Human Phenotype Ontology 
Grandparent Node:
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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 achalasia231550C0271742OMIM1797113666605378
HP:0000007HP:0000007Autosomal recessive inheritance0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM13120621022612035
HP:0000007HP:0000007Autosomal recessive inheritance0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM13120621022612035
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1144817366605113
HP:0000007HP:0000007Autosomal recessive inheritance0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM1144817366605113
HP:0000007HP:0000007Autosomal recessive inheritance0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM11224323137150
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124024829600046
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H26154601277Autosomal recessive congenital ichthyosis 4A601277C1832550OMIM113618114637607800
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113618114637607800
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM128920733601615
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1128098134601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1128098134601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA4 CL E G H24248200Stargardt disease 1248200C1855465OMIM1128098134601691
HP:0000007HP:0000007Autosomal recessive inheritance0ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM151835612503
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM133135642603201
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133135642603201
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM124428045171060
HP:0000007HP:0000007Autosomal recessive inheritance0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124428045171060
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC2 CL E G H1244237500Dubin-Johnson syndrome237500C0022350OMIM16731653601107
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H368614473Generalized arterial calcification of infancy 2614473C3276161OMIM138071457603234
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138071457603234
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM166141859600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166141859600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM166141859600509
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM171967170995
HP:0000007HP:0000007Autosomal recessive inheritance0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM189768603214
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM14715413886605459
HP:0000007HP:0000007Autosomal recessive inheritance0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM15124013887605460
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM1219315868613599
HP:0000007HP:0000007Autosomal recessive inheritance0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13910821396604780
HP:0000007HP:0000007Autosomal recessive inheritance0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1712884200350
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM12616787604773
HP:0000007HP:0000007Autosomal recessive inheritance0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16115821497611103
HP:0000007HP:0000007Autosomal recessive inheritance0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117130889607008
HP:0000007HP:0000007Autosomal recessive inheritance0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM18516290606885
HP:0000007HP:0000007Autosomal recessive inheritance0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11517291600301
HP:0000007HP:0000007Autosomal recessive inheritance0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128347392609575
HP:0000007HP:0000007Autosomal recessive inheritance0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM164102319155760
HP:0000007HP:0000007Autosomal recessive inheritance0ACAT1 CL E G H38203750Deficiency of acetyl-CoA acetyltransferase203750C1536500OMIM19719793607809
HP:0000007HP:0000007Autosomal recessive inheritance0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM197525070609377
HP:0000007HP:0000007Autosomal recessive inheritance0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM1551362707106180
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119121118100850
HP:0000007HP:0000007Autosomal recessive inheritance0ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM119121118100850
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126152119609751
HP:0000007HP:0000007Autosomal recessive inheritance0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1521120601641
HP:0000007HP:0000007Autosomal recessive inheritance0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM1317123171650
HP:0000007HP:0000007Autosomal recessive inheritance0ACP4 CL E G H93650617297Amelogenesis imperfecta, type IJ617297C4310630OMIM171914376606362
HP:0000007HP:0000007Autosomal recessive inheritance0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM12861124171640
HP:0000007HP:0000007Autosomal recessive inheritance0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM12218427288614245
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217198129102610
HP:0000007HP:0000007Autosomal recessive inheritance0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217198129102610
HP:0000007HP:0000007Autosomal recessive inheritance0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165174132102630
HP:0000007HP:0000007Autosomal recessive inheritance0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11530177104620
HP:0000007HP:0000007Autosomal recessive inheritance0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196140186608958
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM1551401839607575
HP:0000007HP:0000007Autosomal recessive inheritance0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1551401839607575
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1765195603639
HP:0000007HP:0000007Autosomal recessive inheritance0ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM11193216602713
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM1157713201608990
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS13 CL E G H11093274150Upshaw-Schulman syndrome274150C1268935OMIM11981821366604134
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1831717109607511
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM1176517110607512
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112397218604539
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12813414631612277
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12710819706610113
HP:0000007HP:0000007Autosomal recessive inheritance0ADAMTSL4 CL E G H54507225100Ectopia lentis, isolated autosomal recessive225100C2673634OMIM12710819706610113
HP:0000007HP:0000007Autosomal recessive inheritance0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1229176225146920
HP:0000007HP:0000007Autosomal recessive inheritance0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM124825151615302
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY1 CL E G H107610154Deafness, autosomal recessive 44610154C1857809OMIM1147232103072
HP:0000007HP:0000007Autosomal recessive inheritance0ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM1414237600294
HP:0000007HP:0000007Autosomal recessive inheritance0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1827245601568
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM1361484512604110
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM1361484512604110
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM162013841612243
HP:0000007HP:0000007Autosomal recessive inheritance0ADGRV1 CL E G H84059605472Usher syndrome, type 2C605472C2931213OMIM124990117416602851
HP:0000007HP:0000007Autosomal recessive inheritance0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11543257102750
HP:0000007HP:0000007Autosomal recessive inheritance0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158212291608222
HP:0000007HP:0000007Autosomal recessive inheritance0ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM1320093612498
HP:0000007HP:0000007Autosomal recessive inheritance0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140206315604581
HP:0000007HP:0000007Autosomal recessive inheritance0AFP CL E G H174615969Alpha-fetoprotein deficiency615969C1863081OMIM1919317104150
HP:0000007HP:0000007Autosomal recessive inheritance0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138183318613228
HP:0000007HP:0000007Autosomal recessive inheritance0AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM191726147615900
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12714521869610345
HP:0000007HP:0000007Autosomal recessive inheritance0AGK CL E G H55750614691Cataract, autosomal recessive congenital 5614691C3553494OMIM12714521869610345
HP:0000007HP:0000007Autosomal recessive inheritance0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248592321610860
HP:0000007HP:0000007Autosomal recessive inheritance0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143145325603100
HP:0000007HP:0000007Autosomal recessive inheritance0AGPS CL E G H8540600121Rhizomelic chondrodysplasia punctata type 3600121C1838612OMIM19163327603051
HP:0000007HP:0000007Autosomal recessive inheritance0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM118602329103320
HP:0000007HP:0000007Autosomal recessive inheritance0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM12780333106150
HP:0000007HP:0000007Autosomal recessive inheritance0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM11647336106165
HP:0000007HP:0000007Autosomal recessive inheritance0AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1211370341604285
HP:0000007HP:0000007Autosomal recessive inheritance0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM11558343180960
HP:0000007HP:0000007Autosomal recessive inheritance0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19627221575608894
HP:0000007HP:0000007Autosomal recessive inheritance0AHSG CL E G H197203650Alopecia mental retardation syndrome 1203650C1859878OMIM1643349138680
