inheritance0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000007HP:0000007Autosomal recessive inheritance0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0000007HP:0000007Autosomal recessive inheritance0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0000007HP:0000007Autosomal recessive inheritance0BTG4 CL E G H5476613862OMIM:619009OOCYTE MATURATION DEFECT 8; OOMD8
HP:0000007HP:0000007Autosomal recessive inheritance0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000007HP:0000007Autosomal recessive inheritance0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0000007HP:0000007Autosomal recessive inheritance0C11ORF80 CL E G H7970326197OMIM:618432HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0000007HP:0000007Autosomal recessive inheritance0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000007HP:0000007Autosomal recessive inheritance0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000007HP:0000007Autosomal recessive inheritance0C14ORF39 CL E G H31776119849OMIM:619203PREMATURE OVARIAN FAILURE 18; POF18
HP:0000007HP:0000007Autosomal recessive inheritance0C14ORF39 CL E G H31776119849OMIM:619202SPERMATOGENIC FAILURE 52; SPGF52
HP:0000007HP:0000007Autosomal recessive inheritance0C18ORF32 CL E G H49766131690OMIM:619985
HP:0000007HP:0000007Autosomal recessive inheritance0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000007HP:0000007Autosomal recessive inheritance0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0000007HP:0000007Autosomal recessive inheritance0C1QA CL E G H7121241OMIM:613652C1q deficiency.1
HP:0000007HP:0000007Autosomal recessive inheritance0C1QB CL E G H7131242OMIM:613652C1q deficiency.2
HP:0000007HP:0000007Autosomal recessive inheritance0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000007HP:0000007Autosomal recessive inheritance0C1QC CL E G H7141245OMIM:613652C1q deficiency.3
HP:0000007HP:0000007Autosomal recessive inheritance0C2 CL E G H7171248OMIM:217000Complement component 2 deficiency.23
HP:0000007HP:0000007Autosomal recessive inheritance0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000007HP:0000007Autosomal recessive inheritance0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0000007HP:0000007Autosomal recessive inheritance0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive.92
HP:0000007HP:0000007Autosomal recessive inheritance0C4A CL E G H7201323OMIM:614380Complement component 4A deficiency.1
HP:0000007HP:0000007Autosomal recessive inheritance0C5 CL E G H7271331OMIM:609536C5 deficiency16
HP:0000007HP:0000007Autosomal recessive inheritance0C6 CL E G H7291339OMIM:612446COMPLEMENT COMPONENT 6 DEFICIENCY; C6D12
HP:0000007HP:0000007Autosomal recessive inheritance0C7 CL E G H7301346OMIM:610102COMPLEMENT COMPONENT 7 DEFICIENCY; C7D14
HP:0000007HP:0000007Autosomal recessive inheritance0C8A CL E G H7311352OMIM:613790Complement component 8 deficiency, type I.9
HP:0000007HP:0000007Autosomal recessive inheritance0C8B CL E G H7321353OMIM:613789Complement component 8 deficiency, type II.7
HP:0000007HP:0000007Autosomal recessive inheritance0CA12 CL E G H7711371OMIM:143860Hyperchlorhidrosis, isolated.4
HP:0000007HP:0000007Autosomal recessive inheritance0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0000007HP:0000007Autosomal recessive inheritance0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency.10
HP:0000007HP:0000007Autosomal recessive inheritance0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0000007HP:0000007Autosomal recessive inheritance0CABP2 CL E G H514751385OMIM:614899Deafness, autosomal recessive 93.2
HP:0000007HP:0000007Autosomal recessive inheritance0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA1D CL E G H7761391OMIM:614896Sinoatrial node dysfunction and deafness.51
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0000007HP:0000007Autosomal recessive inheritance0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0000007HP:0000007Autosomal recessive inheritance0CALCRL CL E G H1020316709OMIM:618773LYMPHATIC MALFORMATION 8; LMPHM83
HP:0000007HP:0000007Autosomal recessive inheritance0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 63.1
HP:0000007HP:0000007Autosomal recessive inheritance0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0000007HP:0000007Autosomal recessive inheritance0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0000007HP:0000007Autosomal recessive inheritance0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0000007HP:0000007Autosomal recessive inheritance0CARD11 CL E G H8443316393OMIM:615206Card11 immunodeficiency.45
HP:0000007HP:0000007Autosomal recessive inheritance0CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0000007HP:0000007Autosomal recessive inheritance0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000007HP:0000007Autosomal recessive inheritance0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000007HP:0000007Autosomal recessive inheritance0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0000007HP:0000007Autosomal recessive inheritance0CARTPT CL E G H960724323OMIM:601665OBESITY.1
HP:0000007HP:0000007Autosomal recessive inheritance0CASP14 CL E G H235811502OMIM:617320ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI121
HP:0000007HP:0000007Autosomal recessive inheritance0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0000007HP:0000007Autosomal recessive inheritance0CASQ2 CL E G H8451513OMIM:611938Ventricular tachycardia, catecholaminergic polymorphic, 2.129
HP:0000007HP:0000007Autosomal recessive inheritance0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0000007HP:0000007Autosomal recessive inheritance0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0000007HP:0000007Autosomal recessive inheritance0CAT CL E G H8471516OMIM:614097Acatalasemia5
HP:0000007HP:0000007Autosomal recessive inheritance0CATIP CL E G H37530725062OMIM:619379SPERMATOGENIC FAILURE 54; SPGF54
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER1 CL E G H11714417116OMIM:612997Spermatogenic failure 7.45
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H11715518810OMIM:611102Deafness, sensorineural, and male infertility.12
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H11715518810OMIM:612997Spermatogenic failure 7.12
HP:0000007HP:0000007Autosomal recessive inheritance0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0000007HP:0000007Autosomal recessive inheritance0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0000007HP:0000007Autosomal recessive inheritance0CBLIF CL E G H26944268OMIM:261000Intrinsic factor deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0000007HP:0000007Autosomal recessive inheritance0CBX2 CL E G H847331552OMIM:61308046XY sex reversal 5.3
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6.247
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H5754529253OMIM:619845RETINITIS PIGMENTOSA 93; RP93247
HP:0000007HP:0000007Autosomal recessive inheritance0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC103 CL E G H38838932700OMIM:614679Ciliary dyskinesia, primary, 17.36
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC34 CL E G H9105725079OMIM:620084
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC62 CL E G H8466030723OMIM:619803SPERMATOGENIC FAILURE 67; SPGF67
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 27.23
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC88C CL E G H44019319967OMIM:236600Hydrocephalus, nonsyndromic, autosomal recessive 1.54
HP:0000007HP:0000007Autosomal recessive inheritance0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0000007HP:0000007Autosomal recessive inheritance0CCNO CL E G H1030918576OMIM:615872Ciliary dyskinesia, primary, 2923
HP:0000007HP:0000007Autosomal recessive inheritance0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0000007HP:0000007Autosomal recessive inheritance0CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0000007HP:0000007Autosomal recessive inheritance0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0000007HP:0000007Autosomal recessive inheritance0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0000007HP:0000007Autosomal recessive inheritance0CD320 CL E G H5129316692OMIM:613646METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT16
HP:0000007HP:0000007Autosomal recessive inheritance0CD36 CL E G H9481663OMIM:608404Platelet glycoprotein IV deficiency53
HP:0000007HP:0000007Autosomal recessive inheritance0CD3D CL E G H9151673OMIM:615617Immunodeficiency 19.18
HP:0000007HP:0000007Autosomal recessive inheritance0CD3E CL E G H9161674OMIM:615615Immunodeficiency 18.24
HP:0000007HP:0000007Autosomal recessive inheritance0CD3G CL E G H9171675OMIM:615607Immunodeficiency 17.19
HP:0000007HP:0000007Autosomal recessive inheritance0CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0000007HP:0000007Autosomal recessive inheritance0CD40 CL E G H95811919OMIM:606843Immunodeficiency with hyper-igm, type 3.27
HP:0000007HP:0000007Autosomal recessive inheritance0CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 2.39
HP:0000007HP:0000007Autosomal recessive inheritance0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0000007HP:0000007Autosomal recessive inheritance0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy3
HP:0000007HP:0000007Autosomal recessive inheritance0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0000007HP:0000007Autosomal recessive inheritance0CD79A CL E G H9731698OMIM:613501Agammaglobulinemia 3, autosomal recessive.9
HP:0000007HP:0000007Autosomal recessive inheritance0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0000007HP:0000007Autosomal recessive inheritance0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0000007HP:0000007Autosomal recessive inheritance0CD8A CL E G H9251706OMIM:608957Cd8 deficiency, familial.4
HP:0000007HP:0000007Autosomal recessive inheritance0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0000007HP:0000007Autosomal recessive inheritance0CDC14A CL E G H85561718OMIM:608653Deafness, autosomal recessive 32, with or without immotile sperm.2
HP:0000007HP:0000007Autosomal recessive inheritance0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0000007HP:0000007Autosomal recessive inheritance0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000007HP:0000007Autosomal recessive inheritance0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0000007HP:0000007Autosomal recessive inheritance0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000007HP:0000007Autosomal recessive inheritance0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0CDH2 CL E G H10001759OMIM:619957
HP:0000007HP:0000007Autosomal recessive inheritance0CDH23 CL E G H6407213733OMIM:601386Deafness, autosomal recessive 12.636
HP:0000007HP:0000007Autosomal recessive inheritance0CDH23 CL E G H6407213733OMIM:601067Usher syndrome, type ID.636
HP:0000007HP:0000007Autosomal recessive inheritance0CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.87
HP:0000007HP:0000007Autosomal recessive inheritance0CDH3 CL E G H10011762OMIM:601553Hypotrichosis, congenital, with juvenile macular dystrophy.87
HP:0000007HP:0000007Autosomal recessive inheritance0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0000007HP:0000007Autosomal recessive inheritance0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0000007HP:0000007Autosomal recessive inheritance0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000007HP:0000007Autosomal recessive inheritance0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0000007HP:0000007Autosomal recessive inheritance0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive.181
HP:0000007HP:0000007Autosomal recessive inheritance0CDK6 CL E G H10211777OMIM:616080Microcephaly 12, primary, autosomal recessive.6
HP:0000007HP:0000007Autosomal recessive inheritance0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 1.7
HP:0000007HP:0000007Autosomal recessive inheritance0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0000007HP:0000007Autosomal recessive inheritance0CEACAM16 CL E G H38855131948OMIM:618410DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB11330
HP:0000007HP:0000007Autosomal recessive inheritance0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain.3
HP:0000007HP:0000007Autosomal recessive inheritance0CEBPE CL E G H10531836OMIM:245480Specific granule deficiency3
HP:0000007HP:0000007Autosomal recessive inheritance0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0000007HP:0000007Autosomal recessive inheritance0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0000007HP:0000007Autosomal recessive inheritance0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6.161
HP:0000007HP:0000007Autosomal recessive inheritance0CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4.161
HP:0000007HP:0000007Autosomal recessive inheritance0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000007HP:0000007Autosomal recessive inheritance0CEP104 CL E G H973124866OMIM:6199885
HP:0000007HP:0000007Autosomal recessive inheritance0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0000007HP:0000007Autosomal recessive inheritance0CEP112 CL E G H20113428514OMIM:619044SPERMATOGENIC FAILURE 44; SPGF441
HP:0000007HP:0000007Autosomal recessive inheritance0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0000007HP:0000007Autosomal recessive inheritance0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000007HP:0000007Autosomal recessive inheritance0CEP135 CL E G H966229086OMIM:614673Microcephaly 8, primary, autosomal recessive.38
HP:0000007HP:0000007Autosomal recessive inheritance0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive.146
HP:0000007HP:0000007Autosomal recessive inheritance0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0000007HP:0000007Autosomal recessive inheritance0CEP164 CL E G H2289729182OMIM:614845Nephronophthisis 15.34
HP:0000007HP:0000007Autosomal recessive inheritance0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0000007HP:0000007Autosomal recessive inheritance0CEP250 CL E G H111901859OMIM:618358CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H8018429021OMIM:615991Bardet-Biedl syndrome 14.342
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H8018429021OMIM:611755Leber congenital amaurosis 10342
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H8018429021OMIM:610189Senior-Loken syndrome 6.342
HP:0000007HP:0000007Autosomal recessive inheritance0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0000007HP:0000007Autosomal recessive inheritance0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000007HP:0000007Autosomal recessive inheritance0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000007HP:0000007Autosomal recessive inheritance0CEP63 CL E G H8025425815OMIM:614728Seckel syndrome 6.31
HP:0000007HP:0000007Autosomal recessive inheritance0CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0000007HP:0000007Autosomal recessive inheritance0CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 18.10
HP:0000007HP:0000007Autosomal recessive inheritance0CERKL CL E G H37529821699OMIM:608380Retinitis pigmentosa 2671
HP:0000007HP:0000007Autosomal recessive inheritance0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 8.1
HP:0000007HP:0000007Autosomal recessive inheritance0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 9.5
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP251 CL E G H14440628506OMIM:618152Spermatogenic failure 33.
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38.
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP410 CL E G H7551260OMIM:617547Retinal dystrophy with or without macular staphyloma.
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP418 CL E G H15765727232OMIM:268000Retinitis pigmentosa.
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP43 CL E G H8021726684OMIM:617592Spermatogenic failure 19.6
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP44 CL E G H5577925631OMIM:617593Spermatogenic failure 20.1
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP52 CL E G H14684516053OMIM:619607HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP53 CL E G H22013626530OMIM:614779Heterotaxy, visceral, 6, autosomal.17
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP58 CL E G H15968626676OMIM:619144SPERMATOGENIC FAILURE 49; SPGF49
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP65 CL E G H25510125325OMIM:618664SPERMATOGENIC FAILURE 40; SPGF401
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP69 CL E G H7984626107OMIM:617959SPERMATOGENIC FAILURE 24; SPGF24
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP70 CL E G H11849130726OMIM:618670SPERMATOGENIC FAILURE 41; SPGF41
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP91 CL E G H8987624010OMIM:619177SPERMATOGENIC FAILURE 51; SPGF51
HP:0000007HP:0000007Autosomal recessive inheritance0CFB CL E G H6291037OMIM:615561COMPLEMENT FACTOR B DEFICIENCY; CFBD30
HP:0000007HP:0000007Autosomal recessive inheritance0CFD CL E G H16752771OMIM:613912Complement factor D deficiency.4
HP:0000007HP:0000007Autosomal recessive inheritance0CFH CL E G H30754883OMIM:609814Complement factor H deficiency.86
HP:0000007HP:0000007Autosomal recessive inheritance0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0000007HP:0000007Autosomal recessive inheritance0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000007HP:0000007Autosomal recessive inheritance0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000007HP:0000007Autosomal recessive inheritance0CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0000007HP:0000007Autosomal recessive inheritance0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0000007HP:0000007Autosomal recessive inheritance0CFTR CL E G H10801884OMIM:219700Cystic fibrosis.1371
HP:0000007HP:0000007Autosomal recessive inheritance0CFTR CL E G H10801884OMIM:277180Vas deferens, congenital bilateral aplasia of.1371
HP:0000007HP:0000007Autosomal recessive inheritance0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0000007HP:0000007Autosomal recessive inheritance0CHKA CL E G H11191937OMIM:620023
HP:0000007HP:0000007Autosomal recessive inheritance0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0000007HP:0000007Autosomal recessive inheritance0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000007HP:0000007Autosomal recessive inheritance0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNB1 CL E G H11401961OMIM:616314Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.53
HP:0000007HP:0000007Autosomal recessive inheritance0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0000007HP:0000007Autosomal recessive inheritance0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0000007HP:0000007Autosomal recessive inheritance0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0000007HP:0000007Autosomal recessive inheritance0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0000007HP:0000007Autosomal recessive inheritance0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000007HP:0000007Autosomal recessive inheritance0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000007HP:0000007Autosomal recessive inheritance0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0000007HP:0000007Autosomal recessive inheritance0CHST6 CL E G H41666938OMIM:217800Macular dystrophy, corneal, 1.129
HP:0000007HP:0000007Autosomal recessive inheritance0CHST8 CL E G H6437715993OMIM:616265Peeling skin syndrome 3.1
HP:0000007HP:0000007Autosomal recessive inheritance0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0000007HP:0000007Autosomal recessive inheritance0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000007HP:0000007Autosomal recessive inheritance0CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0000007HP:0000007Autosomal recessive inheritance0CIB1 CL E G H1051916920OMIM:618267Epidermodysplasia verruciformis, susceptibility to, 3.
HP:0000007HP:0000007Autosomal recessive inheritance0CIB2 CL E G H1051824579OMIM:609439Deafness, autosomal recessive 48.15
HP:0000007HP:0000007Autosomal recessive inheritance0CIB2 CL E G H1051824579OMIM:614869Usher syndrome, type IJ.15
HP:0000007HP:0000007Autosomal recessive inheritance0CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0000007HP:0000007Autosomal recessive inheritance0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 5.8
HP:0000007HP:0000007Autosomal recessive inheritance0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0000007HP:0000007Autosomal recessive inheritance0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000007HP:0000007Autosomal recessive inheritance0CIROP CL E G H10012890853647OMIM:619702HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0000007HP:0000007Autosomal recessive inheritance0CISD2 CL E G H49385624212OMIM:604928Wolfram syndrome 23
HP:0000007HP:0000007Autosomal recessive inheritance0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0000007HP:0000007Autosomal recessive inheritance0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000007HP:0000007Autosomal recessive inheritance0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0000007HP:0000007Autosomal recessive inheritance0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive.133
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia.44
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0000007HP:0000007Autosomal recessive inheritance0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN14 CL E G H235622035OMIM:614035Deafness, autosomal recessive 2957
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN9 CL E G H90802051OMIM:619093DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000007HP:0000007Autosomal recessive inheritance0CLEC7A CL E G H6458114558OMIM:613108CANDIDIASIS, FAMILIAL, 4; CANDF43
HP:0000007HP:0000007Autosomal recessive inheritance0CLIC5 CL E G H5340513517OMIM:616042Deafness, autosomal recessive 103.1
HP:0000007HP:0000007Autosomal recessive inheritance0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome.7
HP:0000007HP:0000007Autosomal recessive inheritance0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000007HP:0000007Autosomal recessive inheritance0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0000007HP:0000007Autosomal recessive inheritance0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0000007HP:0000007Autosomal recessive inheritance0CLN6 CL E G H549822077OMIM:601780Ceroid lipofuscinosis, neuronal, 6.143
HP:0000007HP:0000007Autosomal recessive inheritance0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0000007HP:0000007Autosomal recessive inheritance0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0000007HP:0000007Autosomal recessive inheritance0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000007HP:0000007Autosomal recessive inheritance0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0000007HP:0000007Autosomal recessive inheritance0CLPP CL E G H81922084OMIM:614129Perrault syndrome 3.13
HP:0000007HP:0000007Autosomal recessive inheritance0CLRN1 CL E G H740112605OMIM:268000Retinitis pigmentosa.60
HP:0000007HP:0000007Autosomal recessive inheritance0CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0000007HP:0000007Autosomal recessive inheritance0CLRN1 CL E G H740112605OMIM:276902Usher syndrome, type IIIA.60
HP:0000007HP:0000007Autosomal recessive inheritance0CLRN2 CL E G H64510433939OMIM:619174DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000007HP:0000007Autosomal recessive inheritance0CNGA1 CL E G H12592148OMIM:268000Retinitis pigmentosa.44
HP:0000007HP:0000007Autosomal recessive inheritance0CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0000007HP:0000007Autosomal recessive inheritance0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 2.82
HP:0000007HP:0000007Autosomal recessive inheritance0CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45.164
HP:0000007HP:0000007Autosomal recessive inheritance0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000007HP:0000007Autosomal recessive inheritance0CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation.47
HP:0000007HP:0000007Autosomal recessive inheritance0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome.61
HP:0000007HP:0000007Autosomal recessive inheritance0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000007HP:0000007Autosomal recessive inheritance0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60.
HP:0000007HP:0000007Autosomal recessive inheritance0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0000007HP:0000007Autosomal recessive inheritance0CNTN2 CL E G H69002172OMIM:615400Epilepsy, familial adult myoclonic, 5.9
HP:0000007HP:0000007Autosomal recessive inheritance0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0000007HP:0000007Autosomal recessive inheritance0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000007HP:0000007Autosomal recessive inheritance0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0000007HP:0000007Autosomal recessive inheritance0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0000007HP:0000007Autosomal recessive inheritance0COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3.2
HP:0000007HP:0000007Autosomal recessive inheritance0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0000007HP:0000007Autosomal recessive inheritance0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0000007HP:0000007Autosomal recessive inheritance0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0000007HP:0000007Autosomal recessive inheritance0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0000007HP:0000007Autosomal recessive inheritance0COASY CL E G H8034729932OMIM:618266Pontocerebellar hypoplasia, type 12.16
HP:0000007HP:0000007Autosomal recessive inheritance0COCH CL E G H16902180OMIM:618094Deafness, autosomal recessive 110.46
HP:0000007HP:0000007Autosomal recessive inheritance0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000007HP:0000007Autosomal recessive inheritance0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0000007HP:0000007Autosomal recessive inheritance0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0000007HP:0000007Autosomal recessive inheritance0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0000007HP:0000007Autosomal recessive inheritance0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000007HP:0000007Autosomal recessive inheritance0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0000007HP:0000007Autosomal recessive inheritance0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0000007HP:0000007Autosomal recessive inheritance0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A2 CL E G H13022187OMIM:609706Deafness, autosomal recessive 53.222
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0000007HP:0000007Autosomal recessive inheritance0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0000007HP:0000007Autosomal recessive inheritance0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0000007HP:0000007Autosomal recessive inheritance0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000007HP:0000007Autosomal recessive inheritance0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0000007HP:0000007Autosomal recessive inheritance0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0000007HP:0000007Autosomal recessive inheritance0COL25A1 CL E G H8457018603OMIM:616219Fibrosis of extraocular muscles, congenital, 5.3
HP:0000007HP:0000007Autosomal recessive inheritance0COL27A1 CL E G H8530122986OMIM:615155Steel syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000007HP:0000007Autosomal recessive inheritance0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0000007HP:0000007Autosomal recessive inheritance0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H12942214OMIM:131850Epidermolysis bullosa dystrophica, pretibial.263
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H12942214OMIM:604129Epidermolysis bullosa pruriginosa.263
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0000007HP:0000007Autosomal recessive inheritance0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0000007HP:0000007Autosomal recessive inheritance0COL9A2 CL E G H12982218OMIM:614284Stickler syndrome, type V.110
HP:0000007HP:0000007Autosomal recessive inheritance0COL9A3 CL E G H12992219OMIM:620022137
HP:0000007HP:0000007Autosomal recessive inheritance0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000007HP:0000007Autosomal recessive inheritance0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000007HP:0000007Autosomal recessive inheritance0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0000007HP:0000007Autosomal recessive inheritance0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0000007HP:0000007Autosomal recessive inheritance0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000007HP:0000007Autosomal recessive inheritance0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0000007HP:0000007Autosomal recessive inheritance0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0000007HP:0000007Autosomal recessive inheritance0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 7.24
HP:0000007HP:0000007Autosomal recessive inheritance0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000007HP:0000007Autosomal recessive inheritance0COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 6.39
HP:0000007HP:0000007Autosomal recessive inheritance0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0000007HP:0000007Autosomal recessive inheritance0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0000007HP:0000007Autosomal recessive inheritance0COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 9.35
HP:0000007HP:0000007Autosomal recessive inheritance0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0000007HP:0000007Autosomal recessive inheritance0CORO1A CL E G H111512252OMIM:615401Immunodeficiency 8.7
HP:0000007HP:0000007Autosomal recessive inheritance0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0000007HP:0000007Autosomal recessive inheritance0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0000007HP:0000007Autosomal recessive inheritance0COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6.104
HP:0000007HP:0000007Autosomal recessive inheritance0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000007HP:0000007Autosomal recessive inheritance0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0000007HP:0000007Autosomal recessive inheritance0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000007HP:0000007Autosomal recessive inheritance0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0000007HP:0000007Autosomal recessive inheritance0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000007HP:0000007Autosomal recessive inheritance0COX6A1 CL E G H13372277OMIM:616039Charcot-Marie-Tooth disease, recessive intermediate D.4
HP:0000007HP:0000007Autosomal recessive inheritance0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000007HP:0000007Autosomal recessive inheritance0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0000007HP:0000007Autosomal recessive inheritance0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0000007HP:0000007Autosomal recessive inheritance0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0000007HP:0000007Autosomal recessive inheritance0CPA6 CL E G H5709417245OMIM:614417Epilepsy, familial temporal lobe, 549
HP:0000007HP:0000007Autosomal recessive inheritance0CPA6 CL E G H5709417245OMIM:614418FEBRILE SEIZURES, FAMILIAL, 11; FEB1149
HP:0000007HP:0000007Autosomal recessive inheritance0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0000007HP:0000007Autosomal recessive inheritance0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000007HP:0000007Autosomal recessive inheritance0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17.
HP:0000007HP:0000007Autosomal recessive inheritance0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000007HP:0000007Autosomal recessive inheritance0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0000007HP:0000007Autosomal recessive inheritance0CPN1 CL E G H13692312OMIM:212070Carboxypeptidase N deficiency.2
HP:0000007HP:0000007Autosomal recessive inheritance0CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0000007HP:0000007Autosomal recessive inheritance0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0000007HP:0000007Autosomal recessive inheritance0CPSF3 CL E G H516922326OMIM:619876
HP:0000007HP:0000007Autosomal recessive inheritance0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H13762330OMIM:255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced.101
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H13762330OMIM:614212Encephalopathy, acute, infection-induced, susceptibility to, 4.101
HP:0000007HP:0000007Autosomal recessive inheritance0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0000007HP:0000007Autosomal recessive inheritance0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0000007HP:0000007Autosomal recessive inheritance0CRADD CL E G H87382340OMIM:614499Mental retardation, autosomal recessive 34, with variant lissencephaly.6
HP:0000007HP:0000007Autosomal recessive inheritance0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0000007HP:0000007Autosomal recessive inheritance0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8.156
HP:0000007HP:0000007Autosomal recessive inheritance0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12.156
HP:0000007HP:0000007Autosomal recessive inheritance0CRB2 CL E G H28620418688OMIM:616220Focal segmental glomerulosclerosis 9.12
HP:0000007HP:0000007Autosomal recessive inheritance0CRB2 CL E G H28620418688OMIM:219730Ventriculomegaly with cystic kidney disease.12
HP:0000007HP:0000007Autosomal recessive inheritance0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0000007HP:0000007Autosomal recessive inheritance0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI.4
HP:0000007HP:0000007Autosomal recessive inheritance0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000007HP:0000007Autosomal recessive inheritance0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000007HP:0000007Autosomal recessive inheritance0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0000007HP:0000007Autosomal recessive inheritance0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0000007HP:0000007Autosomal recessive inheritance0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0000007HP:0000007Autosomal recessive inheritance0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7.158
HP:0000007HP:0000007Autosomal recessive inheritance0CRX CL E G H14062383OMIM:268000Retinitis pigmentosa.158
HP:0000007HP:0000007Autosomal recessive inheritance0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types.33
HP:0000007HP:0000007Autosomal recessive inheritance0CRYAB CL E G H14102389OMIM:613763Cataract, posterior polar, 2.46
HP:0000007HP:0000007Autosomal recessive inheritance0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0000007HP:0000007Autosomal recessive inheritance0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple types.18
HP:0000007HP:0000007Autosomal recessive inheritance0CRYBB3 CL E G H14172400OMIM:609741Cataract 22, multiple types.22
HP:0000007HP:0000007Autosomal recessive inheritance0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0000007HP:0000007Autosomal recessive inheritance0CSF2RB CL E G H14392436OMIM:614370SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP517
HP:0000007HP:0000007Autosomal recessive inheritance0CSF3R CL E G H14412439OMIM:617014Neutropenia, severe congenital, 7, autosomal recessive.34
HP:0000007HP:0000007Autosomal recessive inheritance0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000007HP:0000007Autosomal recessive inheritance0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0000007HP:0000007Autosomal recessive inheritance0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0000007HP:0000007Autosomal recessive inheritance0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0000007HP:0000007Autosomal recessive inheritance0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0000007HP:0000007Autosomal recessive inheritance0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0000007HP:0000007Autosomal recessive inheritance0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000007HP:0000007Autosomal recessive inheritance0CTH CL E G H14912501OMIM:219500CYSTATHIONINURIA.38
HP:0000007HP:0000007Autosomal recessive inheritance0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0000007HP:0000007Autosomal recessive inheritance0CTNNB1 CL E G H14992514OMIM:155255MEDULLOBLASTOMA.88
HP:0000007HP:0000007Autosomal recessive inheritance0CTNNBL1 CL E G H5625915879OMIM:619846
HP:0000007HP:0000007Autosomal recessive inheritance0CTNS CL E G H14972518OMIM:219750Cystinosis, adult nonnephropathic.178
HP:0000007HP:0000007Autosomal recessive inheritance0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type.178
HP:0000007HP:0000007Autosomal recessive inheritance0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000007HP:0000007Autosomal recessive inheritance0CTPS1 CL E G H15032519OMIM:615897IMMUNODEFICIENCY 24; IMD242
HP:0000007HP:0000007Autosomal recessive inheritance0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0000007HP:0000007Autosomal recessive inheritance0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0000007HP:0000007Autosomal recessive inheritance0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.50
HP:0000007HP:0000007Autosomal recessive inheritance0CTSC CL E G H10752528OMIM:170650Periodontitis, aggressive, 1.50
HP:0000007HP:0000007Autosomal recessive inheritance0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0000007HP:0000007Autosomal recessive inheritance0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0000007HP:0000007Autosomal recessive inheritance0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000007HP:0000007Autosomal recessive inheritance0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0CUBN CL E G H80292548OMIM:261100Megaloblastic anemia 1.273
HP:0000007HP:0000007Autosomal recessive inheritance0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0000007HP:0000007Autosomal recessive inheritance0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000007HP:0000007Autosomal recessive inheritance0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0000007HP:0000007Autosomal recessive inheritance0CXCR2 CL E G H35796027OMIM:619407WHIM SYNDROME 2; WHIMS21
HP:0000007HP:0000007Autosomal recessive inheritance0CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2.
HP:0000007HP:0000007Autosomal recessive inheritance0CYB5A CL E G H15282570OMIM:250790Methemoglobinemia and ambiguous genitalia.2
HP:0000007HP:0000007Autosomal recessive inheritance0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0000007HP:0000007Autosomal recessive inheritance0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0000007HP:0000007Autosomal recessive inheritance0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0000007HP:0000007Autosomal recessive inheritance0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 6.12
HP:0000007HP:0000007Autosomal recessive inheritance0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000007HP:0000007Autosomal recessive inheritance0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0000007HP:0000007Autosomal recessive inheritance0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0000007HP:0000007Autosomal recessive inheritance0CYP17A1 CL E G H15862593OMIM:202110Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency.53
HP:0000007HP:0000007Autosomal recessive inheritance0CYP19A1 CL E G H15882594OMIM:613546Aromatase deficiency60
HP:0000007HP:0000007Autosomal recessive inheritance0CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0000007HP:0000007Autosomal recessive inheritance0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0000007HP:0000007Autosomal recessive inheritance0CYP1B1 CL E G H15452597OMIM:600975Glaucoma 3, primary infantile, B.101
HP:0000007HP:0000007Autosomal recessive inheritance0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0000007HP:0000007Autosomal recessive inheritance0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0000007HP:0000007Autosomal recessive inheritance0CYP26B1 CL E G H5660320581OMIM:614416RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA4
HP:0000007HP:0000007Autosomal recessive inheritance0CYP26C1 CL E G H34066520577OMIM:614974FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD42
HP:0000007HP:0000007Autosomal recessive inheritance0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0000007HP:0000007Autosomal recessive inheritance0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000007HP:0000007Autosomal recessive inheritance0CYP2D6 CL E G H15652625OMIM:608902Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included.19
HP:0000007HP:0000007Autosomal recessive inheritance0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0000007HP:0000007Autosomal recessive inheritance0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive.18
HP:0000007HP:0000007Autosomal recessive inheritance0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5.54
HP:0000007HP:0000007Autosomal recessive inheritance0CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy.126
HP:0000007HP:0000007Autosomal recessive inheritance0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0000007HP:0000007Autosomal recessive inheritance0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0000007HP:0000007Autosomal recessive inheritance0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0000007HP:0000007Autosomal recessive inheritance0DAAM2 CL E G H2350018143OMIM:619263NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000007HP:0000007Autosomal recessive inheritance0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0000007HP:0000007Autosomal recessive inheritance0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0000007HP:0000007Autosomal recessive inheritance0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000007HP:0000007Autosomal recessive inheritance0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000007HP:0000007Autosomal recessive inheritance0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0000007HP:0000007Autosomal recessive inheritance0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0000007HP:0000007Autosomal recessive inheritance0DBR1 CL E G H5116315594OMIM:619441ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0000007HP:0000007Autosomal recessive inheritance0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0000007HP:0000007Autosomal recessive inheritance0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000007HP:0000007Autosomal recessive inheritance0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0000007HP:0000007Autosomal recessive inheritance0DCDC2 CL E G H5147318141OMIM:610212Deafness, autosomal recessive 66.8
HP:0000007HP:0000007Autosomal recessive inheritance0DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 19.8
HP:0000007HP:0000007Autosomal recessive inheritance0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0000007HP:0000007Autosomal recessive inheritance0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000007HP:0000007Autosomal recessive inheritance0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0000007HP:0000007Autosomal recessive inheritance0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0000007HP:0000007Autosomal recessive inheritance0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000007HP:0000007Autosomal recessive inheritance0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0000007HP:0000007Autosomal recessive inheritance0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0000007HP:0000007Autosomal recessive inheritance0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0000007HP:0000007Autosomal recessive inheritance0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0000007HP:0000007Autosomal recessive inheritance0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0000007HP:0000007Autosomal recessive inheritance0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0000007HP:0000007Autosomal recessive inheritance0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0000007HP:0000007Autosomal recessive inheritance0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0000007HP:0000007Autosomal recessive inheritance0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000007HP:0000007Autosomal recessive inheritance0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0000007HP:0000007Autosomal recessive inheritance0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0000007HP:0000007Autosomal recessive inheritance0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0000007HP:0000007Autosomal recessive inheritance0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0000007HP:0000007Autosomal recessive inheritance0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000007HP:0000007Autosomal recessive inheritance0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0000007HP:0000007Autosomal recessive inheritance0DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type.9
HP:0000007HP:0000007Autosomal recessive inheritance0DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 7.17
HP:0000007HP:0000007Autosomal recessive inheritance0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0000007HP:0000007Autosomal recessive inheritance0DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic.57
HP:0000007HP:0000007Autosomal recessive inheritance0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0000007HP:0000007Autosomal recessive inheritance0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000007HP:0000007Autosomal recessive inheritance0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0000007HP:0000007Autosomal recessive inheritance0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0000007HP:0000007Autosomal recessive inheritance0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0000007HP:0000007Autosomal recessive inheritance0DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0000007HP:0000007Autosomal recessive inheritance0DHH CL E G H508462865OMIM:23342046,xy sex reversal 7.21
HP:0000007HP:0000007Autosomal recessive inheritance0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000007HP:0000007Autosomal recessive inheritance0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0000007HP:0000007Autosomal recessive inheritance0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0000007HP:0000007Autosomal recessive inheritance0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000007HP:0000007Autosomal recessive inheritance0DHX38 CL E G H978517211OMIM:618220Retinitis pigmentosa 84.1
HP:0000007HP:0000007Autosomal recessive inheritance0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome.118
HP:0000007HP:0000007Autosomal recessive inheritance0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0000007HP:0000007Autosomal recessive inheritance0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0000007HP:0000007Autosomal recessive inheritance0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency.89
HP:0000007HP:0000007Autosomal recessive inheritance0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0000007HP:0000007Autosomal recessive inheritance0DLX5 CL E G H17492918OMIM:220600Split-Hand/foot malformation 1 with sensorineural hearing loss.3
HP:0000007HP:0000007Autosomal recessive inheritance0DMGDH CL E G H2995824475OMIM:605850DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD27
HP:0000007HP:0000007Autosomal recessive inheritance0DMP1 CL E G H17582932OMIM:241520Hypophosphatemic rickets, autosomal recessive.48
HP:0000007HP:0000007Autosomal recessive inheritance0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0000007HP:0000007Autosomal recessive inheritance0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0000007HP:0000007Autosomal recessive inheritance0DNA2 CL E G H17632939OMIM:615807Seckel syndrome 8.41
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13.116
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 2.63
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 25.27
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH1 CL E G H259812940OMIM:617577Ciliary dyskinesia, primary, 37.21
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH1 CL E G H259812940OMIM:617576Spermatogenic failure 18.21
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH10 CL E G H1963852941OMIM:619515SPERMATOGENIC FAILURE 56; SPGF5618
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH17 CL E G H86322946OMIM:618643SPERMATOGENIC FAILURE 39; SPGF3937
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH2 CL E G H1467542948OMIM:619094SPERMATOGENIC FAILURE 45; SPGF4515
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH8 CL E G H17692952OMIM:619095SPERMATOGENIC FAILURE 46; SPGF46153
HP:0000007HP:0000007Autosomal recessive inheritance0DNAH9 CL E G H17702953OMIM:618300Ciliary dyskinesia, primary, 40.18
HP:0000007HP:0000007Autosomal recessive inheritance0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0000007HP:0000007Autosomal recessive inheritance0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJB13 CL E G H37440730718OMIM:617091CILIARY DYSKINESIA, PRIMARY, 34; CILD342
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 5.30
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.3
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000007HP:0000007Autosomal recessive inheritance0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0000007HP:0000007Autosomal recessive inheritance0DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0000007HP:0000007Autosomal recessive inheritance0DNAL4 CL E G H101262955OMIM:616059Mirror movements 3.2
HP:0000007HP:0000007Autosomal recessive inheritance0DNASE1L3 CL E G H17762959OMIM:614420Systemic lupus erythematosus 16.3
HP:0000007HP:0000007Autosomal recessive inheritance0DNASE2 CL E G H17772960OMIM:619858
HP:0000007HP:0000007Autosomal recessive inheritance0DNHD1 CL E G H14413226532OMIM:619712SPERMATOGENIC FAILURE 65; SPGF65
HP:0000007HP:0000007Autosomal recessive inheritance0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0000007HP:0000007Autosomal recessive inheritance0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0000007HP:0000007Autosomal recessive inheritance0DNMBP CL E G H2326830373OMIM:618415Cataract 48.
