Human Phenotype Ontology 
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All (HP:0000001)help
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
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
..expandGonosomal inheritance (HP:0010985) help
..expandHeterogeneous (HP:0001425) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000007HP:0000007Autosomal recessive inheritance0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0000007HP:0000007Autosomal recessive inheritance0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0000007HP:0000007Autosomal recessive inheritance0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM133821022612035
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM138721022612035
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM19717366605113
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM110817366605113
HP:0000007HP:0000007Autosomal recessive inheritance0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM141723137150
HP:0000007HP:0000007Autosomal recessive inheritance0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM150723137150
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H26154601277Autosomal recessive congenital ichthyosis 4A601277C1832550OMIM133614637607800
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H26154601277Autosomal recessive congenital ichthyosis 4A601277C1832550OMIM136114637607800
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM133614637607800
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM136114637607800
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM141833601615
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM145433601615
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24248200Stargardt disease 1248200C1855465OMIM1212834601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24248200Stargardt disease 1248200C1855465OMIM1253434601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM176242603201
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM180842603201
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM176242603201
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM180842603201
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC2 CL E G H1244237500Dubin-Johnson syndrome237500C0022350OMIM142153601107
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC2 CL E G H1244237500Dubin-Johnson syndrome237500C0022350OMIM142453601107
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H368614473Generalized arterial calcification of infancy 2614473C3276161OMIM191457603234
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H368614473Generalized arterial calcification of infancy 2614473C3276161OMIM1113757603234
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM1112559600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM1125359600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM127913886605459
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM130213886605459
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM138913887605460
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM141713887605460
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM117321396604780
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM118421396604780
HP:0000007HP:0000007Autosomal recessive inheritance0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0000007HP:0000007Autosomal recessive inheritance0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM126987604773
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM129187604773
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0000007HP:0000007Autosomal recessive inheritance0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0000007HP:0000007Autosomal recessive inheritance0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0000007HP:0000007Autosomal recessive inheritance0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0000007HP:0000007Autosomal recessive inheritance0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0000007HP:0000007Autosomal recessive inheritance0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM127591600301
HP:0000007HP:0000007Autosomal recessive inheritance0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM129091600301
HP:0000007HP:0000007Autosomal recessive inheritance0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0000007HP:0000007Autosomal recessive inheritance0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0000007HP:0000007Autosomal recessive inheritance0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM1359319155760
HP:0000007HP:0000007Autosomal recessive inheritance0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM1456319155760
HP:0000007HP:0000007Autosomal recessive inheritance0ACAT1 CL E G H38203750Deficiency of acetyl-CoA acetyltransferase203750C1536500OMIM136693607809
HP:0000007HP:0000007Autosomal recessive inheritance0ACAT1 CL E G H38203750Deficiency of acetyl-CoA acetyltransferase203750C1536500OMIM141293607809
HP:0000007HP:0000007Autosomal recessive inheritance0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM122925070609377
HP:0000007HP:0000007Autosomal recessive inheritance0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM132125070609377
HP:0000007HP:0000007Autosomal recessive inheritance0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM12742707106180
HP:0000007HP:0000007Autosomal recessive inheritance0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM12952707106180
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000007HP:0000007Autosomal recessive inheritance0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM125123171650
HP:0000007HP:0000007Autosomal recessive inheritance0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM127123171650
HP:0000007HP:0000007Autosomal recessive inheritance0ACP4 CL E G H93650617297Amelogenesis imperfecta, type IJ617297C4310630OMIM13014376606362
HP:0000007HP:0000007Autosomal recessive inheritance0ACP4 CL E G H93650617297Amelogenesis imperfecta, type IJ617297C4310630OMIM13114376606362
HP:0000007HP:0000007Autosomal recessive inheritance0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1149124171640
HP:0000007HP:0000007Autosomal recessive inheritance0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1197124171640
HP:0000007HP:0000007Autosomal recessive inheritance0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM157027288614245
HP:0000007HP:0000007Autosomal recessive inheritance0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM161527288614245
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0000007HP:0000007Autosomal recessive inheritance0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0000007HP:0000007Autosomal recessive inheritance0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0000007HP:0000007Autosomal recessive inheritance0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0000007HP:0000007Autosomal recessive inheritance0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0000007HP:0000007Autosomal recessive inheritance0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0000007HP:0000007Autosomal recessive inheritance0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM13101839607575
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM13901839607575
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM13101839607575
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM13901839607575
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1257216602713