HP:0000007HP:0000007Autosomal recessive inheritance0AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM15011213203605257
HP:0000007HP:0000007Autosomal recessive inheritance0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM152710648603605
HP:0000007HP:0000007Autosomal recessive inheritance0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1112134358605555
HP:0000007HP:0000007Autosomal recessive inheritance0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179148359604392
HP:0000007HP:0000007Autosomal recessive inheritance0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141290360607358
HP:0000007HP:0000007Autosomal recessive inheritance0AK1 CL E G H203612631Adenylate kinase deficiency, hemolytic anemia due to612631C2675459OMIM11251361103000
HP:0000007HP:0000007Autosomal recessive inheritance0AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM11965362103020
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1C2 CL E G H164661427946,XY sex reversal 8614279C1839840OMIM11246385600450
HP:0000007HP:0000007Autosomal recessive inheritance0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115130388604741
HP:0000007HP:0000007Autosomal recessive inheritance0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM1723392164731
HP:0000007HP:0000007Autosomal recessive inheritance0ALB CL E G H213616000Analbuminemia616000C0878666OMIM194120399103600
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1331929722138250
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1331929722138250
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM125103409600463
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1111247403609523
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM15103406606811
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175208408610045
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM16587179603178
HP:0000007HP:0000007Autosomal recessive inheritance0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1129375877107323
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18296414103850
HP:0000007HP:0000007Autosomal recessive inheritance0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167159417612724
HP:0000007HP:0000007Autosomal recessive inheritance0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14413418294605907
HP:0000007HP:0000007Autosomal recessive inheritance0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM11410532456613666
HP:0000007HP:0000007Autosomal recessive inheritance0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM163628287612866
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1511623159607905
HP:0000007HP:0000007Autosomal recessive inheritance0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM1511623159607905
HP:0000007HP:0000007Autosomal recessive inheritance0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM1199323056608750
HP:0000007HP:0000007Autosomal recessive inheritance0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM12614423157604566
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1412315672606941
HP:0000007HP:0000007Autosomal recessive inheritance0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM1412315672606941
HP:0000007HP:0000007Autosomal recessive inheritance0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161383428606844
HP:0000007HP:0000007Autosomal recessive inheritance0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164112430603741
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1229513743607206
HP:0000007HP:0000007Autosomal recessive inheritance0ALOXE3 CL E G H59344606545Autosomal recessive congenital ichthyosis 3606545C1847849OMIM1229513743607206
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249146300Adult hypophosphatasia146300C0268413OMIM1295233438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1295233438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295233438171760
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM173204443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173204443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM173204443606352
HP:0000007HP:0000007Autosomal recessive inheritance0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM15231494601527
HP:0000007HP:0000007Autosomal recessive inheritance0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1826449606014
HP:0000007HP:0000007Autosomal recessive inheritance0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127152450605420
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM114113451604489
HP:0000007HP:0000007Autosomal recessive inheritance0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114113451604489
HP:0000007HP:0000007Autosomal recessive inheritance0AMBN CL E G H258616270Amelogenesis imperfecta, type IF616270C4225394OMIM11121452601259
HP:0000007HP:0000007Autosomal recessive inheritance0AMH CL E G H268261550Persistent Mullerian duct syndrome261550C1849930OMIM15738464600957
HP:0000007HP:0000007Autosomal recessive inheritance0AMHR2 CL E G H269261550Persistent Mullerian duct syndrome261550C1849930OMIM13723465600956
HP:0000007HP:0000007Autosomal recessive inheritance0AMN CL E G H81693261100Megaloblastic anemia due to inborn errors of metabolism261100C1306856OMIM1349214604605799
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD1 CL E G H270615511Muscle AMP deaminase deficiency615511C0268123OMIM11390468102770
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11855469102771
HP:0000007HP:0000007Autosomal recessive inheritance0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM11855469102771
HP:0000007HP:0000007Autosomal recessive inheritance0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196135473238310
HP:0000007HP:0000007Autosomal recessive inheritance0ANGPTL3 CL E G H27329605019Hypobetalipoproteinemia, familial, 2605019C1857970OMIM15334491604774
HP:0000007HP:0000007Autosomal recessive inheritance0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM115213494600465
HP:0000007HP:0000007Autosomal recessive inheritance0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM123829101616062
HP:0000007HP:0000007Autosomal recessive inheritance0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM11210126724615370
HP:0000007HP:0000007Autosomal recessive inheritance0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM11910725519613726
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM112251027337608662
HP:0000007HP:0000007Autosomal recessive inheritance0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM112251027337608662
HP:0000007HP:0000007Autosomal recessive inheritance0ANO6 CL E G H196527262890SCOTT SYNDROME262890C0796149OMIM162625240608663
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142021014606410
HP:0000007HP:0000007Autosomal recessive inheritance0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM1487621732608041
HP:0000007HP:0000007Autosomal recessive inheritance0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1223559603531
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135132566603401
HP:0000007HP:0000007Autosomal recessive inheritance0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM11247567602166
HP:0000007HP:0000007Autosomal recessive inheritance0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1426568607246
HP:0000007HP:0000007Autosomal recessive inheritance0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121110572607245
HP:0000007HP:0000007Autosomal recessive inheritance0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118131573607244
HP:0000007HP:0000007Autosomal recessive inheritance0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM11596574602296
HP:0000007HP:0000007Autosomal recessive inheritance0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1853575607243
HP:0000007HP:0000007Autosomal recessive inheritance0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM11630722197613653
HP:0000007HP:0000007Autosomal recessive inheritance0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM134724036612034
HP:0000007HP:0000007Autosomal recessive inheritance0APCDD1 CL E G H147495605389Hypotrichosis simplex605389C1854310OMIM117915718607479
HP:0000007HP:0000007Autosomal recessive inheritance0APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM13331003603107730
HP:0000007HP:0000007Autosomal recessive inheritance0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM12437609608083
HP:0000007HP:0000007Autosomal recessive inheritance0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM16451613107741
HP:0000007HP:0000007Autosomal recessive inheritance0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18220492616003
HP:0000007HP:0000007Autosomal recessive inheritance0APRT CL E G H353614723Adenine phosphoribosyltransferase deficiency614723C0268120OMIM148106626102600
HP:0000007HP:0000007Autosomal recessive inheritance0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14614415984606350
HP:0000007HP:0000007Autosomal recessive inheritance0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166102634107777
HP:0000007HP:0000007Autosomal recessive inheritance0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM11523615853605371
HP:0000007HP:0000007Autosomal recessive inheritance0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM17497663608313
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1333678601925
HP:0000007HP:0000007Autosomal recessive inheritance0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM171817090616432
HP:0000007HP:0000007Autosomal recessive inheritance0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118847118040614556
HP:0000007HP:0000007Autosomal recessive inheritance0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11010525419608922
HP:0000007HP:0000007Autosomal recessive inheritance0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM152717146615407
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1215013210608845
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6 CL E G H84100613575Retinitis pigmentosa 55613575C3150808OMIM1215013210608845
HP:0000007HP:0000007Autosomal recessive inheritance0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM1425697607669