HP:0000007HP:0000007Autosomal recessive inheritance0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0000007HP:0000007Autosomal recessive inheritance0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 40.6
HP:0000007HP:0000007Autosomal recessive inheritance0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0000007HP:0000007Autosomal recessive inheritance0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0000007HP:0000007Autosomal recessive inheritance0DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 23.11
HP:0000007HP:0000007Autosomal recessive inheritance0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive.217
HP:0000007HP:0000007Autosomal recessive inheritance0DOHH CL E G H8347528662OMIM:620066
HP:0000007HP:0000007Autosomal recessive inheritance0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0000007HP:0000007Autosomal recessive inheritance0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0000007HP:0000007Autosomal recessive inheritance0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0000007HP:0000007Autosomal recessive inheritance0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0000007HP:0000007Autosomal recessive inheritance0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0000007HP:0000007Autosomal recessive inheritance0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0000007HP:0000007Autosomal recessive inheritance0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0000007HP:0000007Autosomal recessive inheritance0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0000007HP:0000007Autosomal recessive inheritance0DPH2 CL E G H18023004OMIM:620062
HP:0000007HP:0000007Autosomal recessive inheritance0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000007HP:0000007Autosomal recessive inheritance0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0000007HP:0000007Autosomal recessive inheritance0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0000007HP:0000007Autosomal recessive inheritance0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0000007HP:0000007Autosomal recessive inheritance0DPY19L2 CL E G H28341719414OMIM:613958Spermatogenic failure 9.17
HP:0000007HP:0000007Autosomal recessive inheritance0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000007HP:0000007Autosomal recessive inheritance0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0000007HP:0000007Autosomal recessive inheritance0DRAM2 CL E G H12833828769OMIM:616502Cone-Rod dystrophy 21.9
HP:0000007HP:0000007Autosomal recessive inheritance0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0000007HP:0000007Autosomal recessive inheritance0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11.268
HP:0000007HP:0000007Autosomal recessive inheritance0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0000007HP:0000007Autosomal recessive inheritance0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000007HP:0000007Autosomal recessive inheritance0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0000007HP:0000007Autosomal recessive inheritance0DSG2 CL E G H18293049OMIM:612877CARDIOMYOPATHY, DILATED, 1BB; CMD1BB358
HP:0000007HP:0000007Autosomal recessive inheritance0DSG3 CL E G H18303050OMIM:619226BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA; ABOLM
HP:0000007HP:0000007Autosomal recessive inheritance0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 6.63
HP:0000007HP:0000007Autosomal recessive inheritance0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000007HP:0000007Autosomal recessive inheritance0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0000007HP:0000007Autosomal recessive inheritance0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0000007HP:0000007Autosomal recessive inheritance0DST CL E G H6671090OMIM:615425Epidermolysis bullosa simplex, autosomal recessive 2.108
HP:0000007HP:0000007Autosomal recessive inheritance0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0000007HP:0000007Autosomal recessive inheritance0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0000007HP:0000007Autosomal recessive inheritance0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0000007HP:0000007Autosomal recessive inheritance0DTYMK CL E G H18413061OMIM:619847
HP:0000007HP:0000007Autosomal recessive inheritance0DUOX2 CL E G H5050613273OMIM:607200Thyroid dyshormonogenesis 6.121
HP:0000007HP:0000007Autosomal recessive inheritance0DUOXA2 CL E G H40575332698OMIM:274900Thyroid hormonogenesis, genetic defect in, 5.11
HP:0000007HP:0000007Autosomal recessive inheritance0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0000007HP:0000007Autosomal recessive inheritance0DUT CL E G H18543078OMIM:620044
HP:0000007HP:0000007Autosomal recessive inheritance0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000007HP:0000007Autosomal recessive inheritance0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0000007HP:0000007Autosomal recessive inheritance0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000007HP:0000007Autosomal recessive inheritance0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3.304
HP:0000007HP:0000007Autosomal recessive inheritance0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0000007HP:0000007Autosomal recessive inheritance0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly.
HP:0000007HP:0000007Autosomal recessive inheritance0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0000007HP:0000007Autosomal recessive inheritance0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly.
HP:0000007HP:0000007Autosomal recessive inheritance0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0000007HP:0000007Autosomal recessive inheritance0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0000007HP:0000007Autosomal recessive inheritance0DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset.600
HP:0000007HP:0000007Autosomal recessive inheritance0DZIP1 CL E G H2287320908OMIM:619102SPERMATOGENIC FAILURE 47; SPGF47
HP:0000007HP:0000007Autosomal recessive inheritance0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 5.4
HP:0000007HP:0000007Autosomal recessive inheritance0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0000007HP:0000007Autosomal recessive inheritance0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0000007HP:0000007Autosomal recessive inheritance0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0000007HP:0000007Autosomal recessive inheritance0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0000007HP:0000007Autosomal recessive inheritance0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0000007HP:0000007Autosomal recessive inheritance0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000007HP:0000007Autosomal recessive inheritance0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000007HP:0000007Autosomal recessive inheritance0EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50.1
HP:0000007HP:0000007Autosomal recessive inheritance0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000007HP:0000007Autosomal recessive inheritance0EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 3.6
HP:0000007HP:0000007Autosomal recessive inheritance0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0000007HP:0000007Autosomal recessive inheritance0EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0000007HP:0000007Autosomal recessive inheritance0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0000007HP:0000007Autosomal recessive inheritance0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0000007HP:0000007Autosomal recessive inheritance0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0000007HP:0000007Autosomal recessive inheritance0EGF CL E G H19503229OMIM:611718HYPOMAGNESEMIA 4, RENAL; HOMG473
HP:0000007HP:0000007Autosomal recessive inheritance0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0000007HP:0000007Autosomal recessive inheritance0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0000007HP:0000007Autosomal recessive inheritance0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0000007HP:0000007Autosomal recessive inheritance0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0000007HP:0000007Autosomal recessive inheritance0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67.
HP:0000007HP:0000007Autosomal recessive inheritance0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000007HP:0000007Autosomal recessive inheritance0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0000007HP:0000007Autosomal recessive inheritance0ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous.3
HP:0000007HP:0000007Autosomal recessive inheritance0ELMOD3 CL E G H8417326158OMIM:615429DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB881
HP:0000007HP:0000007Autosomal recessive inheritance0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0000007HP:0000007Autosomal recessive inheritance0ELP1 CL E G H85185959OMIM:155255MEDULLOBLASTOMA.133
HP:0000007HP:0000007Autosomal recessive inheritance0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0000007HP:0000007Autosomal recessive inheritance0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0000007HP:0000007Autosomal recessive inheritance0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000007HP:0000007Autosomal recessive inheritance0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000007HP:0000007Autosomal recessive inheritance0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0000007HP:0000007Autosomal recessive inheritance0EMP2 CL E G H20133334OMIM:615861NEPHROTIC SYNDROME, TYPE 10; NPHS104
HP:0000007HP:0000007Autosomal recessive inheritance0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0000007HP:0000007Autosomal recessive inheritance0ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:0000007HP:0000007Autosomal recessive inheritance0ENO3 CL E G H20273354OMIM:612932Glycogen storage disease XIII.34
HP:0000007HP:0000007Autosomal recessive inheritance0ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1.151
HP:0000007HP:0000007Autosomal recessive inheritance0ENPP1 CL E G H51673356OMIM:613312Hypophosphatemic rickets, autosomal recessive, 2.151
HP:0000007HP:0000007Autosomal recessive inheritance0ENPP1 CL E G H51673356OMIM:601665OBESITY.151
HP:0000007HP:0000007Autosomal recessive inheritance0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0000007HP:0000007Autosomal recessive inheritance0EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 4.4
HP:0000007HP:0000007Autosomal recessive inheritance0EPB41 CL E G H20353377OMIM:611804Elliptocytosis 1.6
HP:0000007HP:0000007Autosomal recessive inheritance0EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0000007HP:0000007Autosomal recessive inheritance0EPCAM CL E G H407211529OMIM:613217Diarrhea 5, with tufting enteropathy, congenital.170
HP:0000007HP:0000007Autosomal recessive inheritance0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000007HP:0000007Autosomal recessive inheritance0EPHB2 CL E G H20483393OMIM:618462Bleeding disorder, platelet-type, 22.7
HP:0000007HP:0000007Autosomal recessive inheritance0EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0000007HP:0000007Autosomal recessive inheritance0EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora.83
HP:0000007HP:0000007Autosomal recessive inheritance0EPO CL E G H20563415OMIM:617911DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL1
HP:0000007HP:0000007Autosomal recessive inheritance0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0000007HP:0000007Autosomal recessive inheritance0EPS8 CL E G H20593420OMIM:615974Deafness, autosomal recessive 1022
HP:0000007HP:0000007Autosomal recessive inheritance0EPS8L2 CL E G H6478721296OMIM:617637DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB1062
HP:0000007HP:0000007Autosomal recessive inheritance0ERAL1 CL E G H262843424OMIM:617565PERRAULT SYNDROME 6; PRLTS61
HP:0000007HP:0000007Autosomal recessive inheritance0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0000007HP:0000007Autosomal recessive inheritance0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.12
HP:0000007HP:0000007Autosomal recessive inheritance0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive.12
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive.54
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC4 CL E G H20723436OMIM:615272Fanconi anemia, complementation group Q.158
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F.158
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G.83
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC6 CL E G H20743438OMIM:600630Uv-Sensitive syndrome 1.199
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC6L2 CL E G H37574826922OMIM:615715Bone marrow failure syndrome 2.4
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0000007HP:0000007Autosomal recessive inheritance0ERCC8 CL E G H11613439OMIM:614621UV-sensitive syndrome 2.55
HP:0000007HP:0000007Autosomal recessive inheritance0ERGIC1 CL E G H5722229205OMIM:208100Arthrogryposis multiplex congenita, Neurogenic type.
HP:0000007HP:0000007Autosomal recessive inheritance0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0000007HP:0000007Autosomal recessive inheritance0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0000007HP:0000007Autosomal recessive inheritance0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0000007HP:0000007Autosomal recessive inheritance0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000007HP:0000007Autosomal recessive inheritance0ESPN CL E G H8371513281OMIM:609006Deafness, autosomal recessive 36, with or without vestibular involvement.33
HP:0000007HP:0000007Autosomal recessive inheritance0ESPN CL E G H8371513281OMIM:618632USHER SYNDROME, TYPE 1M; USH1M33
HP:0000007HP:0000007Autosomal recessive inheritance0ESR1 CL E G H20993467OMIM:615363Estrogen resistance.13
HP:0000007HP:0000007Autosomal recessive inheritance0ESRP1 CL E G H5484525966OMIM:618013DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000007HP:0000007Autosomal recessive inheritance0ESRRB CL E G H21033473OMIM:608565DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB3578
HP:0000007HP:0000007Autosomal recessive inheritance0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0000007HP:0000007Autosomal recessive inheritance0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0000007HP:0000007Autosomal recessive inheritance0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0000007HP:0000007Autosomal recessive inheritance0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0000007HP:0000007Autosomal recessive inheritance0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000007HP:0000007Autosomal recessive inheritance0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000007HP:0000007Autosomal recessive inheritance0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000007HP:0000007Autosomal recessive inheritance0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0000007HP:0000007Autosomal recessive inheritance0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000007HP:0000007Autosomal recessive inheritance0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000007HP:0000007Autosomal recessive inheritance0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000007HP:0000007Autosomal recessive inheritance0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000007HP:0000007Autosomal recessive inheritance0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0000007HP:0000007Autosomal recessive inheritance0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000007HP:0000007Autosomal recessive inheritance0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0000007HP:0000007Autosomal recessive inheritance0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0000007HP:0000007Autosomal recessive inheritance0EXPH5 CL E G H2308630578OMIM:615028Epidermolysis bullosa, nonspecific, autosomal recessive.2
HP:0000007HP:0000007Autosomal recessive inheritance0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000007HP:0000007Autosomal recessive inheritance0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0000007HP:0000007Autosomal recessive inheritance0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0000007HP:0000007Autosomal recessive inheritance0F10 CL E G H21593528OMIM:227600Factor X deficiency.33
HP:0000007HP:0000007Autosomal recessive inheritance0F11 CL E G H21603529OMIM:612416Factor XI deficiency.132
HP:0000007HP:0000007Autosomal recessive inheritance0F12 CL E G H21613530OMIM:234000Factor XII deficiency.28
HP:0000007HP:0000007Autosomal recessive inheritance0F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of.60
HP:0000007HP:0000007Autosomal recessive inheritance0F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency.32
HP:0000007HP:0000007Autosomal recessive inheritance0F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency44
HP:0000007HP:0000007Autosomal recessive inheritance0F5 CL E G H21533542OMIM:600880Budd-Chiari syndrome.159
HP:0000007HP:0000007Autosomal recessive inheritance0F5 CL E G H21533542OMIM:227400Factor V deficiency.159
HP:0000007HP:0000007Autosomal recessive inheritance0F7 CL E G H21553544OMIM:227500Factor VII deficiency.70
HP:0000007HP:0000007Autosomal recessive inheritance0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0000007HP:0000007Autosomal recessive inheritance0FADD CL E G H87723573OMIM:613759INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS3
HP:0000007HP:0000007Autosomal recessive inheritance0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0000007HP:0000007Autosomal recessive inheritance0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000007HP:0000007Autosomal recessive inheritance0FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0000007HP:0000007Autosomal recessive inheritance0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000007HP:0000007Autosomal recessive inheritance0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000007HP:0000007Autosomal recessive inheritance0FAN1 CL E G H2290929170OMIM:614817Interstitial nephritis, karyomegalic.15
HP:0000007HP:0000007Autosomal recessive inheritance0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000007HP:0000007Autosomal recessive inheritance0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0000007HP:0000007Autosomal recessive inheritance0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000007HP:0000007Autosomal recessive inheritance0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000007HP:0000007Autosomal recessive inheritance0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000007HP:0000007Autosomal recessive inheritance0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0000007HP:0000007Autosomal recessive inheritance0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L.53
HP:0000007HP:0000007Autosomal recessive inheritance0FANCM CL E G H5769723168OMIM:618096Premature ovarian failure 15.107
HP:0000007HP:0000007Autosomal recessive inheritance0FANCM CL E G H5769723168OMIM:618086Spermatogenic failure 28.107
HP:0000007HP:0000007Autosomal recessive inheritance0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000007HP:0000007Autosomal recessive inheritance0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0000007HP:0000007Autosomal recessive inheritance0FARS2 CL E G H1066721062OMIM:617046Spastic paraplegia 77, autosomal recessive.36
HP:0000007HP:0000007Autosomal recessive inheritance0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000007HP:0000007Autosomal recessive inheritance0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0000007HP:0000007Autosomal recessive inheritance0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0000007HP:0000007Autosomal recessive inheritance0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0000007HP:0000007Autosomal recessive inheritance0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000007HP:0000007Autosomal recessive inheritance0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA.63
HP:0000007HP:0000007Autosomal recessive inheritance0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0000007HP:0000007Autosomal recessive inheritance0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000007HP:0000007Autosomal recessive inheritance0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0000007HP:0000007Autosomal recessive inheritance0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 45.8
HP:0000007HP:0000007Autosomal recessive inheritance0FBXO43 CL E G H28615128521OMIM:619697OOCYTE MATURATION DEFECT 12; OOMD12
HP:0000007HP:0000007Autosomal recessive inheritance0FBXO43 CL E G H28615128521OMIM:619696SPERMATOGENIC FAILURE 64; SPGF64
HP:0000007HP:0000007Autosomal recessive inheritance0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0000007HP:0000007Autosomal recessive inheritance0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis.6
HP:0000007HP:0000007Autosomal recessive inheritance0FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0000007HP:0000007Autosomal recessive inheritance0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0000007HP:0000007Autosomal recessive inheritance0FCN3 CL E G H85473625OMIM:613860FICOLIN 3 DEFICIENCY1
HP:0000007HP:0000007Autosomal recessive inheritance0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0000007HP:0000007Autosomal recessive inheritance0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000007HP:0000007Autosomal recessive inheritance0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0000007HP:0000007Autosomal recessive inheritance0FDXR CL E G H22323642OMIM:617717Auditory neuropathy and optic atrophy.
HP:0000007HP:0000007Autosomal recessive inheritance0FECH CL E G H22353647OMIM:177000Protoporphyria, erythropoietic, 1.145
HP:0000007HP:0000007Autosomal recessive inheritance0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000007HP:0000007Autosomal recessive inheritance0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III.23
HP:0000007HP:0000007Autosomal recessive inheritance0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia.2
HP:0000007HP:0000007Autosomal recessive inheritance0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0000007HP:0000007Autosomal recessive inheritance0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included.47
HP:0000007HP:0000007Autosomal recessive inheritance0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included.62
HP:0000007HP:0000007Autosomal recessive inheritance0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0000007HP:0000007Autosomal recessive inheritance0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0000007HP:0000007Autosomal recessive inheritance0FGF20 CL E G H262813677OMIM:615721Renal hypodysplasia/aplasia 2.2
HP:0000007HP:0000007Autosomal recessive inheritance0FGF23 CL E G H80743680OMIM:617993TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC251
HP:0000007HP:0000007Autosomal recessive inheritance0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0000007HP:0000007Autosomal recessive inheritance0FGF5 CL E G H22503683OMIM:190330Trichomegaly.3
HP:0000007HP:0000007Autosomal recessive inheritance0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0000007HP:0000007Autosomal recessive inheritance0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included.34
HP:0000007HP:0000007Autosomal recessive inheritance0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0000007HP:0000007Autosomal recessive inheritance0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0000007HP:0000007Autosomal recessive inheritance0FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital.111
HP:0000007HP:0000007Autosomal recessive inheritance0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000007HP:0000007Autosomal recessive inheritance0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0000007HP:0000007Autosomal recessive inheritance0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0000007HP:0000007Autosomal recessive inheritance0FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI.61
HP:0000007HP:0000007Autosomal recessive inheritance0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0000007HP:0000007Autosomal recessive inheritance0FKBP6 CL E G H84683722OMIM:620103
HP:0000007HP:0000007Autosomal recessive inheritance0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000007HP:0000007Autosomal recessive inheritance0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0000007HP:0000007Autosomal recessive inheritance0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0000007HP:0000007Autosomal recessive inheritance0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0000007HP:0000007Autosomal recessive inheritance0FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X.184
HP:0000007HP:0000007Autosomal recessive inheritance0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000007HP:0000007Autosomal recessive inheritance0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0000007HP:0000007Autosomal recessive inheritance0FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4.184
HP:0000007HP:0000007Autosomal recessive inheritance0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0000007HP:0000007Autosomal recessive inheritance0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.18
HP:0000007HP:0000007Autosomal recessive inheritance0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0000007HP:0000007Autosomal recessive inheritance0FLG2 CL E G H38869833276OMIM:618084Peeling skin syndrome 6.
HP:0000007HP:0000007Autosomal recessive inheritance0FLI1 CL E G H23133749OMIM:617443Bleeding disorder, platelet-type, 21.8
HP:0000007HP:0000007Autosomal recessive inheritance0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0000007HP:0000007Autosomal recessive inheritance0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000007HP:0000007Autosomal recessive inheritance0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0000007HP:0000007Autosomal recessive inheritance0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0000007HP:0000007Autosomal recessive inheritance0FMO3 CL E G H23283771OMIM:602079Trimethylaminuria55
HP:0000007HP:0000007Autosomal recessive inheritance0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0000007HP:0000007Autosomal recessive inheritance0FOCAD CL E G H5491423377OMIM:6199913
HP:0000007HP:0000007Autosomal recessive inheritance0FOLR1 CL E G H23483791OMIM:613068Neurodegeneration due to cerebral folate transport deficiency.47
HP:0000007HP:0000007Autosomal recessive inheritance0FOXE1 CL E G H23043806OMIM:241850Hypothyroidism, athyroidal, with spiky hair and cleft palate.9
HP:0000007HP:0000007Autosomal recessive inheritance0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0000007HP:0000007Autosomal recessive inheritance0FOXI1 CL E G H22993815OMIM:600791Enlarged vestibular aqueduct.33
HP:0000007HP:0000007Autosomal recessive inheritance0FOXI1 CL E G H22993815OMIM:274600Pendred syndrome.33
HP:0000007HP:0000007Autosomal recessive inheritance0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.54
HP:0000007HP:0000007Autosomal recessive inheritance0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0000007HP:0000007Autosomal recessive inheritance0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000007HP:0000007Autosomal recessive inheritance0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0000007HP:0000007Autosomal recessive inheritance0FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome.198
HP:0000007HP:0000007Autosomal recessive inheritance0FREM2 CL E G H34164025396OMIM:123570Cryptophthalmos, unilateral or bilateral, isolated263
HP:0000007HP:0000007Autosomal recessive inheritance0FREM2 CL E G H34164025396OMIM:617666Fraser syndrome 2.263
HP:0000007HP:0000007Autosomal recessive inheritance0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000007HP:0000007Autosomal recessive inheritance0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0000007HP:0000007Autosomal recessive inheritance0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia.23
HP:0000007HP:0000007Autosomal recessive inheritance0FSHR CL E G H24923969OMIM:233300Ovarian dysgenesis 1.50
HP:0000007HP:0000007Autosomal recessive inheritance0FSIP2 CL E G H40102421675OMIM:618153Spermatogenic failure 34.1
HP:0000007HP:0000007Autosomal recessive inheritance0FTCD CL E G H108413974OMIM:229100Formiminotransferase deficiency.65
HP:0000007HP:0000007Autosomal recessive inheritance0FTL CL E G H25123999OMIM:615604L-ferritin deficiency, dominant and recessive33
HP:0000007HP:0000007Autosomal recessive inheritance0FTO CL E G H7906824678OMIM:612460BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ1470
HP:0000007HP:0000007Autosomal recessive inheritance0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000007HP:0000007Autosomal recessive inheritance0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0000007HP:0000007Autosomal recessive inheritance0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000007HP:0000007Autosomal recessive inheritance0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0000007HP:0000007Autosomal recessive inheritance0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000007HP:0000007Autosomal recessive inheritance0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000007HP:0000007Autosomal recessive inheritance0FYB1 CL E G H25334036OMIM:273900THROMBOCYTOPENIA 3; THC34
HP:0000007HP:0000007Autosomal recessive inheritance0FYCO1 CL E G H7944314673OMIM:610019Cataract, autosomal recessive congenital 2.140
HP:0000007HP:0000007Autosomal recessive inheritance0FZD6 CL E G H83234044OMIM:161050Nail disorder, nonsyndromic congenital, 13
HP:0000007HP:0000007Autosomal recessive inheritance0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000007HP:0000007Autosomal recessive inheritance0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000007HP:0000007Autosomal recessive inheritance0GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0000007HP:0000007Autosomal recessive inheritance0GAB1 CL E G H25494066OMIM:605428Deafness, autosomal recessive 26.1
HP:0000007HP:0000007Autosomal recessive inheritance0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000007HP:0000007Autosomal recessive inheritance0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0000007HP:0000007Autosomal recessive inheritance0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0000007HP:0000007Autosomal recessive inheritance0GALK1 CL E G H25844118OMIM:230200Galactokinase deficiency.23
HP:0000007HP:0000007Autosomal recessive inheritance0GALM CL E G H13058924063OMIM:618881GALACTOSEMIA IV; GALAC4
HP:0000007HP:0000007Autosomal recessive inheritance0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000007HP:0000007Autosomal recessive inheritance0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000007HP:0000007Autosomal recessive inheritance0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0000007HP:0000007Autosomal recessive inheritance0GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0000007HP:0000007Autosomal recessive inheritance0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0000007HP:0000007Autosomal recessive inheritance0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0000007HP:0000007Autosomal recessive inheritance0GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411
HP:0000007HP:0000007Autosomal recessive inheritance0GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 33.9
HP:0000007HP:0000007Autosomal recessive inheritance0GATA5 CL E G H14062815802OMIM:617912Congenital heart defects, multiple types, 5.10
HP:0000007HP:0000007Autosomal recessive inheritance0GATA6 CL E G H26274174OMIM:217095Conotruncal heart malformations.37
HP:0000007HP:0000007Autosomal recessive inheritance0GATAD1 CL E G H5779829941OMIM:614672Cardiomyopathy, dilated, 2B.35
HP:0000007HP:0000007Autosomal recessive inheritance0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000007HP:0000007Autosomal recessive inheritance0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0000007HP:0000007Autosomal recessive inheritance0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0000007HP:0000007Autosomal recessive inheritance0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000007HP:0000007Autosomal recessive inheritance0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0000007HP:0000007Autosomal recessive inheritance0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0000007HP:0000007Autosomal recessive inheritance0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0000007HP:0000007Autosomal recessive inheritance0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0000007HP:0000007Autosomal recessive inheritance0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0000007HP:0000007Autosomal recessive inheritance0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0000007HP:0000007Autosomal recessive inheritance0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0000007HP:0000007Autosomal recessive inheritance0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0000007HP:0000007Autosomal recessive inheritance0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0000007HP:0000007Autosomal recessive inheritance0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemiaHP:0040283 - Occasional86
HP:0000007HP:0000007Autosomal recessive inheritance0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0000007HP:0000007Autosomal recessive inheritance0GCK CL E G H26454195OMIM:606176DIABETES MELLITUS, PERMANENT NEONATAL; PNDM237
HP:0000007HP:0000007Autosomal recessive inheritance0GCLC CL E G H27294311OMIM:230450Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto.2
HP:0000007HP:0000007Autosomal recessive inheritance0GCM2 CL E G H92474198OMIM:618883HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH251
HP:0000007HP:0000007Autosomal recessive inheritance0GCNT2 CL E G H26514204OMIM:116700Cataract 13 with adult i phenotype.66
HP:0000007HP:0000007Autosomal recessive inheritance0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0000007HP:0000007Autosomal recessive inheritance0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0000007HP:0000007Autosomal recessive inheritance0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive.108
HP:0000007HP:0000007Autosomal recessive inheritance0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0000007HP:0000007Autosomal recessive inheritance0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0000007HP:0000007Autosomal recessive inheritance0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0000007HP:0000007Autosomal recessive inheritance0GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark)28
HP:0000007HP:0000007Autosomal recessive inheritance0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0000007HP:0000007Autosomal recessive inheritance0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C.52
HP:0000007HP:0000007Autosomal recessive inheritance0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0000007HP:0000007Autosomal recessive inheritance0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly.52
HP:0000007HP:0000007Autosomal recessive inheritance0GDF6 CL E G H3922554221OMIM:615360LEBER CONGENITAL AMAUROSIS 17; LCA1764
HP:0000007HP:0000007Autosomal recessive inheritance0GDF9 CL E G H26614224OMIM:618014Premature ovarian failure 14.2
HP:0000007HP:0000007Autosomal recessive inheritance0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0000007HP:0000007Autosomal recessive inheritance0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0000007HP:0000007Autosomal recessive inheritance0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0000007HP:0000007Autosomal recessive inheritance0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0000007HP:0000007Autosomal recessive inheritance0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0000007HP:0000007Autosomal recessive inheritance0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0000007HP:0000007Autosomal recessive inheritance0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000007HP:0000007Autosomal recessive inheritance0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0000007HP:0000007Autosomal recessive inheritance0GFRA1 CL E G H26744243OMIM:6198871
HP:0000007HP:0000007Autosomal recessive inheritance0GGCX CL E G H26774247OMIM:610842PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY129
HP:0000007HP:0000007Autosomal recessive inheritance0GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1.129
HP:0000007HP:0000007Autosomal recessive inheritance0GGN CL E G H19972018869OMIM:619826SPERMATOGENIC FAILURE 69; SPGF69
HP:0000007HP:0000007Autosomal recessive inheritance0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000007HP:0000007Autosomal recessive inheritance0GGT1 CL E G H26784250OMIM:231950GLUTATHIONURIA.
HP:0000007HP:0000007Autosomal recessive inheritance0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA.50
HP:0000007HP:0000007Autosomal recessive inheritance0GH1 CL E G H26884261OMIM:612781Growth hormone deficiency, isolated, type IB50
HP:0000007HP:0000007Autosomal recessive inheritance0GH1 CL E G H26884261OMIM:262650Pituitary dwarfism IV.50
HP:0000007HP:0000007Autosomal recessive inheritance0GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0000007HP:0000007Autosomal recessive inheritance0GHR CL E G H26904263OMIM:262500Laron syndrome.98
HP:0000007HP:0000007Autosomal recessive inheritance0GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0000007HP:0000007Autosomal recessive inheritance0GHRL CL E G H5173818129OMIM:601665OBESITY.4
HP:0000007HP:0000007Autosomal recessive inheritance0GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial.37
HP:0000007HP:0000007Autosomal recessive inheritance0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000007HP:0000007Autosomal recessive inheritance0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0000007HP:0000007Autosomal recessive inheritance0GIPC3 CL E G H12632618183OMIM:601869DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB1540
HP:0000007HP:0000007Autosomal recessive inheritance0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000007HP:0000007Autosomal recessive inheritance0GJA1 CL E G H26974274OMIM:241550HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS168
HP:0000007HP:0000007Autosomal recessive inheritance0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000007HP:0000007Autosomal recessive inheritance0GJB2 CL E G H27064284OMIM:220290Deafness, autosomal recessive 1A.199
HP:0000007HP:0000007Autosomal recessive inheritance0GJB3 CL E G H27074285OMIM:220290Deafness, autosomal recessive 1A.74
HP:0000007HP:0000007Autosomal recessive inheritance0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000007HP:0000007Autosomal recessive inheritance0GJB6 CL E G H108044288OMIM:220290Deafness, autosomal recessive 1A.56
HP:0000007HP:0000007Autosomal recessive inheritance0GJB6 CL E G H108044288OMIM:612645Deafness, autosomal recessive 1B.56
HP:0000007HP:0000007Autosomal recessive inheritance0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0000007HP:0000007Autosomal recessive inheritance0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0000007HP:0000007Autosomal recessive inheritance0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0000007HP:0000007Autosomal recessive inheritance0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0000007HP:0000007Autosomal recessive inheritance0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0000007HP:0000007Autosomal recessive inheritance0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000007HP:0000007Autosomal recessive inheritance0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0000007HP:0000007Autosomal recessive inheritance0GLDN CL E G H34203529514OMIM:617194Lethal congenital contracture syndrome 11.6
HP:0000007HP:0000007Autosomal recessive inheritance0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000007HP:0000007Autosomal recessive inheritance0GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 1.45
HP:0000007HP:0000007Autosomal recessive inheritance0GLI1 CL E G H27354317OMIM:618123POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA81
HP:0000007HP:0000007Autosomal recessive inheritance0GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I.1
HP:0000007HP:0000007Autosomal recessive inheritance0GLIS2 CL E G H8466229450OMIM:611498NEPHRONOPHTHISIS 7; NPHP783
HP:0000007HP:0000007Autosomal recessive inheritance0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000007HP:0000007Autosomal recessive inheritance0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0000007HP:0000007Autosomal recessive inheritance0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0000007HP:0000007Autosomal recessive inheritance0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0000007HP:0000007Autosomal recessive inheritance0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0000007HP:0000007Autosomal recessive inheritance0GLS CL E G H27444331OMIM:618328Epileptic encephalopathy, early infantile, 71.
HP:0000007HP:0000007Autosomal recessive inheritance0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine.
HP:0000007HP:0000007Autosomal recessive inheritance0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0000007HP:0000007Autosomal recessive inheritance0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0000007HP:0000007Autosomal recessive inheritance0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0000007HP:0000007Autosomal recessive inheritance0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0000007HP:0000007Autosomal recessive inheritance0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0000007HP:0000007Autosomal recessive inheritance0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0000007HP:0000007Autosomal recessive inheritance0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.34
HP:0000007HP:0000007Autosomal recessive inheritance0GNAT1 CL E G H27794393OMIM:616389Night blindness, congenital stationary, type 1G.39
HP:0000007HP:0000007Autosomal recessive inheritance0GNAT2 CL E G H27804394OMIM:613856ACHROMATOPSIA 4; ACHM419
HP:0000007HP:0000007Autosomal recessive inheritance0GNB3 CL E G H27844400OMIM:617024Night blindness, congenital stationary, type 1H.5
HP:0000007HP:0000007Autosomal recessive inheritance0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0000007HP:0000007Autosomal recessive inheritance0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.7
HP:0000007HP:0000007Autosomal recessive inheritance0GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0000007HP:0000007Autosomal recessive inheritance0GNMT CL E G H272324415OMIM:606664GLYCINE N-METHYLTRANSFERASE DEFICIENCY.3
HP:0000007HP:0000007Autosomal recessive inheritance0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0000007HP:0000007Autosomal recessive inheritance0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000007HP:0000007Autosomal recessive inheritance0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0000007HP:0000007Autosomal recessive inheritance0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0000007HP:0000007Autosomal recessive inheritance0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0000007HP:0000007Autosomal recessive inheritance0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0000007HP:0000007Autosomal recessive inheritance0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0000007HP:0000007Autosomal recessive inheritance0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000007HP:0000007Autosomal recessive inheritance0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000007HP:0000007Autosomal recessive inheritance0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000007HP:0000007Autosomal recessive inheritance0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0000007HP:0000007Autosomal recessive inheritance0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000007HP:0000007Autosomal recessive inheritance0GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0000007HP:0000007Autosomal recessive inheritance0GP1BA CL E G H28114439OMIM:258660Nonarteritic anterior ischemic optic neuropathy, susceptibility to.23
HP:0000007HP:0000007Autosomal recessive inheritance0GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0000007HP:0000007Autosomal recessive inheritance0GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 11.24
HP:0000007HP:0000007Autosomal recessive inheritance0GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0000007HP:0000007Autosomal recessive inheritance0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000007HP:0000007Autosomal recessive inheritance0GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0000007HP:0000007Autosomal recessive inheritance0GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantile.3
HP:0000007HP:0000007Autosomal recessive inheritance0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0000007HP:0000007Autosomal recessive inheritance0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0000007HP:0000007Autosomal recessive inheritance0GPI CL E G H28214458OMIM:613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency.12
HP:0000007HP:0000007Autosomal recessive inheritance0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID.12
HP:0000007HP:0000007Autosomal recessive inheritance0GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3.
HP:0000007HP:0000007Autosomal recessive inheritance0GPR161 CL E G H2343223694OMIM:155255MEDULLOBLASTOMA.2
HP:0000007HP:0000007Autosomal recessive inheritance0GPR179 CL E G H44043531371OMIM:614565Night blindness, congenital stationary, type 1E.124
HP:0000007HP:0000007Autosomal recessive inheritance0GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0000007HP:0000007Autosomal recessive inheritance0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0000007HP:0000007Autosomal recessive inheritance0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0000007HP:0000007Autosomal recessive inheritance0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0000007HP:0000007Autosomal recessive inheritance0GPX1 CL E G H28764553OMIM:614164Glutathione peroxidase deficiency.1
HP:0000007HP:0000007Autosomal recessive inheritance0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0000007HP:0000007Autosomal recessive inheritance0GRAP CL E G H107504562OMIM:618456Deafness, autosomal recessive 114.
HP:0000007HP:0000007Autosomal recessive inheritance0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0000007HP:0000007Autosomal recessive inheritance0GRHPR CL E G H93804570OMIM:260000Hyperoxaluria, primary, type II.70
HP:0000007HP:0000007Autosomal recessive inheritance0GRIA1 CL E G H28904571OMIM:6199313
HP:0000007HP:0000007Autosomal recessive inheritance0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0000007HP:0000007Autosomal recessive inheritance0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6.32
HP:0000007HP:0000007Autosomal recessive inheritance0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0000007HP:0000007Autosomal recessive inheritance0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0000007HP:0000007Autosomal recessive inheritance0GRIP1 CL E G H2342618708OMIM:617667Fraser syndrome 3.80
HP:0000007HP:0000007Autosomal recessive inheritance0GRK1 CL E G H601110013OMIM:613411OGUCHI DISEASE 24
HP:0000007HP:0000007Autosomal recessive inheritance0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000007HP:0000007Autosomal recessive inheritance0GRM6 CL E G H29164598OMIM:257270Night blindness, congenital stationary, type 1B.63
HP:0000007HP:0000007Autosomal recessive inheritance0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0000007HP:0000007Autosomal recessive inheritance0GRN CL E G H28964601OMIM:614706Ceroid lipofuscinosis, neuronal, 11.126
HP:0000007HP:0000007Autosomal recessive inheritance0GRXCR1 CL E G H38920731673OMIM:613285Deafness, autosomal recessive 25.36
HP:0000007HP:0000007Autosomal recessive inheritance0GRXCR2 CL E G H64322633862OMIM:615837Deafness, autosomal recessive 101.3
HP:0000007HP:0000007Autosomal recessive inheritance0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0000007HP:0000007Autosomal recessive inheritance0GSR CL E G H29364623OMIM:618660HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY1
HP:0000007HP:0000007Autosomal recessive inheritance0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0000007HP:0000007Autosomal recessive inheritance0GSS CL E G H29374624OMIM:231900Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to.39
HP:0000007HP:0000007Autosomal recessive inheritance0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0000007HP:0000007Autosomal recessive inheritance0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0000007HP:0000007Autosomal recessive inheritance0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000007HP:0000007Autosomal recessive inheritance0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000007HP:0000007Autosomal recessive inheritance0GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 23.30
HP:0000007HP:0000007Autosomal recessive inheritance0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia.
HP:0000007HP:0000007Autosomal recessive inheritance0GUCY2C CL E G H29844688OMIM:614665Meconium ileus.12
HP:0000007HP:0000007Autosomal recessive inheritance0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6.124
HP:0000007HP:0000007Autosomal recessive inheritance0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0000007HP:0000007Autosomal recessive inheritance0GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0000007HP:0000007Autosomal recessive inheritance0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0000007HP:0000007Autosomal recessive inheritance0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0000007HP:0000007Autosomal recessive inheritance0GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV.18
HP:0000007HP:0000007Autosomal recessive inheritance0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 2.18
HP:0000007HP:0000007Autosomal recessive inheritance0GYS1 CL E G H29974706OMIM:611556Glycogen storage disease 0, muscle52
HP:0000007HP:0000007Autosomal recessive inheritance0GYS2 CL E G H29984707OMIM:240600Glycogen storage disease 0, liver.100
HP:0000007HP:0000007Autosomal recessive inheritance0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia.