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1315216602713
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS13 CL E G H11093274150Upshaw-Schulman syndrome274150C1268935OMIM13431366604134
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS13 CL E G H11093274150Upshaw-Schulman syndrome274150C1268935OMIM13521366604134
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM147117110607512
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM166717110607512
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM123219706610113
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM138619706610113
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H54507225100Ectopia lentis, isolated autosomal recessive225100C2673634OMIM123219706610113
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H54507225100Ectopia lentis, isolated autosomal recessive225100C2673634OMIM138619706610113
HP:0000007HP:0000007Autosomal recessive inheritance0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0000007HP:0000007Autosomal recessive inheritance0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0000007HP:0000007Autosomal recessive inheritance0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM17625151615302
HP:0000007HP:0000007Autosomal recessive inheritance0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM18525151615302
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY1 CL E G H107610154Deafness, autosomal recessive 44610154C1857809OMIM1123232103072
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY1 CL E G H107610154Deafness, autosomal recessive 44610154C1857809OMIM1140232103072
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM168237600294
HP:0000007HP:0000007Autosomal recessive inheritance0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM152245601568
HP:0000007HP:0000007Autosomal recessive inheritance0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM188245601568
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM14944512604110
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM15364512604110
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM14944512604110
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM15364512604110
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19213841612243
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19313841612243
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRV1 CL E G H84059605472Usher syndrome, type 2C605472C2931213OMIM1245917416602851
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRV1 CL E G H84059605472Usher syndrome, type 2C605472C2931213OMIM1316817416602851
HP:0000007HP:0000007Autosomal recessive inheritance0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0000007HP:0000007Autosomal recessive inheritance0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0000007HP:0000007Autosomal recessive inheritance0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000007HP:0000007Autosomal recessive inheritance0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000007HP:0000007Autosomal recessive inheritance0ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0000007HP:0000007Autosomal recessive inheritance0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0000007HP:0000007Autosomal recessive inheritance0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0000007HP:0000007Autosomal recessive inheritance0AFP CL E G H174615969Alpha-fetoprotein deficiency615969C1863081OMIM133317104150
HP:0000007HP:0000007Autosomal recessive inheritance0AFP CL E G H174615969Alpha-fetoprotein deficiency615969C1863081OMIM134317104150
HP:0000007HP:0000007Autosomal recessive inheritance0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0000007HP:0000007Autosomal recessive inheritance0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0000007HP:0000007Autosomal recessive inheritance0AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000007HP:0000007Autosomal recessive inheritance0AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H55750614691Cataract, autosomal recessive congenital 5614691C3553494OMIM122021869610345
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H55750614691Cataract, autosomal recessive congenital 5614691C3553494OMIM123621869610345
HP:0000007HP:0000007Autosomal recessive inheritance0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0000007HP:0000007Autosomal recessive inheritance0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0000007HP:0000007Autosomal recessive inheritance0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0000007HP:0000007Autosomal recessive inheritance0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0000007HP:0000007Autosomal recessive inheritance0AGPS CL E G H8540600121Rhizomelic chondrodysplasia punctata type 3600121C1838612OMIM1376327603051
HP:0000007HP:0000007Autosomal recessive inheritance0AGPS CL E G H8540600121Rhizomelic chondrodysplasia punctata type 3600121C1838612OMIM1400327603051
HP:0000007HP:0000007Autosomal recessive inheritance0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0000007HP:0000007Autosomal recessive inheritance0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0000007HP:0000007Autosomal recessive inheritance0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1143333106150
HP:0000007HP:0000007Autosomal recessive inheritance0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1153333106150
HP:0000007HP:0000007Autosomal recessive inheritance0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM188336106165
HP:0000007HP:0000007Autosomal recessive inheritance0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1103336106165
HP:0000007HP:0000007Autosomal recessive inheritance0AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1563341604285
HP:0000007HP:0000007Autosomal recessive inheritance0AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1599341604285
HP:0000007HP:0000007Autosomal recessive inheritance0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1113343180960
HP:0000007HP:0000007Autosomal recessive inheritance0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1126343180960
HP:0000007HP:0000007Autosomal recessive inheritance0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000007HP:0000007Autosomal recessive inheritance0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000007HP:0000007Autosomal recessive inheritance0AHSG CL E G H197203650Alopecia mental retardation syndrome 1203650C1859878OMIM161349138680
HP:0000007HP:0000007Autosomal recessive inheritance0AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM117813203605257
HP:0000007HP:0000007Autosomal recessive inheritance0AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM119913203605257
HP:0000007HP:0000007Autosomal recessive inheritance0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000007HP:0000007Autosomal recessive inheritance0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000007HP:0000007Autosomal recessive inheritance0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0000007HP:0000007Autosomal recessive inheritance0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0000007HP:0000007Autosomal recessive inheritance0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0000007HP:0000007Autosomal recessive inheritance0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0000007HP:0000007Autosomal recessive inheritance0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0000007HP:0000007Autosomal recessive inheritance0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0000007HP:0000007Autosomal recessive inheritance0AK1 CL E G H203612631Adenylate kinase deficiency, hemolytic anemia due to612631C2675459OMIM172361103000