HP:0000007HP:0000007Autosomal recessive inheritance0ARMC4 CL E G H55130615451Primary ciliary dyskinesia 23615451C3809548OMIM11913925583615408
HP:0000007HP:0000007Autosomal recessive inheritance0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM162216876606036
HP:0000007HP:0000007Autosomal recessive inheritance0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254412713607574
HP:0000007HP:0000007Autosomal recessive inheritance0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207360714611542
HP:0000007HP:0000007Autosomal recessive inheritance0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM133729561611647
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171196735613468
HP:0000007HP:0000007Autosomal recessive inheritance0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM171196735613468
HP:0000007HP:0000007Autosomal recessive inheritance0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM151724268614215
HP:0000007HP:0000007Autosomal recessive inheritance0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169180746608310
HP:0000007HP:0000007Autosomal recessive inheritance0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12752753108370
HP:0000007HP:0000007Autosomal recessive inheritance0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1102133756608034
HP:0000007HP:0000007Autosomal recessive inheritance0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1436757600582
HP:0000007HP:0000007Autosomal recessive inheritance0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121365719048605481
HP:0000007HP:0000007Autosomal recessive inheritance0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157241758603470
HP:0000007HP:0000007Autosomal recessive inheritance0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119418318612990
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM132325903614452
HP:0000007HP:0000007Autosomal recessive inheritance0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11714525567612316
HP:0000007HP:0000007Autosomal recessive inheritance0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1395779608179
HP:0000007HP:0000007Autosomal recessive inheritance0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM11630791605537
HP:0000007HP:0000007Autosomal recessive inheritance0ATG5 CL E G H9474617584SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25617584C4539808OMIM1523589604261
HP:0000007HP:0000007Autosomal recessive inheritance0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1830794601731
HP:0000007HP:0000007Autosomal recessive inheritance0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM113246615795607585
HP:0000007HP:0000007Autosomal recessive inheritance0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM191913907609875
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM14425130213610513
HP:0000007HP:0000007Autosomal recessive inheritance0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM14425130213610513
HP:0000007HP:0000007Autosomal recessive inheritance0ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM119322811108730
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1384823164360
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1384823164360
HP:0000007HP:0000007Autosomal recessive inheritance0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM1126838606153
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM1620918305300556
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15622618481611716
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15622618481611716
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193117866605239
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1933851607027
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM161110853192132
HP:0000007HP:0000007Autosomal recessive inheritance0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1261857108746
HP:0000007HP:0000007Autosomal recessive inheritance0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938702870606882
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM1116713533605870
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM11402943706602397
HP:0000007HP:0000007Autosomal recessive inheritance0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11402943706602397
HP:0000007HP:0000007Autosomal recessive inheritance0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1216118802608918
HP:0000007HP:0000007Autosomal recessive inheritance0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134236882601215
HP:0000007HP:0000007Autosomal recessive inheritance0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112102890600529
HP:0000007HP:0000007Autosomal recessive inheritance0AURKC CL E G H6795243060Infertility associated with multi-tailed spermatozoa and excessive DNA243060C0403812OMIM143911391603495
HP:0000007HP:0000007Autosomal recessive inheritance0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM198905109135
HP:0000007HP:0000007Autosomal recessive inheritance0B2M CL E G H567241600Hypoproteinemia, hypercatabolic241600C1855796OMIM1421914109700
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11615728596610194
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM14019717978615291
HP:0000007HP:0000007Autosomal recessive inheritance0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14019717978615291
HP:0000007HP:0000007Autosomal recessive inheritance0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11325923606374
HP:0000007HP:0000007Autosomal recessive inheritance0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM1158220207610308
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM113614117601873
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM12157924137060
HP:0000007HP:0000007Autosomal recessive inheritance0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19117930604327
HP:0000007HP:0000007Autosomal recessive inheritance0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM176415685605517
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11014224123614144
HP:0000007HP:0000007Autosomal recessive inheritance0B9D1 CL E G H27077614209Meckel syndrome, type 9614209C3280155OMIM11014224123614144
HP:0000007HP:0000007Autosomal recessive inheritance0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM144728636611951
HP:0000007HP:0000007Autosomal recessive inheritance0BAAT CL E G H570607748Hypercholanemia, familial607748C1843139OMIM17125932602938
HP:0000007HP:0000007Autosomal recessive inheritance0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM113017397603811
HP:0000007HP:0000007Autosomal recessive inheritance0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM112928093613605
HP:0000007HP:0000007Autosomal recessive inheritance0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105187966209901
HP:0000007HP:0000007Autosomal recessive inheritance0BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110920726291610148
HP:0000007HP:0000007Autosomal recessive inheritance0BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16115126648610683
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM196180967606151
HP:0000007HP:0000007Autosomal recessive inheritance0BBS2 CL E G H583616562Retinitis pigmentosa 74616562C4225281OMIM196180967606151
HP:0000007HP:0000007Autosomal recessive inheritance0BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154144969600374
HP:0000007HP:0000007Autosomal recessive inheritance0BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM13158970603650
HP:0000007HP:0000007Autosomal recessive inheritance0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14410418758607590
HP:0000007HP:0000007Autosomal recessive inheritance0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15317830000607968
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101182986608348
HP:0000007HP:0000007Autosomal recessive inheritance0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115240987248611
HP:0000007HP:0000007Autosomal recessive inheritance0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1341989603517
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371401020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371401020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM1371401020603647
HP:0000007HP:0000007Autosomal recessive inheritance0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131924912703607854
HP:0000007HP:0000007Autosomal recessive inheritance0BFSP1 CL E G H631611391Cataract 33, multiple types611391C3808107OMIM17441040603307
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14410435126615416
HP:0000007HP:0000007Autosomal recessive inheritance0BHLHA9 CL E G H727857609432Syndactyly type 9609432C1836206OMIM14410435126615416
HP:0000007HP:0000007Autosomal recessive inheritance0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1172311052601248
HP:0000007HP:0000007Autosomal recessive inheritance0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11319081058604610
HP:0000007HP:0000007Autosomal recessive inheritance0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM135014211604515
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM145020914609762
HP:0000007HP:0000007Autosomal recessive inheritance0BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM12588549604310
HP:0000007HP:0000007Autosomal recessive inheritance0BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM13221062109750
HP:0000007HP:0000007Autosomal recessive inheritance0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM1211631067112264
HP:0000007HP:0000007Autosomal recessive inheritance0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11910524154608699
HP:0000007HP:0000007Autosomal recessive inheritance0BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM1241371077603248
HP:0000007HP:0000007Autosomal recessive inheritance0BMS1 CL E G H9790107600Aplasia cutis congenita107600C0282160OMIM121823505611448
HP:0000007HP:0000007Autosomal recessive inheritance0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM163624415613183
HP:0000007HP:0000007Autosomal recessive inheritance0BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM111331093613896
