Human Phenotype Ontology 
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Gonosomal inheritance (HP:0010985)help
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X-linked inheritance (HP:0001417)help
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X-linked recessive inheritance (HP:0001419)help
Term ID: 1419
Name: X-linked recessive inheritance
Synonym: X-linked recessive
Definition: A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Comments:
Reference: HP:0001419
Genes and Diseases:
 
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..expandX-linked dominant inheritance (HP:0001423) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001419HP:0001419X-linked recessive inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM11280151134601691
HP:0001419HP:0001419X-linked recessive inheritance0ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM1920448300135
HP:0001419HP:0001419X-linked recessive inheritance0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166970961300371
HP:0001419HP:0001419X-linked recessive inheritance0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM1292983776300806
HP:0001419HP:0001419X-linked recessive inheritance0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333438768300169
HP:0001419HP:0001419X-linked recessive inheritance0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM1333438768300169
HP:0001419HP:0001419X-linked recessive inheritance0AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM1333438768300169
HP:0001419HP:0001419X-linked recessive inheritance0ALAS2 CL E G H212300751Hereditary sideroblastic anemia300751C0221018OMIM1103227397301300
HP:0001419HP:0001419X-linked recessive inheritance0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0001419HP:0001419X-linked recessive inheritance0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0001419HP:0001419X-linked recessive inheritance0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913466211300836
HP:0001419HP:0001419X-linked recessive inheritance0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0001419HP:0001419X-linked recessive inheritance0AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1627400644313700
HP:0001419HP:0001419X-linked recessive inheritance0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1627400644313700
HP:0001419HP:0001419X-linked recessive inheritance0AR CL E G H367300633Hypospadias 1, X-linked300633C2678098OMIM1627400644313700
HP:0001419HP:0001419X-linked recessive inheritance0AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1627400644313700
HP:0001419HP:0001419X-linked recessive inheritance0ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM12327714561300429
HP:0001419HP:0001419X-linked recessive inheritance0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0001419HP:0001419X-linked recessive inheritance0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM19846618060300382
HP:0001419HP:0001419X-linked recessive inheritance0ARX CL E G H170302300419Mental retardation, with or without seizures, ARX-related, X-linked300419C0796244OMIM19846618060300382
HP:0001419HP:0001419X-linked recessive inheritance0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM19846618060300382
HP:0001419HP:0001419X-linked recessive inheritance0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM17275816300014
HP:0001419HP:0001419X-linked recessive inheritance0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001419HP:0001419X-linked recessive inheritance0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0001419HP:0001419X-linked recessive inheritance0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM1622618305300556
HP:0001419HP:0001419X-linked recessive inheritance0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0001419HP:0001419X-linked recessive inheritance0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM1357607869300011
HP:0001419HP:0001419X-linked recessive inheritance0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0001419HP:0001419X-linked recessive inheritance0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0001419HP:0001419X-linked recessive inheritance0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0001419HP:0001419X-linked recessive inheritance0AVPR2 CL E G H554300539Nephrogenic syndrome of inappropriate antidiuresis300539C1845202OMIM1286356897300538
HP:0001419HP:0001419X-linked recessive inheritance0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM1924716695300398
HP:0001419HP:0001419X-linked recessive inheritance0BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0001419HP:0001419X-linked recessive inheritance0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11834317342300553
HP:0001419HP:0001419X-linked recessive inheritance0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104211133300300
HP:0001419HP:0001419X-linked recessive inheritance0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104211133300300
HP:0001419HP:0001419X-linked recessive inheritance0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0001419HP:0001419X-linked recessive inheritance0CASK CL E G H8573300908Anemia, nonspherocytic hemolytic, due to G6PD deficiency300908C2720289OMIM11194461497300172
HP:0001419HP:0001419X-linked recessive inheritance0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0001419HP:0001419X-linked recessive inheritance0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0001419HP:0001419X-linked recessive inheritance0CFP CL E G H5199312060Properdin deficiency, X-linked312060C1839454OMIM1181638864300383
HP:0001419HP:0001419X-linked recessive inheritance0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12118229861300350
HP:0001419HP:0001419X-linked recessive inheritance0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0001419HP:0001419X-linked recessive inheritance0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM12743592023300008
HP:0001419HP:0001419X-linked recessive inheritance0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM12743592023300008
HP:0001419HP:0001419X-linked recessive inheritance0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM12743592023300008
HP:0001419HP:0001419X-linked recessive inheritance0CLCN5 CL E G H1184310468X-linked recessive nephrolithiasis with renal failure310468C0403720OMIM12743592023300008
HP:0001419HP:0001419X-linked recessive inheritance0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM132402063300138
HP:0001419HP:0001419X-linked recessive inheritance0COL4A6 CL E G H1288300914Deafness, X-linked 6300914C3806737OMIM152462208303631