HP:0000007HP:0000007Autosomal recessive inheritance0AK1 CL E G H203612631Adenylate kinase deficiency, hemolytic anemia due to612631C2675459OMIM179361103000
HP:0000007HP:0000007Autosomal recessive inheritance0AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM1133362103020
HP:0000007HP:0000007Autosomal recessive inheritance0AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM1161362103020
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1C2 CL E G H164661427946,XY sex reversal 8614279C1839840OMIM1102385600450
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1C2 CL E G H164661427946,XY sex reversal 8614279C1839840OMIM1109385600450
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0000007HP:0000007Autosomal recessive inheritance0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM177392164731
HP:0000007HP:0000007Autosomal recessive inheritance0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM194392164731
HP:0000007HP:0000007Autosomal recessive inheritance0ALB CL E G H213616000Analbuminemia616000C0878666OMIM1148399103600
HP:0000007HP:0000007Autosomal recessive inheritance0ALB CL E G H213616000Analbuminemia616000C0878666OMIM1152399103600
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM1177409600463
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM1182409600463
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1437403609523
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1475403609523
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM1197406606811
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM1220406606811
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1619877107323
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1696877107323
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1353414103850
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1381414103850
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0000007HP:0000007Autosomal recessive inheritance0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0000007HP:0000007Autosomal recessive inheritance0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0000007HP:0000007Autosomal recessive inheritance0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM117032456613666
HP:0000007HP:0000007Autosomal recessive inheritance0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM117932456613666
HP:0000007HP:0000007Autosomal recessive inheritance0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM17628287612866
HP:0000007HP:0000007Autosomal recessive inheritance0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM19728287612866
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM119323159607905
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM124123159607905
HP:0000007HP:0000007Autosomal recessive inheritance0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0000007HP:0000007Autosomal recessive inheritance0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0000007HP:0000007Autosomal recessive inheritance0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM131423157604566
HP:0000007HP:0000007Autosomal recessive inheritance0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM140423157604566
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM121215672606941
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM122215672606941
HP:0000007HP:0000007Autosomal recessive inheritance0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000007HP:0000007Autosomal recessive inheritance0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000007HP:0000007Autosomal recessive inheritance0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0000007HP:0000007Autosomal recessive inheritance0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H59344606545Autosomal recessive congenital ichthyosis 3606545C1847849OMIM120213743607206
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H59344606545Autosomal recessive congenital ichthyosis 3606545C1847849OMIM120913743607206
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249146300Adult hypophosphatasia146300C0268413OMIM1575438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249146300Adult hypophosphatasia146300C0268413OMIM1671438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1575438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1671438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1575438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1671438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1524443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1644443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1524443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1644443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM1311494601527
HP:0000007HP:0000007Autosomal recessive inheritance0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM142449606014
HP:0000007HP:0000007Autosomal recessive inheritance0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM143449606014
HP:0000007HP:0000007Autosomal recessive inheritance0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1245450605420
HP:0000007HP:0000007Autosomal recessive inheritance0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1246450605420
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1164451604489
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1251451604489
HP:0000007HP:0000007Autosomal recessive inheritance0AMBN CL E G H258616270Amelogenesis imperfecta, type IF616270C4225394OMIM140452601259
HP:0000007HP:0000007Autosomal recessive inheritance0AMBN CL E G H258616270Amelogenesis imperfecta, type IF616270C4225394OMIM141452601259
HP:0000007HP:0000007Autosomal recessive inheritance0AMH CL E G H268261550Persistent Mullerian duct syndrome261550C1849930OMIM173464600957
HP:0000007HP:0000007Autosomal recessive inheritance0AMH CL E G H268261550Persistent Mullerian duct syndrome261550C1849930OMIM193464600957
HP:0000007HP:0000007Autosomal recessive inheritance0AMHR2 CL E G H269261550Persistent Mullerian duct syndrome261550C1849930OMIM153465600956
HP:0000007HP:0000007Autosomal recessive inheritance0AMHR2 CL E G H269261550Persistent Mullerian duct syndrome261550C1849930OMIM162465600956
HP:0000007HP:0000007Autosomal recessive inheritance0AMN CL E G H81693261100Megaloblastic anemia due to inborn errors of metabolism261100C1306856OMIM115814604605799
HP:0000007HP:0000007Autosomal recessive inheritance0AMN CL E G H81693261100Megaloblastic anemia due to inborn errors of metabolism261100C1306856OMIM118414604605799
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD1 CL E G H270615511Muscle AMP deaminase deficiency615511C0268123OMIM1136468102770
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD1 CL E G H270615511Muscle AMP deaminase deficiency615511C0268123OMIM1228468102770
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1172469102771
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1230469102771
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1172469102771
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1230469102771
HP:0000007HP:0000007Autosomal recessive inheritance0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0000007HP:0000007Autosomal recessive inheritance0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0000007HP:0000007Autosomal recessive inheritance0ANGPTL3 CL E G H27329605019Hypobetalipoproteinemia, familial, 2605019C1857970OMIM156491604774