HP:0000007HP:0000007Autosomal recessive inheritance0BRAF CL E G H673211980Lung cancer211980C0684249OMIM1684091097164757
HP:0000007HP:0000007Autosomal recessive inheritance0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM11829921701614506
HP:0000007HP:0000007Autosomal recessive inheritance0BRCA2 CL E G H675605724Fanconi anemia, complementation group D1605724C1838457OMIM13025108261101600185
HP:0000007HP:0000007Autosomal recessive inheritance0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM1177711551604902
HP:0000007HP:0000007Autosomal recessive inheritance0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM1202219920473605882
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15019115832606158
HP:0000007HP:0000007Autosomal recessive inheritance0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM15019115832606158
HP:0000007HP:0000007Autosomal recessive inheritance0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM1248116512606412
HP:0000007HP:0000007Autosomal recessive inheritance0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483341122609019
HP:0000007HP:0000007Autosomal recessive inheritance0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291951149602860
HP:0000007HP:0000007Autosomal recessive inheritance0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM12221152604577
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM15611184616082
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM188629521615140
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM1118026784613541
HP:0000007HP:0000007Autosomal recessive inheritance0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM1118026784613541
HP:0000007HP:0000007Autosomal recessive inheritance0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM162626929615626
HP:0000007HP:0000007Autosomal recessive inheritance0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM13815225443614297
HP:0000007HP:0000007Autosomal recessive inheritance0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13815225443614297
HP:0000007HP:0000007Autosomal recessive inheritance0C1QA CL E G H712613652C1q deficiency613652C3150902OMIM18141241120550
HP:0000007HP:0000007Autosomal recessive inheritance0C1QB CL E G H713613652C1q deficiency613652C3150902OMIM18151242120570
HP:0000007HP:0000007Autosomal recessive inheritance0C1QC CL E G H714613652C1q deficiency613652C3150902OMIM110141245120575
HP:0000007HP:0000007Autosomal recessive inheritance0C2 CL E G H717217000Complement component 2 deficiency217000C3150275OMIM110651248613927
HP:0000007HP:0000007Autosomal recessive inheritance0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM1105124564615944
HP:0000007HP:0000007Autosomal recessive inheritance0C3 CL E G H718613779Complement component 3 deficiency, autosomal recessive613779C3151071OMIM11301101318120700
HP:0000007HP:0000007Autosomal recessive inheritance0C4A CL E G H720614380Complement component 4a deficiency614380C1852692OMIM19201323120810
HP:0000007HP:0000007Autosomal recessive inheritance0C5 CL E G H727609536Leiner disease609536C0343047OMIM121471331120900
HP:0000007HP:0000007Autosomal recessive inheritance0C6 CL E G H729612446Complement component 6 deficiency612446C2676232OMIM113311339217050
HP:0000007HP:0000007Autosomal recessive inheritance0C7 CL E G H730610102Complement component 7 deficiency610102C1864694OMIM132351346217070
HP:0000007HP:0000007Autosomal recessive inheritance0C8A CL E G H731613790Complement component 8 deficiency type 1613790C3151081OMIM18251352120950
HP:0000007HP:0000007Autosomal recessive inheritance0C8B CL E G H732613789Complement component 8 deficiency type 2613789C3151080OMIM19221353120960
HP:0000007HP:0000007Autosomal recessive inheritance0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM1177227232614477
HP:0000007HP:0000007Autosomal recessive inheritance0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM1177227232614477
HP:0000007HP:0000007Autosomal recessive inheritance0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM14151371603263
HP:0000007HP:0000007Autosomal recessive inheritance0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131591373611492
HP:0000007HP:0000007Autosomal recessive inheritance0CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM17741377114761
HP:0000007HP:0000007Autosomal recessive inheritance0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM14361382114815
HP:0000007HP:0000007Autosomal recessive inheritance0CABP2 CL E G H51475614899Deafness, autosomal recessive 93614899C3888355OMIM16301385607314
HP:0000007HP:0000007Autosomal recessive inheritance0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM1131151386608965
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA1D CL E G H776614896Sinoatrial node dysfunction and deafness614896C3554018OMIM1111401391114206
HP:0000007HP:0000007Autosomal recessive inheritance0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1922520202608171
HP:0000007HP:0000007Autosomal recessive inheritance0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM112481424114010
HP:0000007HP:0000007Autosomal recessive inheritance0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM116281460114078
HP:0000007HP:0000007Autosomal recessive inheritance0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12811619721613165
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM118151476114220
HP:0000007HP:0000007Autosomal recessive inheritance0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM14516321480114240
HP:0000007HP:0000007Autosomal recessive inheritance0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM11419216393607210
HP:0000007HP:0000007Autosomal recessive inheritance0CARD9 CL E G H64170212050Candidiasis, familial, 2212050C1859353OMIM13215116391607212
HP:0000007HP:0000007Autosomal recessive inheritance0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1423925695612800
HP:0000007HP:0000007Autosomal recessive inheritance0CASP14 CL E G H23581617320Ichthyosis, congenital, autosomal recessive 12617320C4310621OMIM11131502605848
HP:0000007HP:0000007Autosomal recessive inheritance0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM112801509601763
HP:0000007HP:0000007Autosomal recessive inheritance0CASQ2 CL E G H845611938Ventricular tachycardia, catecholaminergic polymorphic, 2611938C2677794OMIM1352591513114251
HP:0000007HP:0000007Autosomal recessive inheritance0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14106351514601199
HP:0000007HP:0000007Autosomal recessive inheritance0CAST CL E G H831616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads616295C4225381OMIM16291515114090
HP:0000007HP:0000007Autosomal recessive inheritance0CAT CL E G H847614097Acatalasemia614097C0268419OMIM120351516115500
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER1 CL E G H117144612997CATSPER-Related Male Infertility612997C2751811OMIM135417116606389
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H117155612997CATSPER-Related Male Infertility612997C2751811OMIM178818810607249
HP:0000007HP:0000007Autosomal recessive inheritance0CATSPER2 CL E G H117155611102Deafness-infertility syndrome611102C1970187OMIM178818810607249
HP:0000007HP:0000007Autosomal recessive inheritance0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM113451527601047
HP:0000007HP:0000007Autosomal recessive inheritance0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115599688603198
HP:0000007HP:0000007Autosomal recessive inheritance0CBLIF CL E G H2694261000Intrinsic factor deficiency261000C1394891OMIM1424268609342
HP:0000007HP:0000007Autosomal recessive inheritance0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12145091550613381
HP:0000007HP:0000007Autosomal recessive inheritance0CBX2 CL E G H8473361308046,XY sex reversal, type 5613080C2751317OMIM12241552602770
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM1711030237610055
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19645129253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19645129253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM19645129253612013
HP:0000007HP:0000007Autosomal recessive inheritance0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11321629426612753
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC103 CL E G H388389614679Ciliary dyskinesia, primary, 17614679C3542550OMIM156932700614677
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC114 CL E G H93233615067Ciliary dyskinesia, primary, 20615067C3540844OMIM1812926560615038
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154228178613734
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM112626821616031
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC151 CL E G H115948616037Ciliary dyskinesia, primary, 30616037C4015016OMIM127628303615956
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM112228033616735
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC39 CL E G H339829613807Ciliary dyskinesia, primary, 14613807C3151136OMIM14722225244613798
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC40 CL E G H55036613808Ciliary dyskinesia, primary, 15613808C3151137OMIM14330626090613799
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC65 CL E G H85478615504Ciliary dyskinesia, primary, 27615504C3809701OMIM125529937611088
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM131625367614145
HP:0000007HP:0000007Autosomal recessive inheritance0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM11110019967611204
HP:0000007HP:0000007Autosomal recessive inheritance0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM15512771603400
HP:0000007HP:0000007Autosomal recessive inheritance0CCNO CL E G H10309615872Ciliary dyskinesia, primary, 29615872C4014534OMIM1106318576607752
HP:0000007HP:0000007Autosomal recessive inheritance0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM111711618610150
HP:0000007HP:0000007Autosomal recessive inheritance0CD151 CL E G H977609057Nephropathy with pretibial epidermolysis bullosa and deafness609057C1836823OMIM16321630602243
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101551633107265