HP:0000007HP:0000007Autosomal recessive inheritance0H6PD CL E G H95634795OMIM:604931Cortisone reductase deficiency 1.8
HP:0000007HP:0000007Autosomal recessive inheritance0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0000007HP:0000007Autosomal recessive inheritance0HACD1 CL E G H92009639OMIM:6199672
HP:0000007HP:0000007Autosomal recessive inheritance0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0000007HP:0000007Autosomal recessive inheritance0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0000007HP:0000007Autosomal recessive inheritance0HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 4.41
HP:0000007HP:0000007Autosomal recessive inheritance0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency.99
HP:0000007HP:0000007Autosomal recessive inheritance0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0000007HP:0000007Autosomal recessive inheritance0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0000007HP:0000007Autosomal recessive inheritance0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B15
HP:0000007HP:0000007Autosomal recessive inheritance0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB.
HP:0000007HP:0000007Autosomal recessive inheritance0HARS2 CL E G H234384817OMIM:614926PERRAULT SYNDROME 2; PRLTS229
HP:0000007HP:0000007Autosomal recessive inheritance0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE.
HP:0000007HP:0000007Autosomal recessive inheritance0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0000007HP:0000007Autosomal recessive inheritance0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0000007HP:0000007Autosomal recessive inheritance0HEATR3 CL E G H5502726087OMIM:620072
HP:0000007HP:0000007Autosomal recessive inheritance0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0000007HP:0000007Autosomal recessive inheritance0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0000007HP:0000007Autosomal recessive inheritance0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0000007HP:0000007Autosomal recessive inheritance0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000007HP:0000007Autosomal recessive inheritance0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000007HP:0000007Autosomal recessive inheritance0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000007HP:0000007Autosomal recessive inheritance0HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive.10
HP:0000007HP:0000007Autosomal recessive inheritance0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0000007HP:0000007Autosomal recessive inheritance0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0000007HP:0000007Autosomal recessive inheritance0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0000007HP:0000007Autosomal recessive inheritance0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0000007HP:0000007Autosomal recessive inheritance0HFM1 CL E G H16404520193OMIM:615724Premature ovarian failure 9.6
HP:0000007HP:0000007Autosomal recessive inheritance0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0000007HP:0000007Autosomal recessive inheritance0HGF CL E G H30824893OMIM:608265Deafness, congenital neurosensory, autosomal recessive 39.39
HP:0000007HP:0000007Autosomal recessive inheritance0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0000007HP:0000007Autosomal recessive inheritance0HGSNAT CL E G H13805026527OMIM:616544Retinitis pigmentosa 73.86
HP:0000007HP:0000007Autosomal recessive inheritance0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0000007HP:0000007Autosomal recessive inheritance0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0000007HP:0000007Autosomal recessive inheritance0HID1 CL E G H28398715736OMIM:619983
HP:0000007HP:0000007Autosomal recessive inheritance0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0000007HP:0000007Autosomal recessive inheritance0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0000007HP:0000007Autosomal recessive inheritance0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0000007HP:0000007Autosomal recessive inheritance0HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency.11
HP:0000007HP:0000007Autosomal recessive inheritance0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type.11
HP:0000007HP:0000007Autosomal recessive inheritance0HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0000007HP:0000007Autosomal recessive inheritance0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000007HP:0000007Autosomal recessive inheritance0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000007HP:0000007Autosomal recessive inheritance0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0000007HP:0000007Autosomal recessive inheritance0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0000007HP:0000007Autosomal recessive inheritance0HMGCS2 CL E G H31585008OMIM:6059113-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency.42
HP:0000007HP:0000007Autosomal recessive inheritance0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0000007HP:0000007Autosomal recessive inheritance0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 513
HP:0000007HP:0000007Autosomal recessive inheritance0HOGA1 CL E G H11281725155OMIM:613616HYPEROXALURIA, PRIMARY, TYPE III; HP383
HP:0000007HP:0000007Autosomal recessive inheritance0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0000007HP:0000007Autosomal recessive inheritance0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0000007HP:0000007Autosomal recessive inheritance0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000007HP:0000007Autosomal recessive inheritance0HOXC13 CL E G H32295125OMIM:614931Ectodermal dysplasia 9, Hair/nail type3
HP:0000007HP:0000007Autosomal recessive inheritance0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0000007HP:0000007Autosomal recessive inheritance0HPD CL E G H32425147OMIM:276710Tyrosinemia, type III.23
HP:0000007HP:0000007Autosomal recessive inheritance0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000007HP:0000007Autosomal recessive inheritance0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0000007HP:0000007Autosomal recessive inheritance0HPGD CL E G H32485154OMIM:119900DIGITAL CLUBBING, ISOLATED CONGENITAL55
HP:0000007HP:0000007Autosomal recessive inheritance0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000007HP:0000007Autosomal recessive inheritance0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0000007HP:0000007Autosomal recessive inheritance0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0000007HP:0000007Autosomal recessive inheritance0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0000007HP:0000007Autosomal recessive inheritance0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0000007HP:0000007Autosomal recessive inheritance0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0000007HP:0000007Autosomal recessive inheritance0HPSE2 CL E G H6049518374OMIM:236730Urofacial syndrome.9
HP:0000007HP:0000007Autosomal recessive inheritance0HR CL E G H558065172OMIM:203655Alopecia universalis congenita.106
HP:0000007HP:0000007Autosomal recessive inheritance0HR CL E G H558065172OMIM:209500Atrichia with papular lesions.106
HP:0000007HP:0000007Autosomal recessive inheritance0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000007HP:0000007Autosomal recessive inheritance0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0000007HP:0000007Autosomal recessive inheritance0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0000007HP:0000007Autosomal recessive inheritance0HSD17B3 CL E G H32935212OMIM:264300Pseudohermaphroditism, male, with gynecomastia31
HP:0000007HP:0000007Autosomal recessive inheritance0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000007HP:0000007Autosomal recessive inheritance0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1.98
HP:0000007HP:0000007Autosomal recessive inheritance0HSD3B2 CL E G H32845218OMIM:201810Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.34
HP:0000007HP:0000007Autosomal recessive inheritance0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0000007HP:0000007Autosomal recessive inheritance0HSF2BP CL E G H110775226OMIM:619245PREMATURE OVARIAN FAILURE 19; POF191
HP:0000007HP:0000007Autosomal recessive inheritance0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000007HP:0000007Autosomal recessive inheritance0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0000007HP:0000007Autosomal recessive inheritance0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0000007HP:0000007Autosomal recessive inheritance0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000007HP:0000007Autosomal recessive inheritance0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0000007HP:0000007Autosomal recessive inheritance0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0000007HP:0000007Autosomal recessive inheritance0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0000007HP:0000007Autosomal recessive inheritance0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000007HP:0000007Autosomal recessive inheritance0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0000007HP:0000007Autosomal recessive inheritance0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0000007HP:0000007Autosomal recessive inheritance0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 1.31
HP:0000007HP:0000007Autosomal recessive inheritance0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0000007HP:0000007Autosomal recessive inheritance0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0000007HP:0000007Autosomal recessive inheritance0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000007HP:0000007Autosomal recessive inheritance0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0000007HP:0000007Autosomal recessive inheritance0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive.16
HP:0000007HP:0000007Autosomal recessive inheritance0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0000007HP:0000007Autosomal recessive inheritance0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0000007HP:0000007Autosomal recessive inheritance0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0000007HP:0000007Autosomal recessive inheritance0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0000007HP:0000007Autosomal recessive inheritance0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0000007HP:0000007Autosomal recessive inheritance0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0000007HP:0000007Autosomal recessive inheritance0IDUA CL E G H34255391OMIM:607016Scheie syndrome.115
HP:0000007HP:0000007Autosomal recessive inheritance0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0000007HP:0000007Autosomal recessive inheritance0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0000007HP:0000007Autosomal recessive inheritance0IFNAR1 CL E G H34545432OMIM:619935
HP:0000007HP:0000007Autosomal recessive inheritance0IFNAR2 CL E G H34555433OMIM:616669Immunodeficiency 45.2
HP:0000007HP:0000007Autosomal recessive inheritance0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0000007HP:0000007Autosomal recessive inheritance0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0000007HP:0000007Autosomal recessive inheritance0IFNGR2 CL E G H34605440OMIM:614889Immunodeficiency 28.38
HP:0000007HP:0000007Autosomal recessive inheritance0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000007HP:0000007Autosomal recessive inheritance0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80.148
HP:0000007HP:0000007Autosomal recessive inheritance0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000007HP:0000007Autosomal recessive inheritance0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000007HP:0000007Autosomal recessive inheritance0IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 71.48
HP:0000007HP:0000007Autosomal recessive inheritance0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0000007HP:0000007Autosomal recessive inheritance0IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 19.1
HP:0000007HP:0000007Autosomal recessive inheritance0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0000007HP:0000007Autosomal recessive inheritance0IFT43 CL E G H11275229669OMIM:617871Retinitis pigmentosa 81.11
HP:0000007HP:0000007Autosomal recessive inheritance0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000007HP:0000007Autosomal recessive inheritance0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000007HP:0000007Autosomal recessive inheritance0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII
HP:0000007HP:0000007Autosomal recessive inheritance0IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0000007HP:0000007Autosomal recessive inheritance0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0000007HP:0000007Autosomal recessive inheritance0IFT74 CL E G H8017321424OMIM:619585SPERMATOGENIC FAILURE 58; SPGF583
HP:0000007HP:0000007Autosomal recessive inheritance0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0000007HP:0000007Autosomal recessive inheritance0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0000007HP:0000007Autosomal recessive inheritance0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000007HP:0000007Autosomal recessive inheritance0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000007HP:0000007Autosomal recessive inheritance0IGFBP7 CL E G H34905476OMIM:614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.2
HP:0000007HP:0000007Autosomal recessive inheritance0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0000007HP:0000007Autosomal recessive inheritance0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S.209
HP:0000007HP:0000007Autosomal recessive inheritance0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0000007HP:0000007Autosomal recessive inheritance0IGKC CL E G H35145716OMIM:614102Immunoglobulin kappa light chain deficiency.5
HP:0000007HP:0000007Autosomal recessive inheritance0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive.3
HP:0000007HP:0000007Autosomal recessive inheritance0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defect3
HP:0000007HP:0000007Autosomal recessive inheritance0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia.44
HP:0000007HP:0000007Autosomal recessive inheritance0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0000007HP:0000007Autosomal recessive inheritance0IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0000007HP:0000007Autosomal recessive inheritance0IL10RB CL E G H35885965OMIM:612567INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD2529
HP:0000007HP:0000007Autosomal recessive inheritance0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies.8
HP:0000007HP:0000007Autosomal recessive inheritance0IL12B CL E G H35935970OMIM:614890Immunodeficiency 29.31
HP:0000007HP:0000007Autosomal recessive inheritance0IL12RB1 CL E G H35945971OMIM:614891Immunodeficiency 30.46
HP:0000007HP:0000007Autosomal recessive inheritance0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000007HP:0000007Autosomal recessive inheritance0IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 9.4
HP:0000007HP:0000007Autosomal recessive inheritance0IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmia.9
HP:0000007HP:0000007Autosomal recessive inheritance0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000007HP:0000007Autosomal recessive inheritance0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0000007HP:0000007Autosomal recessive inheritance0IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0000007HP:0000007Autosomal recessive inheritance0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0000007HP:0000007Autosomal recessive inheritance0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0000007HP:0000007Autosomal recessive inheritance0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0000007HP:0000007Autosomal recessive inheritance0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0000007HP:0000007Autosomal recessive inheritance0IL37 CL E G H2717815563OMIM:619398INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0000007HP:0000007Autosomal recessive inheritance0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0000007HP:0000007Autosomal recessive inheritance0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000007HP:0000007Autosomal recessive inheritance0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0000007HP:0000007Autosomal recessive inheritance0IL7 CL E G H35746023OMIM:618309EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0000007HP:0000007Autosomal recessive inheritance0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0000007HP:0000007Autosomal recessive inheritance0ILDR1 CL E G H28667628741OMIM:609646Deafness, neurosensory, autosomal recessive 42.42
HP:0000007HP:0000007Autosomal recessive inheritance0IMPA1 CL E G H36126050OMIM:617323Mental retardation, autosomal recessive 59.1
HP:0000007HP:0000007Autosomal recessive inheritance0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000007HP:0000007Autosomal recessive inheritance0ING1 CL E G H36216062OMIM:275355Squamous cell carcinoma, head and neck.3
HP:0000007HP:0000007Autosomal recessive inheritance0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000007HP:0000007Autosomal recessive inheritance0INPP5E CL E G H5662321474OMIM:610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome111
HP:0000007HP:0000007Autosomal recessive inheritance0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0000007HP:0000007Autosomal recessive inheritance0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0000007HP:0000007Autosomal recessive inheritance0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0000007HP:0000007Autosomal recessive inheritance0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000007HP:0000007Autosomal recessive inheritance0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000007HP:0000007Autosomal recessive inheritance0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000007HP:0000007Autosomal recessive inheritance0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0000007HP:0000007Autosomal recessive inheritance0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000007HP:0000007Autosomal recessive inheritance0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000007HP:0000007Autosomal recessive inheritance0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.106
HP:0000007HP:0000007Autosomal recessive inheritance0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000007HP:0000007Autosomal recessive inheritance0IQCB1 CL E G H965728949OMIM:609254Senior-Loken syndrome 5.61
HP:0000007HP:0000007Autosomal recessive inheritance0IQCE CL E G H2328829171OMIM:617642Polydactyly, postaxial, type A7.1
HP:0000007HP:0000007Autosomal recessive inheritance0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000007HP:0000007Autosomal recessive inheritance0IRAK4 CL E G H5113517967OMIM:607676Immunodeficiency 6758
HP:0000007HP:0000007Autosomal recessive inheritance0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0000007HP:0000007Autosomal recessive inheritance0IRF7 CL E G H36656122OMIM:616345Immunodeficiency 39.2
HP:0000007HP:0000007Autosomal recessive inheritance0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0000007HP:0000007Autosomal recessive inheritance0IRF9 CL E G H103796131OMIM:618648IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0000007HP:0000007Autosomal recessive inheritance0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000007HP:0000007Autosomal recessive inheritance0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5.1
HP:0000007HP:0000007Autosomal recessive inheritance0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0000007HP:0000007Autosomal recessive inheritance0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0000007HP:0000007Autosomal recessive inheritance0ISG15 CL E G H96364053OMIM:616126Immunodeficiency 38 with basal ganglia calcification4
HP:0000007HP:0000007Autosomal recessive inheritance0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000007HP:0000007Autosomal recessive inheritance0ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia.69
HP:0000007HP:0000007Autosomal recessive inheritance0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0000007HP:0000007Autosomal recessive inheritance0ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0000007HP:0000007Autosomal recessive inheritance0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0000007HP:0000007Autosomal recessive inheritance0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0000007HP:0000007Autosomal recessive inheritance0ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0000007HP:0000007Autosomal recessive inheritance0ITGB3 CL E G H36906156OMIM:619267GLANZMANN THROMBASTHENIA 2; GT280
HP:0000007HP:0000007Autosomal recessive inheritance0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0000007HP:0000007Autosomal recessive inheritance0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0000007HP:0000007Autosomal recessive inheritance0ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0000007HP:0000007Autosomal recessive inheritance0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0000007HP:0000007Autosomal recessive inheritance0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0000007HP:0000007Autosomal recessive inheritance0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0000007HP:0000007Autosomal recessive inheritance0ITPR2 CL E G H37096181OMIM:106190Anhidrosis, isolated, with normal sweat glands.1
HP:0000007HP:0000007Autosomal recessive inheritance0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0000007HP:0000007Autosomal recessive inheritance0IYD CL E G H38943421071OMIM:274800Thyroid hormonogenesis, genetic defect in, 4.130
HP:0000007HP:0000007Autosomal recessive inheritance0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000007HP:0000007Autosomal recessive inheritance0JAGN1 CL E G H8452226926OMIM:616022Neutropenia, severe congenital, 6, autosomal recessive.8
HP:0000007HP:0000007Autosomal recessive inheritance0JAK2 CL E G H37176192OMIM:600880Budd-Chiari syndrome.57
HP:0000007HP:0000007Autosomal recessive inheritance0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0000007HP:0000007Autosomal recessive inheritance0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000007HP:0000007Autosomal recessive inheritance0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts.4
HP:0000007HP:0000007Autosomal recessive inheritance0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0000007HP:0000007Autosomal recessive inheritance0JPH2 CL E G H5715814202OMIM:619492CARDIOMYOPATHY, DILATED, 2E; CMD2E111
HP:0000007HP:0000007Autosomal recessive inheritance0JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0000007HP:0000007Autosomal recessive inheritance0KANK2 CL E G H2595929300OMIM:617783Nephrotic syndrome, type 16.1
HP:0000007HP:0000007Autosomal recessive inheritance0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0000007HP:0000007Autosomal recessive inheritance0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0000007HP:0000007Autosomal recessive inheritance0KARS1 CL E G H37356215OMIM:613916Deafness, autosomal recessive 89.
HP:0000007HP:0000007Autosomal recessive inheritance0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000007HP:0000007Autosomal recessive inheritance0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000007HP:0000007Autosomal recessive inheritance0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000007HP:0000007Autosomal recessive inheritance0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0000007HP:0000007Autosomal recessive inheritance0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0000007HP:0000007Autosomal recessive inheritance0KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2.148
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ10 CL E G H37666256OMIM:600791Enlarged vestibular aqueduct.121
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome.121
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2.127
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ13 CL E G H37696259OMIM:614186Leber congenital amaurosis 16.42
HP:0000007HP:0000007Autosomal recessive inheritance0KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000007HP:0000007Autosomal recessive inheritance0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0000007HP:0000007Autosomal recessive inheritance0KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1.730
HP:0000007HP:0000007Autosomal recessive inheritance0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000007HP:0000007Autosomal recessive inheritance0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0000007HP:0000007Autosomal recessive inheritance0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0000007HP:0000007Autosomal recessive inheritance0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000007HP:0000007Autosomal recessive inheritance0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 4.4
HP:0000007HP:0000007Autosomal recessive inheritance0KERA CL E G H110816309OMIM:217300Cornea plana 2.8
HP:0000007HP:0000007Autosomal recessive inheritance0KHDC3L CL E G H15428833699OMIM:614293HYDATIDIFORM MOLE, RECURRENT, 2; HYDM25
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA0586 CL E G H978619960OMIM:616490Joubert syndrome 23.24
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV.4
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10.
HP:0000007HP:0000007Autosomal recessive inheritance0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0000007HP:0000007Autosomal recessive inheritance0KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0000007HP:0000007Autosomal recessive inheritance0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0000007HP:0000007Autosomal recessive inheritance0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12.9
HP:0000007HP:0000007Autosomal recessive inheritance0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0000007HP:0000007Autosomal recessive inheritance0KIF15 CL E G H5699217273OMIM:619981
HP:0000007HP:0000007Autosomal recessive inheritance0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0000007HP:0000007Autosomal recessive inheritance0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC.276
HP:0000007HP:0000007Autosomal recessive inheritance0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive.276
HP:0000007HP:0000007Autosomal recessive inheritance0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0000007HP:0000007Autosomal recessive inheritance0KIF20A CL E G H101129787OMIM:619433CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0000007HP:0000007Autosomal recessive inheritance0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0000007HP:0000007Autosomal recessive inheritance0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0000007HP:0000007Autosomal recessive inheritance0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2.167
HP:0000007HP:0000007Autosomal recessive inheritance0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000007HP:0000007Autosomal recessive inheritance0KIRREL1 CL E G H5524315734OMIM:619201NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000007HP:0000007Autosomal recessive inheritance0KISS1 CL E G H38146341OMIM:614842Hypogonadotropic hypogonadism 13 with or without anosmia.3
HP:0000007HP:0000007Autosomal recessive inheritance0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0000007HP:0000007Autosomal recessive inheritance0KITLG CL E G H42546343OMIM:6199479
HP:0000007HP:0000007Autosomal recessive inheritance0KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 69.3
HP:0000007HP:0000007Autosomal recessive inheritance0KL CL E G H93656344OMIM:617994TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC368
HP:0000007HP:0000007Autosomal recessive inheritance0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0000007HP:0000007Autosomal recessive inheritance0KLHDC8B CL E G H20094228557OMIM:236000Lymphoma, hodgkin.1
HP:0000007HP:0000007Autosomal recessive inheritance0KLHL3 CL E G H262496354OMIM:614495Pseudohypoaldosteronism, type IID.118
HP:0000007HP:0000007Autosomal recessive inheritance0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0000007HP:0000007Autosomal recessive inheritance0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9.13
HP:0000007HP:0000007Autosomal recessive inheritance0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0000007HP:0000007Autosomal recessive inheritance0KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1.6
HP:0000007HP:0000007Autosomal recessive inheritance0KLKB1 CL E G H38186371OMIM:612423PREKALLIKREIN DEFICIENCY8
HP:0000007HP:0000007Autosomal recessive inheritance0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000007HP:0000007Autosomal recessive inheritance0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0000007HP:0000007Autosomal recessive inheritance0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type.1
HP:0000007HP:0000007Autosomal recessive inheritance0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis.100
HP:0000007HP:0000007Autosomal recessive inheritance0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis.45
HP:0000007HP:0000007Autosomal recessive inheritance0KRT14 CL E G H38616416OMIM:601001Epidermolysis bullosa simplex, autosomal recessive 1.110
HP:0000007HP:0000007Autosomal recessive inheritance0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0000007HP:0000007Autosomal recessive inheritance0KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0000007HP:0000007Autosomal recessive inheritance0KRT5 CL E G H38526442OMIM:619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D173
HP:0000007HP:0000007Autosomal recessive inheritance0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0000007HP:0000007Autosomal recessive inheritance0KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 5.65
HP:0000007HP:0000007Autosomal recessive inheritance0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type2
HP:0000007HP:0000007Autosomal recessive inheritance0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0000007HP:0000007Autosomal recessive inheritance0KYNU CL E G H89426469OMIM:236800HYDROXYKYNURENINURIA.5
HP:0000007HP:0000007Autosomal recessive inheritance0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0000007HP:0000007Autosomal recessive inheritance0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0000007HP:0000007Autosomal recessive inheritance0LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA3 CL E G H39096483OMIM:619783EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A116
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA3 CL E G H39096483OMIM:619784EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B116
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome.116
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA5 CL E G H39116485OMIM:6200765
HP:0000007HP:0000007Autosomal recessive inheritance0LAMA5 CL E G H39116485OMIM:6200495
HP:0000007HP:0000007Autosomal recessive inheritance0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0000007HP:0000007Autosomal recessive inheritance0LAMB2 CL E G H39136487OMIM:614199Nephrotic syndrome, type 5, with or without ocular abnormalities92
HP:0000007HP:0000007Autosomal recessive inheritance0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0000007HP:0000007Autosomal recessive inheritance0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0000007HP:0000007Autosomal recessive inheritance0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type.167
HP:0000007HP:0000007Autosomal recessive inheritance0LAMC2 CL E G H39186493OMIM:619785EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A135
HP:0000007HP:0000007Autosomal recessive inheritance0LAMC2 CL E G H39186493OMIM:619786EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B135
HP:0000007HP:0000007Autosomal recessive inheritance0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0000007HP:0000007Autosomal recessive inheritance0LAMC3 CL E G H103196494OMIM:614115Cortical malformations, occipital.114
HP:0000007HP:0000007Autosomal recessive inheritance0LAMTOR2 CL E G H2895629796OMIM:610798Immunodeficiency due to defect in mapbp-interacting protein.1
HP:0000007HP:0000007Autosomal recessive inheritance0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000007HP:0000007Autosomal recessive inheritance0LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6.136
HP:0000007HP:0000007Autosomal recessive inheritance0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0000007HP:0000007Autosomal recessive inheritance0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0000007HP:0000007Autosomal recessive inheritance0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0000007HP:0000007Autosomal recessive inheritance0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0000007HP:0000007Autosomal recessive inheritance0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0000007HP:0000007Autosomal recessive inheritance0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0000007HP:0000007Autosomal recessive inheritance0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0000007HP:0000007Autosomal recessive inheritance0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0000007HP:0000007Autosomal recessive inheritance0LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 570
HP:0000007HP:0000007Autosomal recessive inheritance0LCAT CL E G H39316522OMIM:136120Fish-Eye disease.26
HP:0000007HP:0000007Autosomal recessive inheritance0LCAT CL E G H39316522OMIM:245900Lecithin:cholesterol acyltransferase deficiency.26
HP:0000007HP:0000007Autosomal recessive inheritance0LCK CL E G H39326524OMIM:615758Immunodeficiency 22.1
HP:0000007HP:0000007Autosomal recessive inheritance0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0000007HP:0000007Autosomal recessive inheritance0LCT CL E G H39386530OMIM:223000Lactase deficiency, congenital.72
HP:0000007HP:0000007Autosomal recessive inheritance0LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI.35
HP:0000007HP:0000007Autosomal recessive inheritance0LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID.
HP:0000007HP:0000007Autosomal recessive inheritance0LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0000007HP:0000007Autosomal recessive inheritance0LDLRAP1 CL E G H2611918640OMIM:603813Hypercholesterolemia, autosomal recessiveHP:0040280 - Obligate73
HP:0000007HP:0000007Autosomal recessive inheritance0LEMD2 CL E G H22149621244OMIM:212500CATARACT 46, JUVENILE-ONSET; CTRCT461
HP:0000007HP:0000007Autosomal recessive inheritance0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0000007HP:0000007Autosomal recessive inheritance0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency.46
HP:0000007HP:0000007Autosomal recessive inheritance0LETM1 CL E G H39546556OMIM:6200892
HP:0000007HP:0000007Autosomal recessive inheritance0LFNG CL E G H39556560OMIM:609813Spondylocostal dysostosis 3, autosomal recessive.13
HP:0000007HP:0000007Autosomal recessive inheritance0LGI3 CL E G H20319018711OMIM:620007
HP:0000007HP:0000007Autosomal recessive inheritance0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000007HP:0000007Autosomal recessive inheritance0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0000007HP:0000007Autosomal recessive inheritance0LHCGR CL E G H39736585OMIM:238320Hypergonadotropic hypogonadism.67
HP:0000007HP:0000007Autosomal recessive inheritance0LHFPL5 CL E G H22266221253OMIM:610265DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB6793
HP:0000007HP:0000007Autosomal recessive inheritance0LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism.51
HP:0000007HP:0000007Autosomal recessive inheritance0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0000007HP:0000007Autosomal recessive inheritance0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0000007HP:0000007Autosomal recessive inheritance0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000007HP:0000007Autosomal recessive inheritance0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0000007HP:0000007Autosomal recessive inheritance0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0000007HP:0000007Autosomal recessive inheritance0LIM2 CL E G H39826610OMIM:615277Cataract 19, multiple types16
HP:0000007HP:0000007Autosomal recessive inheritance0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0000007HP:0000007Autosomal recessive inheritance0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64.
HP:0000007HP:0000007Autosomal recessive inheritance0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27.25
HP:0000007HP:0000007Autosomal recessive inheritance0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0000007HP:0000007Autosomal recessive inheritance0LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0000007HP:0000007Autosomal recessive inheritance0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6.7
HP:0000007HP:0000007Autosomal recessive inheritance0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 7.12
HP:0000007HP:0000007Autosomal recessive inheritance0LIPN CL E G H64341823452OMIM:613943Ichthyosis, congenital, autosomal recessive 8.1
HP:0000007HP:0000007Autosomal recessive inheritance0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0000007HP:0000007Autosomal recessive inheritance0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0000007HP:0000007Autosomal recessive inheritance0LMAN1 CL E G H39986631OMIM:227300Factor V and factor VIII, combined deficiency of.56
HP:0000007HP:0000007Autosomal recessive inheritance0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0000007HP:0000007Autosomal recessive inheritance0LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0000007HP:0000007Autosomal recessive inheritance0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0000007HP:0000007Autosomal recessive inheritance0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0000007HP:0000007Autosomal recessive inheritance0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0000007HP:0000007Autosomal recessive inheritance0LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive.645
HP:0000007HP:0000007Autosomal recessive inheritance0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0000007HP:0000007Autosomal recessive inheritance0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0000007HP:0000007Autosomal recessive inheritance0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 9.11
HP:0000007HP:0000007Autosomal recessive inheritance0LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000007HP:0000007Autosomal recessive inheritance0LMOD2 CL E G H4427216648OMIM:619897
HP:0000007HP:0000007Autosomal recessive inheritance0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0000007HP:0000007Autosomal recessive inheritance0LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0000007HP:0000007Autosomal recessive inheritance0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0000007HP:0000007Autosomal recessive inheritance0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000007HP:0000007Autosomal recessive inheritance0LOXHD1 CL E G H12533626521OMIM:613079DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77278
HP:0000007HP:0000007Autosomal recessive inheritance0LOXL3 CL E G H8469513869OMIM:619781MYOPIA 28, AUTOSOMAL RECESSIVE; MYP284
HP:0000007HP:0000007Autosomal recessive inheritance0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8.8
HP:0000007HP:0000007Autosomal recessive inheritance0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0000007HP:0000007Autosomal recessive inheritance0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0000007HP:0000007Autosomal recessive inheritance0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0000007HP:0000007Autosomal recessive inheritance0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 14.62
HP:0000007HP:0000007Autosomal recessive inheritance0LRAT CL E G H92276685OMIM:268000Retinitis pigmentosa.62
HP:0000007HP:0000007Autosomal recessive inheritance0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000007HP:0000007Autosomal recessive inheritance0LRIG2 CL E G H986020889OMIM:615112Urofacial syndrome 2.5
HP:0000007HP:0000007Autosomal recessive inheritance0LRIT3 CL E G H34519324783OMIM:615058Night blindness, congenital stationary, type 1F.54
HP:0000007HP:0000007Autosomal recessive inheritance0LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V.13
HP:0000007HP:0000007Autosomal recessive inheritance0LRP1 CL E G H40356692OMIM:604093Keratosis pilaris atrophicans.4
HP:0000007HP:0000007Autosomal recessive inheritance0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000007HP:0000007Autosomal recessive inheritance0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0000007HP:0000007Autosomal recessive inheritance0LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17.124
HP:0000007HP:0000007Autosomal recessive inheritance0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0000007HP:0000007Autosomal recessive inheritance0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0000007HP:0000007Autosomal recessive inheritance0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0000007HP:0000007Autosomal recessive inheritance0LRPAP1 CL E G H40436701OMIM:615431Myopia 23, autosomal recessive4
HP:0000007HP:0000007Autosomal recessive inheritance0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0000007HP:0000007Autosomal recessive inheritance0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000007HP:0000007Autosomal recessive inheritance0LRRC56 CL E G H11539925430OMIM:618254CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000007HP:0000007Autosomal recessive inheritance0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia.1
HP:0000007HP:0000007Autosomal recessive inheritance0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0000007HP:0000007Autosomal recessive inheritance0LRTOMT CL E G H22007425033OMIM:611451Deafness, autosomal recessive 6378
HP:0000007HP:0000007Autosomal recessive inheritance0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000007HP:0000007Autosomal recessive inheritance0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000007HP:0000007Autosomal recessive inheritance0LSS CL E G H40476708OMIM:616509Cataract 44.2
HP:0000007HP:0000007Autosomal recessive inheritance0LSS CL E G H40476708OMIM:618275Hypotrichosis 14.2
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D.123
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP2 CL E G H40536715OMIM:600975Glaucoma 3, primary infantile, B.123
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature.12
HP:0000007HP:0000007Autosomal recessive inheritance0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000007HP:0000007Autosomal recessive inheritance0LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0000007HP:0000007Autosomal recessive inheritance0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 19.4
HP:0000007HP:0000007Autosomal recessive inheritance0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0000007HP:0000007Autosomal recessive inheritance0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000007HP:0000007Autosomal recessive inheritance0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0000007HP:0000007Autosomal recessive inheritance0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000007HP:0000007Autosomal recessive inheritance0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000007HP:0000007Autosomal recessive inheritance0M1AP CL E G H13095125183OMIM:619108SPERMATOGENIC FAILURE 48; SPGF48
HP:0000007HP:0000007Autosomal recessive inheritance0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000007HP:0000007Autosomal recessive inheritance0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0MAD2L2 CL E G H104596764OMIM:617243Fanconi anemia, complementation group V.1
HP:0000007HP:0000007Autosomal recessive inheritance0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000007HP:0000007Autosomal recessive inheritance0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000007HP:0000007Autosomal recessive inheritance0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0000007HP:0000007Autosomal recessive inheritance0MAGI2 CL E G H986318957OMIM:617609Nephrotic syndrome, type 15.59
HP:0000007HP:0000007Autosomal recessive inheritance0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 62.53
HP:0000007HP:0000007Autosomal recessive inheritance0MALT1 CL E G H108926819OMIM:615468Immunodeficiency 12.6
HP:0000007HP:0000007Autosomal recessive inheritance0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000007HP:0000007Autosomal recessive inheritance0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000007HP:0000007Autosomal recessive inheritance0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000007HP:0000007Autosomal recessive inheritance0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0000007HP:0000007Autosomal recessive inheritance0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0000007HP:0000007Autosomal recessive inheritance0MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly.2
HP:0000007HP:0000007Autosomal recessive inheritance0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0000007HP:0000007Autosomal recessive inheritance0MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 20.6
HP:0000007HP:0000007Autosomal recessive inheritance0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0000007HP:0000007Autosomal recessive inheritance0MARK3 CL E G H41406897OMIM:618283Visual impairment and progressive phthisis bulbi.
HP:0000007HP:0000007Autosomal recessive inheritance0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0000007HP:0000007Autosomal recessive inheritance0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000007HP:0000007Autosomal recessive inheritance0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0000007HP:0000007Autosomal recessive inheritance0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive.25
HP:0000007HP:0000007Autosomal recessive inheritance0MARVELD2 CL E G H15356226401OMIM:610153Deafness, autosomal recessive 49.61
HP:0000007HP:0000007Autosomal recessive inheritance0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000007HP:0000007Autosomal recessive inheritance0MASP2 CL E G H107476902OMIM:613791Masp2 deficiency.41
HP:0000007HP:0000007Autosomal recessive inheritance0MAT1A CL E G H41436903OMIM:250850METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY.82
HP:0000007HP:0000007Autosomal recessive inheritance0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0000007HP:0000007Autosomal recessive inheritance0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0000007HP:0000007Autosomal recessive inheritance0MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type.
HP:0000007HP:0000007Autosomal recessive inheritance0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0000007HP:0000007Autosomal recessive inheritance0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0000007HP:0000007Autosomal recessive inheritance0MC4R CL E G H41606932OMIM:618406BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ2054
HP:0000007HP:0000007Autosomal recessive inheritance0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0000007HP:0000007Autosomal recessive inheritance0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0000007HP:0000007Autosomal recessive inheritance0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency.19
HP:0000007HP:0000007Autosomal recessive inheritance0MCFD2 CL E G H9041118451OMIM:613625Factor V and factor VIII, combined deficiency of77
HP:0000007HP:0000007Autosomal recessive inheritance0MCIDAS CL E G H34564340050OMIM:618695CILIARY DYSKINESIA, PRIMARY, 42; CILD4213
HP:0000007HP:0000007Autosomal recessive inheritance0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000007HP:0000007Autosomal recessive inheritance0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0000007HP:0000007Autosomal recessive inheritance0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0000007HP:0000007Autosomal recessive inheritance0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0000007HP:0000007Autosomal recessive inheritance0MCM8 CL E G H8451516147OMIM:612885Premature ovarian failure 104
HP:0000007HP:0000007Autosomal recessive inheritance0MCM9 CL E G H25439421484OMIM:616185Ovarian dysgenesis 4.4
HP:0000007HP:0000007Autosomal recessive inheritance0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0000007HP:0000007Autosomal recessive inheritance0MCPH1 CL E G H796486954OMIM:251200Microcephaly, primary autosomal recessive, 1.155
HP:0000007HP:0000007Autosomal recessive inheritance0MDFIC CL E G H2996928870OMIM:620014
HP:0000007HP:0000007Autosomal recessive inheritance0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000007HP:0000007Autosomal recessive inheritance0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0000007HP:0000007Autosomal recessive inheritance0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0000007HP:0000007Autosomal recessive inheritance0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0000007HP:0000007Autosomal recessive inheritance0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0000007HP:0000007Autosomal recessive inheritance0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 18.25
HP:0000007HP:0000007Autosomal recessive inheritance0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0000007HP:0000007Autosomal recessive inheritance0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0000007HP:0000007Autosomal recessive inheritance0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000007HP:0000007Autosomal recessive inheritance0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0000007HP:0000007Autosomal recessive inheritance0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0000007HP:0000007Autosomal recessive inheritance0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000007HP:0000007Autosomal recessive inheritance0MEI1 CL E G H15036528613OMIM:618431Hydatidiform mole, recurrent, 3.
HP:0000007HP:0000007Autosomal recessive inheritance0MEIOB CL E G H25452828569OMIM:617706Spermatogenic failure 22.