HP:0000007HP:0000007Autosomal recessive inheritance0ANGPTL3 CL E G H27329605019Hypobetalipoproteinemia, familial, 2605019C1857970OMIM163491604774
HP:0000007HP:0000007Autosomal recessive inheritance0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1364494600465
HP:0000007HP:0000007Autosomal recessive inheritance0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1505494600465
HP:0000007HP:0000007Autosomal recessive inheritance0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118429101616062
HP:0000007HP:0000007Autosomal recessive inheritance0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118929101616062
HP:0000007HP:0000007Autosomal recessive inheritance0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM122126724615370
HP:0000007HP:0000007Autosomal recessive inheritance0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM123926724615370
HP:0000007HP:0000007Autosomal recessive inheritance0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0000007HP:0000007Autosomal recessive inheritance0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0000007HP:0000007Autosomal recessive inheritance0ANO6 CL E G H196527262890SCOTT SYNDROME262890C0796149OMIM15525240608663
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM124721732608041
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM125321732608041
HP:0000007HP:0000007Autosomal recessive inheritance0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0000007HP:0000007Autosomal recessive inheritance0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1117567602166
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1288567602166
HP:0000007HP:0000007Autosomal recessive inheritance0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0000007HP:0000007Autosomal recessive inheritance0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0000007HP:0000007Autosomal recessive inheritance0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0000007HP:0000007Autosomal recessive inheritance0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0000007HP:0000007Autosomal recessive inheritance0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0000007HP:0000007Autosomal recessive inheritance0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0000007HP:0000007Autosomal recessive inheritance0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0000007HP:0000007Autosomal recessive inheritance0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0000007HP:0000007Autosomal recessive inheritance0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0000007HP:0000007Autosomal recessive inheritance0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0000007HP:0000007Autosomal recessive inheritance0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM171322197613653
HP:0000007HP:0000007Autosomal recessive inheritance0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM178022197613653
HP:0000007HP:0000007Autosomal recessive inheritance0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM117924036612034
HP:0000007HP:0000007Autosomal recessive inheritance0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM119424036612034
HP:0000007HP:0000007Autosomal recessive inheritance0APCDD1 CL E G H147495605389Hypotrichosis simplex605389C1854310OMIM111715718607479
HP:0000007HP:0000007Autosomal recessive inheritance0APCDD1 CL E G H147495605389Hypotrichosis simplex605389C1854310OMIM112115718607479
HP:0000007HP:0000007Autosomal recessive inheritance0APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM12340603107730
HP:0000007HP:0000007Autosomal recessive inheritance0APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM12465603107730
HP:0000007HP:0000007Autosomal recessive inheritance0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM157609608083
HP:0000007HP:0000007Autosomal recessive inheritance0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM159609608083
HP:0000007HP:0000007Autosomal recessive inheritance0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM178613107741
HP:0000007HP:0000007Autosomal recessive inheritance0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM180613107741
HP:0000007HP:0000007Autosomal recessive inheritance0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0000007HP:0000007Autosomal recessive inheritance0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0000007HP:0000007Autosomal recessive inheritance0APRT CL E G H353614723Adenine phosphoribosyltransferase deficiency614723C0268120OMIM1195626102600
HP:0000007HP:0000007Autosomal recessive inheritance0APRT CL E G H353614723Adenine phosphoribosyltransferase deficiency614723C0268120OMIM1210626102600
HP:0000007HP:0000007Autosomal recessive inheritance0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0000007HP:0000007Autosomal recessive inheritance0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0000007HP:0000007Autosomal recessive inheritance0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0000007HP:0000007Autosomal recessive inheritance0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0000007HP:0000007Autosomal recessive inheritance0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM142615853605371
HP:0000007HP:0000007Autosomal recessive inheritance0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM145915853605371
HP:0000007HP:0000007Autosomal recessive inheritance0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1234663608313
HP:0000007HP:0000007Autosomal recessive inheritance0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1295663608313
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM141678601925
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0000007HP:0000007Autosomal recessive inheritance0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000007HP:0000007Autosomal recessive inheritance0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000007HP:0000007Autosomal recessive inheritance0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM118425419608922
HP:0000007HP:0000007Autosomal recessive inheritance0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM122225419608922
HP:0000007HP:0000007Autosomal recessive inheritance0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0000007HP:0000007Autosomal recessive inheritance0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM111313210608845
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM114313210608845
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H84100613575Retinitis pigmentosa 55613575C3150808OMIM111313210608845
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H84100613575Retinitis pigmentosa 55613575C3150808OMIM114313210608845
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0000007HP:0000007Autosomal recessive inheritance0ARMC4 CL E G H55130615451Primary ciliary dyskinesia 23615451C3809548OMIM125583615408
HP:0000007HP:0000007Autosomal recessive inheritance0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM16216876606036
HP:0000007HP:0000007Autosomal recessive inheritance0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM18416876606036