HP:0000007HP:0000007Autosomal recessive inheritance0CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1101551633107265
HP:0000007HP:0000007Autosomal recessive inheritance0CD247 CL E G H919610163Immunodeficiency due to defect in cd3-zeta610163C1857798OMIM16431677186780
HP:0000007HP:0000007Autosomal recessive inheritance0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM186711922186711
HP:0000007HP:0000007Autosomal recessive inheritance0CD320 CL E G H51293613646Methylmalonic aciduria due to transcobalamin receptor defect613646C3150900OMIM133516692606475
HP:0000007HP:0000007Autosomal recessive inheritance0CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM1431041663173510
HP:0000007HP:0000007Autosomal recessive inheritance0CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM15581673186790
HP:0000007HP:0000007Autosomal recessive inheritance0CD3E CL E G H916615615Immunodeficiency 18615615C3810127OMIM17591674186830
HP:0000007HP:0000007Autosomal recessive inheritance0CD3G CL E G H917615607Immunodeficiency 17615607C3810107OMIM14621675186740
HP:0000007HP:0000007Autosomal recessive inheritance0CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM1144411919109535
HP:0000007HP:0000007Autosomal recessive inheritance0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125262665125240
HP:0000007HP:0000007Autosomal recessive inheritance0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM18281689107271
HP:0000007HP:0000007Autosomal recessive inheritance0CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM18301698112205
HP:0000007HP:0000007Autosomal recessive inheritance0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13331699147245
HP:0000007HP:0000007Autosomal recessive inheritance0CD81 CL E G H975613496Common variable immunodeficiency 6613496C3150741OMIM12321701186845
HP:0000007HP:0000007Autosomal recessive inheritance0CD8A CL E G H925608957Cd8 deficiency, familial608957C1837065OMIM11371706186910
HP:0000007HP:0000007Autosomal recessive inheritance0CD96 CL E G H10225211750C syndrome211750C0796095OMIM139816892606037
HP:0000007HP:0000007Autosomal recessive inheritance0CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM1691051713607465
HP:0000007HP:0000007Autosomal recessive inheritance0CDC14A CL E G H8556608653Deafness, autosomal recessive 32608653C1837608OMIM19451718603504
HP:0000007HP:0000007Autosomal recessive inheritance0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193541739603465
HP:0000007HP:0000007Autosomal recessive inheritance0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14411744602627
HP:0000007HP:0000007Autosomal recessive inheritance0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM162314628609937
HP:0000007HP:0000007Autosomal recessive inheritance0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110301750600023
HP:0000007HP:0000007Autosomal recessive inheritance0CDH23 CL E G H64072601386Deafness, autosomal recessive 12601386C1832394OMIM136190913733605516
HP:0000007HP:0000007Autosomal recessive inheritance0CDH23 CL E G H64072601067Usher syndrome, type 1D601067C1832845OMIM136190913733605516
HP:0000007HP:0000007Autosomal recessive inheritance0CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1311311762114021
HP:0000007HP:0000007Autosomal recessive inheritance0CDH3 CL E G H1001601553Juvenile macular degeneration and hypotrichosis601553C1832162OMIM1311311762114021
HP:0000007HP:0000007Autosomal recessive inheritance0CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM14919114550609502
HP:0000007HP:0000007Autosomal recessive inheritance0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17631770603464
HP:0000007HP:0000007Autosomal recessive inheritance0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM15631774123831
HP:0000007HP:0000007Autosomal recessive inheritance0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM12324718672608201
HP:0000007HP:0000007Autosomal recessive inheritance0CDK6 CL E G H1021616080Primary autosomal recessive microcephaly 12616080C4015156OMIM11211777603368
HP:0000007HP:0000007Autosomal recessive inheritance0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM116181802602593
HP:0000007HP:0000007Autosomal recessive inheritance0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11212424576605525
HP:0000007HP:0000007Autosomal recessive inheritance0CEBPE CL E G H1053245480Specific granule deficiency245480C0398593OMIM17401836600749
HP:0000007HP:0000007Autosomal recessive inheritance0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM14361856117143
HP:0000007HP:0000007Autosomal recessive inheritance0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM18641857600236
HP:0000007HP:0000007Autosomal recessive inheritance0CENPJ CL E G H55835608393Primary autosomal recessive microcephaly 6608393C1842109OMIM11023317272609279
HP:0000007HP:0000007Autosomal recessive inheritance0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM11023317272609279
HP:0000007HP:0000007Autosomal recessive inheritance0CEP104 CL E G H9731616781Joubert syndrome 25616781C4084842OMIM1711324866616690
HP:0000007HP:0000007Autosomal recessive inheritance0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM196226690613446
HP:0000007HP:0000007Autosomal recessive inheritance0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM145829086611423
HP:0000007HP:0000007Autosomal recessive inheritance0CEP152 CL E G H22995614852Primary autosomal recessive microcephaly 9614852C3553886OMIM12019629298613529
HP:0000007HP:0000007Autosomal recessive inheritance0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM12019629298613529
HP:0000007HP:0000007Autosomal recessive inheritance0CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM198629182614848
HP:0000007HP:0000007Autosomal recessive inheritance0CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM129228209615586
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM131054329021610142
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM131054329021610142
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H80184611755Leber congenital amaurosis 10611755C1857821OMIM131054329021610142
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM131054329021610142
HP:0000007HP:0000007Autosomal recessive inheritance0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131054329021610142
HP:0000007HP:0000007Autosomal recessive inheritance0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11113212370610523
HP:0000007HP:0000007Autosomal recessive inheritance0CEP55 CL E G H55165236500Hydranencephaly with renal aplasia-dysplasia236500C1856053OMIM12231161610000
HP:0000007HP:0000007Autosomal recessive inheritance0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM157530794607951
HP:0000007HP:0000007Autosomal recessive inheritance0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM125925815614724
HP:0000007HP:0000007Autosomal recessive inheritance0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM1107125740617110
HP:0000007HP:0000007Autosomal recessive inheritance0CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM1103617966615847
HP:0000007HP:0000007Autosomal recessive inheritance0CERKL CL E G H375298608380Retinitis pigmentosa 26608380C1842127OMIM13911721699608381
HP:0000007HP:0000007Autosomal recessive inheritance0CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM119814253606919
HP:0000007HP:0000007Autosomal recessive inheritance0CERS3 CL E G H204219615023Autosomal recessive congenital ichthyosis 9615023C3554349OMIM199423752615276
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP298 CL E G H56683615500Ciliary dyskinesia, primary, 26615500C3809684OMIM14821301615494
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM11041260603191
HP:0000007HP:0000007Autosomal recessive inheritance0CFAP53 CL E G H220136614779Heterotaxy, visceral, 6, autosomal614779C3553676OMIM146326530614759
HP:0000007HP:0000007Autosomal recessive inheritance0CFD CL E G H1675613912Complement factor d deficiency613912C0398764OMIM13462771134350
HP:0000007HP:0000007Autosomal recessive inheritance0CFH CL E G H3075609814Factor H deficiency609814C0398777OMIM13461544883134370
HP:0000007HP:0000007Autosomal recessive inheritance0CFI CL E G H3426610984Afibrinogenemia610984C0001733OMIM1158785394217030
HP:0000007HP:0000007Autosomal recessive inheritance0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM19761875601443
HP:0000007HP:0000007Autosomal recessive inheritance0CFTR CL E G H1080277180Congenital bilateral absence of the vas deferens277180C0403814OMIM1182818231884602421
HP:0000007HP:0000007Autosomal recessive inheritance0CFTR CL E G H1080219700Cystic fibrosis219700C0010674OMIM1182818231884602421
HP:0000007HP:0000007Autosomal recessive inheritance0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1772461912118490
HP:0000007HP:0000007Autosomal recessive inheritance0CHEK2 CL E G H11200259500Osteosarcoma259500C0029463OMIM1213171716627604373
HP:0000007HP:0000007Autosomal recessive inheritance0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM1272131938612395
HP:0000007HP:0000007Autosomal recessive inheritance0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM13978740164010
HP:0000007HP:0000007Autosomal recessive inheritance0CHRM3 CL E G H1131100100Prune belly syndrome100100C0033770OMIM18671952118494
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1361721955100690
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1361721955100690
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1361721955100690
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1111291961100710
HP:0000007HP:0000007Autosomal recessive inheritance0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1261731965100720
HP:0000007HP:0000007Autosomal recessive inheritance0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1261731965100720
HP:0000007HP:0000007Autosomal recessive inheritance0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1261731965100720
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11382631966100725
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11382631966100725
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11382631966100725