HP:0000007HP:0000007Autosomal recessive inheritance0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0000007HP:0000007Autosomal recessive inheritance0MERTK CL E G H104617027OMIM:613862Retinitis pigmentosa 38.75
HP:0000007HP:0000007Autosomal recessive inheritance0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000007HP:0000007Autosomal recessive inheritance0MESP2 CL E G H14587329659OMIM:608681Spondylocostal dysostosis 2, autosomal recessive.45
HP:0000007HP:0000007Autosomal recessive inheritance0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0000007HP:0000007Autosomal recessive inheritance0MET CL E G H42337029OMIM:616705DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97375
HP:0000007HP:0000007Autosomal recessive inheritance0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44.13
HP:0000007HP:0000007Autosomal recessive inheritance0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000007HP:0000007Autosomal recessive inheritance0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0000007HP:0000007Autosomal recessive inheritance0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0000007HP:0000007Autosomal recessive inheritance0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0000007HP:0000007Autosomal recessive inheritance0MFRP CL E G H8355218121OMIM:609549Nanophthalmos 2.26
HP:0000007HP:0000007Autosomal recessive inheritance0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0000007HP:0000007Autosomal recessive inheritance0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0000007HP:0000007Autosomal recessive inheritance0MFSD8 CL E G H25647128486OMIM:616170Macular dystrophy with central cone involvement.120
HP:0000007HP:0000007Autosomal recessive inheritance0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000007HP:0000007Autosomal recessive inheritance0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000007HP:0000007Autosomal recessive inheritance0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000007HP:0000007Autosomal recessive inheritance0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000007HP:0000007Autosomal recessive inheritance0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000007HP:0000007Autosomal recessive inheritance0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000007HP:0000007Autosomal recessive inheritance0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0000007HP:0000007Autosomal recessive inheritance0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0000007HP:0000007Autosomal recessive inheritance0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0000007HP:0000007Autosomal recessive inheritance0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.91
HP:0000007HP:0000007Autosomal recessive inheritance0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 6.69
HP:0000007HP:0000007Autosomal recessive inheritance0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0000007HP:0000007Autosomal recessive inheritance0MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0000007HP:0000007Autosomal recessive inheritance0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000007HP:0000007Autosomal recessive inheritance0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000007HP:0000007Autosomal recessive inheritance0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0000007HP:0000007Autosomal recessive inheritance0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0000007HP:0000007Autosomal recessive inheritance0MLIP CL E G H9052321355OMIM:620138
HP:0000007HP:0000007Autosomal recessive inheritance0MLPH CL E G H7908329643OMIM:609227Griscelli syndrome, type 3.7
HP:0000007HP:0000007Autosomal recessive inheritance0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0000007HP:0000007Autosomal recessive inheritance0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0000007HP:0000007Autosomal recessive inheritance0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0000007HP:0000007Autosomal recessive inheritance0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0000007HP:0000007Autosomal recessive inheritance0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0000007HP:0000007Autosomal recessive inheritance0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0000007HP:0000007Autosomal recessive inheritance0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0000007HP:0000007Autosomal recessive inheritance0MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0000007HP:0000007Autosomal recessive inheritance0MMP14 CL E G H43237160OMIM:277950Winchester syndrome2
HP:0000007HP:0000007Autosomal recessive inheritance0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0000007HP:0000007Autosomal recessive inheritance0MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia2.37
HP:0000007HP:0000007Autosomal recessive inheritance0MMP21 CL E G H11885614357OMIM:616749Heterotaxy, visceral, 7, autosomal3
HP:0000007HP:0000007Autosomal recessive inheritance0MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0000007HP:0000007Autosomal recessive inheritance0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000007HP:0000007Autosomal recessive inheritance0MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type II.4
HP:0000007HP:0000007Autosomal recessive inheritance0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0000007HP:0000007Autosomal recessive inheritance0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0000007HP:0000007Autosomal recessive inheritance0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0000007HP:0000007Autosomal recessive inheritance0MOV10L1 CL E G H544567201OMIM:619878
HP:0000007HP:0000007Autosomal recessive inheritance0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0000007HP:0000007Autosomal recessive inheritance0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0000007HP:0000007Autosomal recessive inheritance0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0000007HP:0000007Autosomal recessive inheritance0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0000007HP:0000007Autosomal recessive inheritance0MPIG6B CL E G H8073913937OMIM:617441Thrombocytopenia, anemia, and myelofibrosis.1
HP:0000007HP:0000007Autosomal recessive inheritance0MPL CL E G H43527217OMIM:604498Amegakaryocytic thrombocytopenia, congenital.97
HP:0000007HP:0000007Autosomal recessive inheritance0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0000007HP:0000007Autosomal recessive inheritance0MPO CL E G H43537218OMIM:254600Myeloperoxidase deficiency.11
HP:0000007HP:0000007Autosomal recessive inheritance0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0000007HP:0000007Autosomal recessive inheritance0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0000007HP:0000007Autosomal recessive inheritance0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0000007HP:0000007Autosomal recessive inheritance0MPZL2 CL E G H102053496OMIM:618145Deafness, autosomal recessive 111.
HP:0000007HP:0000007Autosomal recessive inheritance0MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 2.26
HP:0000007HP:0000007Autosomal recessive inheritance0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0000007HP:0000007Autosomal recessive inheritance0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0000007HP:0000007Autosomal recessive inheritance0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0000007HP:0000007Autosomal recessive inheritance0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0000007HP:0000007Autosomal recessive inheritance0MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 16.13
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS22 CL E G H5694514508OMIM:618117Ovarian dysgenesis 7.25
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0000007HP:0000007Autosomal recessive inheritance0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0000007HP:0000007Autosomal recessive inheritance0MRTFA CL E G H5759114334OMIM:618847IMMUNODEFICIENCY 66; IMD66
HP:0000007HP:0000007Autosomal recessive inheritance0MS4A1 CL E G H9317315OMIM:613495Immunodeficiency, common variable, 51
HP:0000007HP:0000007Autosomal recessive inheritance0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0000007HP:0000007Autosomal recessive inheritance0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 4.5
HP:0000007HP:0000007Autosomal recessive inheritance0MSH4 CL E G H44387327OMIM:619938
HP:0000007HP:0000007Autosomal recessive inheritance0MSH4 CL E G H44387327OMIM:108420Spermatogenic failure 2
HP:0000007HP:0000007Autosomal recessive inheritance0MSH5 CL E G H44397328OMIM:6199375
HP:0000007HP:0000007Autosomal recessive inheritance0MSH5 CL E G H44397328OMIM:617442Premature ovarian failure 13.5
HP:0000007HP:0000007Autosomal recessive inheritance0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000007HP:0000007Autosomal recessive inheritance0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0000007HP:0000007Autosomal recessive inheritance0MSRB3 CL E G H25382727375OMIM:613718Deafness, autosomal recessive 74.16
HP:0000007HP:0000007Autosomal recessive inheritance0MSTN CL E G H26604223OMIM:614160MUSCLE HYPERTROPHY; MSLHP34
HP:0000007HP:0000007Autosomal recessive inheritance0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000007HP:0000007Autosomal recessive inheritance0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15.29
HP:0000007HP:0000007Autosomal recessive inheritance0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 27.29
HP:0000007HP:0000007Autosomal recessive inheritance0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0000007HP:0000007Autosomal recessive inheritance0MTHFD1 CL E G H45227432OMIM:601634Neural tube defects, folate-sensitive.5
HP:0000007HP:0000007Autosomal recessive inheritance0MTHFR CL E G H45247436OMIM:236250Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity183
HP:0000007HP:0000007Autosomal recessive inheritance0MTHFR CL E G H45247436OMIM:601634Neural tube defects, folate-sensitive.183
HP:0000007HP:0000007Autosomal recessive inheritance0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0000007HP:0000007Autosomal recessive inheritance0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0000007HP:0000007Autosomal recessive inheritance0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0000007HP:0000007Autosomal recessive inheritance0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0000007HP:0000007Autosomal recessive inheritance0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0000007HP:0000007Autosomal recessive inheritance0MTR CL E G H45487468OMIM:601634Neural tube defects, folate-sensitive.217
HP:0000007HP:0000007Autosomal recessive inheritance0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0000007HP:0000007Autosomal recessive inheritance0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0000007HP:0000007Autosomal recessive inheritance0MTRR CL E G H45527473OMIM:601634Neural tube defects, folate-sensitive.88
HP:0000007HP:0000007Autosomal recessive inheritance0MTTP CL E G H45477467OMIM:200100ABETALIPOPROTEINEMIA.81
HP:0000007HP:0000007Autosomal recessive inheritance0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000007HP:0000007Autosomal recessive inheritance0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000007HP:0000007Autosomal recessive inheritance0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0000007HP:0000007Autosomal recessive inheritance0MUTYH CL E G H45957527OMIM:608456Familial adenomatous polyposis, 2.592
HP:0000007HP:0000007Autosomal recessive inheritance0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0000007HP:0000007Autosomal recessive inheritance0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000007HP:0000007Autosomal recessive inheritance0MYBPC1 CL E G H46047549OMIM:614915Lethal congenital contracture syndrome 4.66
HP:0000007HP:0000007Autosomal recessive inheritance0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0000007HP:0000007Autosomal recessive inheritance0MYD88 CL E G H46157562OMIM:612260MYD88 DEFICIENCY; MYD88D9
HP:0000007HP:0000007Autosomal recessive inheritance0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0000007HP:0000007Autosomal recessive inheritance0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0000007HP:0000007Autosomal recessive inheritance0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia.105
HP:0000007HP:0000007Autosomal recessive inheritance0MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0000007HP:0000007Autosomal recessive inheritance0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000007HP:0000007Autosomal recessive inheritance0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive.1269
HP:0000007HP:0000007Autosomal recessive inheritance0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0000007HP:0000007Autosomal recessive inheritance0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000007HP:0000007Autosomal recessive inheritance0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0000007HP:0000007Autosomal recessive inheritance0MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 8.95
HP:0000007HP:0000007Autosomal recessive inheritance0MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0000007HP:0000007Autosomal recessive inheritance0MYLK CL E G H46387590OMIM:249210MOVED TO 155310326
HP:0000007HP:0000007Autosomal recessive inheritance0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0MYMX CL E G H10192972652391OMIM:619941
HP:0000007HP:0000007Autosomal recessive inheritance0MYO15A CL E G H511687594OMIM:600316Deafness, neurosensory, autosomal recessive 3.387
HP:0000007HP:0000007Autosomal recessive inheritance0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000007HP:0000007Autosomal recessive inheritance0MYO1E CL E G H46437599OMIM:614131Focal segmental glomerulosclerosis 6.3
HP:0000007HP:0000007Autosomal recessive inheritance0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000007HP:0000007Autosomal recessive inheritance0MYO3A CL E G H539047601OMIM:607101Deafness, autosomal recessive 30168
HP:0000007HP:0000007Autosomal recessive inheritance0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0000007HP:0000007Autosomal recessive inheritance0MYO5B CL E G H46457603OMIM:619868192
HP:0000007HP:0000007Autosomal recessive inheritance0MYO5B CL E G H46457603OMIM:251850Diarrhea 2, with microvillous atrophy.192
HP:0000007HP:0000007Autosomal recessive inheritance0MYO6 CL E G H46467605OMIM:607821Deafness, autosomal recessive 37.179
HP:0000007HP:0000007Autosomal recessive inheritance0MYO7A CL E G H46477606OMIM:600060Deafness, neurosensory, autosomal recessive 2.516
HP:0000007HP:0000007Autosomal recessive inheritance0MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I.516
HP:0000007HP:0000007Autosomal recessive inheritance0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0000007HP:0000007Autosomal recessive inheritance0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000007HP:0000007Autosomal recessive inheritance0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive.217
HP:0000007HP:0000007Autosomal recessive inheritance0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4.
HP:0000007HP:0000007Autosomal recessive inheritance0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000007HP:0000007Autosomal recessive inheritance0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0000007HP:0000007Autosomal recessive inheritance0NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000007HP:0000007Autosomal recessive inheritance0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000007HP:0000007Autosomal recessive inheritance0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0000007HP:0000007Autosomal recessive inheritance0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0000007HP:0000007Autosomal recessive inheritance0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY.36
HP:0000007HP:0000007Autosomal recessive inheritance0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000007HP:0000007Autosomal recessive inheritance0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0000007HP:0000007Autosomal recessive inheritance0NAPB CL E G H6390815751OMIM:6200332
HP:0000007HP:0000007Autosomal recessive inheritance0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0000007HP:0000007Autosomal recessive inheritance0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0000007HP:0000007Autosomal recessive inheritance0NARS2 CL E G H7973126274OMIM:618434Deafness, autosomal recessive 9434
HP:0000007HP:0000007Autosomal recessive inheritance0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0000007HP:0000007Autosomal recessive inheritance0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0000007HP:0000007Autosomal recessive inheritance0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0000007HP:0000007Autosomal recessive inheritance0NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0000007HP:0000007Autosomal recessive inheritance0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000007HP:0000007Autosomal recessive inheritance0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome127
HP:0000007HP:0000007Autosomal recessive inheritance0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000007HP:0000007Autosomal recessive inheritance0NCAPD2 CL E G H991824305OMIM:617983Microcephaly 21, primary, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0NCAPD3 CL E G H2331028952OMIM:617984Microcephaly 22, primary, autosomal recessive.1
HP:0000007HP:0000007Autosomal recessive inheritance0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0NCAPH CL E G H233971112OMIM:617985Microcephaly 23, primary, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0000007HP:0000007Autosomal recessive inheritance0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0000007HP:0000007Autosomal recessive inheritance0NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive.37
HP:0000007HP:0000007Autosomal recessive inheritance0NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000007HP:0000007Autosomal recessive inheritance0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 4.96
HP:0000007HP:0000007Autosomal recessive inheritance0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0000007HP:0000007Autosomal recessive inheritance0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0000007HP:0000007Autosomal recessive inheritance0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA10 CL E G H47057684OMIM:618243Mitochondrial complex I deficiency, nuclear type 22.91
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 14.32
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 23.7
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 13.19
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFB7 CL E G H47137702OMIM:620135
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFB8 CL E G H47147703OMIM:618252Mitochondrial complex I deficiency, nuclear type 32.
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 24.16
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS6 CL E G H47267713OMIM:618232Mitochondrial complex I deficiency, nuclear type 9.21
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0000007HP:0000007Autosomal recessive inheritance0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0000007HP:0000007Autosomal recessive inheritance0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0000007HP:0000007Autosomal recessive inheritance0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0000007HP:0000007Autosomal recessive inheritance0NECAP1 CL E G H2597724539OMIM:615833Epileptic encephalopathy, early infantile, 21.1
HP:0000007HP:0000007Autosomal recessive inheritance0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0000007HP:0000007Autosomal recessive inheritance0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0000007HP:0000007Autosomal recessive inheritance0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0000007HP:0000007Autosomal recessive inheritance0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0000007HP:0000007Autosomal recessive inheritance0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0000007HP:0000007Autosomal recessive inheritance0NEK10 CL E G H15211018592OMIM:618781CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000007HP:0000007Autosomal recessive inheritance0NEK2 CL E G H47517745OMIM:615565Retinitis pigmentosa 67.5
HP:0000007HP:0000007Autosomal recessive inheritance0NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000007HP:0000007Autosomal recessive inheritance0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2.43
HP:0000007HP:0000007Autosomal recessive inheritance0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy.9
HP:0000007HP:0000007Autosomal recessive inheritance0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000007HP:0000007Autosomal recessive inheritance0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0000007HP:0000007Autosomal recessive inheritance0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000007HP:0000007Autosomal recessive inheritance0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0000007HP:0000007Autosomal recessive inheritance0NEUROG3 CL E G H5067413806OMIM:610370Diarrhea 4, malabsorptive, congenital.5
HP:0000007HP:0000007Autosomal recessive inheritance0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0000007HP:0000007Autosomal recessive inheritance0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0000007HP:0000007Autosomal recessive inheritance0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0000007HP:0000007Autosomal recessive inheritance0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0000007HP:0000007Autosomal recessive inheritance0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000007HP:0000007Autosomal recessive inheritance0NHLH2 CL E G H48087818OMIM:619755HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0000007HP:0000007Autosomal recessive inheritance0NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora.77
HP:0000007HP:0000007Autosomal recessive inheritance0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0000007HP:0000007Autosomal recessive inheritance0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0000007HP:0000007Autosomal recessive inheritance0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2.27
HP:0000007HP:0000007Autosomal recessive inheritance0NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0000007HP:0000007Autosomal recessive inheritance0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0000007HP:0000007Autosomal recessive inheritance0NKX2-5 CL E G H14822488OMIM:217095Conotruncal heart malformations.90
HP:0000007HP:0000007Autosomal recessive inheritance0NKX2-6 CL E G H13781432940OMIM:217095Conotruncal heart malformations.3
HP:0000007HP:0000007Autosomal recessive inheritance0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0000007HP:0000007Autosomal recessive inheritance0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0000007HP:0000007Autosomal recessive inheritance0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000007HP:0000007Autosomal recessive inheritance0NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0000007HP:0000007Autosomal recessive inheritance0NLRP7 CL E G H19971322947OMIM:231090Hydatidiform mole, recurrent, 1.171
HP:0000007HP:0000007Autosomal recessive inheritance0NME5 CL E G H83827853OMIM:620032
HP:0000007HP:0000007Autosomal recessive inheritance0NME8 CL E G H5131416473OMIM:610852Ciliary dyskinesia, primary, 6.50
HP:0000007HP:0000007Autosomal recessive inheritance0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9.15
HP:0000007HP:0000007Autosomal recessive inheritance0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000007HP:0000007Autosomal recessive inheritance0NNT CL E G H235307863OMIM:614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.13
HP:0000007HP:0000007Autosomal recessive inheritance0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0000007HP:0000007Autosomal recessive inheritance0NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0000007HP:0000007Autosomal recessive inheritance0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0000007HP:0000007Autosomal recessive inheritance0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 185
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 1.85
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3.157
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4.220
HP:0000007HP:0000007Autosomal recessive inheritance0NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4.220
HP:0000007HP:0000007Autosomal recessive inheritance0NPHS1 CL E G H48687908OMIM:256300Nephrotic syndrome, type 1.241
HP:0000007HP:0000007Autosomal recessive inheritance0NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 2.69
HP:0000007HP:0000007Autosomal recessive inheritance0NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0000007HP:0000007Autosomal recessive inheritance0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0000007HP:0000007Autosomal recessive inheritance0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000007HP:0000007Autosomal recessive inheritance0NR0B2 CL E G H84317961OMIM:601665OBESITY.4
HP:0000007HP:0000007Autosomal recessive inheritance0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0000007HP:0000007Autosomal recessive inheritance0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome.58
HP:0000007HP:0000007Autosomal recessive inheritance0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000007HP:0000007Autosomal recessive inheritance0NRCAM CL E G H48977994OMIM:6198332
HP:0000007HP:0000007Autosomal recessive inheritance0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0000007HP:0000007Autosomal recessive inheritance0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0000007HP:0000007Autosomal recessive inheritance0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0000007HP:0000007Autosomal recessive inheritance0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000007HP:0000007Autosomal recessive inheritance0NSRP1 CL E G H8408125305OMIM:620001
HP:0000007HP:0000007Autosomal recessive inheritance0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000007HP:0000007Autosomal recessive inheritance0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000007HP:0000007Autosomal recessive inheritance0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0000007HP:0000007Autosomal recessive inheritance0NT5C3A CL E G H5125117820OMIM:266120Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to.10
HP:0000007HP:0000007Autosomal recessive inheritance0NT5E CL E G H49078021OMIM:211800Calcification of joints and arteries.3
HP:0000007HP:0000007Autosomal recessive inheritance0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 3.2
HP:0000007HP:0000007Autosomal recessive inheritance0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000007HP:0000007Autosomal recessive inheritance0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0000007HP:0000007Autosomal recessive inheritance0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0000007HP:0000007Autosomal recessive inheritance0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0000007HP:0000007Autosomal recessive inheritance0NUDT2 CL E G H3188049OMIM:619844
HP:0000007HP:0000007Autosomal recessive inheritance0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 7.5
HP:0000007HP:0000007Autosomal recessive inheritance0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0000007HP:0000007Autosomal recessive inheritance0NUP107 CL E G H5712229914OMIM:618078Ovarian dysgenesis 6.5
HP:0000007HP:0000007Autosomal recessive inheritance0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0000007HP:0000007Autosomal recessive inheritance0NUP133 CL E G H5574618016OMIM:618177NEPHROTIC SYNDROME, TYPE 18; NPHS181
HP:0000007HP:0000007Autosomal recessive inheritance0NUP155 CL E G H96318063OMIM:615770Atrial fibrillation, familial, 15.1
HP:0000007HP:0000007Autosomal recessive inheritance0NUP160 CL E G H2327918017OMIM:618178Nephrotic syndrome, type 19.
HP:0000007HP:0000007Autosomal recessive inheritance0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000007HP:0000007Autosomal recessive inheritance0NUP205 CL E G H2316518658OMIM:616893NEPHROTIC SYNDROME, TYPE 13; NPHS131
HP:0000007HP:0000007Autosomal recessive inheritance0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0000007HP:0000007Autosomal recessive inheritance0NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0000007HP:0000007Autosomal recessive inheritance0NUP85 CL E G H799028734OMIM:618176Nephrotic syndrome, type 17.
HP:0000007HP:0000007Autosomal recessive inheritance0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0000007HP:0000007Autosomal recessive inheritance0NUP93 CL E G H968828958OMIM:616892Nephrotic syndrome, type 125
HP:0000007HP:0000007Autosomal recessive inheritance0NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA.1
HP:0000007HP:0000007Autosomal recessive inheritance0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000007HP:0000007Autosomal recessive inheritance0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0000007HP:0000007Autosomal recessive inheritance0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2.143
HP:0000007HP:0000007Autosomal recessive inheritance0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0000007HP:0000007Autosomal recessive inheritance0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0000007HP:0000007Autosomal recessive inheritance0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0000007HP:0000007Autosomal recessive inheritance0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000007HP:0000007Autosomal recessive inheritance0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0000007HP:0000007Autosomal recessive inheritance0ODAD4 CL E G H8353825280OMIM:617092Ciliary dyskinesia, primary, 35.
HP:0000007HP:0000007Autosomal recessive inheritance0ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:0000007HP:0000007Autosomal recessive inheritance0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000007HP:0000007Autosomal recessive inheritance0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0000007HP:0000007Autosomal recessive inheritance0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0000007HP:0000007Autosomal recessive inheritance0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III163
HP:0000007HP:0000007Autosomal recessive inheritance0OPLAH CL E G H268738149OMIM:2600055-@oxoprolinase deficiency.5
HP:0000007HP:0000007Autosomal recessive inheritance0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0000007HP:0000007Autosomal recessive inheritance0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0000007HP:0000007Autosomal recessive inheritance0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000007HP:0000007Autosomal recessive inheritance0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0000007HP:0000007Autosomal recessive inheritance0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000007HP:0000007Autosomal recessive inheritance0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000007HP:0000007Autosomal recessive inheritance0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0000007HP:0000007Autosomal recessive inheritance0OTOA CL E G H14618316378OMIM:607039Deafness, autosomal recessive 22.58
HP:0000007HP:0000007Autosomal recessive inheritance0OTOF CL E G H93818515OMIM:601071Deafness, autosomal recessive 9383
HP:0000007HP:0000007Autosomal recessive inheritance0OTOG CL E G H3409908516OMIM:614945Deafness, autosomal recessive 18B.165
HP:0000007HP:0000007Autosomal recessive inheritance0OTOGL CL E G H28331026901OMIM:614944Deafness, autosomal recessive 84B.105
HP:0000007HP:0000007Autosomal recessive inheritance0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000007HP:0000007Autosomal recessive inheritance0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0000007HP:0000007Autosomal recessive inheritance0OXCT1 CL E G H50198527OMIM:245050Succinyl CoA:3-oxoacid CoA transferase deficiency52
HP:0000007HP:0000007Autosomal recessive inheritance0OXR1 CL E G H5507415822OMIM:213000Cerebellar hypoplasia.1
HP:0000007HP:0000007Autosomal recessive inheritance0P2RY12 CL E G H6480518124OMIM:609821Bleeding disorder, platelet-type, 85
HP:0000007HP:0000007Autosomal recessive inheritance0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0000007HP:0000007Autosomal recessive inheritance0P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degeneration.5
HP:0000007HP:0000007Autosomal recessive inheritance0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000007HP:0000007Autosomal recessive inheritance0PADI3 CL E G H5170218337OMIM:191480UNCOMBABLE HAIR SYNDROME 1; UHS13
HP:0000007HP:0000007Autosomal recessive inheritance0PADI6 CL E G H35323820449OMIM:617234Preimplantation embryonic lethality 25
HP:0000007HP:0000007Autosomal recessive inheritance0PAICS CL E G H106068587OMIM:619859
HP:0000007HP:0000007Autosomal recessive inheritance0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0000007HP:0000007Autosomal recessive inheritance0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0000007HP:0000007Autosomal recessive inheritance0PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration.55
HP:0000007HP:0000007Autosomal recessive inheritance0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0000007HP:0000007Autosomal recessive inheritance0PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0000007HP:0000007Autosomal recessive inheritance0PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes.20
HP:0000007HP:0000007Autosomal recessive inheritance0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0000007HP:0000007Autosomal recessive inheritance0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0000007HP:0000007Autosomal recessive inheritance0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000007HP:0000007Autosomal recessive inheritance0PATL2 CL E G H19713533630OMIM:617743Oocyte maturation defect 4.
HP:0000007HP:0000007Autosomal recessive inheritance0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000007HP:0000007Autosomal recessive inheritance0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000007HP:0000007Autosomal recessive inheritance0PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone.55
HP:0000007HP:0000007Autosomal recessive inheritance0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000007HP:0000007Autosomal recessive inheritance0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0000007HP:0000007Autosomal recessive inheritance0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0000007HP:0000007Autosomal recessive inheritance0PCBD1 CL E G H50928646OMIM:264070Hyperphenylalaninemia, BH4-deficient, D24
HP:0000007HP:0000007Autosomal recessive inheritance0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0000007HP:0000007Autosomal recessive inheritance0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0000007HP:0000007Autosomal recessive inheritance0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications.
HP:0000007HP:0000007Autosomal recessive inheritance0PCDH15 CL E G H6521714674OMIM:609533Deafness, autosomal recessive 23.352
HP:0000007HP:0000007Autosomal recessive inheritance0PCDH15 CL E G H6521714674OMIM:601067Usher syndrome, type ID.352
HP:0000007HP:0000007Autosomal recessive inheritance0PCDH15 CL E G H6521714674OMIM:602083Usher syndrome, type IF.352
HP:0000007HP:0000007Autosomal recessive inheritance0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0000007HP:0000007Autosomal recessive inheritance0PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial.6
HP:0000007HP:0000007Autosomal recessive inheritance0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000007HP:0000007Autosomal recessive inheritance0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0000007HP:0000007Autosomal recessive inheritance0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000007HP:0000007Autosomal recessive inheritance0PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency.65
HP:0000007HP:0000007Autosomal recessive inheritance0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0000007HP:0000007Autosomal recessive inheritance0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000007HP:0000007Autosomal recessive inheritance0PDCD6IP CL E G H100158766OMIM:620047
HP:0000007HP:0000007Autosomal recessive inheritance0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0000007HP:0000007Autosomal recessive inheritance0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40.126
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6C CL E G H51468787OMIM:613093Cone dystrophy 4.80
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6G CL E G H51488789OMIM:268000Retinitis pigmentosa.18
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 57.18
HP:0000007HP:0000007Autosomal recessive inheritance0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A.14
HP:0000007HP:0000007Autosomal recessive inheritance0PDHA2 CL E G H51618807OMIM:619828SPERMATOGENIC FAILURE 70; SPGF70
HP:0000007HP:0000007Autosomal recessive inheritance0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0000007HP:0000007Autosomal recessive inheritance0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0000007HP:0000007Autosomal recessive inheritance0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0000007HP:0000007Autosomal recessive inheritance0PDSS1 CL E G H2359017759OMIM:614651Coenzyme Q10 deficiency, primary, 2.40
HP:0000007HP:0000007Autosomal recessive inheritance0PDSS2 CL E G H5710723041OMIM:614652Coenzyme Q10 deficiency, primary, 3.54
HP:0000007HP:0000007Autosomal recessive inheritance0PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital.30
HP:0000007HP:0000007Autosomal recessive inheritance0PDXK CL E G H85668819OMIM:618511Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy.
HP:0000007HP:0000007Autosomal recessive inheritance0PDZD7 CL E G H7995526257OMIM:618003DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB5740
HP:0000007HP:0000007Autosomal recessive inheritance0PDZD7 CL E G H7995526257OMIM:276901Usher syndrome, type IIA.40
HP:0000007HP:0000007Autosomal recessive inheritance0PDZD7 CL E G H7995526257OMIM:605472Usher syndrome, type IIC.40
HP:0000007HP:0000007Autosomal recessive inheritance0PDZD8 CL E G H11898726974OMIM:620021
HP:0000007HP:0000007Autosomal recessive inheritance0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000007HP:0000007Autosomal recessive inheritance0PERCC1 CL E G H10537104552293OMIM:618662DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11
HP:0000007HP:0000007Autosomal recessive inheritance0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000007HP:0000007Autosomal recessive inheritance0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0000007HP:0000007Autosomal recessive inheritance0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0000007HP:0000007Autosomal recessive inheritance0PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1.169
HP:0000007HP:0000007Autosomal recessive inheritance0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000007HP:0000007Autosomal recessive inheritance0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0000007HP:0000007Autosomal recessive inheritance0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0000007HP:0000007Autosomal recessive inheritance0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0000007HP:0000007Autosomal recessive inheritance0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0000007HP:0000007Autosomal recessive inheritance0PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger).65
HP:0000007HP:0000007Autosomal recessive inheritance0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0000007HP:0000007Autosomal recessive inheritance0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0000007HP:0000007Autosomal recessive inheritance0PEX13 CL E G H51948855OMIM:614885Peroxisome biogenesis disorder 11B.66
HP:0000007HP:0000007Autosomal recessive inheritance0PEX14 CL E G H51958856OMIM:614887Peroxisome biogenesis disorder 13A (Zellweger).46
HP:0000007HP:0000007Autosomal recessive inheritance0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0000007HP:0000007Autosomal recessive inheritance0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0000007HP:0000007Autosomal recessive inheritance0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger).62
HP:0000007HP:0000007Autosomal recessive inheritance0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000007HP:0000007Autosomal recessive inheritance0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0000007HP:0000007Autosomal recessive inheritance0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0000007HP:0000007Autosomal recessive inheritance0PEX26 CL E G H5567022965OMIM:614873Peroxisome biogenesis disorder 7B.106
HP:0000007HP:0000007Autosomal recessive inheritance0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0000007HP:0000007Autosomal recessive inheritance0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B.47
HP:0000007HP:0000007Autosomal recessive inheritance0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000007HP:0000007Autosomal recessive inheritance0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000007HP:0000007Autosomal recessive inheritance0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0000007HP:0000007Autosomal recessive inheritance0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 2.98
HP:0000007HP:0000007Autosomal recessive inheritance0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0000007HP:0000007Autosomal recessive inheritance0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000007HP:0000007Autosomal recessive inheritance0PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B.72
HP:0000007HP:0000007Autosomal recessive inheritance0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0000007HP:0000007Autosomal recessive inheritance0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0000007HP:0000007Autosomal recessive inheritance0PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII.64
HP:0000007HP:0000007Autosomal recessive inheritance0PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of.26
HP:0000007HP:0000007Autosomal recessive inheritance0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000007HP:0000007Autosomal recessive inheritance0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0000007HP:0000007Autosomal recessive inheritance0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0000007HP:0000007Autosomal recessive inheritance0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000007HP:0000007Autosomal recessive inheritance0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0000007HP:0000007Autosomal recessive inheritance0PGR CL E G H52418910OMIM:264080Progesterone resistance.
HP:0000007HP:0000007Autosomal recessive inheritance0PHC1 CL E G H19113182OMIM:615414Microcephaly 11, primary, autosomal recessive.16
HP:0000007HP:0000007Autosomal recessive inheritance0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0000007HP:0000007Autosomal recessive inheritance0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0000007HP:0000007Autosomal recessive inheritance0PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb.101
HP:0000007HP:0000007Autosomal recessive inheritance0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0000007HP:0000007Autosomal recessive inheritance0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0000007HP:0000007Autosomal recessive inheritance0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0000007HP:0000007Autosomal recessive inheritance0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000007HP:0000007Autosomal recessive inheritance0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.11
HP:0000007HP:0000007Autosomal recessive inheritance0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0000007HP:0000007Autosomal recessive inheritance0PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 33.4
HP:0000007HP:0000007Autosomal recessive inheritance0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000007HP:0000007Autosomal recessive inheritance0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0000007HP:0000007Autosomal recessive inheritance0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0000007HP:0000007Autosomal recessive inheritance0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000007HP:0000007Autosomal recessive inheritance0PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 16.1
HP:0000007HP:0000007Autosomal recessive inheritance0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000007HP:0000007Autosomal recessive inheritance0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0000007HP:0000007Autosomal recessive inheritance0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 17.1
HP:0000007HP:0000007Autosomal recessive inheritance0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000007HP:0000007Autosomal recessive inheritance0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000007HP:0000007Autosomal recessive inheritance0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency.6
HP:0000007HP:0000007Autosomal recessive inheritance0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000007HP:0000007Autosomal recessive inheritance0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0000007HP:0000007Autosomal recessive inheritance0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0000007HP:0000007Autosomal recessive inheritance0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000007HP:0000007Autosomal recessive inheritance0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000007HP:0000007Autosomal recessive inheritance0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000007HP:0000007Autosomal recessive inheritance0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000007HP:0000007Autosomal recessive inheritance0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000007HP:0000007Autosomal recessive inheritance0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0000007HP:0000007Autosomal recessive inheritance0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0000007HP:0000007Autosomal recessive inheritance0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000007HP:0000007Autosomal recessive inheritance0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0000007HP:0000007Autosomal recessive inheritance0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0000007HP:0000007Autosomal recessive inheritance0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0000007HP:0000007Autosomal recessive inheritance0PIK3R1 CL E G H52958979OMIM:615214Agammaglobulinemia 7, autosomal recessive.43
HP:0000007HP:0000007Autosomal recessive inheritance0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0000007HP:0000007Autosomal recessive inheritance0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0000007HP:0000007Autosomal recessive inheritance0PIP5K1C CL E G H233968996OMIM:611369Lethal congenital contracture syndrome 31
HP:0000007HP:0000007Autosomal recessive inheritance0PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0000007HP:0000007Autosomal recessive inheritance0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0000007HP:0000007Autosomal recessive inheritance0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0000007HP:0000007Autosomal recessive inheritance0PJVK CL E G H49451329502OMIM:610220Deafness, autosomal recessive 59.45
HP:0000007HP:0000007Autosomal recessive inheritance0PKD1L1 CL E G H16850718053OMIM:617205Heterotaxy, visceral, 8, autosomal.3
HP:0000007HP:0000007Autosomal recessive inheritance0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000007HP:0000007Autosomal recessive inheritance0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0000007HP:0000007Autosomal recessive inheritance0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells.51
HP:0000007HP:0000007Autosomal recessive inheritance0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0000007HP:0000007Autosomal recessive inheritance0PLA2G4A CL E G H53219035OMIM:618372GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP2
HP:0000007HP:0000007Autosomal recessive inheritance0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0000007HP:0000007Autosomal recessive inheritance0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000007HP:0000007Autosomal recessive inheritance0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0000007HP:0000007Autosomal recessive inheritance0PLA2G7 CL E G H79419040OMIM:614278Platelet-Activating factor acetylhydrolase deficiency.5
HP:0000007HP:0000007Autosomal recessive inheritance0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0000007HP:0000007Autosomal recessive inheritance0PLCB1 CL E G H2323615917OMIM:613722Epileptic encephalopathy, early infantile, 12.119
HP:0000007HP:0000007Autosomal recessive inheritance0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000007HP:0000007Autosomal recessive inheritance0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000007HP:0000007Autosomal recessive inheritance0PLCD1 CL E G H53339060OMIM:151600Nail disorder, nonsyndromic congenital, 3.5
HP:0000007HP:0000007Autosomal recessive inheritance0PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3.118
HP:0000007HP:0000007Autosomal recessive inheritance0PLCH1 CL E G H2300729185OMIM:619895
HP:0000007HP:0000007Autosomal recessive inheritance0PLCZ1 CL E G H8986919218OMIM:617214Spermatogenic failure 17.1
HP:0000007HP:0000007Autosomal recessive inheritance0PLD1 CL E G H53379067OMIM:212093Cardiac valvular defect, developmental.4
HP:0000007HP:0000007Autosomal recessive inheritance0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0000007HP:0000007Autosomal recessive inheritance0PLEC CL E G H53399069OMIM:616487Epidermolysis bullosa simplex with nail dystrophy.759
HP:0000007HP:0000007Autosomal recessive inheritance0PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia.759
HP:0000007HP:0000007Autosomal recessive inheritance0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0000007HP:0000007Autosomal recessive inheritance0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0000007HP:0000007Autosomal recessive inheritance0PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia3
HP:0000007HP:0000007Autosomal recessive inheritance0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C.186
HP:0000007HP:0000007Autosomal recessive inheritance0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0000007HP:0000007Autosomal recessive inheritance0PLEKHM1 CL E G H984229017OMIM:611497OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB62
HP:0000007HP:0000007Autosomal recessive inheritance0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0000007HP:0000007Autosomal recessive inheritance0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0000007HP:0000007Autosomal recessive inheritance0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000007HP:0000007Autosomal recessive inheritance0PLOD2 CL E G H53529082OMIM:609220Bruck syndrome 2.45
HP:0000007HP:0000007Autosomal recessive inheritance0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0000007HP:0000007Autosomal recessive inheritance0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.6
HP:0000007HP:0000007Autosomal recessive inheritance0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0000007HP:0000007Autosomal recessive inheritance0PLXNA1 CL E G H53619099OMIM:619955
HP:0000007HP:0000007Autosomal recessive inheritance0PMFBP1 CL E G H8344917728OMIM:618112SPERMATOGENIC FAILURE 31; SPGF31
HP:0000007HP:0000007Autosomal recessive inheritance0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000007HP:0000007Autosomal recessive inheritance0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0000007HP:0000007Autosomal recessive inheritance0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0000007HP:0000007Autosomal recessive inheritance0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0000007HP:0000007Autosomal recessive inheritance0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0000007HP:0000007Autosomal recessive inheritance0PNKP CL E G H112849154OMIM:616267Ataxia-Oculomotor apraxia 4.244
HP:0000007HP:0000007Autosomal recessive inheritance0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0000007HP:0000007Autosomal recessive inheritance0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0000007HP:0000007Autosomal recessive inheritance0PNLDC1 CL E G H15419721185OMIM:619528SPERMATOGENIC FAILURE 57; SPGF57
HP:0000007HP:0000007Autosomal recessive inheritance0PNLIP CL E G H54069155OMIM:614338Pancreatic lipase deficiency.2
HP:0000007HP:0000007Autosomal recessive inheritance0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA6 CL E G H1090816268OMIM:245800Laurence-Moon syndrome.103
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0000007HP:0000007Autosomal recessive inheritance0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0000007HP:0000007Autosomal recessive inheritance0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0000007HP:0000007Autosomal recessive inheritance0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0000007HP:0000007Autosomal recessive inheritance0PNPT1 CL E G H8717823166OMIM:614934DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB7060
HP:0000007HP:0000007Autosomal recessive inheritance0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0000007HP:0000007Autosomal recessive inheritance0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 20.3
HP:0000007HP:0000007Autosomal recessive inheritance0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0000007HP:0000007Autosomal recessive inheritance0POLE CL E G H54269177OMIM:615139Facial dysmorphism, immunodeficiency, livedo, and short stature.1129
HP:0000007HP:0000007Autosomal recessive inheritance0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0000007HP:0000007Autosomal recessive inheritance0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0000007HP:0000007Autosomal recessive inheritance0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0000007HP:0000007Autosomal recessive inheritance0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0000007HP:0000007Autosomal recessive inheritance0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000007HP:0000007Autosomal recessive inheritance0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000007HP:0000007Autosomal recessive inheritance0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0000007HP:0000007Autosomal recessive inheritance0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0000007HP:0000007Autosomal recessive inheritance0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0000007HP:0000007Autosomal recessive inheritance0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 11.38
HP:0000007HP:0000007Autosomal recessive inheritance0POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 3.38
HP:0000007HP:0000007Autosomal recessive inheritance0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 2.31
HP:0000007HP:0000007Autosomal recessive inheritance0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0000007HP:0000007Autosomal recessive inheritance0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000007HP:0000007Autosomal recessive inheritance0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0000007HP:0000007Autosomal recessive inheritance0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0000007HP:0000007Autosomal recessive inheritance0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000007HP:0000007Autosomal recessive inheritance0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000007HP:0000007Autosomal recessive inheritance0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000007HP:0000007Autosomal recessive inheritance0POMC CL E G H54439201OMIM:601665OBESITY.27
HP:0000007HP:0000007Autosomal recessive inheritance0POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair.27
HP:0000007HP:0000007Autosomal recessive inheritance0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000007HP:0000007Autosomal recessive inheritance0POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0000007HP:0000007Autosomal recessive inheritance0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0000007HP:0000007Autosomal recessive inheritance0POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0000007HP:0000007Autosomal recessive inheritance0POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8.33
HP:0000007HP:0000007Autosomal recessive inheritance0POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.33
HP:0000007HP:0000007Autosomal recessive inheritance0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0000007HP:0000007Autosomal recessive inheritance0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.18
HP:0000007HP:0000007Autosomal recessive inheritance0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0000007HP:0000007Autosomal recessive inheritance0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000007HP:0000007Autosomal recessive inheritance0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0000007HP:0000007Autosomal recessive inheritance0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0000007HP:0000007Autosomal recessive inheritance0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000007HP:0000007Autosomal recessive inheritance0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000007HP:0000007Autosomal recessive inheritance0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0000007HP:0000007Autosomal recessive inheritance0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.221
HP:0000007HP:0000007Autosomal recessive inheritance0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0000007HP:0000007Autosomal recessive inheritance0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0000007HP:0000007Autosomal recessive inheritance0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000007HP:0000007Autosomal recessive inheritance0POR CL E G H54479208OMIM:613571Disordered steroidogenesis due to cytochrome P450 oxidoreductase76
HP:0000007HP:0000007Autosomal recessive inheritance0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0000007HP:0000007Autosomal recessive inheritance0PPA2 CL E G H2706828883OMIM:617223Sudden cardiac failure, alcohol-induced.8
HP:0000007HP:0000007Autosomal recessive inheritance0PPA2 CL E G H2706828883OMIM:617222Sudden cardiac failure, infantile.8
HP:0000007HP:0000007Autosomal recessive inheritance0PPARG CL E G H54689236OMIM:601665OBESITY.42
HP:0000007HP:0000007Autosomal recessive inheritance0PPCS CL E G H7971725686OMIM:618189Cardiomyopathy, dilated, 2C.