HP:0000007HP:0000007Autosomal recessive inheritance0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0000007HP:0000007Autosomal recessive inheritance0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0000007HP:0000007Autosomal recessive inheritance0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0000007HP:0000007Autosomal recessive inheritance0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0000007HP:0000007Autosomal recessive inheritance0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16229561611647
HP:0000007HP:0000007Autosomal recessive inheritance0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16529561611647
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1420735613468
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1593735613468
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1420735613468
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1593735613468
HP:0000007HP:0000007Autosomal recessive inheritance0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM16324268614215
HP:0000007HP:0000007Autosomal recessive inheritance0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM18224268614215
HP:0000007HP:0000007Autosomal recessive inheritance0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0000007HP:0000007Autosomal recessive inheritance0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0000007HP:0000007Autosomal recessive inheritance0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0000007HP:0000007Autosomal recessive inheritance0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0000007HP:0000007Autosomal recessive inheritance0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1245756608034
HP:0000007HP:0000007Autosomal recessive inheritance0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1281756608034
HP:0000007HP:0000007Autosomal recessive inheritance0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1116757600582
HP:0000007HP:0000007Autosomal recessive inheritance0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1122757600582
HP:0000007HP:0000007Autosomal recessive inheritance0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM192019048605481
HP:0000007HP:0000007Autosomal recessive inheritance0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1110319048605481
HP:0000007HP:0000007Autosomal recessive inheritance0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1481758603470
HP:0000007HP:0000007Autosomal recessive inheritance0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1517758603470
HP:0000007HP:0000007Autosomal recessive inheritance0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000007HP:0000007Autosomal recessive inheritance0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000007HP:0000007Autosomal recessive inheritance0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0000007HP:0000007Autosomal recessive inheritance0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0000007HP:0000007Autosomal recessive inheritance0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM1178791605537
HP:0000007HP:0000007Autosomal recessive inheritance0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM1246791605537
HP:0000007HP:0000007Autosomal recessive inheritance0ATG5 CL E G H9474617584SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25617584C4539808OMIM133589604261
HP:0000007HP:0000007Autosomal recessive inheritance0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM167794601731
HP:0000007HP:0000007Autosomal recessive inheritance0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM172794601731
HP:0000007HP:0000007Autosomal recessive inheritance0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0000007HP:0000007Autosomal recessive inheritance0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0000007HP:0000007Autosomal recessive inheritance0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM17513907609875
HP:0000007HP:0000007Autosomal recessive inheritance0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM110613907609875
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0000007HP:0000007Autosomal recessive inheritance0ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1567811108730
HP:0000007HP:0000007Autosomal recessive inheritance0ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1657811108730
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM136838606153
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM137838606153
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM126318305300556
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM128618305300556
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0000007HP:0000007Autosomal recessive inheritance0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0000007HP:0000007Autosomal recessive inheritance0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM14943706602397
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM14963706602397
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14943706602397
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14963706602397
HP:0000007HP:0000007Autosomal recessive inheritance0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0000007HP:0000007Autosomal recessive inheritance0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0000007HP:0000007Autosomal recessive inheritance0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0000007HP:0000007Autosomal recessive inheritance0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0000007HP:0000007Autosomal recessive inheritance0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0000007HP:0000007Autosomal recessive inheritance0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0000007HP:0000007Autosomal recessive inheritance0AURKC CL E G H6795243060Infertility associated with multi-tailed spermatozoa and excessive DNA243060C0403812OMIM17311391603495
HP:0000007HP:0000007Autosomal recessive inheritance0AURKC CL E G H6795243060Infertility associated with multi-tailed spermatozoa and excessive DNA243060C0403812OMIM17411391603495
HP:0000007HP:0000007Autosomal recessive inheritance0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM178905109135
HP:0000007HP:0000007Autosomal recessive inheritance0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM187905109135
HP:0000007HP:0000007Autosomal recessive inheritance0B2M CL E G H567241600Hypoproteinemia, hypercatabolic241600C1855796OMIM132914109700
HP:0000007HP:0000007Autosomal recessive inheritance0B2M CL E G H567241600Hypoproteinemia, hypercatabolic241600C1855796OMIM139914109700
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM128117978615291
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM133717978615291
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000007HP:0000007Autosomal recessive inheritance0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0000007HP:0000007Autosomal recessive inheritance0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0000007HP:0000007Autosomal recessive inheritance0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000007HP:0000007Autosomal recessive inheritance0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1175930604327
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1237930604327
HP:0000007HP:0000007Autosomal recessive inheritance0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0000007HP:0000007Autosomal recessive inheritance0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM119624123614144
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM123024123614144
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H27077614209Meckel syndrome, type 9614209C3280155OMIM119624123614144