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351091967100730
HP:0000007HP:0000007Autosomal recessive inheritance0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351091967100730
HP:0000007HP:0000007Autosomal recessive inheritance0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1226424464608429
HP:0000007HP:0000007Autosomal recessive inheritance0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1391911971603799
HP:0000007HP:0000007Autosomal recessive inheritance0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1391911971603799
HP:0000007HP:0000007Autosomal recessive inheritance0CHST6 CL E G H4166217800Macular corneal dystrophy Type I217800C1636149OMIM11781776938605294
HP:0000007HP:0000007Autosomal recessive inheritance0CHST8 CL E G H64377616265Peeling skin syndrome 3616265C4015729OMIM131815993610190
HP:0000007HP:0000007Autosomal recessive inheritance0CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11612117198608183
HP:0000007HP:0000007Autosomal recessive inheritance0CHUK CL E G H1147613630Cocoon syndrome613630C3150891OMIM15181974600664
HP:0000007HP:0000007Autosomal recessive inheritance0CIB2 CL E G H10518609439Deafness, autosomal recessive 48609439C1836199OMIM1184424579605564
HP:0000007HP:0000007Autosomal recessive inheritance0CIB2 CL E G H10518614869Usher syndrome, type 1J614869C3553944OMIM1184424579605564
HP:0000007HP:0000007Autosomal recessive inheritance0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM115324229612120
HP:0000007HP:0000007Autosomal recessive inheritance0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM1202357067600005
HP:0000007HP:0000007Autosomal recessive inheritance0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM141824212611507
HP:0000007HP:0000007Autosomal recessive inheritance0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM115361985605629
HP:0000007HP:0000007Autosomal recessive inheritance0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM172226877616174
HP:0000007HP:0000007Autosomal recessive inheritance0CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM141717412607672
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM13173892019118425
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM144952020600570
HP:0000007HP:0000007Autosomal recessive inheritance0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11001592025602727
HP:0000007HP:0000007Autosomal recessive inheritance0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521252027602023
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM14702032603718
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN14 CL E G H23562614035Deafness, autosomal recessive 29614035C3279660OMIM1131222035605608
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651052037603959
HP:0000007HP:0000007Autosomal recessive inheritance0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM121602040610036
HP:0000007HP:0000007Autosomal recessive inheritance0CLEC7A CL E G H64581613108Familial chronic mucocutaneous candidiasis613108C0341024OMIM113814558606264
HP:0000007HP:0000007Autosomal recessive inheritance0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM124113517607293
HP:0000007HP:0000007Autosomal recessive inheritance0CLMP CL E G H79827615237Intestinal pseudo-obstruction615237C0021847OMIM1135724039611693
HP:0000007HP:0000007Autosomal recessive inheritance0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1733802074607042
HP:0000007HP:0000007Autosomal recessive inheritance0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM1522782076608102
HP:0000007HP:0000007Autosomal recessive inheritance0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM1852542077606725
HP:0000007HP:0000007Autosomal recessive inheritance0CLN6 CL E G H54982601780Ceroid lipofuscinosis neuronal 6601780C1866282OMIM1852542077606725
HP:0000007HP:0000007Autosomal recessive inheritance0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM1442902079607837
HP:0000007HP:0000007Autosomal recessive inheritance0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM1442902079607837
HP:0000007HP:0000007Autosomal recessive inheritance0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM122216999608757
HP:0000007HP:0000007Autosomal recessive inheritance0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12513530664616254
HP:0000007HP:0000007Autosomal recessive inheritance0CLPP CL E G H8192614129Perrault syndrome 3614129C2681413OMIM113382084601119
HP:0000007HP:0000007Autosomal recessive inheritance0CLRN1 CL E G H7401614180Retinitis pigmentosa 61614180C3280041OMIM13911412605606397
HP:0000007HP:0000007Autosomal recessive inheritance0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13911412605606397
HP:0000007HP:0000007Autosomal recessive inheritance0CNGA1 CL E G H1259613756Retinitis pigmentosa 49613756C3151059OMIM133762148123825
HP:0000007HP:0000007Autosomal recessive inheritance0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM11521242150600053
HP:0000007HP:0000007Autosomal recessive inheritance0CNGB1 CL E G H1258613767Retinitis pigmentosa 45613767C3151066OMIM1622172151600724
HP:0000007HP:0000007Autosomal recessive inheritance0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM11262562153605080
HP:0000007HP:0000007Autosomal recessive inheritance0CNGB3 CL E G H54714248200Stargardt disease 1248200C1855465OMIM11262562153605080
HP:0000007HP:0000007Autosomal recessive inheritance0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1778103607803
HP:0000007HP:0000007Autosomal recessive inheritance0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM124110105607805
HP:0000007HP:0000007Autosomal recessive inheritance0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM121682171600016
HP:0000007HP:0000007Autosomal recessive inheritance0CNTN2 CL E G H6900615400Epilepsy, familial adult myoclonic, 5615400C3809374OMIM161182172190197
HP:0000007HP:0000007Autosomal recessive inheritance0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM121278011602346
HP:0000007HP:0000007Autosomal recessive inheritance0COA5 CL E G H493753616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500C4225154OMIM112633848613920
HP:0000007HP:0000007Autosomal recessive inheritance0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM135318025614772
HP:0000007HP:0000007Autosomal recessive inheritance0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171425716615623
HP:0000007HP:0000007Autosomal recessive inheritance0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM135729932609855
HP:0000007HP:0000007Autosomal recessive inheritance0COCH CL E G H1690618094DEAFNESS, AUTOSOMAL RECESSIVE 110618094CN253427OMIM129942180603196
HP:0000007HP:0000007Autosomal recessive inheritance0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13836545606973
HP:0000007HP:0000007Autosomal recessive inheritance0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12426546606974
HP:0000007HP:0000007Autosomal recessive inheritance0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1613518620606976
HP:0000007HP:0000007Autosomal recessive inheritance0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM11313114857606821
HP:0000007HP:0000007Autosomal recessive inheritance0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11013118621606977
HP:0000007HP:0000007Autosomal recessive inheritance0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM11013118621606977
HP:0000007HP:0000007Autosomal recessive inheritance0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM178518623606979
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11064622186120280
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A2 CL E G H1302609706Deafness, autosomal recessive 53609706C1864746OMIM1594142187120290
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A2 CL E G H1302614524Fibrochondrogenesis 2614524C3281128OMIM1594142187120290
HP:0000007HP:0000007Autosomal recessive inheritance0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM1594142187120290
HP:0000007HP:0000007Autosomal recessive inheritance0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13232190120350
HP:0000007HP:0000007Autosomal recessive inheritance0COL17A1 CL E G H1308226650Adult junctional epidermolysis bullosa226650C0268374OMIM11141642194113811
HP:0000007HP:0000007Autosomal recessive inheritance0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1363422195120328
HP:0000007HP:0000007Autosomal recessive inheritance0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM19678262197120150
HP:0000007HP:0000007Autosomal recessive inheritance0COL1A2 CL E G H1278225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form225320C1857034OMIM15235542198120160
HP:0000007HP:0000007Autosomal recessive inheritance0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM15235542198120160
HP:0000007HP:0000007Autosomal recessive inheritance0COL25A1 CL E G H84570616219Fibrosis of extraocular muscles, congenital, 5616219C4015552OMIM141818603610004
HP:0000007HP:0000007Autosomal recessive inheritance0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM185122986608461
HP:0000007HP:0000007Autosomal recessive inheritance0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12723862204120070
HP:0000007HP:0000007Autosomal recessive inheritance0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12334522206120131
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM11378332211120220
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM11378332211120220
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM11919402212120240
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM11919402212120240
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM11919402212120240
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114313062213120250
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A3 CL E G H1293616411Dystonia 27616411C4225336OMIM114313062213120250
HP:0000007HP:0000007Autosomal recessive inheritance0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114313062213120250
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H1294604129Epidermolysis bullosa pruriginosa604129C1275114OMIM18283332214120120