HP:0000007HP:0000007Autosomal recessive inheritance0PPFIBP1 CL E G H84969249OMIM:620024
HP:0000007HP:0000007Autosomal recessive inheritance0PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX39
HP:0000007HP:0000007Autosomal recessive inheritance0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0000007HP:0000007Autosomal recessive inheritance0PPIP5K2 CL E G H2326229035OMIM:618422Deafness, autosomal recessive 100.2
HP:0000007HP:0000007Autosomal recessive inheritance0PPM1K CL E G H15292625415OMIM:615135MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV1
HP:0000007HP:0000007Autosomal recessive inheritance0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0000007HP:0000007Autosomal recessive inheritance0PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0000007HP:0000007Autosomal recessive inheritance0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000007HP:0000007Autosomal recessive inheritance0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0000007HP:0000007Autosomal recessive inheritance0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0000007HP:0000007Autosomal recessive inheritance0PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0000007HP:0000007Autosomal recessive inheritance0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII.6
HP:0000007HP:0000007Autosomal recessive inheritance0PRDM13 CL E G H5933613998OMIM:6199092
HP:0000007HP:0000007Autosomal recessive inheritance0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0000007HP:0000007Autosomal recessive inheritance0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2.58
HP:0000007HP:0000007Autosomal recessive inheritance0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0000007HP:0000007Autosomal recessive inheritance0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0000007HP:0000007Autosomal recessive inheritance0PRDX3 CL E G H109359354OMIM:619862
HP:0000007HP:0000007Autosomal recessive inheritance0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 22.7
HP:0000007HP:0000007Autosomal recessive inheritance0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0000007HP:0000007Autosomal recessive inheritance0PRG4 CL E G H102169364OMIM:208250Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome.6
HP:0000007HP:0000007Autosomal recessive inheritance0PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B.133
HP:0000007HP:0000007Autosomal recessive inheritance0PRIM1 CL E G H55579369OMIM:620005
HP:0000007HP:0000007Autosomal recessive inheritance0PRKACG CL E G H55689382OMIM:616176Bleeding disorder, platelet-type, 19.2
HP:0000007HP:0000007Autosomal recessive inheritance0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000007HP:0000007Autosomal recessive inheritance0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities.42
HP:0000007HP:0000007Autosomal recessive inheritance0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000007HP:0000007Autosomal recessive inheritance0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000007HP:0000007Autosomal recessive inheritance0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0000007HP:0000007Autosomal recessive inheritance0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0000007HP:0000007Autosomal recessive inheritance0PRLR CL E G H56189446OMIM:615555HYPERPROLACTINEMIA.2
HP:0000007HP:0000007Autosomal recessive inheritance0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000007HP:0000007Autosomal recessive inheritance0PROC CL E G H56249451OMIM:612304Thrombophilia due to protein C deficiency, autosomal recessive.65
HP:0000007HP:0000007Autosomal recessive inheritance0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0000007HP:0000007Autosomal recessive inheritance0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0000007HP:0000007Autosomal recessive inheritance0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0000007HP:0000007Autosomal recessive inheritance0PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0000007HP:0000007Autosomal recessive inheritance0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000007HP:0000007Autosomal recessive inheritance0PROS1 CL E G H56279456OMIM:614514Thrombophilia due to protein S deficiency, autosomal recessive.75
HP:0000007HP:0000007Autosomal recessive inheritance0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0000007HP:0000007Autosomal recessive inheritance0PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus.159
HP:0000007HP:0000007Autosomal recessive inheritance0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7.159
HP:0000007HP:0000007Autosomal recessive inheritance0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0000007HP:0000007Autosomal recessive inheritance0PRSS12 CL E G H84929477OMIM:249500Mental retardation, autosomal recessive 1.73
HP:0000007HP:0000007Autosomal recessive inheritance0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6.11
HP:0000007HP:0000007Autosomal recessive inheritance0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0000007HP:0000007Autosomal recessive inheritance0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0000007HP:0000007Autosomal recessive inheritance0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0000007HP:0000007Autosomal recessive inheritance0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0000007HP:0000007Autosomal recessive inheritance0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0000007HP:0000007Autosomal recessive inheritance0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0000007HP:0000007Autosomal recessive inheritance0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0000007HP:0000007Autosomal recessive inheritance0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0000007HP:0000007Autosomal recessive inheritance0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency.27
HP:0000007HP:0000007Autosomal recessive inheritance0PSMB1 CL E G H56899537OMIM:6200382
HP:0000007HP:0000007Autosomal recessive inheritance0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0000007HP:0000007Autosomal recessive inheritance0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000007HP:0000007Autosomal recessive inheritance0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000007HP:0000007Autosomal recessive inheritance0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000007HP:0000007Autosomal recessive inheritance0PSMC1 CL E G H57009547OMIM:6200711
HP:0000007HP:0000007Autosomal recessive inheritance0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000007HP:0000007Autosomal recessive inheritance0PSMC3IP CL E G H2989317928OMIM:614324Ovarian dysgenesis 3.2
HP:0000007HP:0000007Autosomal recessive inheritance0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0000007HP:0000007Autosomal recessive inheritance0PSPH CL E G H57239577OMIM:614023Phosphoserine phosphatase deficiency.54
HP:0000007HP:0000007Autosomal recessive inheritance0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000007HP:0000007Autosomal recessive inheritance0PTCH2 CL E G H86439586OMIM:155255MEDULLOBLASTOMA.40
HP:0000007HP:0000007Autosomal recessive inheritance0PTF1A CL E G H25629723734OMIM:615935Pancreatic agenesis 2.22
HP:0000007HP:0000007Autosomal recessive inheritance0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0000007HP:0000007Autosomal recessive inheritance0PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0000007HP:0000007Autosomal recessive inheritance0PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated.16
HP:0000007HP:0000007Autosomal recessive inheritance0PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type.58
HP:0000007HP:0000007Autosomal recessive inheritance0PTH1R CL E G H57459608OMIM:600002Eiken syndrome.58
HP:0000007HP:0000007Autosomal recessive inheritance0PTPN14 CL E G H57849647OMIM:613611Choanal atresia and lymphedema.1
HP:0000007HP:0000007Autosomal recessive inheritance0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0000007HP:0000007Autosomal recessive inheritance0PTPRC CL E G H57889666OMIM:61992425
HP:0000007HP:0000007Autosomal recessive inheritance0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 2.1
HP:0000007HP:0000007Autosomal recessive inheritance0PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 6.2
HP:0000007HP:0000007Autosomal recessive inheritance0PTPRQ CL E G H3744629679OMIM:613391Deafness, autosomal recessive 84.7
HP:0000007HP:0000007Autosomal recessive inheritance0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0000007HP:0000007Autosomal recessive inheritance0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0000007HP:0000007Autosomal recessive inheritance0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0000007HP:0000007Autosomal recessive inheritance0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000007HP:0000007Autosomal recessive inheritance0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000007HP:0000007Autosomal recessive inheritance0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies.22
HP:0000007HP:0000007Autosomal recessive inheritance0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000007HP:0000007Autosomal recessive inheritance0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0000007HP:0000007Autosomal recessive inheritance0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0000007HP:0000007Autosomal recessive inheritance0PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0000007HP:0000007Autosomal recessive inheritance0PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0000007HP:0000007Autosomal recessive inheritance0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000007HP:0000007Autosomal recessive inheritance0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0000007HP:0000007Autosomal recessive inheritance0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0000007HP:0000007Autosomal recessive inheritance0QRICH2 CL E G H8407425326OMIM:618341Spermatogenic failure 35.
HP:0000007HP:0000007Autosomal recessive inheritance0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000007HP:0000007Autosomal recessive inheritance0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000007HP:0000007Autosomal recessive inheritance0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000007HP:0000007Autosomal recessive inheritance0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0000007HP:0000007Autosomal recessive inheritance0RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 18.6
HP:0000007HP:0000007Autosomal recessive inheritance0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0000007HP:0000007Autosomal recessive inheritance0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0000007HP:0000007Autosomal recessive inheritance0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000007HP:0000007Autosomal recessive inheritance0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000007HP:0000007Autosomal recessive inheritance0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000007HP:0000007Autosomal recessive inheritance0RAB5IF CL E G H5596915870OMIM:616994
HP:0000007HP:0000007Autosomal recessive inheritance0RAC2 CL E G H58809802OMIM:618987IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C9
HP:0000007HP:0000007Autosomal recessive inheritance0RACGAP1 CL E G H291279804OMIM:619789ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0000007HP:0000007Autosomal recessive inheritance0RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0000007HP:0000007Autosomal recessive inheritance0RAD50 CL E G H101119816OMIM:613078NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD789
HP:0000007HP:0000007Autosomal recessive inheritance0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0000007HP:0000007Autosomal recessive inheritance0RAG1 CL E G H58969831OMIM:233650Combined cellular and humoral immune defects with granulomas.127
HP:0000007HP:0000007Autosomal recessive inheritance0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0000007HP:0000007Autosomal recessive inheritance0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0000007HP:0000007Autosomal recessive inheritance0RAG2 CL E G H58979832OMIM:233650Combined cellular and humoral immune defects with granulomas.50
HP:0000007HP:0000007Autosomal recessive inheritance0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0000007HP:0000007Autosomal recessive inheritance0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0000007HP:0000007Autosomal recessive inheritance0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000007HP:0000007Autosomal recessive inheritance0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000007HP:0000007Autosomal recessive inheritance0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0000007HP:0000007Autosomal recessive inheritance0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0000007HP:0000007Autosomal recessive inheritance0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0000007HP:0000007Autosomal recessive inheritance0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0000007HP:0000007Autosomal recessive inheritance0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0000007HP:0000007Autosomal recessive inheritance0RASGRP2 CL E G H102359879OMIM:615888Bleeding disorder, platelet-type, 18.11
HP:0000007HP:0000007Autosomal recessive inheritance0RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 3.43
HP:0000007HP:0000007Autosomal recessive inheritance0RAX2 CL E G H8483918286OMIM:62010252
HP:0000007HP:0000007Autosomal recessive inheritance0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0000007HP:0000007Autosomal recessive inheritance0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000007HP:0000007Autosomal recessive inheritance0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency.10
HP:0000007HP:0000007Autosomal recessive inheritance0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000007HP:0000007Autosomal recessive inheritance0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome.10
HP:0000007HP:0000007Autosomal recessive inheritance0RBP3 CL E G H59499921OMIM:268000Retinitis pigmentosa.108
HP:0000007HP:0000007Autosomal recessive inheritance0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66.108
HP:0000007HP:0000007Autosomal recessive inheritance0RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome.8
HP:0000007HP:0000007Autosomal recessive inheritance0RCBTB1 CL E G H5521318243OMIM:617175RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA8
HP:0000007HP:0000007Autosomal recessive inheritance0RD3 CL E G H34303519689OMIM:610612Leber congenital amaurosis 12.95
HP:0000007HP:0000007Autosomal recessive inheritance0RDH11 CL E G H5110917964OMIM:616108Retinal dystrophy, juvenile cataracts, and short stature syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 13.45
HP:0000007HP:0000007Autosomal recessive inheritance0RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus.32
HP:0000007HP:0000007Autosomal recessive inheritance0RDX CL E G H59629944OMIM:611022Deafness, autosomal recessive, 24.97
HP:0000007HP:0000007Autosomal recessive inheritance0REC114 CL E G H28367725065OMIM:619176OOCYTE MATURATION DEFECT 10; OOMD10
HP:0000007HP:0000007Autosomal recessive inheritance0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000007HP:0000007Autosomal recessive inheritance0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000007HP:0000007Autosomal recessive inheritance0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000007HP:0000007Autosomal recessive inheritance0REEP1 CL E G H6505525786OMIM:62001187
HP:0000007HP:0000007Autosomal recessive inheritance0REEP2 CL E G H5130817975OMIM:615625Spastic paraplegia 72, autosomal recessive.3
HP:0000007HP:0000007Autosomal recessive inheritance0REEP6 CL E G H9284030078OMIM:617304Retinitis pigmentosa 77.5
HP:0000007HP:0000007Autosomal recessive inheritance0REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0000007HP:0000007Autosomal recessive inheritance0RELB CL E G H59719956OMIM:617585Immunodeficiency 53.1
HP:0000007HP:0000007Autosomal recessive inheritance0RELN CL E G H56499957OMIM:257320Lissencephaly 2334
HP:0000007HP:0000007Autosomal recessive inheritance0RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0000007HP:0000007Autosomal recessive inheritance0REN CL E G H59729958OMIM:267430Renal tubular dysgenesis.25
HP:0000007HP:0000007Autosomal recessive inheritance0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0000007HP:0000007Autosomal recessive inheritance0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0000007HP:0000007Autosomal recessive inheritance0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0000007HP:0000007Autosomal recessive inheritance0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000007HP:0000007Autosomal recessive inheritance0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0000007HP:0000007Autosomal recessive inheritance0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0000007HP:0000007Autosomal recessive inheritance0RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II.38
HP:0000007HP:0000007Autosomal recessive inheritance0RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome.28
HP:0000007HP:0000007Autosomal recessive inheritance0RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II.26
HP:0000007HP:0000007Autosomal recessive inheritance0RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II.34
HP:0000007HP:0000007Autosomal recessive inheritance0RGR CL E G H59959990OMIM:613769RETINITIS PIGMENTOSA 44; RP4428
HP:0000007HP:0000007Autosomal recessive inheritance0RGS9 CL E G H878710004OMIM:608415PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS9
HP:0000007HP:0000007Autosomal recessive inheritance0RGS9BP CL E G H38853130304OMIM:608415PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS6
HP:0000007HP:0000007Autosomal recessive inheritance0RHO CL E G H601010012OMIM:136880Fundus albipunctatus.107
HP:0000007HP:0000007Autosomal recessive inheritance0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0000007HP:0000007Autosomal recessive inheritance0RHOH CL E G H399686OMIM:618307Epidermodysplasia verruciformis, susceptibility to, 4.
HP:0000007HP:0000007Autosomal recessive inheritance0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000007HP:0000007Autosomal recessive inheritance0RIMS2 CL E G H969917283OMIM:618970CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS2
HP:0000007HP:0000007Autosomal recessive inheritance0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0000007HP:0000007Autosomal recessive inheritance0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0000007HP:0000007Autosomal recessive inheritance0RIPK1 CL E G H873710019OMIM:618108IMMUNODEFICIENCY 57; IMD57
HP:0000007HP:0000007Autosomal recessive inheritance0RIPK4 CL E G H54101496OMIM:214350CHANDS.69
HP:0000007HP:0000007Autosomal recessive inheritance0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000007HP:0000007Autosomal recessive inheritance0RIPOR2 CL E G H975013872OMIM:616515Deafness, autosomal recessive 104.1
HP:0000007HP:0000007Autosomal recessive inheritance0RIPPLY2 CL E G H13470121390OMIM:616566Spondylocostal dysostosis 6, autosomal recessive.3
HP:0000007HP:0000007Autosomal recessive inheritance0RLBP1 CL E G H601710024OMIM:607475Bothnia retinal dystrophy.47
HP:0000007HP:0000007Autosomal recessive inheritance0RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus.47
HP:0000007HP:0000007Autosomal recessive inheritance0RLBP1 CL E G H601710024OMIM:607476NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD47
HP:0000007HP:0000007Autosomal recessive inheritance0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0000007HP:0000007Autosomal recessive inheritance0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0000007HP:0000007Autosomal recessive inheritance0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0000007HP:0000007Autosomal recessive inheritance0RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis.37
HP:0000007HP:0000007Autosomal recessive inheritance0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0000007HP:0000007Autosomal recessive inheritance0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0000007HP:0000007Autosomal recessive inheritance0RNASEH2B CL E G H7962125671OMIM:610181Aicardi-Goutieres syndrome 234
HP:0000007HP:0000007Autosomal recessive inheritance0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0000007HP:0000007Autosomal recessive inheritance0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephaly.37
HP:0000007HP:0000007Autosomal recessive inheritance0RNF168 CL E G H16591826661OMIM:611943Riddle syndrome7
HP:0000007HP:0000007Autosomal recessive inheritance0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0000007HP:0000007Autosomal recessive inheritance0RNF212 CL E G H28549827729OMIM:619673SPERMATOGENIC FAILURE 62; SPGF624
HP:0000007HP:0000007Autosomal recessive inheritance0RNF213 CL E G H5767414539OMIM:607151MOYAMOYA DISEASE 2; MYMY214
HP:0000007HP:0000007Autosomal recessive inheritance0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0000007HP:0000007Autosomal recessive inheritance0RNF220 CL E G H5518225552OMIM:619688LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD231
HP:0000007HP:0000007Autosomal recessive inheritance0RNPC3 CL E G H5559918666OMIM:618160Isolated growth hormone deficiency, type V.
HP:0000007HP:0000007Autosomal recessive inheritance0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0000007HP:0000007Autosomal recessive inheritance0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000007HP:0000007Autosomal recessive inheritance0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000007HP:0000007Autosomal recessive inheritance0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000007HP:0000007Autosomal recessive inheritance0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 1.90
HP:0000007HP:0000007Autosomal recessive inheritance0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0000007HP:0000007Autosomal recessive inheritance0ROM1 CL E G H609410254OMIM:268000Retinitis pigmentosa.38
HP:0000007HP:0000007Autosomal recessive inheritance0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 7.38
HP:0000007HP:0000007Autosomal recessive inheritance0ROR1 CL E G H491910256OMIM:617654Deafness, autosomal recessive 1081
HP:0000007HP:0000007Autosomal recessive inheritance0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000007HP:0000007Autosomal recessive inheritance0RORC CL E G H609710260OMIM:616622Immunodeficiency 42.5
HP:0000007HP:0000007Autosomal recessive inheritance0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1.111
HP:0000007HP:0000007Autosomal recessive inheritance0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0000007HP:0000007Autosomal recessive inheritance0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0000007HP:0000007Autosomal recessive inheritance0RPE65 CL E G H612110294OMIM:613794Retinitis pigmentosa 20.129
HP:0000007HP:0000007Autosomal recessive inheritance0RPGRIP1 CL E G H5709613436OMIM:608194CONE-ROD DYSTROPHY 13; CORD13109
HP:0000007HP:0000007Autosomal recessive inheritance0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0000007HP:0000007Autosomal recessive inheritance0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000007HP:0000007Autosomal recessive inheritance0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0000007HP:0000007Autosomal recessive inheritance0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0000007HP:0000007Autosomal recessive inheritance0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0000007HP:0000007Autosomal recessive inheritance0RPL10L CL E G H14080117976OMIM:619689SPERMATOGENIC FAILURE 63; SPGF632
HP:0000007HP:0000007Autosomal recessive inheritance0RPL3L CL E G H612310351OMIM:619371CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0000007HP:0000007Autosomal recessive inheritance0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).125
HP:0000007HP:0000007Autosomal recessive inheritance0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000007HP:0000007Autosomal recessive inheritance0RRP7A CL E G H2734124286OMIM:619453MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0000007HP:0000007Autosomal recessive inheritance0RSPH1 CL E G H8976512371OMIM:615481Ciliary dyskinesia, primary, 24.31
HP:0000007HP:0000007Autosomal recessive inheritance0RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 32.5
HP:0000007HP:0000007Autosomal recessive inheritance0RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 1158
HP:0000007HP:0000007Autosomal recessive inheritance0RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0000007HP:0000007Autosomal recessive inheritance0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0000007HP:0000007Autosomal recessive inheritance0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000007HP:0000007Autosomal recessive inheritance0RSPO4 CL E G H34363716175OMIM:206800Anonychia congenita.8
HP:0000007HP:0000007Autosomal recessive inheritance0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0000007HP:0000007Autosomal recessive inheritance0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0000007HP:0000007Autosomal recessive inheritance0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5.77
HP:0000007HP:0000007Autosomal recessive inheritance0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0000007HP:0000007Autosomal recessive inheritance0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0000007HP:0000007Autosomal recessive inheritance0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0000007HP:0000007Autosomal recessive inheritance0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000007HP:0000007Autosomal recessive inheritance0RXYLT1 CL E G H1032913530OMIM:615041MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10.
HP:0000007HP:0000007Autosomal recessive inheritance0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0000007HP:0000007Autosomal recessive inheritance0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0000007HP:0000007Autosomal recessive inheritance0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000007HP:0000007Autosomal recessive inheritance0S1PR2 CL E G H92943169OMIM:610419Deafness, autosomal recessive 68.2
HP:0000007HP:0000007Autosomal recessive inheritance0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0000007HP:0000007Autosomal recessive inheritance0SAG CL E G H629510521OMIM:258100Oguchi disease 1.32
HP:0000007HP:0000007Autosomal recessive inheritance0SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0000007HP:0000007Autosomal recessive inheritance0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000007HP:0000007Autosomal recessive inheritance0SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial.8
HP:0000007HP:0000007Autosomal recessive inheritance0SAMD9L CL E G H2192851349OMIM:252270Myelodysplasia and leukemia syndrome with monosomy 7.4
HP:0000007HP:0000007Autosomal recessive inheritance0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0000007HP:0000007Autosomal recessive inheritance0SAR1B CL E G H5112810535OMIM:246700Chylomicron retention disease.8
HP:0000007HP:0000007Autosomal recessive inheritance0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0000007HP:0000007Autosomal recessive inheritance0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0000007HP:0000007Autosomal recessive inheritance0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.1
HP:0000007HP:0000007Autosomal recessive inheritance0SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive.4
HP:0000007HP:0000007Autosomal recessive inheritance0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0000007HP:0000007Autosomal recessive inheritance0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B3.16
HP:0000007HP:0000007Autosomal recessive inheritance0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0000007HP:0000007Autosomal recessive inheritance0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000007HP:0000007Autosomal recessive inheritance0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa.
HP:0000007HP:0000007Autosomal recessive inheritance0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0000007HP:0000007Autosomal recessive inheritance0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000007HP:0000007Autosomal recessive inheritance0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0000007HP:0000007Autosomal recessive inheritance0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16.263
HP:0000007HP:0000007Autosomal recessive inheritance0SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0000007HP:0000007Autosomal recessive inheritance0SCN5A CL E G H633110593OMIM:272120Sudden infant death syndrome.1134
HP:0000007HP:0000007Autosomal recessive inheritance0SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0000007HP:0000007Autosomal recessive inheritance0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0000007HP:0000007Autosomal recessive inheritance0SCNM1 CL E G H7900523136OMIM:620107
HP:0000007HP:0000007Autosomal recessive inheritance0SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive.67
HP:0000007HP:0000007Autosomal recessive inheritance0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0000007HP:0000007Autosomal recessive inheritance0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.40
HP:0000007HP:0000007Autosomal recessive inheritance0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0000007HP:0000007Autosomal recessive inheritance0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000007HP:0000007Autosomal recessive inheritance0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0000007HP:0000007Autosomal recessive inheritance0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000007HP:0000007Autosomal recessive inheritance0SDC3 CL E G H967210660OMIM:601665OBESITY.2
HP:0000007HP:0000007Autosomal recessive inheritance0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0000007HP:0000007Autosomal recessive inheritance0SDCCAG8 CL E G H1080610671OMIM:613615SENIOR-LOKEN SYNDROME 7; SLSN761
HP:0000007HP:0000007Autosomal recessive inheritance0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg.304
HP:0000007HP:0000007Autosomal recessive inheritance0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0000007HP:0000007Autosomal recessive inheritance0SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0000007HP:0000007Autosomal recessive inheritance0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0000007HP:0000007Autosomal recessive inheritance0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0000007HP:0000007Autosomal recessive inheritance0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 13.2
HP:0000007HP:0000007Autosomal recessive inheritance0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000007HP:0000007Autosomal recessive inheritance0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II.60
HP:0000007HP:0000007Autosomal recessive inheritance0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000007HP:0000007Autosomal recessive inheritance0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0000007HP:0000007Autosomal recessive inheritance0SECISBP2 CL E G H7904830972OMIM:609698Thyroid hormone metabolism, abnormal.3
HP:0000007HP:0000007Autosomal recessive inheritance0SELENBP1 CL E G H899110719OMIM:618148Extraoral halitosis due to MTO deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000007HP:0000007Autosomal recessive inheritance0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000007HP:0000007Autosomal recessive inheritance0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0000007HP:0000007Autosomal recessive inheritance0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0000007HP:0000007Autosomal recessive inheritance0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 10.48
HP:0000007HP:0000007Autosomal recessive inheritance0SEMA4A CL E G H6421810729OMIM:610282Retinitis pigmentosa 35.48
HP:0000007HP:0000007Autosomal recessive inheritance0SEMA7A CL E G H848210741OMIM:6198745
HP:0000007HP:0000007Autosomal recessive inheritance0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0000007HP:0000007Autosomal recessive inheritance0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency.4
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINB6 CL E G H52698950OMIM:613453Deafness, autosomal recessive 91.29
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type.4
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINB8 CL E G H52718952OMIM:617115Peeling skin syndrome 5.3
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINC1 CL E G H462775OMIM:613118Antithrombin III deficiency.88
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINE1 CL E G H50548583OMIM:613329Plasminogen activator inhibitor-1 deficiency.39
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINF1 CL E G H51768824OMIM:613982Osteogenesis imperfecta, type VI.35
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINF2 CL E G H53459075OMIM:262850Plasmin inhibitor deficiency.8
HP:0000007HP:0000007Autosomal recessive inheritance0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 1.64
HP:0000007HP:0000007Autosomal recessive inheritance0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000007HP:0000007Autosomal recessive inheritance0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0000007HP:0000007Autosomal recessive inheritance0SFRP4 CL E G H642410778OMIM:265900Pyle disease.3
HP:0000007HP:0000007Autosomal recessive inheritance0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 151
HP:0000007HP:0000007Autosomal recessive inheritance0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0000007HP:0000007Autosomal recessive inheritance0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0000007HP:0000007Autosomal recessive inheritance0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0000007HP:0000007Autosomal recessive inheritance0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0000007HP:0000007Autosomal recessive inheritance0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0000007HP:0000007Autosomal recessive inheritance0SGO1 CL E G H15164825088OMIM:616201Chronic atrial and intestinal dysrhythmia.2
HP:0000007HP:0000007Autosomal recessive inheritance0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000007HP:0000007Autosomal recessive inheritance0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0000007HP:0000007Autosomal recessive inheritance0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000007HP:0000007Autosomal recessive inheritance0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0000007HP:0000007Autosomal recessive inheritance0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000007HP:0000007Autosomal recessive inheritance0SHOC1 CL E G H15840126535OMIM:619949
HP:0000007HP:0000007Autosomal recessive inheritance0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0000007HP:0000007Autosomal recessive inheritance0SHQ1 CL E G H5516425543OMIM:619921
HP:0000007HP:0000007Autosomal recessive inheritance0SHQ1 CL E G H5516425543OMIM:619922
HP:0000007HP:0000007Autosomal recessive inheritance0SI CL E G H647610856OMIM:222900Sucrase-isomaltase deficiency, congenital98
HP:0000007HP:0000007Autosomal recessive inheritance0SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile.6
HP:0000007HP:0000007Autosomal recessive inheritance0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0000007HP:0000007Autosomal recessive inheritance0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0000007HP:0000007Autosomal recessive inheritance0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0000007HP:0000007Autosomal recessive inheritance0SIPA1L3 CL E G H2309423801OMIM:616851CATARACT 45; CTRCT453
HP:0000007HP:0000007Autosomal recessive inheritance0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy.20
HP:0000007HP:0000007Autosomal recessive inheritance0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0000007HP:0000007Autosomal recessive inheritance0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000007HP:0000007Autosomal recessive inheritance0SLC10A1 CL E G H655410905OMIM:619256HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC10A2 CL E G H655510906OMIM:613291Bile acid malabsorption, primary6
HP:0000007HP:0000007Autosomal recessive inheritance0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0000007HP:0000007Autosomal recessive inheritance0SLC11A2 CL E G H489110908OMIM:206100Anemia, hypochromic microcytic, with iron overload 1.60
HP:0000007HP:0000007Autosomal recessive inheritance0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0000007HP:0000007Autosomal recessive inheritance0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0000007HP:0000007Autosomal recessive inheritance0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 34.8
HP:0000007HP:0000007Autosomal recessive inheritance0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000007HP:0000007Autosomal recessive inheritance0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0000007HP:0000007Autosomal recessive inheritance0SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency.74
HP:0000007HP:0000007Autosomal recessive inheritance0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0000007HP:0000007Autosomal recessive inheritance0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0000007HP:0000007Autosomal recessive inheritance0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC19A1 CL E G H657310937OMIM:601775FOLATE LEVEL IN ERYTHROCYTES1
HP:0000007HP:0000007Autosomal recessive inheritance0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome.55
HP:0000007HP:0000007Autosomal recessive inheritance0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0000007HP:0000007Autosomal recessive inheritance0SLC1A1 CL E G H650510939OMIM:222730Dicarboxylicamino aciduria71
HP:0000007HP:0000007Autosomal recessive inheritance0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0000007HP:0000007Autosomal recessive inheritance0SLC22A12 CL E G H11608517989OMIM:220150Hypouricemia, renal, 1.56
HP:0000007HP:0000007Autosomal recessive inheritance0SLC22A18 CL E G H500210964OMIM:268210Rhabdomyosarcoma 1.3
HP:0000007HP:0000007Autosomal recessive inheritance0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0000007HP:0000007Autosomal recessive inheritance0SLC24A1 CL E G H918710975OMIM:613830Night blindness, congenital stationary, type 1D.66
HP:0000007HP:0000007Autosomal recessive inheritance0SLC24A4 CL E G H12304110978OMIM:615887Amelogenesis imperfecta, hypomaturation type, iia5.4
HP:0000007HP:0000007Autosomal recessive inheritance0SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI.12
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria.28
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 39.44
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset.82
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A13 CL E G H1016510983OMIM:605814Citrullinemia, type II, neonatal-onset.82
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type.36
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A22 CL E G H7975119954OMIM:609304Epileptic encephalopathy, early infantile, 3.166
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A3 CL E G H525010989OMIM:610773MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY35
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A32 CL E G H8103429683OMIM:616839EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI3
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A38 CL E G H5497726054OMIM:205950Anemia, sideroblastic, 2, pyridoxine-refractory.41
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type).68
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0000007HP:0000007Autosomal recessive inheritance0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A1 CL E G H1086110993OMIM:167030Nephrolithiasis, calcium oxalate.24
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital.89
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A4 CL E G H51728818OMIM:600791Enlarged vestibular aqueduct.274
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome.274
HP:0000007HP:0000007Autosomal recessive inheritance0SLC26A5 CL E G H3756119359OMIM:613865DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB6149
HP:0000007HP:0000007Autosomal recessive inheritance0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0000007HP:0000007Autosomal recessive inheritance0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000007HP:0000007Autosomal recessive inheritance0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1HP:0040283 - Occasional255
HP:0000007HP:0000007Autosomal recessive inheritance0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000007HP:0000007Autosomal recessive inheritance0SLC2A2 CL E G H651411006OMIM:227810Fanconi-Bickel syndrome.71
HP:0000007HP:0000007Autosomal recessive inheritance0SLC2A9 CL E G H5660613446OMIM:612076Hypouricemia, renal, 2.57
HP:0000007HP:0000007Autosomal recessive inheritance0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0000007HP:0000007Autosomal recessive inheritance0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration.48
HP:0000007HP:0000007Autosomal recessive inheritance0SLC34A1 CL E G H656911019OMIM:613388Fanconi renotubular syndrome 2.47
HP:0000007HP:0000007Autosomal recessive inheritance0SLC34A1 CL E G H656911019OMIM:616963HYPERCALCEMIA, INFANTILE, 2; HCINF247
HP:0000007HP:0000007Autosomal recessive inheritance0SLC34A2 CL E G H1056811020OMIM:265100Pulmonary alveolar microlithiasis.7
HP:0000007HP:0000007Autosomal recessive inheritance0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0000007HP:0000007Autosomal recessive inheritance0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf24
HP:0000007HP:0000007Autosomal recessive inheritance0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0000007HP:0000007Autosomal recessive inheritance0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0000007HP:0000007Autosomal recessive inheritance0SLC36A2 CL E G H15320118762OMIM:242600IMINOGLYCINURIA.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0000007HP:0000007Autosomal recessive inheritance0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0000007HP:0000007Autosomal recessive inheritance0SLC38A3 CL E G H1099118044OMIM:619881
HP:0000007HP:0000007Autosomal recessive inheritance0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2.13
HP:0000007HP:0000007Autosomal recessive inheritance0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0000007HP:0000007Autosomal recessive inheritance0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0000007HP:0000007Autosomal recessive inheritance0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0000007HP:0000007Autosomal recessive inheritance0SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000007HP:0000007Autosomal recessive inheritance0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0000007HP:0000007Autosomal recessive inheritance0SLC3A1 CL E G H651911025OMIM:220100CYSTINURIA.55
HP:0000007HP:0000007Autosomal recessive inheritance0SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0000007HP:0000007Autosomal recessive inheritance0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0000007HP:0000007Autosomal recessive inheritance0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0000007HP:0000007Autosomal recessive inheritance0SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0000007HP:0000007Autosomal recessive inheritance0SLC4A11 CL E G H8395916438OMIM:217400Corneal endothelial dystrophy and perceptive deafness66
HP:0000007HP:0000007Autosomal recessive inheritance0SLC4A11 CL E G H8395916438OMIM:217700CORNEAL ENDOTHELIAL DYSTROPHY; CHED66
HP:0000007HP:0000007Autosomal recessive inheritance0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation.89
HP:0000007HP:0000007Autosomal recessive inheritance0SLC51A CL E G H20093129955OMIM:619484CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0000007HP:0000007Autosomal recessive inheritance0SLC51B CL E G H12326429956OMIM:619481BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0000007HP:0000007Autosomal recessive inheritance0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0000007HP:0000007Autosomal recessive inheritance0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0000007HP:0000007Autosomal recessive inheritance0SLC5A1 CL E G H652311036OMIM:606824Glucose/galactose malabsorption.74
HP:0000007HP:0000007Autosomal recessive inheritance0SLC5A2 CL E G H652411037OMIM:233100Renal glucosuria.41
HP:0000007HP:0000007Autosomal recessive inheritance0SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 1.59
HP:0000007HP:0000007Autosomal recessive inheritance0SLC5A6 CL E G H888411041OMIM:619903
HP:0000007HP:0000007Autosomal recessive inheritance0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000007HP:0000007Autosomal recessive inheritance0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A19 CL E G H34002427960OMIM:234500Hartnup disorder.12
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A19 CL E G H34002427960OMIM:242600IMINOGLYCINURIA.12
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A20 CL E G H5471630927OMIM:242600IMINOGLYCINURIA.96
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 3.81
HP:0000007HP:0000007Autosomal recessive inheritance0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine.4
HP:0000007HP:0000007Autosomal recessive inheritance0SLC7A14 CL E G H5770929326OMIM:615725Retinitis pigmentosa 68.4
HP:0000007HP:0000007Autosomal recessive inheritance0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000007HP:0000007Autosomal recessive inheritance0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0000007HP:0000007Autosomal recessive inheritance0SLC7A9 CL E G H1113611067OMIM:220100CYSTINURIA.58
HP:0000007HP:0000007Autosomal recessive inheritance0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome.2
HP:0000007HP:0000007Autosomal recessive inheritance0SLC9A3 CL E G H655011073OMIM:616868Diarrhea 8, secretory sodium, congenital7
HP:0000007HP:0000007Autosomal recessive inheritance0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0000007HP:0000007Autosomal recessive inheritance0SLITRK6 CL E G H8418923503OMIM:221200Deafness and myopia.4
HP:0000007HP:0000007Autosomal recessive inheritance0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0000007HP:0000007Autosomal recessive inheritance0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P.274
HP:0000007HP:0000007Autosomal recessive inheritance0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0000007HP:0000007Autosomal recessive inheritance0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000007HP:0000007Autosomal recessive inheritance0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000007HP:0000007Autosomal recessive inheritance0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000007HP:0000007Autosomal recessive inheritance0SMG9 CL E G H5600625763OMIM:6199952
HP:0000007HP:0000007Autosomal recessive inheritance0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000007HP:0000007Autosomal recessive inheritance0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0000007HP:0000007Autosomal recessive inheritance0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0000007HP:0000007Autosomal recessive inheritance0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0000007HP:0000007Autosomal recessive inheritance0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0000007HP:0000007Autosomal recessive inheritance0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0000007HP:0000007Autosomal recessive inheritance0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0000007HP:0000007Autosomal recessive inheritance0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0000007HP:0000007Autosomal recessive inheritance0SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth.4
HP:0000007HP:0000007Autosomal recessive inheritance0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0000007HP:0000007Autosomal recessive inheritance0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B.164
HP:0000007HP:0000007Autosomal recessive inheritance0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000007HP:0000007Autosomal recessive inheritance0SNAI2 CL E G H659111094OMIM:608890Waardenburg syndrome, type 2D.19
HP:0000007HP:0000007Autosomal recessive inheritance0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000007HP:0000007Autosomal recessive inheritance0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0000007HP:0000007Autosomal recessive inheritance0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0000007HP:0000007Autosomal recessive inheritance0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0000007HP:0000007Autosomal recessive inheritance0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000007HP:0000007Autosomal recessive inheritance0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0000007HP:0000007Autosomal recessive inheritance0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0000007HP:0000007Autosomal recessive inheritance0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0000007HP:0000007Autosomal recessive inheritance0SOHLH1 CL E G H40238127845OMIM:617690Ovarian dysgenesis 5.3
HP:0000007HP:0000007Autosomal recessive inheritance0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0000007HP:0000007Autosomal recessive inheritance0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000007HP:0000007Autosomal recessive inheritance0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0000007HP:0000007Autosomal recessive inheritance0SP110 CL E G H34315401OMIM:235550Hepatic venoocclusive disease with immunodeficiency.49
HP:0000007HP:0000007Autosomal recessive inheritance0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000007HP:0000007Autosomal recessive inheritance0SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 28.45
HP:0000007HP:0000007Autosomal recessive inheritance0SPAG17 CL E G H20016226620OMIM:619380SPERMATOGENIC FAILURE 55; SPGF552
HP:0000007HP:0000007Autosomal recessive inheritance0SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII.2
HP:0000007HP:0000007Autosomal recessive inheritance0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0000007HP:0000007Autosomal recessive inheritance0SPATA16 CL E G H8389329935OMIM:102530SPERMATOGENIC FAILURE 6; SPGF631
HP:0000007HP:0000007Autosomal recessive inheritance0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome.19
HP:0000007HP:0000007Autosomal recessive inheritance0SPATA5L1 CL E G H7902928762OMIM:619615DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000007HP:0000007Autosomal recessive inheritance0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000007HP:0000007Autosomal recessive inheritance0SPATA7 CL E G H5581220423OMIM:604232LEBER CONGENITAL AMAUROSIS 3; LCA348
HP:0000007HP:0000007Autosomal recessive inheritance0SPEF2 CL E G H7992526293OMIM:618751SPERMATOGENIC FAILURE 43; SPGF4315
HP:0000007HP:0000007Autosomal recessive inheritance0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0000007HP:0000007Autosomal recessive inheritance0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0000007HP:0000007Autosomal recessive inheritance0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X.287
HP:0000007HP:0000007Autosomal recessive inheritance0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0000007HP:0000007Autosomal recessive inheritance0SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0000007HP:0000007Autosomal recessive inheritance0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0000007HP:0000007Autosomal recessive inheritance0SPIDR CL E G H2351428971OMIM:619665OVARIAN DYSGENESIS 9; ODG92
HP:0000007HP:0000007Autosomal recessive inheritance0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0000007HP:0000007Autosomal recessive inheritance0SPINK2 CL E G H669111245OMIM:618091Spermatogenic failure 29.