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H27077614209Meckel syndrome, type 9614209C3280155OMIM123024123614144
HP:0000007HP:0000007Autosomal recessive inheritance0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM15028636611951
HP:0000007HP:0000007Autosomal recessive inheritance0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM15828636611951
HP:0000007HP:0000007Autosomal recessive inheritance0BAAT CL E G H570607748Hypercholanemia, familial607748C1843139OMIM1171932602938
HP:0000007HP:0000007Autosomal recessive inheritance0BAAT CL E G H570607748Hypercholanemia, familial607748C1843139OMIM1172932602938
HP:0000007HP:0000007Autosomal recessive inheritance0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0000007HP:0000007Autosomal recessive inheritance0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0000007HP:0000007Autosomal recessive inheritance0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM15928093613605
HP:0000007HP:0000007Autosomal recessive inheritance0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM17128093613605
HP:0000007HP:0000007Autosomal recessive inheritance0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000007HP:0000007Autosomal recessive inheritance0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000007HP:0000007Autosomal recessive inheritance0BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM143826291610148
HP:0000007HP:0000007Autosomal recessive inheritance0BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM152826291610148
HP:0000007HP:0000007Autosomal recessive inheritance0BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM135526648610683
HP:0000007HP:0000007Autosomal recessive inheritance0BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM143926648610683
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1482967606151
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1585967606151
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583616562Retinitis pigmentosa 74616562C4225281OMIM1482967606151
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583616562Retinitis pigmentosa 74616562C4225281OMIM1585967606151
HP:0000007HP:0000007Autosomal recessive inheritance0BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1299969600374
HP:0000007HP:0000007Autosomal recessive inheritance0BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1378969600374
HP:0000007HP:0000007Autosomal recessive inheritance0BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1147970603650
HP:0000007HP:0000007Autosomal recessive inheritance0BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1199970603650
HP:0000007HP:0000007Autosomal recessive inheritance0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM125418758607590
HP:0000007HP:0000007Autosomal recessive inheritance0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM132618758607590
HP:0000007HP:0000007Autosomal recessive inheritance0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM142630000607968
HP:0000007HP:0000007Autosomal recessive inheritance0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM151230000607968
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0000007HP:0000007Autosomal recessive inheritance0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM179989603517
HP:0000007HP:0000007Autosomal recessive inheritance0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM188989603517
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM12491020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM12791020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0000007HP:0000007Autosomal recessive inheritance0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0000007HP:0000007Autosomal recessive inheritance0BFSP1 CL E G H631611391Cataract 33, multiple types611391C3808107OMIM11131040603307
HP:0000007HP:0000007Autosomal recessive inheritance0BFSP1 CL E G H631611391Cataract 33, multiple types611391C3808107OMIM11181040603307
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H727857609432Syndactyly type 9609432C1836206OMIM113135126615416
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H727857609432Syndactyly type 9609432C1836206OMIM114135126615416
HP:0000007HP:0000007Autosomal recessive inheritance0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0000007HP:0000007Autosomal recessive inheritance0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0000007HP:0000007Autosomal recessive inheritance0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0000007HP:0000007Autosomal recessive inheritance0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0000007HP:0000007Autosomal recessive inheritance0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM117014211604515
HP:0000007HP:0000007Autosomal recessive inheritance0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM120414211604515
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM1818549604310
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM11008549604310
HP:0000007HP:0000007Autosomal recessive inheritance0BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1291062109750
HP:0000007HP:0000007Autosomal recessive inheritance0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM12971067112264
HP:0000007HP:0000007Autosomal recessive inheritance0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM13631067112264
HP:0000007HP:0000007Autosomal recessive inheritance0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM117424154608699
HP:0000007HP:0000007Autosomal recessive inheritance0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM120624154608699
HP:0000007HP:0000007Autosomal recessive inheritance0BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM12511077603248
HP:0000007HP:0000007Autosomal recessive inheritance0BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM12731077603248
HP:0000007HP:0000007Autosomal recessive inheritance0BMS1 CL E G H9790107600Aplasia cutis congenita107600C0282160OMIM15623505611448
HP:0000007HP:0000007Autosomal recessive inheritance0BMS1 CL E G H9790107600Aplasia cutis congenita107600C0282160OMIM15723505611448
HP:0000007HP:0000007Autosomal recessive inheritance0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM16424415613183
HP:0000007HP:0000007Autosomal recessive inheritance0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17024415613183
HP:0000007HP:0000007Autosomal recessive inheritance0BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM1371093613896
HP:0000007HP:0000007Autosomal recessive inheritance0BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM1401093613896
HP:0000007HP:0000007Autosomal recessive inheritance0BRAF CL E G H673211980Lung cancer211980C0684249OMIM16181097164757
HP:0000007HP:0000007Autosomal recessive inheritance0BRAF CL E G H673211980Lung cancer211980C0684249OMIM16801097164757
HP:0000007HP:0000007Autosomal recessive inheritance0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0000007HP:0000007Autosomal recessive inheritance0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA2 CL E G H675605724Fanconi anemia, complementation group D1605724C1838457OMIM1139121101600185
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA2 CL E G H675605724Fanconi anemia, complementation group D1605724C1838457OMIM1147421101600185
HP:0000007HP:0000007Autosomal recessive inheritance0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0000007HP:0000007Autosomal recessive inheritance0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0000007HP:0000007Autosomal recessive inheritance0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM1346420473605882