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H1294131850Pretibial epidermolysis bullosa131850C0432321OMIM18283332214120120
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18283332214120120
HP:0000007HP:0000007Autosomal recessive inheritance0COL7A1 CL E G H1294131705Transient bullous dermolysis of the newborn131705C1851573OMIM18283332214120120
HP:0000007HP:0000007Autosomal recessive inheritance0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM162282217120210
HP:0000007HP:0000007Autosomal recessive inheritance0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1131752218120260
HP:0000007HP:0000007Autosomal recessive inheritance0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14462220607620
HP:0000007HP:0000007Autosomal recessive inheritance0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1134317213612502
HP:0000007HP:0000007Autosomal recessive inheritance0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1701952226603033
HP:0000007HP:0000007Autosomal recessive inheritance0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM14302232606990
HP:0000007HP:0000007Autosomal recessive inheritance0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310125223609825
HP:0000007HP:0000007Autosomal recessive inheritance0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM11611819693612898
HP:0000007HP:0000007Autosomal recessive inheritance0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM1167320233614647
HP:0000007HP:0000007Autosomal recessive inheritance0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15362244601683
HP:0000007HP:0000007Autosomal recessive inheritance0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14323916812606980
HP:0000007HP:0000007Autosomal recessive inheritance0COQ8B CL E G H79934615573Nephrotic syndrome, type 9615573C3809965OMIM1287019041615567
HP:0000007HP:0000007Autosomal recessive inheritance0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM158125302612837
HP:0000007HP:0000007Autosomal recessive inheritance0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM171672252605000
HP:0000007HP:0000007Autosomal recessive inheritance0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1131752260602125
HP:0000007HP:0000007Autosomal recessive inheritance0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1131752260602125
HP:0000007HP:0000007Autosomal recessive inheritance0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0000007HP:0000007Autosomal recessive inheritance0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM151362263603646
HP:0000007HP:0000007Autosomal recessive inheritance0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151362263603646
HP:0000007HP:0000007Autosomal recessive inheritance0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1111926970614698
HP:0000007HP:0000007Autosomal recessive inheritance0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113716232607976
HP:0000007HP:0000007Autosomal recessive inheritance0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM11242277602072
HP:0000007HP:0000007Autosomal recessive inheritance0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13292280124089
HP:0000007HP:0000007Autosomal recessive inheritance0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11102294123870
HP:0000007HP:0000007Autosomal recessive inheritance0CPA6 CL E G H57094614417Epilepsy, familial temporal lobe, 5614417C3280730OMIM11711217245609562
HP:0000007HP:0000007Autosomal recessive inheritance0CPA6 CL E G H57094614418Febrile seizures, familial, 11614418C3280734OMIM11711217245609562
HP:0000007HP:0000007Autosomal recessive inheritance0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM162023228608841
HP:0000007HP:0000007Autosomal recessive inheritance0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM111843525801614571
HP:0000007HP:0000007Autosomal recessive inheritance0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111843525801614571
HP:0000007HP:0000007Autosomal recessive inheritance0CPN1 CL E G H1369212070Anaphylotoxin inactivator deficiency212070C0398782OMIM12172312603103
HP:0000007HP:0000007Autosomal recessive inheritance0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12763002323608307
HP:0000007HP:0000007Autosomal recessive inheritance0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1531702328600528
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM11132502330600650
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11132502330600650
HP:0000007HP:0000007Autosomal recessive inheritance0CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11132502330600650
HP:0000007HP:0000007Autosomal recessive inheritance0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1191102336120650
HP:0000007HP:0000007Autosomal recessive inheritance0CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM1191102336120650
HP:0000007HP:0000007Autosomal recessive inheritance0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM17202340603454
HP:0000007HP:0000007Autosomal recessive inheritance0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13472272343604210
HP:0000007HP:0000007Autosomal recessive inheritance0CRB1 CL E G H23418600105Retinitis pigmentosa 12600105C1838647OMIM13472272343604210
HP:0000007HP:0000007Autosomal recessive inheritance0CRB2 CL E G H286204616220Focal segmental glomerulosclerosis 9616220C4015555OMIM1255518688609720
HP:0000007HP:0000007Autosomal recessive inheritance0CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM1255518688609720
HP:0000007HP:0000007Autosomal recessive inheritance0CRBN CL E G H51185607417Mental retardation, autosomal recessive 2607417C1843942OMIM169830185609262
HP:0000007HP:0000007Autosomal recessive inheritance0CREB3L1 CL E G H90993616229Osteogenesis imperfecta, type xvi616229C4015610OMIM132018856616215
HP:0000007HP:0000007Autosomal recessive inheritance0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142114312604594
HP:0000007HP:0000007Autosomal recessive inheritance0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137372364604237
HP:0000007HP:0000007Autosomal recessive inheritance0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM1301962379605497
HP:0000007HP:0000007Autosomal recessive inheritance0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11071912383602225
HP:0000007HP:0000007Autosomal recessive inheritance0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM1271112388123580
HP:0000007HP:0000007Autosomal recessive inheritance0CRYAB CL E G H1410613763Cataract 16, multiple types613763C3151065OMIM130952389123590
HP:0000007HP:0000007Autosomal recessive inheritance0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM130952389123590
HP:0000007HP:0000007Autosomal recessive inheritance0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM120472397600929
HP:0000007HP:0000007Autosomal recessive inheritance0CRYBB3 CL E G H1417609741Cataract, congenital nuclear, autosomal recessive 2609741C1857853OMIM17532400123630
HP:0000007HP:0000007Autosomal recessive inheritance0CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM16452436138981
HP:0000007HP:0000007Autosomal recessive inheritance0CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM116882439138971
HP:0000007HP:0000007Autosomal recessive inheritance0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12714626193611654
HP:0000007HP:0000007Autosomal recessive inheritance0CSTA CL E G H1475607936Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like607936C1842797OMIM18222481184600
HP:0000007HP:0000007Autosomal recessive inheritance0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM1151582482601145
HP:0000007HP:0000007Autosomal recessive inheritance0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13430126169613129
HP:0000007HP:0000007Autosomal recessive inheritance0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM111772498604927
HP:0000007HP:0000007Autosomal recessive inheritance0CTH CL E G H1491219500Cystathioninuria219500C0220993OMIM110672501607657
HP:0000007HP:0000007Autosomal recessive inheritance0CTNNB1 CL E G H1499155255Medulloblastoma155255C0025149OMIM1541332514116806
HP:0000007HP:0000007Autosomal recessive inheritance0CTNS CL E G H1497219750Cystinosis, ocular nonnephropathic219750C2931013OMIM11603232518606272
HP:0000007HP:0000007Autosomal recessive inheritance0CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM11603232518606272
HP:0000007HP:0000007Autosomal recessive inheritance0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11603232518606272
HP:0000007HP:0000007Autosomal recessive inheritance0CTPS1 CL E G H1503615897Immunodeficiency 24615897C4014617OMIM12422519123860
HP:0000007HP:0000007Autosomal recessive inheritance0CTSA CL E G H5476256540Combined deficiency of sialidase AND beta galactosidase256540C0268233OMIM139829251613111
HP:0000007HP:0000007Autosomal recessive inheritance0CTSC CL E G H1075245010Haim-Munk syndrome245010C1855627OMIM196982528602365
HP:0000007HP:0000007Autosomal recessive inheritance0CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM196982528602365
HP:0000007HP:0000007Autosomal recessive inheritance0CTSC CL E G H1075170650Periodontitis, aggressive, 1170650C0031106OMIM196982528602365
HP:0000007HP:0000007Autosomal recessive inheritance0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1192702529116840
HP:0000007HP:0000007Autosomal recessive inheritance0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM111572531603539
HP:0000007HP:0000007Autosomal recessive inheritance0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM158692536601105
HP:0000007HP:0000007Autosomal recessive inheritance0CUBN CL E G H8029261100Megaloblastic anemia due to inborn errors of metabolism261100C1306856OMIM1583962548602997
HP:0000007HP:0000007Autosomal recessive inheritance0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18517921024609577
HP:0000007HP:0000007Autosomal recessive inheritance0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM171610664617170
HP:0000007HP:0000007Autosomal recessive inheritance0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM152925613616120