HP:0000007HP:0000007Autosomal recessive inheritance0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0000007HP:0000007Autosomal recessive inheritance0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.6
HP:0000007HP:0000007Autosomal recessive inheritance0SPNS2 CL E G H12497626992OMIM:618457Deafness, autosomal recessive 115.
HP:0000007HP:0000007Autosomal recessive inheritance0SPPL2A CL E G H8488830227OMIM:619549IMMUNODEFICIENCY 86; IMD86
HP:0000007HP:0000007Autosomal recessive inheritance0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0000007HP:0000007Autosomal recessive inheritance0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000007HP:0000007Autosomal recessive inheritance0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0000007HP:0000007Autosomal recessive inheritance0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0000007HP:0000007Autosomal recessive inheritance0SPTA1 CL E G H670811272OMIM:266140Pyropoikilocytosis, hereditary.228
HP:0000007HP:0000007Autosomal recessive inheritance0SPTA1 CL E G H670811272OMIM:270970Spherocytosis, autosomal recessive.228
HP:0000007HP:0000007Autosomal recessive inheritance0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0000007HP:0000007Autosomal recessive inheritance0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000007HP:0000007Autosomal recessive inheritance0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0000007HP:0000007Autosomal recessive inheritance0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0000007HP:0000007Autosomal recessive inheritance0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000007HP:0000007Autosomal recessive inheritance0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000007HP:0000007Autosomal recessive inheritance0SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias.86
HP:0000007HP:0000007Autosomal recessive inheritance0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000007HP:0000007Autosomal recessive inheritance0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0000007HP:0000007Autosomal recessive inheritance0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0000007HP:0000007Autosomal recessive inheritance0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0000007HP:0000007Autosomal recessive inheritance0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0000007HP:0000007Autosomal recessive inheritance0ST3GAL3 CL E G H648710866OMIM:611090Mental retardation, autosomal recessive 12.41
HP:0000007HP:0000007Autosomal recessive inheritance0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0000007HP:0000007Autosomal recessive inheritance0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0000007HP:0000007Autosomal recessive inheritance0STAG3 CL E G H1073411356OMIM:615723Premature ovarian failure 8.4
HP:0000007HP:0000007Autosomal recessive inheritance0STAG3 CL E G H1073411356OMIM:619672SPERMATOGENIC FAILURE 61; SPGF614
HP:0000007HP:0000007Autosomal recessive inheritance0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0000007HP:0000007Autosomal recessive inheritance0STAR CL E G H677011359OMIM:201710Lipoid congenital adrenal hyperplasia.45
HP:0000007HP:0000007Autosomal recessive inheritance0STAT1 CL E G H677211362OMIM:613796Mycobacterial and viral infections, susceptibility to, autosomal recessive.89
HP:0000007HP:0000007Autosomal recessive inheritance0STAT2 CL E G H677311363OMIM:616636Immunodeficiency 44.9
HP:0000007HP:0000007Autosomal recessive inheritance0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0000007HP:0000007Autosomal recessive inheritance0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0000007HP:0000007Autosomal recessive inheritance0STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive.99
HP:0000007HP:0000007Autosomal recessive inheritance0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0000007HP:0000007Autosomal recessive inheritance0STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0000007HP:0000007Autosomal recessive inheritance0STK4 CL E G H678911408OMIM:614868T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS.4
HP:0000007HP:0000007Autosomal recessive inheritance0STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 2.2
HP:0000007HP:0000007Autosomal recessive inheritance0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0000007HP:0000007Autosomal recessive inheritance0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000007HP:0000007Autosomal recessive inheritance0STRC CL E G H16149716035OMIM:603720DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB1678
HP:0000007HP:0000007Autosomal recessive inheritance0STRC CL E G H16149716035OMIM:611102Deafness, sensorineural, and male infertility.78
HP:0000007HP:0000007Autosomal recessive inheritance0STRC CL E G H16149716035OMIM:612997Spermatogenic failure 7.78
HP:0000007HP:0000007Autosomal recessive inheritance0STT3A CL E G H37036172OMIM:615596Congenital disorder of glycosylation, type Iw.21
HP:0000007HP:0000007Autosomal recessive inheritance0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0000007HP:0000007Autosomal recessive inheritance0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0000007HP:0000007Autosomal recessive inheritance0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0000007HP:0000007Autosomal recessive inheritance0STX3 CL E G H680911438OMIM:619445DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR121
HP:0000007HP:0000007Autosomal recessive inheritance0STX3 CL E G H680911438OMIM:619446RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID1
HP:0000007HP:0000007Autosomal recessive inheritance0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0000007HP:0000007Autosomal recessive inheritance0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0000007HP:0000007Autosomal recessive inheritance0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0000007HP:0000007Autosomal recessive inheritance0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0000007HP:0000007Autosomal recessive inheritance0SUFU CL E G H5168416466OMIM:155255MEDULLOBLASTOMA.124
HP:0000007HP:0000007Autosomal recessive inheritance0SUGCT CL E G H7978316001OMIM:231690Glutaric aciduria III.8
HP:0000007HP:0000007Autosomal recessive inheritance0SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 14.4
HP:0000007HP:0000007Autosomal recessive inheritance0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0000007HP:0000007Autosomal recessive inheritance0SUN5 CL E G H14073216252OMIM:617187Spermatogenic failure 16.6
HP:0000007HP:0000007Autosomal recessive inheritance0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0000007HP:0000007Autosomal recessive inheritance0SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0000007HP:0000007Autosomal recessive inheritance0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0000007HP:0000007Autosomal recessive inheritance0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000007HP:0000007Autosomal recessive inheritance0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0000007HP:0000007Autosomal recessive inheritance0SYCE1 CL E G H9342628852OMIM:616947PREMATURE OVARIAN FAILURE 12; POF124
HP:0000007HP:0000007Autosomal recessive inheritance0SYCE1 CL E G H9342628852OMIM:616950Spermatogenic failure 154
HP:0000007HP:0000007Autosomal recessive inheritance0SYCP2 CL E G H1038811490OMIM:258150SPERMATOGENIC FAILURE 1; SPGF11
HP:0000007HP:0000007Autosomal recessive inheritance0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0000007HP:0000007Autosomal recessive inheritance0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8.1129
HP:0000007HP:0000007Autosomal recessive inheritance0SYNE4 CL E G H16318326703OMIM:615540Deafness, autosomal recessive 76.21
HP:0000007HP:0000007Autosomal recessive inheritance0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0000007HP:0000007Autosomal recessive inheritance0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0000007HP:0000007Autosomal recessive inheritance0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0000007HP:0000007Autosomal recessive inheritance0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000007HP:0000007Autosomal recessive inheritance0SZT2 CL E G H2333429040OMIM:615476Epileptic encephalopathy, early infantile, 18.123
HP:0000007HP:0000007Autosomal recessive inheritance0TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmia.6
HP:0000007HP:0000007Autosomal recessive inheritance0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0000007HP:0000007Autosomal recessive inheritance0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia34
HP:0000007HP:0000007Autosomal recessive inheritance0TACSTD2 CL E G H407011530OMIM:204870Corneal dystrophy, gelatinous drop-like.42
HP:0000007HP:0000007Autosomal recessive inheritance0TAF13 CL E G H688411546OMIM:617432Mental retardation, autosomal recessive 60.2
HP:0000007HP:0000007Autosomal recessive inheritance0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 40.7
HP:0000007HP:0000007Autosomal recessive inheritance0TAF4B CL E G H687511538OMIM:615841Spermatogenic failure 13.1
HP:0000007HP:0000007Autosomal recessive inheritance0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0TAF8 CL E G H12968517300OMIM:619972
HP:0000007HP:0000007Autosomal recessive inheritance0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0000007HP:0000007Autosomal recessive inheritance0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0000007HP:0000007Autosomal recessive inheritance0TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I.5
HP:0000007HP:0000007Autosomal recessive inheritance0TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I.17
HP:0000007HP:0000007Autosomal recessive inheritance0TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I.3
HP:0000007HP:0000007Autosomal recessive inheritance0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000007HP:0000007Autosomal recessive inheritance0TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive.
HP:0000007HP:0000007Autosomal recessive inheritance0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 21.28
HP:0000007HP:0000007Autosomal recessive inheritance0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000007HP:0000007Autosomal recessive inheritance0TAT CL E G H689811573OMIM:276600Tyrosine transaminase deficiency.43
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D24 CL E G H5746529203OMIM:614617Deafness, autosomal recessive 86.271
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile.271
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000007HP:0000007Autosomal recessive inheritance0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0000007HP:0000007Autosomal recessive inheritance0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000007HP:0000007Autosomal recessive inheritance0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0000007HP:0000007Autosomal recessive inheritance0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000007HP:0000007Autosomal recessive inheritance0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0000007HP:0000007Autosomal recessive inheritance0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000007HP:0000007Autosomal recessive inheritance0TBX1 CL E G H689911592OMIM:217095Conotruncal heart malformations.32
HP:0000007HP:0000007Autosomal recessive inheritance0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated.57
HP:0000007HP:0000007Autosomal recessive inheritance0TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0000007HP:0000007Autosomal recessive inheritance0TBX21 CL E G H3000911599OMIM:619630IMMUNODEFICIENCY 88; IMD881
HP:0000007HP:0000007Autosomal recessive inheritance0TBX4 CL E G H949611603OMIM:601360Amelia, autosomal recessive.55
HP:0000007HP:0000007Autosomal recessive inheritance0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 5.19
HP:0000007HP:0000007Autosomal recessive inheritance0TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasia.16
HP:0000007HP:0000007Autosomal recessive inheritance0TBXT CL E G H686211515OMIM:615709Sacral agenesis with vertebral anomalies.
HP:0000007HP:0000007Autosomal recessive inheritance0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0000007HP:0000007Autosomal recessive inheritance0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0000007HP:0000007Autosomal recessive inheritance0TCHH CL E G H706211791OMIM:617252Uncombable hair syndrome 3.1
HP:0000007HP:0000007Autosomal recessive inheritance0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0000007HP:0000007Autosomal recessive inheritance0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0000007HP:0000007Autosomal recessive inheritance0TCTN1 CL E G H7960026113OMIM:614173Joubert syndrome 1345
HP:0000007HP:0000007Autosomal recessive inheritance0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0000007HP:0000007Autosomal recessive inheritance0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0000007HP:0000007Autosomal recessive inheritance0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 18.31
HP:0000007HP:0000007Autosomal recessive inheritance0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0000007HP:0000007Autosomal recessive inheritance0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0000007HP:0000007Autosomal recessive inheritance0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 233
HP:0000007HP:0000007Autosomal recessive inheritance0TDRD7 CL E G H2342430831OMIM:613887Cataract, autosomal recessive congenital 4.41
HP:0000007HP:0000007Autosomal recessive inheritance0TDRD9 CL E G H12240220122OMIM:618110Spermatogenic failure 30.
HP:0000007HP:0000007Autosomal recessive inheritance0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0000007HP:0000007Autosomal recessive inheritance0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 14.17
HP:0000007HP:0000007Autosomal recessive inheritance0TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 3.4
HP:0000007HP:0000007Autosomal recessive inheritance0TECTA CL E G H700711720OMIM:603629DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21222
HP:0000007HP:0000007Autosomal recessive inheritance0TEK CL E G H701011724OMIM:600975Glaucoma 3, primary infantile, B.78
HP:0000007HP:0000007Autosomal recessive inheritance0TELO2 CL E G H989429099OMIM:616954You-Hoover-Fong syndrome.12
HP:0000007HP:0000007Autosomal recessive inheritance0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000007HP:0000007Autosomal recessive inheritance0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000007HP:0000007Autosomal recessive inheritance0TERB1 CL E G H28384726675OMIM:619646SPERMATOGENIC FAILURE 60; SPGF60
HP:0000007HP:0000007Autosomal recessive inheritance0TERB2 CL E G H14564528520OMIM:619645SPERMATOGENIC FAILURE 59; SPGF59
HP:0000007HP:0000007Autosomal recessive inheritance0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0000007HP:0000007Autosomal recessive inheritance0TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0000007HP:0000007Autosomal recessive inheritance0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000007HP:0000007Autosomal recessive inheritance0TEX14 CL E G H5615511737OMIM:617707Spermatogenic failure 23.1
HP:0000007HP:0000007Autosomal recessive inheritance0TEX15 CL E G H5615411738OMIM:617960Spermatogenic failure 25.1
HP:0000007HP:0000007Autosomal recessive inheritance0TF CL E G H701811740OMIM:209300ATRANSFERRINEMIA.45
HP:0000007HP:0000007Autosomal recessive inheritance0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0000007HP:0000007Autosomal recessive inheritance0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive.18
HP:0000007HP:0000007Autosomal recessive inheritance0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0000007HP:0000007Autosomal recessive inheritance0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0000007HP:0000007Autosomal recessive inheritance0TG CL E G H703811764OMIM:274700Thyroid hormonogenesis, genetic defect in, 3.155
HP:0000007HP:0000007Autosomal recessive inheritance0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000007HP:0000007Autosomal recessive inheritance0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis.13
HP:0000007HP:0000007Autosomal recessive inheritance0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0000007HP:0000007Autosomal recessive inheritance0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1.98
HP:0000007HP:0000007Autosomal recessive inheritance0TGM3 CL E G H705311779OMIM:617251Uncombable hair syndrome 2.1
HP:0000007HP:0000007Autosomal recessive inheritance0TGM5 CL E G H933311781OMIM:609796Peeling skin syndrome, Acral type.44
HP:0000007HP:0000007Autosomal recessive inheritance0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0000007HP:0000007Autosomal recessive inheritance0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000007HP:0000007Autosomal recessive inheritance0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive.161
HP:0000007HP:0000007Autosomal recessive inheritance0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000007HP:0000007Autosomal recessive inheritance0TIA1 CL E G H707211802OMIM:604454Welander distal myopathy.5
HP:0000007HP:0000007Autosomal recessive inheritance0TIAM1 CL E G H707411805OMIM:6199082
HP:0000007HP:0000007Autosomal recessive inheritance0TICAM1 CL E G H14802218348OMIM:614850Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6.6
HP:0000007HP:0000007Autosomal recessive inheritance0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0000007HP:0000007Autosomal recessive inheritance0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0000007HP:0000007Autosomal recessive inheritance0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0000007HP:0000007Autosomal recessive inheritance0TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0000007HP:0000007Autosomal recessive inheritance0TJP2 CL E G H941411828OMIM:607748Hypercholanemia, familial.149
HP:0000007HP:0000007Autosomal recessive inheritance0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0000007HP:0000007Autosomal recessive inheritance0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0000007HP:0000007Autosomal recessive inheritance0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0000007HP:0000007Autosomal recessive inheritance0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0000007HP:0000007Autosomal recessive inheritance0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0000007HP:0000007Autosomal recessive inheritance0TLE6 CL E G H7981630788OMIM:616814Preimplantation embryonic lethality 1.1
HP:0000007HP:0000007Autosomal recessive inheritance0TLR3 CL E G H709811849OMIM:613002Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2.3
HP:0000007HP:0000007Autosomal recessive inheritance0TMC1 CL E G H11753116513OMIM:600974DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7109
HP:0000007HP:0000007Autosomal recessive inheritance0TMC6 CL E G H1132218021OMIM:226400Epidermodysplasia verruciformis, susceptibility to, 1.10
HP:0000007HP:0000007Autosomal recessive inheritance0TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24
HP:0000007HP:0000007Autosomal recessive inheritance0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy23
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 29.4
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM132E CL E G H12484226991OMIM:618481DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB991
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM147 CL E G H1043030414OMIM:620075
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIP4
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM231 CL E G H7958337234OMIM:615397Meckel syndrome, type 11.33
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM38B CL E G H5515125535OMIM:615066OSTEOGENESIS IMPERFECTA, TYPE XIV; OI144
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM63C CL E G H5715623787OMIM:619966
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM67 CL E G H9114728396OMIM:615991Bardet-Biedl syndrome 14.166
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000007HP:0000007Autosomal recessive inheritance0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000007HP:0000007Autosomal recessive inheritance0TMIE CL E G H25923630800OMIM:600971Deafness, autosomal recessive 6.39
HP:0000007HP:0000007Autosomal recessive inheritance0TMPRSS15 CL E G H56519490OMIM:226200Enterokinase deficiency.5
HP:0000007HP:0000007Autosomal recessive inheritance0TMPRSS3 CL E G H6469911877OMIM:601072DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8111
HP:0000007HP:0000007Autosomal recessive inheritance0TMPRSS6 CL E G H16465616517OMIM:206200IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA65
HP:0000007HP:0000007Autosomal recessive inheritance0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8.5
HP:0000007HP:0000007Autosomal recessive inheritance0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF10B CL E G H879511905OMIM:275355Squamous cell carcinoma, head and neck.2
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0000007HP:0000007Autosomal recessive inheritance0TNFRSF4 CL E G H729311918OMIM:615593Immunodeficiency 162
HP:0000007HP:0000007Autosomal recessive inheritance0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0000007HP:0000007Autosomal recessive inheritance0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 54.2
HP:0000007HP:0000007Autosomal recessive inheritance0TNNI3 CL E G H713711947OMIM:611880Cardiomyopathy, dilated, 2A.180
HP:0000007HP:0000007Autosomal recessive inheritance0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0000007HP:0000007Autosomal recessive inheritance0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0000007HP:0000007Autosomal recessive inheritance0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0000007HP:0000007Autosomal recessive inheritance0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000007HP:0000007Autosomal recessive inheritance0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000007HP:0000007Autosomal recessive inheritance0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0000007HP:0000007Autosomal recessive inheritance0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2.
HP:0000007HP:0000007Autosomal recessive inheritance0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0000007HP:0000007Autosomal recessive inheritance0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000007HP:0000007Autosomal recessive inheritance0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y.10
HP:0000007HP:0000007Autosomal recessive inheritance0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0000007HP:0000007Autosomal recessive inheritance0TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000007HP:0000007Autosomal recessive inheritance0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0000007HP:0000007Autosomal recessive inheritance0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type).21
HP:0000007HP:0000007Autosomal recessive inheritance0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000007HP:0000007Autosomal recessive inheritance0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000007HP:0000007Autosomal recessive inheritance0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0000007HP:0000007Autosomal recessive inheritance0TPMT CL E G H717212014OMIM:610460THIOPURINE S-METHYLTRANSFERASE DEFICIENCY.51
HP:0000007HP:0000007Autosomal recessive inheritance0TPO CL E G H717312015OMIM:274500Thyroid hormonogenesis, genetic defect in, 2A.92
HP:0000007HP:0000007Autosomal recessive inheritance0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0000007HP:0000007Autosomal recessive inheritance0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0000007HP:0000007Autosomal recessive inheritance0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000007HP:0000007Autosomal recessive inheritance0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5.
HP:0000007HP:0000007Autosomal recessive inheritance0TPRN CL E G H28626226894OMIM:613307Deafness, autosomal recessive 79.32
HP:0000007HP:0000007Autosomal recessive inheritance0TRAC CL E G H2875512029OMIM:615387T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY.1
HP:0000007HP:0000007Autosomal recessive inheritance0TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 9.6
HP:0000007HP:0000007Autosomal recessive inheritance0TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 8.4
HP:0000007HP:0000007Autosomal recessive inheritance0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0000007HP:0000007Autosomal recessive inheritance0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive.
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0000007HP:0000007Autosomal recessive inheritance0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13.158
HP:0000007HP:0000007Autosomal recessive inheritance0TRDN CL E G H1034512261OMIM:615441VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5145
HP:0000007HP:0000007Autosomal recessive inheritance0TREH CL E G H1118112266OMIM:612119Trehalase deficiency.2
HP:0000007HP:0000007Autosomal recessive inheritance0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0000007HP:0000007Autosomal recessive inheritance0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000007HP:0000007Autosomal recessive inheritance0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency.5
HP:0000007HP:0000007Autosomal recessive inheritance0TRHR CL E G H720112299OMIM:618573HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG72
HP:0000007HP:0000007Autosomal recessive inheritance0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0000007HP:0000007Autosomal recessive inheritance0TRIM32 CL E G H2295416380OMIM:615988Bardet-Biedl syndrome 11.108
HP:0000007HP:0000007Autosomal recessive inheritance0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0000007HP:0000007Autosomal recessive inheritance0TRIM36 CL E G H5552116280OMIM:206500ANENCEPHALY; ANPH1
HP:0000007HP:0000007Autosomal recessive inheritance0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000007HP:0000007Autosomal recessive inheritance0TRIOBP CL E G H1107817009OMIM:609823Deafness, autosomal recessive 28.154
HP:0000007HP:0000007Autosomal recessive inheritance0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0000007HP:0000007Autosomal recessive inheritance0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000007HP:0000007Autosomal recessive inheritance0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 3.2
HP:0000007HP:0000007Autosomal recessive inheritance0TRIP13 CL E G H931912307OMIM:619011OOCYTE MATURATION DEFECT 9; OOMD92
HP:0000007HP:0000007Autosomal recessive inheritance0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type.4
HP:0000007HP:0000007Autosomal recessive inheritance0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0000007HP:0000007Autosomal recessive inheritance0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0000007HP:0000007Autosomal recessive inheritance0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0000007HP:0000007Autosomal recessive inheritance0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 1.7
HP:0000007HP:0000007Autosomal recessive inheritance0TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 30.3
HP:0000007HP:0000007Autosomal recessive inheritance0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0000007HP:0000007Autosomal recessive inheritance0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0000007HP:0000007Autosomal recessive inheritance0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0000007HP:0000007Autosomal recessive inheritance0TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28
HP:0000007HP:0000007Autosomal recessive inheritance0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0000007HP:0000007Autosomal recessive inheritance0TRPM1 CL E G H43087146OMIM:613216NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C104
HP:0000007HP:0000007Autosomal recessive inheritance0TRPM6 CL E G H14080317995OMIM:602014Hypomagnesemia 1, intestinal.85
HP:0000007HP:0000007Autosomal recessive inheritance0TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatal.4
HP:0000007HP:0000007Autosomal recessive inheritance0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F.3
HP:0000007HP:0000007Autosomal recessive inheritance0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0000007HP:0000007Autosomal recessive inheritance0TSEN34 CL E G H7904215506OMIM:612390PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C57
HP:0000007HP:0000007Autosomal recessive inheritance0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0000007HP:0000007Autosomal recessive inheritance0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0000007HP:0000007Autosomal recessive inheritance0TSEN54 CL E G H28398927561OMIM:610204Pontocerebellar hypoplasia, type 5.102
HP:0000007HP:0000007Autosomal recessive inheritance0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0000007HP:0000007Autosomal recessive inheritance0TSGA10 CL E G H8070514927OMIM:617961Spermatogenic failure 26.
HP:0000007HP:0000007Autosomal recessive inheritance0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0000007HP:0000007Autosomal recessive inheritance0TSHR CL E G H725312373OMIM:275200Hypothyroidism, congenital, nongoitrous, 1.97
HP:0000007HP:0000007Autosomal recessive inheritance0TSPEAR CL E G H540841268OMIM:614861Deafness, autosomal recessive 98.39
HP:0000007HP:0000007Autosomal recessive inheritance0TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.39
HP:0000007HP:0000007Autosomal recessive inheritance0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0000007HP:0000007Autosomal recessive inheritance0TTC12 CL E G H5497023700OMIM:618801CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0000007HP:0000007Autosomal recessive inheritance0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0000007HP:0000007Autosomal recessive inheritance0TTC21A CL E G H19922330761OMIM:618429Spermatogenic failure 37.
HP:0000007HP:0000007Autosomal recessive inheritance0TTC21B CL E G H7980925660OMIM:613820Nephronophthisis 12132
HP:0000007HP:0000007Autosomal recessive inheritance0TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly.132
HP:0000007HP:0000007Autosomal recessive inheritance0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000007HP:0000007Autosomal recessive inheritance0TTC29 CL E G H8389429936OMIM:618745SPERMATOGENIC FAILURE 42; SPGF42
HP:0000007HP:0000007Autosomal recessive inheritance0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000007HP:0000007Autosomal recessive inheritance0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome.26
HP:0000007HP:0000007Autosomal recessive inheritance0TTC8 CL E G H12301620087OMIM:615985Bardet-Biedl syndrome 8.41
HP:0000007HP:0000007Autosomal recessive inheritance0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0000007HP:0000007Autosomal recessive inheritance0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000007HP:0000007Autosomal recessive inheritance0TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 19.9
HP:0000007HP:0000007Autosomal recessive inheritance0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 10.7128
HP:0000007HP:0000007Autosomal recessive inheritance0TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0000007HP:0000007Autosomal recessive inheritance0TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF.62
HP:0000007HP:0000007Autosomal recessive inheritance0TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesity.1
HP:0000007HP:0000007Autosomal recessive inheritance0TUBB8 CL E G H34768820773OMIM:616780Oocyte maturation defect 2.10
HP:0000007HP:0000007Autosomal recessive inheritance0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000007HP:0000007Autosomal recessive inheritance0TUBGCP4 CL E G H2722916691OMIM:616335Microcephaly and chorioretinopathy, autosomal recessive, 3.14
HP:0000007HP:0000007Autosomal recessive inheritance0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0000007HP:0000007Autosomal recessive inheritance0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0000007HP:0000007Autosomal recessive inheritance0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000007HP:0000007Autosomal recessive inheritance0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000007HP:0000007Autosomal recessive inheritance0TULP3 CL E G H728912425OMIM:619902
HP:0000007HP:0000007Autosomal recessive inheritance0TUSC3 CL E G H799130242OMIM:611093Mental retardation, autosomal recessive 7.76
HP:0000007HP:0000007Autosomal recessive inheritance0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0000007HP:0000007Autosomal recessive inheritance0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0000007HP:0000007Autosomal recessive inheritance0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5113
HP:0000007HP:0000007Autosomal recessive inheritance0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000007HP:0000007Autosomal recessive inheritance0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0000007HP:0000007Autosomal recessive inheritance0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000007HP:0000007Autosomal recessive inheritance0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000007HP:0000007Autosomal recessive inheritance0TXNRD2 CL E G H1058718155OMIM:617825GLUCOCORTICOID DEFICIENCY 5; GCCD585
HP:0000007HP:0000007Autosomal recessive inheritance0TYK2 CL E G H729712440OMIM:611521Immunodeficiency 3577
HP:0000007HP:0000007Autosomal recessive inheritance0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0000007HP:0000007Autosomal recessive inheritance0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0000007HP:0000007Autosomal recessive inheritance0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0000007HP:0000007Autosomal recessive inheritance0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0000007HP:0000007Autosomal recessive inheritance0TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III.62
HP:0000007HP:0000007Autosomal recessive inheritance0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0000007HP:0000007Autosomal recessive inheritance0UBA5 CL E G H7987623230OMIM:617133Spinocerebellar ataxia, autosomal recessive 24.13
HP:0000007HP:0000007Autosomal recessive inheritance0UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T.2
HP:0000007HP:0000007Autosomal recessive inheritance0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000007HP:0000007Autosomal recessive inheritance0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000007HP:0000007Autosomal recessive inheritance0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000007HP:0000007Autosomal recessive inheritance0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000007HP:0000007Autosomal recessive inheritance0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0000007HP:0000007Autosomal recessive inheritance0UCP3 CL E G H735212519OMIM:601665OBESITY.6
HP:0000007HP:0000007Autosomal recessive inheritance0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0000007HP:0000007Autosomal recessive inheritance0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14.
HP:0000007HP:0000007Autosomal recessive inheritance0UFSP2 CL E G H5532525640OMIM:6200282
HP:0000007HP:0000007Autosomal recessive inheritance0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000007HP:0000007Autosomal recessive inheritance0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000007HP:0000007Autosomal recessive inheritance0UGT1A1 CL E G H5465812530OMIM:218800Crigler-Najjar syndrome, type I73
HP:0000007HP:0000007Autosomal recessive inheritance0UGT1A1 CL E G H5465812530OMIM:606785Crigler-najjar syndrome, type II.73
HP:0000007HP:0000007Autosomal recessive inheritance0UGT1A1 CL E G H5465812530OMIM:237900Hyperbilirubinemia, familial transient neonatal.73
HP:0000007HP:0000007Autosomal recessive inheritance0UMPS CL E G H737212563OMIM:258900Orotic aciduria.135
HP:0000007HP:0000007Autosomal recessive inheritance0UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0000007HP:0000007Autosomal recessive inheritance0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000007HP:0000007Autosomal recessive inheritance0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000007HP:0000007Autosomal recessive inheritance0UNC93B1 CL E G H8162213481OMIM:610551ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE15
HP:0000007HP:0000007Autosomal recessive inheritance0UNG CL E G H737412572OMIM:608106Immunodeficiency with hyper-igm, type 5.44
HP:0000007HP:0000007Autosomal recessive inheritance0UPB1 CL E G H5173316297OMIM:613161Beta-Ureidopropionase deficiency.44
HP:0000007HP:0000007Autosomal recessive inheritance0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000007HP:0000007Autosomal recessive inheritance0UQCC3 CL E G H79095534399OMIM:616111Mitochondrial complex III deficiency, nuclear type 9.6
HP:0000007HP:0000007Autosomal recessive inheritance0UQCRB CL E G H738112582OMIM:615158Mitochondrial complex III deficiency, nuclear type 3.13
HP:0000007HP:0000007Autosomal recessive inheritance0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0000007HP:0000007Autosomal recessive inheritance0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0000007HP:0000007Autosomal recessive inheritance0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0000007HP:0000007Autosomal recessive inheritance0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency.8
HP:0000007HP:0000007Autosomal recessive inheritance0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31
HP:0000007HP:0000007Autosomal recessive inheritance0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0000007HP:0000007Autosomal recessive inheritance0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000007HP:0000007Autosomal recessive inheritance0USH1C CL E G H1008312597OMIM:602092DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A173
HP:0000007HP:0000007Autosomal recessive inheritance0USH1C CL E G H1008312597OMIM:276900Usher syndrome, type I.173
HP:0000007HP:0000007Autosomal recessive inheritance0USH1C CL E G H1008312597OMIM:276904Usher syndrome, type IC.173
HP:0000007HP:0000007Autosomal recessive inheritance0USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG.78
HP:0000007HP:0000007Autosomal recessive inheritance0USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39777
HP:0000007HP:0000007Autosomal recessive inheritance0USH2A CL E G H739912601OMIM:276901Usher syndrome, type IIA.777
HP:0000007HP:0000007Autosomal recessive inheritance0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0000007HP:0000007Autosomal recessive inheritance0USP45 CL E G H8501520080OMIM:618513LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000007HP:0000007Autosomal recessive inheritance0USP53 CL E G H5453229255OMIM:619658CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000007HP:0000007Autosomal recessive inheritance0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0000007HP:0000007Autosomal recessive inheritance0UVSSA CL E G H5765429304OMIM:614640Uv-Sensitive syndrome 3.3
HP:0000007HP:0000007Autosomal recessive inheritance0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0000007HP:0000007Autosomal recessive inheritance0VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic.2
HP:0000007HP:0000007Autosomal recessive inheritance0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0000007HP:0000007Autosomal recessive inheritance0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 20.56
HP:0000007HP:0000007Autosomal recessive inheritance0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5
HP:0000007HP:0000007Autosomal recessive inheritance0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0000007HP:0000007Autosomal recessive inheritance0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0000007HP:0000007Autosomal recessive inheritance0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0000007HP:0000007Autosomal recessive inheritance0VKORC1 CL E G H7900123663OMIM:607473Vitamin K-dependent clotting factors, combined deficiency of, 225
HP:0000007HP:0000007Autosomal recessive inheritance0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0000007HP:0000007Autosomal recessive inheritance0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0000007HP:0000007Autosomal recessive inheritance0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 12.1
HP:0000007HP:0000007Autosomal recessive inheritance0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0000007HP:0000007Autosomal recessive inheritance0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000007HP:0000007Autosomal recessive inheritance0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0000007HP:0000007Autosomal recessive inheritance0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0000007HP:0000007Autosomal recessive inheritance0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000007HP:0000007Autosomal recessive inheritance0VPS33B CL E G H2627612712OMIM:62000963
HP:0000007HP:0000007Autosomal recessive inheritance0VPS33B CL E G H2627612712OMIM:62001063
HP:0000007HP:0000007Autosomal recessive inheritance0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0000007HP:0000007Autosomal recessive inheritance0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000007HP:0000007Autosomal recessive inheritance0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0000007HP:0000007Autosomal recessive inheritance0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000007HP:0000007Autosomal recessive inheritance0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0000007HP:0000007Autosomal recessive inheritance0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000007HP:0000007Autosomal recessive inheritance0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000007HP:0000007Autosomal recessive inheritance0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0000007HP:0000007Autosomal recessive inheritance0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0000007HP:0000007Autosomal recessive inheritance0VSX2 CL E G H3389171975OMIM:610093MICROPHTHALMIA, ISOLATED 2; MCOP266
HP:0000007HP:0000007Autosomal recessive inheritance0VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0000007HP:0000007Autosomal recessive inheritance0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0000007HP:0000007Autosomal recessive inheritance0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0000007HP:0000007Autosomal recessive inheritance0VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2.533
HP:0000007HP:0000007Autosomal recessive inheritance0VWF CL E G H745012726OMIM:277480Von willebrand disease, type 3.533
HP:0000007HP:0000007Autosomal recessive inheritance0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0000007HP:0000007Autosomal recessive inheritance0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0000007HP:0000007Autosomal recessive inheritance0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 43.25
HP:0000007HP:0000007Autosomal recessive inheritance0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0000007HP:0000007Autosomal recessive inheritance0WBP2 CL E G H2355812738OMIM:617639DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB1073
HP:0000007HP:0000007Autosomal recessive inheritance0WDPCP CL E G H5105728027OMIM:615992Bardet-Biedl syndrome 15.60
HP:0000007HP:0000007Autosomal recessive inheritance0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0000007HP:0000007Autosomal recessive inheritance0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0000007HP:0000007Autosomal recessive inheritance0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0000007HP:0000007Autosomal recessive inheritance0WDR19 CL E G H5772818340OMIM:61986795
HP:0000007HP:0000007Autosomal recessive inheritance0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0000007HP:0000007Autosomal recessive inheritance0WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 13.95
HP:0000007HP:0000007Autosomal recessive inheritance0WDR19 CL E G H5772818340OMIM:616307Senior-Loken syndrome 8.95
HP:0000007HP:0000007Autosomal recessive inheritance0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0000007HP:0000007Autosomal recessive inheritance0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000007HP:0000007Autosomal recessive inheritance0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000007HP:0000007Autosomal recessive inheritance0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0000007HP:0000007Autosomal recessive inheritance0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0000007HP:0000007Autosomal recessive inheritance0WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V.51
HP:0000007HP:0000007Autosomal recessive inheritance0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.1
HP:0000007HP:0000007Autosomal recessive inheritance0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0000007HP:0000007Autosomal recessive inheritance0WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3.137
HP:0000007HP:0000007Autosomal recessive inheritance0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0000007HP:0000007Autosomal recessive inheritance0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0000007HP:0000007Autosomal recessive inheritance0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies.27
HP:0000007HP:0000007Autosomal recessive inheritance0WEE2 CL E G H49455119684OMIM:617996Oocyte maturation defect 5.