HP:0000007HP:0000007Autosomal recessive inheritance0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM1377820473605882
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0000007HP:0000007Autosomal recessive inheritance0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM119816512606412
HP:0000007HP:0000007Autosomal recessive inheritance0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM120916512606412
HP:0000007HP:0000007Autosomal recessive inheritance0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000007HP:0000007Autosomal recessive inheritance0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000007HP:0000007Autosomal recessive inheritance0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0000007HP:0000007Autosomal recessive inheritance0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0000007HP:0000007Autosomal recessive inheritance0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM1771184616082
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM1801184616082
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM119929521615140
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM120829521615140
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM126784613541
HP:0000007HP:0000007Autosomal recessive inheritance0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM126929615626
HP:0000007HP:0000007Autosomal recessive inheritance0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0000007HP:0000007Autosomal recessive inheritance0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0000007HP:0000007Autosomal recessive inheritance0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124025443614297
HP:0000007HP:0000007Autosomal recessive inheritance0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124825443614297
HP:0000007HP:0000007Autosomal recessive inheritance0C1QA CL E G H712613652C1q deficiency613652C3150902OMIM1291241120550
HP:0000007HP:0000007Autosomal recessive inheritance0C1QA CL E G H712613652C1q deficiency613652C3150902OMIM1691241120550
HP:0000007HP:0000007Autosomal recessive inheritance0C1QB CL E G H713613652C1q deficiency613652C3150902OMIM1381242120570
HP:0000007HP:0000007Autosomal recessive inheritance0C1QB CL E G H713613652C1q deficiency613652C3150902OMIM1581242120570
HP:0000007HP:0000007Autosomal recessive inheritance0C1QC CL E G H714613652C1q deficiency613652C3150902OMIM1361245120575
HP:0000007HP:0000007Autosomal recessive inheritance0C1QC CL E G H714613652C1q deficiency613652C3150902OMIM1621245120575
HP:0000007HP:0000007Autosomal recessive inheritance0C2 CL E G H717217000Complement component 2 deficiency217000C3150275OMIM11061248613927
HP:0000007HP:0000007Autosomal recessive inheritance0C2 CL E G H717217000Complement component 2 deficiency217000C3150275OMIM11691248613927
HP:0000007HP:0000007Autosomal recessive inheritance0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM123824564615944
HP:0000007HP:0000007Autosomal recessive inheritance0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM135524564615944
HP:0000007HP:0000007Autosomal recessive inheritance0C3 CL E G H718613779Complement component 3 deficiency, autosomal recessive613779C3151071OMIM13571318120700
HP:0000007HP:0000007Autosomal recessive inheritance0C3 CL E G H718613779Complement component 3 deficiency, autosomal recessive613779C3151071OMIM14771318120700
HP:0000007HP:0000007Autosomal recessive inheritance0C4A CL E G H720614380Complement component 4a deficiency614380C1852692OMIM1331323120810
HP:0000007HP:0000007Autosomal recessive inheritance0C5 CL E G H727609536Leiner disease609536C0343047OMIM11121331120900
HP:0000007HP:0000007Autosomal recessive inheritance0C5 CL E G H727609536Leiner disease609536C0343047OMIM12721331120900
HP:0000007HP:0000007Autosomal recessive inheritance0C6 CL E G H729612446Complement component 6 deficiency612446C2676232OMIM1881339217050
HP:0000007HP:0000007Autosomal recessive inheritance0C6 CL E G H729612446Complement component 6 deficiency612446C2676232OMIM12131339217050
HP:0000007HP:0000007Autosomal recessive inheritance0C7 CL E G H730610102Complement component 7 deficiency610102C1864694OMIM1861346217070
HP:0000007HP:0000007Autosomal recessive inheritance0C7 CL E G H730610102Complement component 7 deficiency610102C1864694OMIM12101346217070
HP:0000007HP:0000007Autosomal recessive inheritance0C8A CL E G H731613790Complement component 8 deficiency type 1613790C3151081OMIM1721352120950
HP:0000007HP:0000007Autosomal recessive inheritance0C8A CL E G H731613790Complement component 8 deficiency type 1613790C3151081OMIM11481352120950
HP:0000007HP:0000007Autosomal recessive inheritance0C8B CL E G H732613789Complement component 8 deficiency type 2613789C3151080OMIM1631353120960
HP:0000007HP:0000007Autosomal recessive inheritance0C8B CL E G H732613789Complement component 8 deficiency type 2613789C3151080OMIM11641353120960
HP:0000007HP:0000007Autosomal recessive inheritance0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000007HP:0000007Autosomal recessive inheritance0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0000007HP:0000007Autosomal recessive inheritance0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM1561371603263
HP:0000007HP:0000007Autosomal recessive inheritance0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000007HP:0000007Autosomal recessive inheritance0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000007HP:0000007Autosomal recessive inheritance0CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM11141377114761
HP:0000007HP:0000007Autosomal recessive inheritance0CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM11401377114761
HP:0000007HP:0000007Autosomal recessive inheritance0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1771382114815
HP:0000007HP:0000007Autosomal recessive inheritance0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1831382114815
HP:0000007HP:0000007Autosomal recessive inheritance0CABP2 CL E G H51475614899Deafness, autosomal recessive 93614899C3888355OMIM1591385607314
HP:0000007HP:0000007Autosomal recessive inheritance0CABP2 CL E G H51475614899Deafness, autosomal recessive 93614899C3888355OMIM1691385607314
HP:0000007HP:0000007Autosomal recessive inheritance0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000007HP:0000007Autosomal recessive inheritance0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA1D CL E G H776614896Sinoatrial node dysfunction and deafness614896C3554018OMIM14771391114206
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA1D CL E G H776614896Sinoatrial node dysfunction and deafness614896C3554018OMIM17441391114206
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0000007HP:0000007Autosomal recessive inheritance0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0000007HP:0000007Autosomal recessive inheritance0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0000007HP:0000007Autosomal recessive inheritance0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0000007HP:0000007Autosomal recessive inheritance0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0000007HP:0000007Autosomal recessive inheritance0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0000007HP:0000007Autosomal recessive inheritance0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM1841476114220
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM11001476114220