HP:0000007HP:0000007Autosomal recessive inheritance0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM171282570613218
HP:0000007HP:0000007Autosomal recessive inheritance0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175542873613213
HP:0000007HP:0000007Autosomal recessive inheritance0CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM1761292577608508
HP:0000007HP:0000007Autosomal recessive inheritance0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM12682579123980
HP:0000007HP:0000007Autosomal recessive inheritance0CYP11B1 CL E G H1584202010Deficiency of steroid 11-beta-monooxygenase202010C0268292OMIM11612242591610613
HP:0000007HP:0000007Autosomal recessive inheritance0CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM1551242592124080
HP:0000007HP:0000007Autosomal recessive inheritance0CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM1551242592124080
HP:0000007HP:0000007Autosomal recessive inheritance0CYP17A1 CL E G H1586202110Deficiency of steroid 17-alpha-monooxygenase202110C0268285OMIM1130772593609300
HP:0000007HP:0000007Autosomal recessive inheritance0CYP19A1 CL E G H1588613546Aromatase deficiency613546C1960539OMIM173892594107910
HP:0000007HP:0000007Autosomal recessive inheritance0CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12431392597601771
HP:0000007HP:0000007Autosomal recessive inheritance0CYP1B1 CL E G H1545231300Glaucoma 3, primary congenital, A231300C1856439OMIM12431392597601771
HP:0000007HP:0000007Autosomal recessive inheritance0CYP1B1 CL E G H1545600975Glaucoma 3, primary infantile, b600975C1832977OMIM12431392597601771
HP:0000007HP:0000007Autosomal recessive inheritance0CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM13031232600613815
HP:0000007HP:0000007Autosomal recessive inheritance0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM144892602126065
HP:0000007HP:0000007Autosomal recessive inheritance0CYP26B1 CL E G H56603614416Radiohumeral fusions with other skeletal and craniofacial anomalies614416C3280729OMIM1131520581605207
HP:0000007HP:0000007Autosomal recessive inheritance0CYP26C1 CL E G H340665614974Focal facial dermal dysplasia 4614974C3554246OMIM1112020577608428
HP:0000007HP:0000007Autosomal recessive inheritance0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11162462605606530
HP:0000007HP:0000007Autosomal recessive inheritance0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182522606609506
HP:0000007HP:0000007Autosomal recessive inheritance0CYP2C19 CL E G H1557609535CYP2C19-related poor drug metabolism609535C1836023OMIM149782621124020
HP:0000007HP:0000007Autosomal recessive inheritance0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM162420580608713
HP:0000007HP:0000007Autosomal recessive inheritance0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM1195920582610670
HP:0000007HP:0000007Autosomal recessive inheritance0CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM14511226820611495
HP:0000007HP:0000007Autosomal recessive inheritance0CYP4V2 CL E G H285440210370Bietti crystalline corneoretinal dystrophy210370C1859486OMIM110525023198608614
HP:0000007HP:0000007Autosomal recessive inheritance0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631612652603711
HP:0000007HP:0000007Autosomal recessive inheritance0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM1631612652603711
HP:0000007HP:0000007Autosomal recessive inheritance0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13321228358609186
HP:0000007HP:0000007Autosomal recessive inheritance0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM1112342666128239
HP:0000007HP:0000007Autosomal recessive inheritance0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1112342666128239
HP:0000007HP:0000007Autosomal recessive inheritance0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM1182678603084
HP:0000007HP:0000007Autosomal recessive inheritance0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16513425538610956
HP:0000007HP:0000007Autosomal recessive inheritance0DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM1261302689609312
HP:0000007HP:0000007Autosomal recessive inheritance0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1782182698248610
HP:0000007HP:0000007Autosomal recessive inheritance0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM11811225784612515
HP:0000007HP:0000007Autosomal recessive inheritance0DCDC2 CL E G H51473610212Deafness, autosomal recessive 66610212C1857750OMIM1119218141605755
HP:0000007HP:0000007Autosomal recessive inheritance0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM1119218141605755
HP:0000007HP:0000007Autosomal recessive inheritance0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM1119218141605755
HP:0000007HP:0000007Autosomal recessive inheritance0DCHS1 CL E G H8642601390601390601390OMIM1246513681603057
HP:0000007HP:0000007Autosomal recessive inheritance0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19119217642605988
HP:0000007HP:0000007Autosomal recessive inheritance0DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM19119217642605988
HP:0000007HP:0000007Autosomal recessive inheritance0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM127429812610534
HP:0000007HP:0000007Autosomal recessive inheritance0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117432718600811
HP:0000007HP:0000007Autosomal recessive inheritance0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM159682719107930
HP:0000007HP:0000007Autosomal recessive inheritance0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM1138419714614603
HP:0000007HP:0000007Autosomal recessive inheritance0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11912129106615003
HP:0000007HP:0000007Autosomal recessive inheritance0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM121162728602202
HP:0000007HP:0000007Autosomal recessive inheritance0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM110692731191311
HP:0000007HP:0000007Autosomal recessive inheritance0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM113416110616177
HP:0000007HP:0000007Autosomal recessive inheritance0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17462736601150
HP:0000007HP:0000007Autosomal recessive inheritance0DDX59 CL E G H83479174300Orofaciodigital syndrome 5174300C1868118OMIM161625360615464
HP:0000007HP:0000007Autosomal recessive inheritance0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM1178514677602635
HP:0000007HP:0000007Autosomal recessive inheritance0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11263962770125660
HP:0000007HP:0000007Autosomal recessive inheritance0DGAT1 CL E G H8694615863Diarrhea 7615863C4014516OMIM112732843604900
HP:0000007HP:0000007Autosomal recessive inheritance0DGKE CL E G H8526615008Nephrotic syndrome, type 7615008C3554330OMIM140362852601440
HP:0000007HP:0000007Autosomal recessive inheritance0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641112858601465
HP:0000007HP:0000007Autosomal recessive inheritance0DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM1641112858601465
HP:0000007HP:0000007Autosomal recessive inheritance0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641112858601465
HP:0000007HP:0000007Autosomal recessive inheritance0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM110882859606418
HP:0000007HP:0000007Autosomal recessive inheritance0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12182922860602858
HP:0000007HP:0000007Autosomal recessive inheritance0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM186820603608172
HP:0000007HP:0000007Autosomal recessive inheritance0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM19692861126060
HP:0000007HP:0000007Autosomal recessive inheritance0DHH CL E G H5084623342046,XY sex reversal, type 7233420C1856273OMIM118382865605423
HP:0000007HP:0000007Autosomal recessive inheritance0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM120922867126064
HP:0000007HP:0000007Autosomal recessive inheritance0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM1187223537614984
HP:0000007HP:0000007Autosomal recessive inheritance0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM1152312876602121
HP:0000007HP:0000007Autosomal recessive inheritance0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11454428648614184
HP:0000007HP:0000007Autosomal recessive inheritance0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151212896608770
HP:0000007HP:0000007Autosomal recessive inheritance0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1231412898238331
HP:0000007HP:0000007Autosomal recessive inheritance0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM126762909602768
HP:0000007HP:0000007Autosomal recessive inheritance0DLX5 CL E G H1749220600Split-hand/foot malformation 1 with sensorineural hearing loss220600C1857344OMIM111192918600028
HP:0000007HP:0000007Autosomal recessive inheritance0DMGDH CL E G H29958605850Dimethylglycine dehydrogenase deficiency605850C1853892OMIM136124475605849
HP:0000007HP:0000007Autosomal recessive inheritance0DMP1 CL E G H1758241520Autosomal recessive hypophosphatemic vitamin D refractory rickets241520C0342643OMIM111742932600980
HP:0000007HP:0000007Autosomal recessive inheritance0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM19262938612186
HP:0000007HP:0000007Autosomal recessive inheritance0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM181212939601810
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF1 CL E G H123872613193Ciliary dyskinesia, primary, 13613193C2750790OMIM13823630539613190
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF2 CL E G H55172612518Ciliary dyskinesia, primary, 10612518C2675867OMIM1615820188612517
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF3 CL E G H352909606763Ciliary dyskinesia, primary, 2606763C1847554OMIM1515730492614566
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF4 CL E G H161582615482Primary ciliary dyskinesia 25615482C3809641OMIM1197621493608706
HP:0000007HP:0000007Autosomal recessive inheritance0DNAAF5 CL E G H54919614874Ciliary dyskinesia, primary, 18614874C3543825OMIM1519026013614864
HP:0000007HP:0000007Autosomal recessive inheritance0