HP:0000007HP:0000007Autosomal recessive inheritance0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0000007HP:0000007Autosomal recessive inheritance0WHRN CL E G H2586116361OMIM:607084Deafness, autosomal recessive 31.155
HP:0000007HP:0000007Autosomal recessive inheritance0WHRN CL E G H2586116361OMIM:611383Usher syndrome, type IID.155
HP:0000007HP:0000007Autosomal recessive inheritance0WIPF1 CL E G H745612736OMIM:614493WISKOTT-ALDRICH SYNDROME 2; WAS26
HP:0000007HP:0000007Autosomal recessive inheritance0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0000007HP:0000007Autosomal recessive inheritance0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000007HP:0000007Autosomal recessive inheritance0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0000007HP:0000007Autosomal recessive inheritance0WNT1 CL E G H747112774OMIM:615220Osteogenesis imperfecta, type XV.12
HP:0000007HP:0000007Autosomal recessive inheritance0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000007HP:0000007Autosomal recessive inheritance0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0000007HP:0000007Autosomal recessive inheritance0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 4.71
HP:0000007HP:0000007Autosomal recessive inheritance0WNT10B CL E G H748012775OMIM:225300SPLIT-HAND/FOOT MALFORMATION 6; SHFM64
HP:0000007HP:0000007Autosomal recessive inheritance0WNT2B CL E G H748212781OMIM:618168Diarrhea 91
HP:0000007HP:0000007Autosomal recessive inheritance0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0000007HP:0000007Autosomal recessive inheritance0WNT4 CL E G H5436112783OMIM:61181246,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs.4
HP:0000007HP:0000007Autosomal recessive inheritance0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0000007HP:0000007Autosomal recessive inheritance0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0000007HP:0000007Autosomal recessive inheritance0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 3.40
HP:0000007HP:0000007Autosomal recessive inheritance0WRN CL E G H748612791OMIM:277700Werner syndrome.310
HP:0000007HP:0000007Autosomal recessive inheritance0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28.149
HP:0000007HP:0000007Autosomal recessive inheritance0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0000007HP:0000007Autosomal recessive inheritance0XDH CL E G H749812805OMIM:278300Xanthinuria, type I.79
HP:0000007HP:0000007Autosomal recessive inheritance0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0000007HP:0000007Autosomal recessive inheritance0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0000007HP:0000007Autosomal recessive inheritance0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1.109
HP:0000007HP:0000007Autosomal recessive inheritance0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0000007HP:0000007Autosomal recessive inheritance0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U.125
HP:0000007HP:0000007Autosomal recessive inheritance0XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125
HP:0000007HP:0000007Autosomal recessive inheritance0XRCC2 CL E G H751612829OMIM:619145SPERMATOGENIC FAILURE 50; SPGF50125
HP:0000007HP:0000007Autosomal recessive inheritance0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0000007HP:0000007Autosomal recessive inheritance0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000007HP:0000007Autosomal recessive inheritance0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0000007HP:0000007Autosomal recessive inheritance0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0000007HP:0000007Autosomal recessive inheritance0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0000007HP:0000007Autosomal recessive inheritance0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000007HP:0000007Autosomal recessive inheritance0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0000007HP:0000007Autosomal recessive inheritance0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000007HP:0000007Autosomal recessive inheritance0YIPF5 CL E G H8155524877OMIM:619278MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0000007HP:0000007Autosomal recessive inheritance0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000007HP:0000007Autosomal recessive inheritance0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000007HP:0000007Autosomal recessive inheritance0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0000007HP:0000007Autosomal recessive inheritance0ZAP70 CL E G H753512858OMIM:617006AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO246
HP:0000007HP:0000007Autosomal recessive inheritance0ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT.46
HP:0000007HP:0000007Autosomal recessive inheritance0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69.
HP:0000007HP:0000007Autosomal recessive inheritance0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0000007HP:0000007Autosomal recessive inheritance0ZBTB42 CL E G H10012892732550OMIM:616248Lethal congenital contracture syndrome 6.1
HP:0000007HP:0000007Autosomal recessive inheritance0ZC3H14 CL E G H7988220509OMIM:617125Mental retardation, autosomal recessive 56.24
HP:0000007HP:0000007Autosomal recessive inheritance0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0000007HP:0000007Autosomal recessive inheritance0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0000007HP:0000007Autosomal recessive inheritance0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0000007HP:0000007Autosomal recessive inheritance0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0000007HP:0000007Autosomal recessive inheritance0ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 22.20
HP:0000007HP:0000007Autosomal recessive inheritance0ZMYND15 CL E G H8422520997OMIM:615842Spermatogenic failure 14.1
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A6.3
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 72.14
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF423 CL E G H2309016762OMIM:614844Nephronophthisis 14.49
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 58.27
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000007HP:0000007Autosomal recessive inheritance0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000007HP:0000007Autosomal recessive inheritance0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000007HP:0000007Autosomal recessive inheritance0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0000007HP:0000007Autosomal recessive inheritance0ZP1 CL E G H2291713187OMIM:615774Oocyte maturation defect.1
HP:0000007HP:0000007Autosomal recessive inheritance0ZP2 CL E G H778313188OMIM:618353OOCYTE MATURATION DEFECT 6; OOMD6
HP:0000007HP:0000007Autosomal recessive inheritance0ZPBP CL E G H1105515662OMIM:619799SPERMATOGENIC FAILURE 66; SPGF66
HP:0000007HP:0000007Autosomal recessive inheritance0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000007HP:0000007Autosomal recessive inheritance0ZSWIM7 CL E G H12515026993OMIM:619834OVARIAN DYSGENESIS 10; ODG10
HP:0000007HP:0000007Autosomal recessive inheritance0ZSWIM7 CL E G H12515026993OMIM:619831SPERMATOGENIC FAILURE 71; SPGF71


Genes (2924) :AAAS AARS1 AARS2 AASS ABAT ABCA1 ABCA12 ABCA2 ABCA3 ABCA4 ABCA5 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCC9 ABCD3 ABCD4 ABCG5 ABCG8 ABHD12 ABHD16A ABHD5 ACACA ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACBD5 ACD ACE ACER3 ACKR3 ACO2 ACOX1 ACOX2 ACP4 ACP5 ACSF3 ACTA1 ACTL6B ACTL9 ACY1 ADA ADA2 ADAM17 ADAM22 ADAM9 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADARB1 ADAT3 ADCY1 ADCY3 ADCY5 ADCY6 ADD3 ADGRG1 ADGRG6 ADGRV1 ADK ADPRS ADRB2 ADRB3 ADSL ADSS1 AEBP1 AFG3L2 AFP AGA AGBL5 AGK AGL AGPAT2 AGPS AGRN AGRP AGT AGTPBP1 AGTR1 AGXT AHCY AHI1 AHR AHSG AICDA AIMP1 AIMP2 AIP AIPL1 AIRE AK1 AK2 AK7 AKR1C2 AKR1C4 AKR1D1 ALAD ALB ALDH18A1 ALDH1A2 ALDH1A3 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALPK3 ALPL ALS2 ALX1 ALX3 ALX4 AMACR AMBN AMH AMHR2 AMN AMPD1 AMPD2 AMT ANAPC1 ANAPC7 ANGPTL3 ANK1 ANK3 ANKLE2 ANKS6 ANO1 ANO10 ANO5 ANO6 ANTXR1 ANTXR2 AOPEP AP1B1 AP1G1 AP1S1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APOA1 APOA2 APOB APOC2 APOE APRT APTX AQP2 ARFGEF2 ARG1 ARHGDIA ARHGEF1 ARHGEF18 ARHGEF2 ARL13B ARL2BP ARL3 ARL6 ARL6IP1 ARMC2 ARMC9 ARNT2 ARPC1B ARSA ARSB ARSG ARSK ARV1 ASAH1 ASCC1 ASL ASNS ASPA ASPH ASPM ASS1 ASTL ATAD1 ATAD3A ATCAY ATF6 ATG5 ATG7 ATIC ATM ATOH7 ATP13A2 ATP13A3 ATP1A2 ATP2A1 ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1B1 ATP6V1E1 ATP7B ATP8A2 ATP8B1 ATPAF2 ATR AUH AURKC AVIL AXL B2M B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAAT BAG5 BANF1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCAT2 BCHE BCKDHA BCKDHB BCL10 BCS1L BDP1 BEST1 BFSP1 BHLHA9 BIN1 BLM BLNK BLOC1S3 BLOC1S5 BLOC1S6 BLTP1 BLVRA BMP1 BMP2 BMPER BMPR1B BOLA3 BPGM BPNT2 BRAT1 BRCA1 BRCA2 BRDT BRF1 BRIP1 BSCL2 BSND BTD BTG4 BUB1B BVES C11ORF80 C12ORF4 C12ORF57 C14ORF39 C18ORF32 C19ORF12 C1QA C1QB C1QBP C1QC C2 C2CD3 C2ORF69 C3 C4A C5 C6 C7 C8A C8B CA12 CA2 CA5A CA8 CABP2 CABP4 CACNA1B CACNA1D CACNA2D2 CACNA2D4 CAD CALCRL CAMK2A CANT1 CAPN1 CAPN15 CAPN3 CARD10 CARD11 CARD9 CARMIL2 CARS1 CARS2 CARTPT CASP14 CASP8 CASQ2 CASR CAST CAT CATIP CATSPER1 CATSPER2 CAV1 CAVIN1 CBLIF CBS CBX2 CC2D1A CC2D2A CCBE1 CCDC103 CCDC115 CCDC134 CCDC141 CCDC174 CCDC28B CCDC32 CCDC34 CCDC39 CCDC40 CCDC47 CCDC62 CCDC65 CCDC8 CCDC88A CCDC88C CCN6 CCNO CCT5 CD151 CD19 CD247 CD27 CD320 CD36 CD3D CD3E CD3G CD4 CD40 CD46 CD55 CD59 CD70 CD79A CD79B CD81 CD8A CDAN1 CDC14A CDC40 CDC45 CDC6 CDCA7 CDH11 CDH2 CDH23 CDH3 CDHR1 CDIN1 CDK10 CDK5 CDK5RAP2 CDK6 CDSN CDT1 CEACAM16 CEBPE CENPE CENPF CENPJ CENPT CEP104 CEP112 CEP120 CEP135 CEP152 CEP164 CEP19 CEP250 CEP290 CEP41 CEP55 CEP57 CEP63 CEP78 CEP83 CERKL CERS1 CERS3 CFAP251 CFAP298 CFAP300 CFAP410 CFAP418 CFAP43 CFAP44 CFAP45 CFAP52 CFAP53 CFAP58 CFAP65 CFAP69 CFAP70 CFAP91 CFB CFD CFH CFHR1 CFHR3 CFI CFL2 CFTR CHAT CHKA CHKB CHMP1A CHP1 CHRM3 CHRNA1 CHRNA3 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CHST6 CHST8 CHSY1 CHUK CIB1 CIB2 CIBAR1 CIDEC CIITA CILK1 CIROP CISD2 CIT CKAP2L CLCC1 CLCF1 CLCN1 CLCN2 CLCN3 CLCN7 CLCNKB CLDN1 CLDN10 CLDN14 CLDN16 CLDN19 CLDN9 CLEC7A CLIC5 CLMP CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLPP CLRN1 CLRN2 CNGA1 CNGA3 CNGB1 CNGB3 CNNM2 CNNM4 CNP CNPY3 CNTN1 CNTN2 CNTNAP1 CNTNAP2 COA3 COA5 COA6 COA7 COA8 COASY COCH COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL18A1 COL1A2 COL25A1 COL27A1 COL3A1 COL4A3 COL4A4 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLGALT1 COLQ COPB1 COPB2 COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 CORO1A COX10 COX14 COX15 COX16 COX20 COX4I1 COX4I2 COX5A COX6A1 COX6A2 COX6B1 COX8A CP CPA6 CPAMD8 CPE CPLANE1 CPLX1 CPN1 CPOX CPS1 CPSF3 CPT1A CPT2 CR2 CRADD CRAT CRB1 CRB2 CRBN CREB3L1 CRIPT CRLF1 CRPPA CRTAP CRX CRYAA CRYAB CRYBB1 CRYBB3 CSF1R CSF2RB CSF3R CSGALNACT1 CSPP1 CST6 CSTA CSTB CTC1 CTDP1 CTH CTNNA2 CTNNB1 CTNNBL1 CTNS CTPS1 CTSA CTSC CTSD CTSF CTSK CTU2 CUBN CUL7 CWC27 CWF19L1 CXCR2 CYB561 CYB5A CYB5R3 CYBA CYBC1 CYC1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP26B1 CYP26C1 CYP27A1 CYP27B1 CYP2D6 CYP2R1 CYP2U1 CYP4F22 CYP4V2 CYP7B1 D2HGDH DAAM2 DAG1 DALRD3 DARS1 DARS2 DBH DBR1 DBT DCAF17 DCC DCDC2 DCHS1 DCLRE1C DCPS DCT DCTN1 DDB2 DDC DDHD1 DDHD2 DDOST DDR2 DDRGK1 DDX11 DDX59 DEAF1 DEF6 DEGS1 DENND5A DES DGAT1 DGKE DGUOK DHCR24 DHCR7 DHDDS DHFR DHH DHODH DHPS DHTKD1 DHX37 DHX38 DIAPH1 DIS3L2 DLAT DLD DLL3 DLX5 DMGDH DMP1 DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB2 DNAJC12 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAJC6 DNAL1 DNAL4 DNASE1L3 DNASE2 DNHD1 DNM1L DNM2 DNMBP DNMT3B DOCK2 DOCK3 DOCK6 DOCK7 DOCK8 DOHH DOK7 DOLK DONSON DPAGT1 DPH1 DPH2 DPM1 DPM2 DPM3 DPY19L2 DPYD DPYS DRAM2 DRC1 DSC2 DSC3 DSE DSG1 DSG2 DSG3 DSG4 DSP DST DSTYK DTNBP1 DTYMK DUOX2 DUOXA2 DUSP6 DUT DYM DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYSF DZIP1 DZIP1L EARS2 ECEL1 ECHS1 ECM1 EDAR EDARADD EDC3 EDEM3 EDN1 EDN3 EDNRB EFEMP2 EFL1 EGF EGFR EGR2 EIF2AK3 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF3F EIF4A3 ELAC2 ELMO2 ELMOD3 ELOVL4 ELP1 ELP2 EMC1 EMC10 EMG1 EML1 EMP2 EN1 ENAM ENO3 ENPP1 ENTPD1 EOGT EPB41 EPB42 EPCAM EPG5 EPHB2 EPHX2 EPM2A EPO EPRS1 EPS8 EPS8L2 ERAL1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ERGIC1 ERLIN1 ERLIN2 ESCO2 ESPN ESR1 ESRP1 ESRRB ETFA ETFB ETFDH ETHE1 EVC EVC2 EXOC2 EXOC6B EXOC7 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXPH5 EXT2 EXTL3 EYS F10 F11 F12 F13A1 F13B F2 F5 F7 FA2H FADD FAH FAM149B1 FAM161A FAM20A FAM20C FAN1 FANCA FANCC FANCD2 FANCE FANCF FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FASTKD2 FAT4 FBLN5 FBP1 FBXL3 FBXL4 FBXO31 FBXO43 FBXO7 FCGR2A FCGR3A FCHO1 FCN3 FCSK FDFT1 FDX2 FDXR FECH FERMT1 FERMT3 FEZF1 FGA FGB FGD4 FGF17 FGF20 FGF23 FGF3 FGF5 FGFR3 FGG FH FIBP FIG4 FITM2 FKBP10 FKBP14 FKBP6 FKRP FKTN FLAD1 FLG FLG2 FLI1 FLNB FLVCR1 FLVCR2 FMN2 FMO3 FNIP1 FOCAD FOLR1 FOXE1 FOXE3 FOXI1 FOXN1 FOXRED1 FRAS1 FREM1 FREM2 FRMD4A FRRS1L FSHB FSHR FSIP2 FTCD FTL FTO FUCA1 FUT8 FXN FXR1 FYB1 FYCO1 FZD6 G6PC1 G6PC3 GAA GAB1 GAD1 GALC GALE GALK1 GALM GALNS GALNT2 GALNT3 GALT GAMT GAN GAS2L2 GAS8 GATA5 GATA6 GATAD1 GATB GATC GATM GBA1 GBA2 GBE1 GCDH GCGR GCH1 GCK GCLC GCM2 GCNT2 GCSH GDAP1 GDAP2 GDF1 GDF5 GDF6 GDF9 GEMIN4 GEMIN5 GFER GFI1B GFM1 GFM2 GFPT1 GFRA1 GGCX GGN GGPS1 GGT1 GH1 GHR GHRHR GHRL GHSR GIMAP5 GINS1 GIPC3 GJA1 GJB2 GJB3 GJB6 GJC2 GLB1 GLDC GLDN GLE1 GLI1 GLIS2 GLIS3 GLRA1 GLRB GLRX5 GLS GLUL GLYCTK GM2A GMPPA GMPPB GNAT1 GNAT2 GNB3 GNB5 GNE GNMT GNPAT GNPTAB GNPTG GNRH1 GNRHR GNS GON7 GORAB GOSR2 GOT2 GP1BA GP1BB GP6 GP9 GPAA1 GPC6 GPD1 GPHN GPI GPIHBP1 GPNMB GPR161 GPR179 GPR68 GPR88 GPSM2 GPT2 GPX1 GPX4 GRAP GRHL2 GRHPR GRIA1 GRID2 GRIK2 GRIN1 GRIP1 GRK1 GRM1 GRM6 GRM7 GRN GRXCR1 GRXCR2 GSC GSR GSS GSX2 GTF2E2 GTF2H5 GTPBP2 GTPBP3 GUCY1A1 GUCY2C GUCY2D GUF1 GUSB GYG1 GYS1 GYS2 GZF1 H6PD HAAO HACD1 HACE1 HADH HADHA HADHB HAMP HARS1 HARS2 HAVCR2 HAX1 HBB HEATR3 HELLS HEPACAM HEPHL1 HERC1 HERC2 HES7 HESX1 HEXB HFE HFM1 HGD HGF HGSNAT HHAT HIBCH HID1 HIKESHI HINT1 HJV HK1 HKDC1 HLA-DQA1 HLA-DQB1 HLCS HMGCL HMGCS2 HMOX1 HMX1 HNMT HOGA1 HOXA1 HOXA2 HOXB1 HOXC13 HPCA HPD HPDL HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HPSE2 HR HS2ST1 HSCB HSD11B2 HSD17B3 HSD17B4 HSD3B2 HSD3B7 HSF2BP HSPA9 HSPD1 HSPG2 HTRA1 HTRA2 HTT HYAL1 HYCC1 HYDIN HYLS1 HYOU1 IARS1 IARS2 IBA57 ICOS IDH3A IDH3B IDUA IER3IP1 IFIH1 IFNAR1 IFNAR2 IFNG IFNGR1 IFNGR2 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IGF1 IGF1R IGFBP7 IGHM IGHMBP2 IGKC IGLL1 IGSF3 IHH IKBKB IL10RA IL10RB IL11RA IL12B IL12RB1 IL17RA IL17RC IL17RD IL18BP IL1RN IL21 IL21R IL2RA IL2RB IL36RN IL37 IL6R IL6ST IL7 IL7R ILDR1 IMPA1 IMPG2 ING1 INPP5E INPP5K INPPL1 INS INSR INTS1 INTS8 INTU INVS IPO8 IQCB1 IQCE IQSEC1 IRAK4 IREB2 IRF7 IRF8 IRF9 IRX5 ISCA1 ISCA2 ISCU ISG15 ITCH ITGA2B ITGA3 ITGA6 ITGA7 ITGA8 ITGB2 ITGB3 ITGB4 ITGB6 ITK ITPA ITPR1 ITPR2 IVD IYD JAG2 JAGN1 JAK2 JAK3 JAM2 JAM3 JPH1 JPH2 JUP KANK2 KARS1 KATNB1 KATNIP KCNA4 KCNE1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ16 KCNMA1 KCNQ1 KCNV2 KCTD7 KDELR2 KDM5B KDSR KERA KHDC3L KIAA0586 KIAA0753 KIAA0825 KIAA1549 KIDINS220 KIF12 KIF14 KIF15 KIF1A KIF1C KIF20A KIF7 KIFBP KIRREL1 KISS1 KISS1R KITLG KIZ KL KLC2 KLHDC8B KLHL3 KLHL40 KLHL41 KLHL7 KLK4 KLKB1 KNL1 KNSTRN KPTN KREMEN1 KRT1 KRT10 KRT14 KRT18 KRT25 KRT5 KRT74 KRT83 KRT85 KY KYNU L2HGDH LACC1 LAMA1 LAMA2 LAMA3 LAMA5 LAMB1 LAMB2 LAMB3 LAMC2 LAMC3 LAMTOR2 LARGE1 LARP7 LARS1 LARS2 LAT LBR LBX1 LCA5 LCAT LCK LCP2 LCT LDHA LDHD LDLR LDLRAP1 LEMD2 LEP LEPR LETM1 LFNG LGI3 LGI4 LHB LHCGR LHFPL5 LHX3 LIAS LIFR LIG1 LIG3 LIG4 LIM2 LIMS2 LINGO1 LINS1 LIPA LIPC LIPE LIPH LIPN LIPT1 LIPT2 LMAN1 LMAN2L LMBR1 LMBRD1 LMF1 LMNA LMNB2 LMOD1 LMOD2 LMOD3 LMX1B LNPK LONP1 LOXHD1 LOXL3 LPAR6 LPIN1 LPIN2 LPL LRAT LRBA LRIG2 LRIT3 LRMDA LRP1 LRP2 LRP4 LRP5 LRPAP1 LRPPRC LRRC32 LRRC56 LRRK1 LRSAM1 LRTOMT LSM11 LSS LTBP1 LTBP2 LTBP3 LTBP4 LTC4S LYRM4 LYRM7 LYSET LYST LZTFL1 LZTR1 M1AP MAB21L1 MAB21L2 MAD2L2 MADD MAG MAGI2 MAK MALT1 MAN1B1 MAN2B1 MAN2C1 MANBA MAP3K20 MAPKAPK5 MAPKBP1 MAPT MARK3 MARS1 MARS2 MARVELD2 MASP1 MASP2 MAT1A MATN3 MBOAT7 MBTPS1 MC1R MC2R MC4R MCCC1 MCCC2 MCEE MCFD2 MCIDAS MCM10 MCM3AP MCM4 MCM5 MCM8 MCM9 MCOLN1 MCPH1 MDFIC MDH1 MDH2 MDM2 MECR MED17 MED23 MED25 MED27 MEFV MEGF10 MEGF8 MEI1 MEIOB MEOX1 MERTK MESD MESP2 MET METTL23 METTL5 MFF MFN2 MFRP MFSD2A MFSD8 MGAT2 MGME1 MGP MIA3 MICOS13 MICU1 MIEF2 MINPP1 MIPEP MITF MKKS MKS1 MLC1 MLH1 MLIP MLPH MLYCD MMAA MMAB MMACHC MMADHC MME MMP1 MMP13 MMP14 MMP2 MMP20 MMP21 MMP9 MMUT MNS1 MOCOS MOCS1 MOCS2 MOGS MOV10L1 MPC1 MPDU1 MPDZ MPI MPIG6B MPL MPLKIP MPO MPV17 MPZ MPZL2 MRAP MRE11 MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS23 MRPS25 MRPS28 MRPS34 MRPS7 MRTFA MS4A1 MSH2 MSH3 MSH4 MSH5 MSH6 MSMO1 MSRB3 MSTN MSTO1 MTFMT MTHFD1 MTHFR MTHFS MTMR2 MTO1 MTPAP MTR MTRFR MTRR MTTP MTX2 MUSK MUTYH MVK MYBPC1 MYBPC3 MYD88 MYF5 MYH11 MYH2 MYH3 MYH7 MYL1 MYL11 MYL2 MYL3 MYL9 MYLK MYMK MYMX MYO15A MYO18B MYO1E MYO1H MYO3A MYO5A MYO5B MYO6 MYO7A MYO9A MYOD1 MYORG MYPN MYSM1 NAA20 NADK2 NADSYN1 NAGA NAGLU NAGS NALCN NANS NAPB NARS1 NARS2 NAT8L NAXD NAXE NBAS NBEAL2 NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCF1 NCF2 NCF4 NCKAP1L NDE1 NDRG1 NDST1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NECTIN4 NEFH NEFL NEK1 NEK10 NEK2 NEK8 NEK9 NEMF NEPRO NEU1 NEUROG3 NFASC NFS1 NFU1 NGF NGLY1 NHLH2 NHLRC1 NHLRC2 NHP2 NIN NIPAL4 NKX2-5 NKX2-6 NKX3-2 NKX6-2 NLRP1 NLRP7 NME5 NME8 NMNAT1 NNT NOP10 NOS1AP NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPPA NPR2 NPR3 NR0B2 NR1H4 NR2E3 NRCAM NRROS NRXN1 NSMCE2 NSMCE3 NSRP1 NSUN2 NSUN3 NT5C2 NT5C3A NT5E NTHL1 NTNG2 NTRK1 NUAK2 NUBPL NUDT2 NUP107 NUP133 NUP155 NUP160 NUP188 NUP205 NUP214 NUP37 NUP62 NUP85 NUP88 NUP93 NUS1 NXN OAT OBSL1 OCA2 OCLN ODAD1 ODAD2 ODAD3 ODAD4 ODAPH OGDH OGDHL OPA1 OPA3 OPLAH OPTN ORAI1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTOA OTOF OTOG OTOGL OTUD6B OTULIN OXCT1 OXR1 P2RY12 P3H1 P3H2 P4HTM PADI3 PADI6 PAICS PALB2 PAM16 PANK2 PAPPA2 PAPSS2 PARK7 PARN PARS2 PATL2 PAX1 PAX3 PAX4 PAX7 PC PCARE PCBD1 PCCA PCCB PCDH12 PCDH15 PCK1 PCK2 PCLO PCNA PCNT PCSK1 PCYT1A PCYT2 PDCD6IP PDE10A PDE2A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDHA2 PDHB PDHX PDP1 PDSS1 PDSS2 PDX1 PDXK PDZD7 PDZD8 PEPD PERCC1 PERP PET100 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGAP1 PGAP2 PGAP3 PGM1 PGM3 PGR PHC1 PHGDH PHKB PHKG2 PHOX2A PHYH PI4KA PIBF1 PIDD1 PIEZO1 PIEZO2 PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CD PIK3CG PIK3R1 PIK3R5 PINK1 PIP5K1C PISD PITRM1 PITX3 PJVK PKD1L1 PKDCC PKHD1 PKLR PKP1 PLA2G4A PLA2G6 PLA2G7 PLAA PLCB1 PLCB3 PLCB4 PLCD1 PLCE1 PLCH1 PLCZ1 PLD1 PLEC PLEKHG2 PLEKHG5 PLEKHM1 PLG PLK4 PLOD1 PLOD2 PLOD3 PLPBP PLVAP PLXNA1 PMFBP1 PMM2 PMP22 PMPCA PMPCB PMS2 PNKP PNLDC1 PNLIP PNP PNPLA1 PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POC1B POGLUT1 POLE POLG POLG2 POLH POLR1C POLR1D POLR3A POLR3B POLR3GL POLR3K POLRMT POMC POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POP1 POPDC3 POR POU1F1 PPA2 PPARG PPCS PPFIBP1 PPIB PPIL1 PPIP5K2 PPM1K PPP1R15B PPP1R17 PPP1R21 PPP2R3C PPT1 PRCD PRDM12 PRDM13 PRDM5 PRDM8 PRDX1 PRDX3 PREPL PRF1 PRG4 PRICKLE1 PRIM1 PRKACG PRKCD PRKDC PRKG2 PRKN PRKRA PRLR PRMT7 PROC PRODH PROM1 PROP1 PRORP PROS1 PRPH PRPH2 PRRX1 PRSS12 PRSS56 PRUNE1 PRX PSAP PSAT1 PSMB1 PSMB10 PSMB4 PSMB8 PSMB9 PSMC1 PSMC3 PSMC3IP PSMG2 PSPH PTCD3 PTCH2 PTF1A PTGER2 PTH PTH1R PTPN14 PTPN23 PTPRC PTPRF PTPRO PTPRQ PTRH2 PTS PUS1 PUS3 PUS7 PXDN PYCR1 PYCR2 PYGL PYGM PYROXD1 QARS1 QDPR QRICH2 QRSL1 RAB18 RAB23 RAB27A RAB28 RAB33B RAB3GAP1 RAB3GAP2 RAB5IF RAC2 RACGAP1 RAD21 RAD50 RAD51C RAG1 RAG2 RALGAPA1 RAPSN RARB RARS1 RARS2 RASGRP1 RASGRP2 RAX RAX2 RBBP8 RBCK1 RBL2 RBM28 RBM8A RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 RDX REC114 RECQL4 REEP1 REEP2 REEP6 REL RELB RELN RELT REN REPS1 RETREG1 RFC1 RFT1 RFWD3 RFX5 RFX6 RFXANK RFXAP RGR RGS9 RGS9BP RHO RHOH RIC1 RIMS2 RIN2 RINT1 RIPK1 RIPK4 RIPOR2 RIPPLY2 RLBP1 RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF168 RNF170 RNF212 RNF213 RNF216 RNF220 RNPC3 RNU4ATAC RNU7-1 ROBO3 ROGDI ROM1 ROR1 ROR2 RORC RP1 RP1L1 RPE65 RPGRIP1 RPGRIP1L RPIA RPL10L RPL3L RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RSPO4 RSPRY1 RSRC1 RTEL1 RTN4IP1 RTTN RUBCN RUSC2 RXYLT1 RYR1 S1PR2 SACS SAG SALL2 SAMD9 SAMD9L SAMHD1 SAR1B SARS1 SARS2 SASH1 SASS6 SBDS SBF1 SBF2 SC5D SCAPER SCARB2 SCARF2 SCN1B SCN4A SCN5A SCN9A SCNM1 SCNN1A SCO1 SCO2 SCP2 SCUBE3 SCYL1 SCYL2 SDC3 SDCCAG8 SDHA SDHAF1 SDHB SDHD SDR9C7 SEC23A SEC23B SEC24D SEC31A SECISBP2 SELENBP1 SELENOI SELENON SEMA3E SEMA4A SEMA7A SEPSECS SERAC1 SERPINA1 SERPINA6 SERPINB6 SERPINB7 SERPINB8 SERPINC1 SERPINE1 SERPINF1 SERPINF2 SERPING1 SERPINH1 SETX SFRP4 SFTPB SFXN4 SGCA SGCB SGCD SGCG SGO1 SGPL1 SGSH SH3PXD2B SH3TC2 SHMT2 SHOC1 SHOX SHQ1 SI SIGMAR1 SIK3 SIL1 SIPA1L3 SIX6 SKIC2 SKIC3 SLC10A1 SLC10A2 SLC10A7 SLC11A2 SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A6 SLC13A3 SLC13A5 SLC16A1 SLC17A5 SLC18A2 SLC18A3 SLC19A1 SLC19A2 SLC19A3 SLC1A1 SLC1A4 SLC22A12 SLC22A18 SLC22A5 SLC24A1 SLC24A4 SLC24A5 SLC25A1 SLC25A10 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A26 SLC25A3 SLC25A32 SLC25A38 SLC25A4 SLC25A42 SLC25A46 SLC26A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A9 SLC30A10 SLC30A9 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A3 SLC35C1 SLC35D1 SLC36A2 SLC37A4 SLC38A3 SLC38A8 SLC39A13 SLC39A14 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC41A1 SLC44A1 SLC45A1 SLC45A2 SLC46A1 SLC4A1 SLC4A11 SLC4A4 SLC51A SLC51B SLC52A2 SLC52A3 SLC5A1 SLC5A2 SLC5A5 SLC5A6 SLC5A7 SLC6A17 SLC6A19 SLC6A20 SLC6A3 SLC6A5 SLC6A9 SLC7A14 SLC7A6OS SLC7A7 SLC7A9 SLC9A1 SLC9A3 SLCO2A1 SLITRK6 SLURP1 SLX4 SMAD2 SMARCAL1 SMARCD2 SMG8 SMG9 SMN1 SMN2 SMO SMOC1 SMOC2 SMPD1 SMPD4 SNAI2 SNAP29 SNIP1 SNORD118 SNX10 SNX14 SOBP SOD1 SOHLH1 SORD SOST SOX18 SP110 SP7 SPAG1 SPAG17 SPARC SPART SPATA16 SPATA5 SPATA5L1 SPATA7 SPEF2 SPEG SPG11 SPG21 SPG7 SPIDR SPINK1 SPINK2 SPINK5 SPINT2 SPNS2 SPPL2A SPR SPRED2 SPRTN SPRY4 SPTA1 SPTBN2 SPTBN4 SQOR SQSTM1 SRA1 SRCAP SRD5A2 SRD5A3 SRP54 ST14 ST3GAL3 ST3GAL5 STAC3 STAG3 STAMBP STAR STAT1 STAT2 STAT5B STIL STIM1 STK36 STK4 STN1 STRA6 STRADA STRC STT3A STT3B STUB1 STX11 STX3 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SUN5 SUOX SURF1 SVBP SVIL SYCE1 SYCP2 SYNE1 SYNE4 SYNJ1 SYT14 SYT2 SZT2 TAC3 TACO1 TACR3 TACSTD2 TAF13 TAF2 TAF4B TAF6 TAF8 TALDO1 TANGO2 TAP1 TAP2 TAPBP TAPT1 TARS1 TARS2 TASP1 TAT TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBCK TBX1 TBX15 TBX19 TBX21 TBX4 TBX6 TBXAS1 TBXT TCAP TCF3 TCHH TCIRG1 TCN2 TCTN1 TCTN2 TCTN3 TDP1 TDP2 TDRD7 TDRD9 TECPR2 TECR TECRL TECTA TEK TELO2 TENM3 TENT5A TERB1 TERB2 TERT TET2 TET3 TEX14 TEX15 TF TFAM TFG TFR2 TFRC TG TGDS TGFB1 TGM1 TGM3 TGM5 TH THG1L THOC6 THRB THUMPD1 TIA1 TIAM1 TICAM1 TIMM22 TIMM50 TIMMDC1 TJP2 TK2 TKFC TKT TLCD3B TLE6 TLR3 TMC1 TMC6 TMC8 TMCO1 TMEM107 TMEM126A TMEM126B TMEM132E TMEM138 TMEM147 TMEM165 TMEM199 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM260 TMEM38B TMEM53 TMEM63C TMEM67 TMEM70 TMEM94 TMIE TMPRSS15 TMPRSS3 TMPRSS6 TMTC3 TMX2 TNFRSF10B TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF4 TNFSF11 TNIK TNNI3 TNNT1 TNR TNXB TOE1 TOGARAM1 TONSL TOP3A TOR1A TOR1AIP1 TP53RK TP73 TPI1 TPK1 TPM2 TPM3 TPMT TPO TPP1 TPP2 TPRKB TPRN TRAC TRAF3IP1 TRAF3IP2 TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TRDN TREH TREM2 TREX1 TRH TRHR TRIM2 TRIM32 TRIM36 TRIM37 TRIOBP TRIP11 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT10C TRMT5 TRMU TRNN TRNS1 TRNT1 TRPM1 TRPM6 TRPV6 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSGA10 TSHB TSHR TSPEAR TSPYL1 TTC12 TTC19 TTC21A TTC21B TTC26 TTC29 TTC5 TTC7A TTC8 TTI2 TTLL5 TTN TTPA TUB TUBB8 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TULP1 TULP3 TUSC3 TWIST2 TWNK TXN2 TXNDC15 TXNL4A TXNRD2 TYK2 TYMP TYR TYROBP TYRP1 UBA5 UBE2T UBE3B UBE4A UBR1 UBR7 UCHL1 UCP3 UFC1 UFM1 UFSP2 UGDH UGP2 UGT1A1 UMPS UNC13D UNC45A UNC80 UNC93B1 UNG UPB1 UQCC2 UQCC3 UQCRB UQCRC2 UQCRFS1 UQCRQ UROC1 UROD UROS USB1 USH1C USH1G USH2A USP18 USP45 USP53 USP8 UVSSA VAC14 VAMP1 VARS1 VARS2 VAX1 VDR VHL VIPAS39 VKORC1 VLDLR VPS11 VPS13A VPS13B VPS13C VPS13D VPS33A VPS33B VPS35L VPS37A VPS41 VPS45 VPS50 VPS51 VPS53 VRK1 VSX2 VWA1 VWA3B VWF WARS2 WASHC4 WASHC5 WBP2 WDPCP WDR1 WDR11 WDR19 WDR35 WDR4 WDR45 WDR45B WDR62 WDR72 WDR73 WDR81 WEE2 WFS1 WHRN WIPF1 WIPI2 WLS WNK1 WNT1 WNT10A WNT10B WNT2B WNT3 WNT4 WNT7A WRAP53 WRN WWOX XDH XPA XPC XPNPEP3 XRCC1 XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YARS2 YIF1B YIPF5 YME1L1 YRDC YY1AP1 ZAP70 ZBTB11 ZBTB24 ZBTB42 ZC3H14 ZFYVE19 ZFYVE26 ZMPSTE24 ZMYND10 ZMYND15 ZNF141 ZNF142 ZNF335 ZNF341 ZNF407 ZNF408 ZNF423 ZNF469 ZNF513 ZNF526 ZNF699 ZNFX1 ZNHIT3 ZP1 ZP2 ZPBP ZPR1 ZSWIM7