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0000007HP:0000007Autosomal recessive inheritance0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM145016393607210
HP:0000007HP:0000007Autosomal recessive inheritance0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM154016393607210
HP:0000007HP:0000007Autosomal recessive inheritance0CARD9 CL E G H64170212050Candidiasis, familial, 2212050C1859353OMIM130516391607212
HP:0000007HP:0000007Autosomal recessive inheritance0CARD9 CL E G H64170212050Candidiasis, familial, 2212050C1859353OMIM135916391607212
HP:0000007HP:0000007Autosomal recessive inheritance0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0000007HP:0000007Autosomal recessive inheritance0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0000007HP:0000007Autosomal recessive inheritance0CASP14 CL E G H23581617320Ichthyosis, congenital, autosomal recessive 12617320C4310621OMIM1391502605848
HP:0000007HP:0000007Autosomal recessive inheritance0CASP14 CL E G H23581617320Ichthyosis, congenital, autosomal recessive 12617320C4310621OMIM1411502605848
HP:0000007HP:0000007Autosomal recessive inheritance0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM11941509601763
HP:0000007HP:0000007Autosomal recessive inheritance0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM12301509601763
HP:0000007HP:0000007Autosomal recessive inheritance0CASQ2 CL E G H845611938Ventricular tachycardia, catecholaminergic polymorphic, 2611938C2677794OMIM13781513114251
HP:0000007HP:0000007Autosomal recessive inheritance0CASQ2 CL E G H845611938Ventricular tachycardia, catecholaminergic polymorphic, 2611938C2677794OMIM14311513114251
HP:0000007HP:0000007Autosomal recessive inheritance0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0000007HP:0000007Autosomal recessive inheritance0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0000007HP:0000007Autosomal recessive inheritance0CAST CL E G H831616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads616295C4225381OMIM11111515114090
HP:0000007HP:0000007Autosomal recessive inheritance0CAST CL E G H831616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads616295C4225381OMIM11161515114090
HP:0000007HP:0000007Autosomal recessive inheritance0CAT CL E G H847614097Acatalasemia614097C0268419OMIM1581516115500
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER1 CL E G H117144612997CATSPER-Related Male Infertility612997C2751811OMIM19417116606389
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER1 CL E G H117144612997CATSPER-Related Male Infertility612997C2751811OMIM19517116606389
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H117155612997CATSPER-Related Male Infertility612997C2751811OMIM110618810607249
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H117155612997CATSPER-Related Male Infertility612997C2751811OMIM111018810607249
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H117155611102Deafness-infertility syndrome611102C1970187OMIM110618810607249
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H117155611102Deafness-infertility syndrome611102C1970187OMIM111018810607249
HP:0000007HP:0000007Autosomal recessive inheritance0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0000007HP:0000007Autosomal recessive inheritance0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0000007HP:0000007Autosomal recessive inheritance0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0000007HP:0000007Autosomal recessive inheritance0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0000007HP:0000007Autosomal recessive inheritance0CBLIF CL E G H2694261000Intrinsic factor deficiency261000C1394891OMIM1824268609342
HP:0000007HP:0000007Autosomal recessive inheritance0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0000007HP:0000007Autosomal recessive inheritance0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0000007HP:0000007Autosomal recessive inheritance0CBX2 CL E G H8473361308046,XY sex reversal, type 5613080C2751317OMIM1391552602770
HP:0000007HP:0000007Autosomal recessive inheritance0CBX2 CL E G H8473361308046,XY sex reversal, type 5613080C2751317OMIM1481552602770
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM116930237610055
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM117530237610055
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM188129253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM1106429253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM188129253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM1106429253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0000007HP:0000007Autosomal recessive inheritance0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC103 CL E G H388389614679Ciliary dyskinesia, primary, 17614679C3542550OMIM110232700614677
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC103 CL E G H388389614679Ciliary dyskinesia, primary, 17614679C3542550OMIM111432700614677
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC114 CL E G H93233615067Ciliary dyskinesia, primary, 20615067C3540844OMIM126560615038
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM15628178613734
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM16428178613734
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM114426821616031
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116726821616031
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC151 CL E G H115948616037Ciliary dyskinesia, primary, 30616037C4015016OMIM128303615956
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC39 CL E G H339829613807Ciliary dyskinesia, primary, 14613807C3151136OMIM137325244613798
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC39 CL E G H339829613807Ciliary dyskinesia, primary, 14613807C3151136OMIM141025244613798
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC40 CL E G H55036613808Ciliary dyskinesia, primary, 15613808C3151137OMIM157326090613799
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC40 CL E G H55036613808Ciliary dyskinesia, primary, 15613808C3151137OMIM164326090613799
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC65 CL E G H85478615504Ciliary dyskinesia, primary, 27615504C3809701OMIM113429937611088
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC65 CL E G H85478615504Ciliary dyskinesia, primary, 27615504C3809701OMIM115629937611088
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM125819967611204
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM126519967611204
HP:0000007HP:0000007Autosomal recessive inheritance0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0000007HP:0000007Autosomal recessive inheritance0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0000007HP:0000007Autosomal recessive inheritance0CCNO CL E G H10309615872Ciliary dyskinesia, primary, 29615872C4014534OMIM111418576607752
HP:0000007HP:0000007Autosomal recessive inheritance0CCNO CL E G H10309615872Ciliary dyskinesia, primary, 29615872C4014534OMIM112518576607752
HP:0000007HP:0000007Autosomal recessive inheritance0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM12931618610150
HP:0000007HP:0000007Autosomal recessive inheritance0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13061618610150
HP:0000007HP:0000007Autosomal recessive inheritance0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM1781630602243
HP:0000007HP:0000007Autosomal recessive inheritance0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM1921630602243
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1</