Diseases (3305) :OMIM:231550 OMIM:616339 OMIM:619691 OMIM:614096 OMIM:615889 OMIM:238700 OMIM:613163 OMIM:205400 OMIM:601277 OMIM:242500 OMIM:618808 OMIM:610921 OMIM:604116 OMIM:601718 OMIM:248200 OMIM:135400 OMIM:605479 OMIM:601847 OMIM:614972 OMIM:602347 OMIM:600803 OMIM:237500 OMIM:614473 OMIM:264800 OMIM:618857 OMIM:256450 OMIM:619719 OMIM:616278 OMIM:614857 OMIM:618666 OMIM:210250 OMIM:612674 OMIM:619735 OMIM:275630 OMIM:613933 OMIM:611283 OMIM:611126 OMIM:201450 OMIM:201470 OMIM:610006 OMIM:201475 OMIM:612813 OMIM:203750 OMIM:618863 OMIM:616553 OMIM:267430 OMIM:617762 OMIM:619215 OMIM:614559 OMIM:616289 OMIM:264470 OMIM:617308 OMIM:617297 OMIM:607944 OMIM:614265 OMIM:255310 OMIM:161800 OMIM:618468 OMIM:619258 OMIM:609924 OMIM:102700 OMIM:182410 OMIM:615688 OMIM:614328 OMIM:617933 OMIM:612775 OMIM:277600 OMIM:274150 OMIM:613195 OMIM:615458 OMIM:620067 OMIM:225410 OMIM:618154 OMIM:231050 OMIM:225100 OMIM:225200 OMIM:615010 OMIM:618862 OMIM:615286 OMIM:610154 OMIM:617885 OMIM:619647 OMIM:619651 OMIM:616287 OMIM:617008 OMIM:606854 OMIM:615752 OMIM:616503 OMIM:605472 OMIM:614300 OMIM:618170 OMIM:601665 OMIM:103050 OMIM:617030 OMIM:618000 OMIM:614487 OMIM:615969 OMIM:208400 OMIM:617023 OMIM:614691 OMIM:212350 OMIM:232400 OMIM:608594 OMIM:600121 OMIM:615120 OMIM:618276 OMIM:259900 OMIM:613752 OMIM:608629 OMIM:618345 OMIM:203650 OMIM:605258 OMIM:260600 OMIM:618006 OMIM:219090 OMIM:604393 OMIM:268000 OMIM:240300 OMIM:612631 OMIM:267500 OMIM:617965 OMIM:614279 OMIM:235555 OMIM:612740 OMIM:616000 OMIM:219150 OMIM:616586 OMIM:620025 OMIM:615113 OMIM:270200 OMIM:239510 OMIM:271980 OMIM:614105 OMIM:266100 OMIM:611881 OMIM:229600 OMIM:608540 OMIM:613661 OMIM:607143 OMIM:619031 OMIM:616227 OMIM:619036 OMIM:607906 OMIM:616228 OMIM:601110 OMIM:603147 OMIM:608104 OMIM:608776 OMIM:263210 OMIM:618504 OMIM:203800 OMIM:242100 OMIM:606545 OMIM:618052 OMIM:146300 OMIM:241510 OMIM:241500 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:613456 OMIM:136760 OMIM:613451 OMIM:614307 OMIM:214950 OMIM:616270 OMIM:261550 OMIM:618882 OMIM:615511 OMIM:615809 OMIM:615686 OMIM:605899 OMIM:618625 OMIM:619699 OMIM:605019 OMIM:182900 OMIM:615493 OMIM:616681 OMIM:615382 OMIM:620045 OMIM:613728 OMIM:613319 OMIM:611307 OMIM:262890 OMIM:230740 OMIM:228600 OMIM:619565 OMIM:242150 OMIM:619548 OMIM:609313 OMIM:608233 OMIM:617276 OMIM:617050 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:613647 OMIM:618677 OMIM:617169 OMIM:618463 OMIM:143890 OMIM:615558 OMIM:207750 OMIM:269600 OMIM:614723 OMIM:208920 OMIM:125800 OMIM:608097 OMIM:207800 OMIM:615244 OMIM:618459 OMIM:617433 OMIM:617523 OMIM:612291 OMIM:615434 OMIM:618161 OMIM:209900 OMIM:600151 OMIM:613575 OMIM:615685 OMIM:618433 OMIM:617622 OMIM:615926 OMIM:617718 OMIM:250100 OMIM:253200 OMIM:618144 OMIM:619698 OMIM:617020 OMIM:228000 OMIM:159950 OMIM:616867 OMIM:207900 OMIM:615574 OMIM:271900 OMIM:601552 OMIM:608716 OMIM:215700 OMIM:619643 OMIM:618011 OMIM:617183 OMIM:618810 OMIM:601238 OMIM:616517 OMIM:617584 OMIM:619422 OMIM:608688 OMIM:208900 OMIM:221900 OMIM:606693 OMIM:617225 OMIM:265400 OMIM:619602 OMIM:601003 OMIM:601386 OMIM:616045 OMIM:615228 OMIM:618120 OMIM:614053 OMIM:618683 OMIM:619971 OMIM:219200 OMIM:278250 OMIM:602722 OMIM:617403 OMIM:267300 OMIM:617402 OMIM:277900 OMIM:615268 OMIM:243300 OMIM:211600 OMIM:604273 OMIM:210600 OMIM:250950 OMIM:243060 OMIM:618594 OMIM:146110 OMIM:241600 OMIM:615181 OMIM:609465 OMIM:615349 OMIM:271640 OMIM:245600 OMIM:261540 OMIM:609195 OMIM:607091 OMIM:130070 OMIM:615287 OMIM:617120 OMIM:614209 OMIM:614175 OMIM:619232 OMIM:619747 OMIM:614008 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:616562 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615986 OMIM:619641 OMIM:618850 OMIM:617936 OMIM:248600 OMIM:616098 OMIM:262000 OMIM:603358 OMIM:124000 OMIM:618257 OMIM:611809 OMIM:611391 OMIM:607539 OMIM:609432 OMIM:255200 OMIM:210900 OMIM:613502 OMIM:614077 OMIM:619172 OMIM:614171 OMIM:617822 OMIM:614156 OMIM:614856 OMIM:235200 OMIM:608022 OMIM:609441 OMIM:614299 OMIM:222800 OMIM:614078 OMIM:618056 OMIM:614498 OMIM:617883 OMIM:605724 OMIM:613029 OMIM:155255 OMIM:617644 OMIM:616202 OMIM:609054 OMIM:615924 OMIM:269700 OMIM:602522 OMIM:253260 OMIM:619009 OMIM:257300 OMIM:616812 OMIM:618432 OMIM:618221 OMIM:218340 OMIM:619203 OMIM:619202 OMIM:619985 OMIM:614298 OMIM:615043 OMIM:613652 OMIM:617713 OMIM:217000 OMIM:615948 OMIM:619423 OMIM:613779 OMIM:614380 OMIM:609536 OMIM:612446 OMIM:610102 OMIM:613790 OMIM:613789 OMIM:143860 OMIM:259730 OMIM:615751 OMIM:613227 OMIM:614899 OMIM:610427 OMIM:618497 OMIM:614896 OMIM:618501 OMIM:610478 OMIM:616457 OMIM:618773 OMIM:618095 OMIM:251450 OMIM:617719 OMIM:616907 OMIM:619318 OMIM:253600 OMIM:619632 OMIM:615206 OMIM:212050 OMIM:618131 OMIM:618891 OMIM:616672 OMIM:617320 OMIM:607271 OMIM:611938 OMIM:239200 OMIM:616295 OMIM:614097 OMIM:619379 OMIM:612997 OMIM:611102 OMIM:612526 OMIM:613327 OMIM:261000 OMIM:236200 OMIM:613080 OMIM:608443 OMIM:619111 OMIM:612285 OMIM:612284 OMIM:619845 OMIM:235510 OMIM:614679 OMIM:616828 OMIM:619795 OMIM:616816 OMIM:619123 OMIM:620084 OMIM:613807 OMIM:613808 OMIM:618268 OMIM:619803 OMIM:615504 OMIM:614205 OMIM:617507 OMIM:236600 OMIM:208230 OMIM:615872 OMIM:256840 OMIM:609057 OMIM:240500 OMIM:613493 OMIM:610163 OMIM:615122 OMIM:613646 OMIM:608404 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:619238 OMIM:606843 OMIM:612922 OMIM:226300 OMIM:612300 OMIM:618261 OMIM:613501 OMIM:612692 OMIM:613496 OMIM:608957 OMIM:224120 OMIM:608653 OMIM:619302 OMIM:617063 OMIM:613805 OMIM:616910 OMIM:211380 OMIM:619957 OMIM:601067 OMIM:225280 OMIM:601553 OMIM:613660 OMIM:615631 OMIM:617694 OMIM:616342 OMIM:604804 OMIM:616080 OMIM:270300 OMIM:613804 OMIM:618410 OMIM:260570 OMIM:245480 OMIM:616051 OMIM:243605 OMIM:608393 OMIM:613676 OMIM:618702 OMIM:619988 OMIM:616781 OMIM:619044 OMIM:617761 OMIM:616300 OMIM:614673 OMIM:614852 OMIM:613823 OMIM:614845 OMIM:615703 OMIM:618358 OMIM:615991 OMIM:610188 OMIM:611755 OMIM:611134 OMIM:610189 OMIM:614464 OMIM:236500 OMIM:614114 OMIM:614728 OMIM:617236 OMIM:615862 OMIM:608380 OMIM:616230 OMIM:615023 OMIM:618152 OMIM:615500 OMIM:618063 OMIM:617547 OMIM:602271 OMIM:617406 OMIM:614500 OMIM:617592 OMIM:617593 OMIM:619608 OMIM:619607 OMIM:614779 OMIM:619144 OMIM:618664 OMIM:617959 OMIM:618670 OMIM:619177 OMIM:615561 OMIM:613912 OMIM:609814 OMIM:235400 OMIM:610984 OMIM:610687 OMIM:219700 OMIM:277180 OMIM:254210 OMIM:620023 OMIM:602541 OMIM:614961 OMIM:618438 OMIM:100100 OMIM:253290 OMIM:608930 OMIM:191800 OMIM:616314 OMIM:616322 OMIM:616323 OMIM:605809 OMIM:616324 OMIM:608931 OMIM:265000 OMIM:618167 OMIM:601776 OMIM:143095 OMIM:217800 OMIM:616265 OMIM:605282 OMIM:619339 OMIM:613630 OMIM:618267 OMIM:609439 OMIM:614869 OMIM:618219 OMIM:615238 OMIM:209920 OMIM:612651 OMIM:619702 OMIM:604928 OMIM:617090 OMIM:272440 OMIM:609913 OMIM:610313 OMIM:255700 OMIM:615651 OMIM:619517 OMIM:611490 OMIM:607364 OMIM:607626 OMIM:617671 OMIM:614035 OMIM:248250 OMIM:248190 OMIM:619093 OMIM:613108 OMIM:616042 OMIM:615237 OMIM:204200 OMIM:256731 OMIM:204300 OMIM:601780 OMIM:600143 OMIM:610003 OMIM:615803 OMIM:616271 OMIM:614129 OMIM:614180 OMIM:276902 OMIM:619174 OMIM:613756 OMIM:216900 OMIM:613767 OMIM:262300 OMIM:616418 OMIM:217080 OMIM:619071 OMIM:617929 OMIM:612540 OMIM:615400 OMIM:616286 OMIM:618186 OMIM:610042 OMIM:619058 OMIM:616500 OMIM:616501 OMIM:618387 OMIM:619061 OMIM:615643 OMIM:618266 OMIM:618094 OMIM:611209 OMIM:617395 OMIM:613489 OMIM:613612 OMIM:614576 OMIM:615328 OMIM:608779 OMIM:611182 OMIM:228520 OMIM:609706 OMIM:614524 OMIM:215150 OMIM:616470 OMIM:616720 OMIM:619787 OMIM:267750 OMIM:225320 OMIM:616219 OMIM:615155 OMIM:618343 OMIM:203780 OMIM:158810 OMIM:254090 OMIM:255600 OMIM:616411 OMIM:226600 OMIM:131850 OMIM:604129 OMIM:131705 OMIM:614134 OMIM:614284 OMIM:620022 OMIM:248340 OMIM:265050 OMIM:618360 OMIM:603034 OMIM:619255 OMIM:617800 OMIM:607426 OMIM:146500 OMIM:616276 OMIM:619028 OMIM:614650 OMIM:616733 OMIM:612016 OMIM:615573 OMIM:614654 OMIM:615401 OMIM:619046 OMIM:619053 OMIM:615119 OMIM:619355 OMIM:619054 OMIM:619060 OMIM:612714 OMIM:619064 OMIM:616039 OMIM:619062 OMIM:619051 OMIM:619059 OMIM:604290 OMIM:614417 OMIM:614418 OMIM:617319 OMIM:619326 OMIM:614615 OMIM:277170 OMIM:617976 OMIM:212070 OMIM:618892 OMIM:237300 OMIM:619876 OMIM:255120 OMIM:600649 OMIM:608836 OMIM:255110 OMIM:614212 OMIM:614699 OMIM:614499 OMIM:617917 OMIM:613835 OMIM:600105 OMIM:616220 OMIM:219730 OMIM:607417 OMIM:616229 OMIM:615789 OMIM:272430 OMIM:614643 OMIM:616052 OMIM:610682 OMIM:613829 OMIM:604219 OMIM:613763 OMIM:613869 OMIM:611544 OMIM:609741 OMIM:618476 OMIM:614370 OMIM:617014 OMIM:618870 OMIM:615636 OMIM:618535 OMIM:607936 OMIM:254800 OMIM:612199 OMIM:604168 OMIM:219500 OMIM:618174 OMIM:619846 OMIM:219750 OMIM:219900 OMIM:219800 OMIM:615897 OMIM:256540 OMIM:245010 OMIM:245000 OMIM:170650 OMIM:610127 OMIM:615362 OMIM:265800 OMIM:618142 OMIM:261100 OMIM:273750 OMIM:250410 OMIM:616127 OMIM:619407 OMIM:618182 OMIM:250790 OMIM:250800 OMIM:233690 OMIM:618935 OMIM:615453 OMIM:202010 OMIM:203400 OMIM:610600 OMIM:202110 OMIM:613546 OMIM:617315 OMIM:231300 OMIM:600975 OMIM:201910 OMIM:143880 OMIM:614416 OMIM:614974 OMIM:213700 OMIM:264700 OMIM:608902 OMIM:600081 OMIM:615030 OMIM:604777 OMIM:210370 OMIM:613812 OMIM:270800 OMIM:600721 OMIM:619263 OMIM:616538 OMIM:613818 OMIM:618910 OMIM:615281 OMIM:611105 OMIM:223360 OMIM:619441 OMIM:241080 OMIM:617542 OMIM:610212 OMIM:616217 OMIM:617394 OMIM:601390 OMIM:603554 OMIM:602450 OMIM:616459 OMIM:619165 OMIM:105400 OMIM:278740 OMIM:608643 OMIM:609340 OMIM:615033 OMIM:614507 OMIM:271665 OMIM:602557 OMIM:613398 OMIM:174300 OMIM:617171 OMIM:619573 OMIM:618404 OMIM:617281 OMIM:601419 OMIM:615863 OMIM:615008 OMIM:251880 OMIM:617068 OMIM:617070 OMIM:602398 OMIM:270400 OMIM:613861 OMIM:613839 OMIM:607080 OMIM:233420 OMIM:263750 OMIM:618480 OMIM:204750 OMIM:618731 OMIM:618220 OMIM:616632 OMIM:267000 OMIM:245348 OMIM:246900 OMIM:277300 OMIM:220600 OMIM:605850 OMIM:241520 OMIM:618663 OMIM:616113 OMIM:615807 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:617577 OMIM:617576 OMIM:619515 OMIM:611884 OMIM:618643 OMIM:619094 OMIM:608644 OMIM:619095 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:617091 OMIM:614881 OMIM:617384 OMIM:610198 OMIM:617052 OMIM:260400 OMIM:616192 OMIM:619382 OMIM:615528 OMIM:614017 OMIM:616059 OMIM:614420 OMIM:619858 OMIM:619712 OMIM:614388 OMIM:615368 OMIM:618415 OMIM:242860 OMIM:616433 OMIM:618292 OMIM:614219 OMIM:615859 OMIM:243700 OMIM:620066 OMIM:618389 OMIM:254300 OMIM:610768 OMIM:617604 OMIM:251230 OMIM:608093 OMIM:614750 OMIM:616901 OMIM:620062 OMIM:608799 OMIM:615042 OMIM:618992 OMIM:612937 OMIM:613958 OMIM:274270 OMIM:222748 OMIM:616502 OMIM:615294 OMIM:610476 OMIM:613102 OMIM:615539 OMIM:615508 OMIM:612877 OMIM:619226 OMIM:607903 OMIM:605676 OMIM:609638 OMIM:607655 OMIM:615425 OMIM:614653 OMIM:270750 OMIM:614076 OMIM:619847 OMIM:607200 OMIM:274900 OMIM:620044 OMIM:223800 OMIM:607326 OMIM:618492 OMIM:613091 OMIM:615503 OMIM:615633 OMIM:617088 OMIM:617405 OMIM:254130 OMIM:253601 OMIM:606768 OMIM:619102 OMIM:617610 OMIM:614924 OMIM:615065 OMIM:616277 OMIM:247100 OMIM:224900 OMIM:614941 OMIM:616460 OMIM:619493 OMIM:615706 OMIM:613265 OMIM:600501 OMIM:277580 OMIM:614437 OMIM:617941 OMIM:611718 OMIM:616069 OMIM:145900 OMIM:605253 OMIM:226980 OMIM:234810 OMIM:603896 OMIM:618295 OMIM:268305 OMIM:615440 OMIM:606893 OMIM:615429 OMIM:614457 OMIM:223900 OMIM:617270 OMIM:616875 OMIM:619264 OMIM:211180 OMIM:600348 OMIM:615861 OMIM:619218 OMIM:204650 OMIM:612932 OMIM:208000 OMIM:613312 OMIM:615683 OMIM:615297 OMIM:611804 OMIM:612690 OMIM:613217 OMIM:242840 OMIM:618462 OMIM:254780 OMIM:617911 OMIM:617951 OMIM:615974 OMIM:617637 OMIM:617565 OMIM:619465 OMIM:607598 OMIM:243180 OMIM:610758 OMIM:610756 OMIM:601675 OMIM:278730 OMIM:616390 OMIM:610651 OMIM:615272 OMIM:278760 OMIM:610965 OMIM:616570 OMIM:278780 OMIM:214150 OMIM:133540 OMIM:278800 OMIM:600630 OMIM:615715 OMIM:216400 OMIM:614621 OMIM:208100 OMIM:615681 OMIM:611225 OMIM:216100 OMIM:268300 OMIM:609006 OMIM:618632 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OMIM:617205 OMIM:618821 OMIM:263200 OMIM:266200 OMIM:604536 OMIM:618372 OMIM:256600 OMIM:610217 OMIM:612953 OMIM:614278 OMIM:617527 OMIM:613722 OMIM:618961 OMIM:614669 OMIM:151600 OMIM:610725 OMIM:619895 OMIM:617214 OMIM:212093 OMIM:226670 OMIM:616487 OMIM:612138 OMIM:613723 OMIM:616763 OMIM:615376 OMIM:611067 OMIM:611497 OMIM:217090 OMIM:616171 OMIM:225400 OMIM:609220 OMIM:612394 OMIM:617290 OMIM:618183 OMIM:619955 OMIM:618112 OMIM:212065 OMIM:213200 OMIM:617954 OMIM:619101 OMIM:616267 OMIM:613402 OMIM:619528 OMIM:614338 OMIM:613179 OMIM:615024 OMIM:610717 OMIM:215470 OMIM:245800 OMIM:275400 OMIM:612020 OMIM:251950 OMIM:610090 OMIM:614932 OMIM:614934 OMIM:614813 OMIM:615973 OMIM:617232 OMIM:615139 OMIM:618336 OMIM:603041 OMIM:203700 OMIM:613662 OMIM:258450 OMIM:607459 OMIM:618528 OMIM:619425 OMIM:278750 OMIM:616494 OMIM:248390 OMIM:613717 OMIM:607694 OMIM:264090 OMIM:614381 OMIM:619234 OMIM:619310 OMIM:619743 OMIM:609734 OMIM:253280 OMIM:613151 OMIM:613157 OMIM:617123 OMIM:614830 OMIM:618135 OMIM:615249 OMIM:616094 OMIM:601952 OMIM:613155 OMIM:609308 OMIM:613150 OMIM:613156 OMIM:613158 OMIM:617396 OMIM:618848 OMIM:201750 OMIM:613571 OMIM:613038 OMIM:617223 OMIM:617222 OMIM:618189 OMIM:620024 OMIM:259440 OMIM:619301 OMIM:618422 OMIM:615135 OMIM:616817 OMIM:619383 OMIM:618419 OMIM:256730 OMIM:610599 OMIM:616488 OMIM:619909 OMIM:619761 OMIM:614170 OMIM:616640 OMIM:619862 OMIM:616224 OMIM:603553 OMIM:208250 OMIM:612437 OMIM:620005 OMIM:616176 OMIM:615559 OMIM:615966 OMIM:619636 OMIM:619638 OMIM:600116 OMIM:612067 OMIM:615555 OMIM:617157 OMIM:612304 OMIM:239500 OMIM:612657 OMIM:612095 OMIM:262600 OMIM:619737 OMIM:614514 OMIM:136880 OMIM:608133 OMIM:202650 OMIM:249500 OMIM:613517 OMIM:617481 OMIM:614895 OMIM:611721 OMIM:610539 OMIM:611722 OMIM:249900 OMIM:616038 OMIM:610992 OMIM:620038 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:620071 OMIM:619354 OMIM:614324 OMIM:619183 OMIM:614023 OMIM:619057 OMIM:615935 OMIM:609069 OMIM:208550 OMIM:146200 OMIM:215045 OMIM:600002 OMIM:613611 OMIM:618890 OMIM:619924 OMIM:616001 OMIM:614196 OMIM:613391 OMIM:616263 OMIM:261640 OMIM:600462 OMIM:617051 OMIM:618342 OMIM:269400 OMIM:612940 OMIM:614438 OMIM:616420 OMIM:232700 OMIM:232600 OMIM:617258 OMIM:615760 OMIM:261630 OMIM:618341 OMIM:618835 OMIM:614222 OMIM:201000 OMIM:607624 OMIM:615374 OMIM:615222 OMIM:619420 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:618987 OMIM:619789 OMIM:611376 OMIM:613078 OMIM:613390 OMIM:233650 OMIM:601457 OMIM:618797 OMIM:618388 OMIM:616326 OMIM:615524 OMIM:616140 OMIM:611523 OMIM:618534 OMIM:615888 OMIM:611038 OMIM:620102 OMIM:251255 OMIM:606744 OMIM:615895 OMIM:619690 OMIM:612079 OMIM:274000 OMIM:615233 OMIM:615147 OMIM:617175 OMIM:610612 OMIM:616108 OMIM:612712 OMIM:611022 OMIM:619176 OMIM:218600 OMIM:266280 OMIM:268400 OMIM:620011 OMIM:615625 OMIM:617304 OMIM:619652 OMIM:617585 OMIM:257320 OMIM:618386 OMIM:617916 OMIM:613115 OMIM:614575 OMIM:612015 OMIM:617784 OMIM:615710 OMIM:613769 OMIM:608415 OMIM:613731 OMIM:618307 OMIM:618761 OMIM:618970 OMIM:613075 OMIM:618641 OMIM:618108 OMIM:214350 OMIM:263650 OMIM:616515 OMIM:616566 OMIM:607475 OMIM:607476 OMIM:614922 OMIM:607095 OMIM:250250 OMIM:250460 OMIM:616479 OMIM:610333 OMIM:610181 OMIM:610329 OMIM:612951 OMIM:611943 OMIM:619686 OMIM:619673 OMIM:607151 OMIM:212840 OMIM:619688 OMIM:618160 OMIM:226960 OMIM:210710 OMIM:616651 OMIM:619487 OMIM:607313 OMIM:226750 OMIM:617654 OMIM:268310 OMIM:616622 OMIM:180100 OMIM:618826 OMIM:204100 OMIM:613794 OMIM:608194 OMIM:613826 OMIM:619113 OMIM:611560 OMIM:611561 OMIM:608611 OMIM:619689 OMIM:619371 OMIM:612075 OMIM:268315 OMIM:619453 OMIM:615481 OMIM:616481 OMIM:612649 OMIM:612650 OMIM:610644 OMIM:618022 OMIM:618021 OMIM:206800 OMIM:616723 OMIM:618402 OMIM:615190 OMIM:616732 OMIM:614833 OMIM:615705 OMIM:617773 OMIM:615041 OMIM:117000 OMIM:255320 OMIM:610419 OMIM:270550 OMIM:258100 OMIM:613758 OMIM:216820 OMIM:610455 OMIM:252270 OMIM:612952 OMIM:246700 OMIM:617709 OMIM:613845 OMIM:618373 OMIM:616402 OMIM:615284 OMIM:604563 OMIM:607330 OMIM:618195 OMIM:254900 OMIM:600920 OMIM:617350 OMIM:614198 OMIM:608567 OMIM:272120 OMIM:243000 OMIM:620107 OMIM:264350 OMIM:619048 OMIM:604377 OMIM:613724 OMIM:619184 OMIM:616719 OMIM:618766 OMIM:615993 OMIM:613615 OMIM:613642 OMIM:252011 OMIM:619166 OMIM:619224 OMIM:619167 OMIM:617574 OMIM:607812 OMIM:224100 OMIM:616294 OMIM:618651 OMIM:609698 OMIM:618148 OMIM:618768 OMIM:602771 OMIM:610283 OMIM:610282 OMIM:619874 OMIM:613811 OMIM:614739 OMIM:613490 OMIM:611489 OMIM:613453 OMIM:615598 OMIM:617115 OMIM:613118 OMIM:613329 OMIM:613982 OMIM:262850 OMIM:106100 OMIM:613848 OMIM:606002 OMIM:265900 OMIM:265120 OMIM:615578 OMIM:608099 OMIM:604286 OMIM:601287 OMIM:253700 OMIM:616201 OMIM:617575 OMIM:252900 OMIM:249420 OMIM:601596 OMIM:619121 OMIM:619949 OMIM:249700 OMIM:619921 OMIM:619922 OMIM:222900 OMIM:614373 OMIM:605726 OMIM:618162 OMIM:248800 OMIM:616851 OMIM:212550 OMIM:614602 OMIM:222470 OMIM:619256 OMIM:613291 OMIM:618363 OMIM:206100 OMIM:601678 OMIM:619080 OMIM:263800 OMIM:616645 OMIM:218000 OMIM:618384 OMIM:615905 OMIM:616095 OMIM:269920 OMIM:604369 OMIM:618049 OMIM:617239 OMIM:601775 OMIM:249270 OMIM:607483 OMIM:222730 OMIM:616657 OMIM:220150 OMIM:268210 OMIM:212140 OMIM:613830 OMIM:615887 OMIM:113750 OMIM:615182 OMIM:618197 OMIM:618972 OMIM:612949 OMIM:603471 OMIM:605814 OMIM:238970 OMIM:607196 OMIM:613710 OMIM:212138 OMIM:618811 OMIM:609304 OMIM:616794 OMIM:610773 OMIM:616839 OMIM:205950 OMIM:615418 OMIM:618416 OMIM:616505 OMIM:619303 OMIM:167030 OMIM:600972 OMIM:256050 OMIM:222600 OMIM:226900 OMIM:214700 OMIM:613865 OMIM:608649 OMIM:602782 OMIM:606777 OMIM:208050 OMIM:227810 OMIM:612076 OMIM:613280 OMIM:617595 OMIM:614482 OMIM:613388 OMIM:616963 OMIM:265100 OMIM:241530 OMIM:603585 OMIM:615553 OMIM:266265 OMIM:269250 OMIM:242600 OMIM:232220 OMIM:232240 OMIM:619881 OMIM:609218 OMIM:612350 OMIM:617013 OMIM:201100 OMIM:619693 OMIM:616721 OMIM:220100 OMIM:619468 OMIM:618868 OMIM:617532 OMIM:606574 OMIM:229050 OMIM:611590 OMIM:217400 OMIM:217700 OMIM:604278 OMIM:619484 OMIM:619481 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:606824 OMIM:233100 OMIM:274400 OMIM:619903 OMIM:618973 OMIM:617143 OMIM:616269 OMIM:234500 OMIM:613135 OMIM:614618 OMIM:617301 OMIM:615725 OMIM:619191 OMIM:222700 OMIM:616291 OMIM:616868 OMIM:614441 OMIM:221200 OMIM:248300 OMIM:613951 OMIM:619657 OMIM:242900 OMIM:617475 OMIM:619268 OMIM:619995 OMIM:616920 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:241800 OMIM:206920 OMIM:125400 OMIM:257200 OMIM:607616 OMIM:618622 OMIM:608890 OMIM:609528 OMIM:614501 OMIM:614561 OMIM:615085 OMIM:616354 OMIM:613671 OMIM:618598 OMIM:617690 OMIM:618912 OMIM:269500 OMIM:607823 OMIM:235550 OMIM:613849 OMIM:615505 OMIM:619380 OMIM:616507 OMIM:275900 OMIM:102530 OMIM:616577 OMIM:619615 OMIM:619616 OMIM:604232 OMIM:618751 OMIM:615959 OMIM:602099 OMIM:616668 OMIM:604360 OMIM:248900 OMIM:607259 OMIM:619665 OMIM:608189 OMIM:618091 OMIM:256500 OMIM:270420 OMIM:618457 OMIM:619549 OMIM:612716 OMIM:619745 OMIM:616200 OMIM:266140 OMIM:270970 OMIM:615386 OMIM:617519 OMIM:619221 OMIM:617145 OMIM:619595 OMIM:264600 OMIM:612379 OMIM:612713 OMIM:602400 OMIM:615006 OMIM:611090 OMIM:609056 OMIM:255995 OMIM:615723 OMIM:619672 OMIM:614261 OMIM:201710 OMIM:613796 OMIM:616636 OMIM:618886 OMIM:245590 OMIM:612703 OMIM:612783 OMIM:619436 OMIM:614868 OMIM:617341 OMIM:601186 OMIM:611087 OMIM:603720 OMIM:615596 OMIM:615597 OMIM:615768 OMIM:603552 OMIM:619445 OMIM:619446 OMIM:613101 OMIM:612073 OMIM:245400 OMIM:617757 OMIM:231690 OMIM:617571 OMIM:272200 OMIM:617187 OMIM:272300 OMIM:616684 OMIM:220110 OMIM:618569 OMIM:619040 OMIM:616947 OMIM:616950 OMIM:258150 OMIM:618484 OMIM:610743 OMIM:615540 OMIM:617389 OMIM:615530 OMIM:614229 OMIM:619461 OMIM:615476 OMIM:614839 OMIM:619052 OMIM:614840 OMIM:204870 OMIM:617432 OMIM:615599 OMIM:615841 OMIM:617126 OMIM:619972 OMIM:606003 OMIM:616878 OMIM:604571 OMIM:616897 OMIM:618546 OMIM:615918 OMIM:618950 OMIM:276600 OMIM:615663 OMIM:617695 OMIM:614617 OMIM:220500 OMIM:608105 OMIM:615338 OMIM:605021 OMIM:619323 OMIM:248000 OMIM:617193 OMIM:617207 OMIM:241410 OMIM:244460 OMIM:616900 OMIM:260660 OMIM:201400 OMIM:619630 OMIM:601360 OMIM:122600 OMIM:231095 OMIM:615709 OMIM:601954 OMIM:619824 OMIM:617252 OMIM:259700 OMIM:275350 OMIM:614173 OMIM:616654 OMIM:613885 OMIM:614815 OMIM:258860 OMIM:607250 OMIM:616949 OMIM:613887 OMIM:618110 OMIM:615031 OMIM:614020 OMIM:614021 OMIM:603629 OMIM:616954 OMIM:615145 OMIM:617952 OMIM:619646 OMIM:619645 OMIM:613989 OMIM:619126 OMIM:618798 OMIM:617707 OMIM:617960 OMIM:209300 OMIM:617156 OMIM:615658 OMIM:604250 OMIM:616740 OMIM:274700 OMIM:616145 OMIM:618213 OMIM:242300 OMIM:617251 OMIM:609796 OMIM:605407 OMIM:618800 OMIM:613680 OMIM:274300 OMIM:619989 OMIM:604454 OMIM:619908 OMIM:614850 OMIM:618851 OMIM:617698 OMIM:618251 OMIM:615878 OMIM:607748 OMIM:609560 OMIM:617069 OMIM:618805 OMIM:617044 OMIM:619531 OMIM:616814 OMIM:613002 OMIM:600974 OMIM:226400 OMIM:618231 OMIM:213980 OMIM:617562 OMIM:617563 OMIM:612989 OMIM:618250 OMIM:618481 OMIM:614465 OMIM:620075 OMIM:614727 OMIM:616829 OMIM:608091 OMIM:603194 OMIM:619562 OMIM:619470 OMIM:614970 OMIM:615397 OMIM:614424 OMIM:617478 OMIM:615066 OMIM:619727 OMIM:619966 OMIM:216360 OMIM:610688 OMIM:607361 OMIM:613550 OMIM:602152 OMIM:614052 OMIM:618316 OMIM:600971 OMIM:226200 OMIM:601072 OMIM:206200 OMIM:617255 OMIM:618730 OMIM:612301 OMIM:239000 OMIM:613494 OMIM:615593 OMIM:259710 OMIM:617028 OMIM:611880 OMIM:605355 OMIM:619653 OMIM:606408 OMIM:614969 OMIM:619185 OMIM:271510 OMIM:618097 OMIM:618098 OMIM:618947 OMIM:617072 OMIM:617730 OMIM:619466 OMIM:615512 OMIM:614458 OMIM:609284 OMIM:610460 OMIM:274500 OMIM:204500 OMIM:609270 OMIM:619220 OMIM:617731 OMIM:613307 OMIM:615387 OMIM:616629 OMIM:615527 OMIM:616777 OMIM:618201 OMIM:620027 OMIM:615356 OMIM:617669 OMIM:618351 OMIM:618331 OMIM:618741 OMIM:617862 OMIM:613192 OMIM:615441 OMIM:612119 OMIM:618193 OMIM:225750 OMIM:275120 OMIM:618573 OMIM:615490 OMIM:615988 OMIM:254110 OMIM:206500 OMIM:253250 OMIM:609823 OMIM:200600 OMIM:184260 OMIM:617598 OMIM:619011 OMIM:617066 OMIM:616866 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:616974 OMIM:616539 OMIM:613070 OMIM:616959 OMIM:616084 OMIM:613216 OMIM:602014 OMIM:618188 OMIM:617026 OMIM:612389 OMIM:612390 OMIM:277470 OMIM:225753 OMIM:610204 OMIM:610505 OMIM:617961 OMIM:275100 OMIM:275200 OMIM:614861 OMIM:618180 OMIM:608800 OMIM:618801 OMIM:615157 OMIM:618429 OMIM:613820 OMIM:613819 OMIM:619534 OMIM:618745 OMIM:619244 OMIM:243150 OMIM:615985 OMIM:613464 OMIM:615541 OMIM:615860 OMIM:608807 OMIM:611705 OMIM:277460 OMIM:616188 OMIM:616780 OMIM:618737 OMIM:616335 OMIM:251270 OMIM:610678 OMIM:613843 OMIM:600132 OMIM:619902 OMIM:611093 OMIM:227260 OMIM:271245 OMIM:616138 OMIM:616811 OMIM:619879 OMIM:608572 OMIM:617825 OMIM:611521 OMIM:203100 OMIM:606952 OMIM:221770 OMIM:203290 OMIM:617132 OMIM:617133 OMIM:616435 OMIM:244450 OMIM:619639 OMIM:243800 OMIM:619189 OMIM:615491 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618792 OMIM:618744 OMIM:218800 OMIM:606785 OMIM:237900 OMIM:258900 OMIM:608898 OMIM:619377 OMIM:616801 OMIM:610551 OMIM:608106 OMIM:613161 OMIM:615824 OMIM:616111 OMIM:615158 OMIM:615160 OMIM:618775 OMIM:615159 OMIM:276880 OMIM:263700 OMIM:604173 OMIM:602092 OMIM:276904 OMIM:606943 OMIM:613809 OMIM:617397 OMIM:618513 OMIM:619658 OMIM:614640 OMIM:617054 OMIM:618323 OMIM:617802 OMIM:615917 OMIM:614402 OMIM:277440 OMIM:263400 OMIM:613404 OMIM:607473 OMIM:224050 OMIM:619637 OMIM:616683 OMIM:200150 OMIM:216550 OMIM:616840 OMIM:607317 OMIM:617303 OMIM:620009 OMIM:620010 OMIM:208085 OMIM:619135 OMIM:614898 OMIM:619389 OMIM:615285 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:607596 OMIM:610093 OMIM:610092 OMIM:619216 OMIM:616948 OMIM:613554 OMIM:277480 OMIM:617710 OMIM:619738 OMIM:615817 OMIM:220210 OMIM:617639 OMIM:615992 OMIM:217085 OMIM:150550 OMIM:619867 OMIM:614378 OMIM:614377 OMIM:616307 OMIM:614376 OMIM:613610 OMIM:614091 OMIM:618347 OMIM:618346 OMIM:617977 OMIM:604317 OMIM:613211 OMIM:251300 OMIM:610185 OMIM:617967 OMIM:617996 OMIM:222300 OMIM:607084 OMIM:611383 OMIM:614493 OMIM:618453 OMIM:619648 OMIM:615220 OMIM:257980 OMIM:224750 OMIM:150400 OMIM:225300 OMIM:618168 OMIM:273395 OMIM:611812 OMIM:228930 OMIM:276820 OMIM:613988 OMIM:277700 OMIM:616211 OMIM:614322 OMIM:278300 OMIM:278700 OMIM:278720 OMIM:613159 OMIM:617633 OMIM:617247 OMIM:619146 OMIM:619145 OMIM:616541 OMIM:615777 OMIM:605822 OMIM:619418 OMIM:613561 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:619609 OMIM:602531 OMIM:617006 OMIM:269840 OMIM:618383 OMIM:614069 OMIM:616248 OMIM:617125 OMIM:619849 OMIM:270700 OMIM:608612 OMIM:275210 OMIM:615444 OMIM:615842 OMIM:615226 OMIM:618425 OMIM:615095 OMIM:618282 OMIM:619557 OMIM:616469 OMIM:614844 OMIM:229200 OMIM:613617 OMIM:619877 OMIM:619488 OMIM:619644 OMIM:260565 OMIM:615774 OMIM:618353 OMIM:619799 OMIM:619321 OMIM:619834 OMIM:619831
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.