HP:0001419HP:0001419X-linked recessive inheritance0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001419HP:0001419X-linked recessive inheritance0CYBB CL E G H1536300645Atypical mycobacteriosis, familial, X-linked 2300645C1970859OMIM17823762578300481
HP:0001419HP:0001419X-linked recessive inheritance0CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM17823762578300481
HP:0001419HP:0001419X-linked recessive inheritance0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM1783372745300160
HP:0001419HP:0001419X-linked recessive inheritance0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001419HP:0001419X-linked recessive inheritance0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM1171962902300189
HP:0001419HP:0001419X-linked recessive inheritance0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM1397037602928300377
HP:0001419HP:0001419X-linked recessive inheritance0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM1397037602928300377
HP:0001419HP:0001419X-linked recessive inheritance0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0001419HP:0001419X-linked recessive inheritance0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM13303473157300451
HP:0001419HP:0001419X-linked recessive inheritance0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0001419HP:0001419X-linked recessive inheritance0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM11134353331300384
HP:0001419HP:0001419X-linked recessive inheritance0F8 CL E G H2157306700Hereditary factor VIII deficiency disease306700C0019069OMIM132317373546300841
HP:0001419HP:0001419X-linked recessive inheritance0F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM112874463551300746
HP:0001419HP:0001419X-linked recessive inheritance0FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001419HP:0001419X-linked recessive inheritance0FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM1213523583300515
HP:0001419HP:0001419X-linked recessive inheritance0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001419HP:0001419X-linked recessive inheritance0FGF16 CL E G H8823309630Metacarpal 4-5 fusion309630C1839728OMIM181383672300827
HP:0001419HP:0001419X-linked recessive inheritance0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM1623703702300163
HP:0001419HP:0001419X-linked recessive inheritance0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0001419HP:0001419X-linked recessive inheritance0FLNA CL E G H2316314400Cardiac valvular dysplasia, X-linked314400C0262436OMIM127114723754300017
HP:0001419HP:0001419X-linked recessive inheritance0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0001419HP:0001419X-linked recessive inheritance0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM127114723754300017
HP:0001419HP:0001419X-linked recessive inheritance0FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM11082566106300292
HP:0001419HP:0001419X-linked recessive inheritance0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1952628079300628
HP:0001419HP:0001419X-linked recessive inheritance0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0001419HP:0001419X-linked recessive inheritance0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM11020613254300499
HP:0001419HP:0001419X-linked recessive inheritance0G6PD CL E G H2539300908Anemia, nonspherocytic hemolytic, due to G6PD deficiency300908C2720289OMIM12293754057305900
HP:0001419HP:0001419X-linked recessive inheritance0GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM1152354170305371
HP:0001419HP:0001419X-linked recessive inheritance0GATA1 CL E G H2623300367GATA-1-related thrombocytopenia with dyserythropoiesis300367C1845837OMIM1152354170305371
HP:0001419HP:0001419X-linked recessive inheritance0GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM1152354170305371
HP:0001419HP:0001419X-linked recessive inheritance0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0001419HP:0001419X-linked recessive inheritance0GJB2 CL E G H2706304400Deafness, X-linked 2304400C1844678OMIM14103854284121011
HP:0001419HP:0001419X-linked recessive inheritance0GJB6 CL E G H10804304400Deafness, X-linked 2304400C1844678OMIM1341574288604418
HP:0001419HP:0001419X-linked recessive inheritance0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001419HP:0001419X-linked recessive inheritance0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001419HP:0001419X-linked recessive inheritance0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001419HP:0001419X-linked recessive inheritance0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001419HP:0001419X-linked recessive inheritance0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0001419HP:0001419X-linked recessive inheritance0GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM1242434573305915
HP:0001419HP:0001419X-linked recessive inheritance0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0001419HP:0001419X-linked recessive inheritance0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0001419HP:0001419X-linked recessive inheritance0HPRT1 CL E G H3251300323Partial hypoxanthine-guanine phosphoribosyltransferase deficiency300323C0268117OMIM14282725157308000
HP:0001419HP:0001419X-linked recessive inheritance0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001419HP:0001419X-linked recessive inheritance0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0001419HP:0001419X-linked recessive inheritance0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0001419HP:0001419X-linked recessive inheritance0IGSF1 CL E G H3547300888Hypothyroidism, central, and testicular enlargement300888C3550963OMIM1422135948300137
HP:0001419HP:0001419X-linked recessive inheritance0IKBKG CL E G H8517300636Familial atypical mycobacteriosis, type 1, X-linked300636C1970879OMIM11512955961300248
HP:0001419HP:0001419X-linked recessive inheritance0IKBKG CL E G H8517300291Hypohidrotic ectodermal dysplasia with immune deficiency300291C1846006OMIM11512955961300248
HP:0001419HP:0001419X-linked recessive inheritance0IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM11512955961300248
HP:0001419HP:0001419X-linked recessive inheritance0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM1422735996300206
HP:0001419HP:0001419X-linked recessive inheritance0IL2RG CL E G H3561312863Combined immunodeficiency, X-linked312863C1706416OMIM12502716010308380
HP:0001419HP:0001419X-linked recessive inheritance0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM12502716010308380
HP:0001419HP:0001419X-linked recessive inheritance0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15753929059300522
HP:0001419HP:0001419X-linked recessive inheritance0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0001419HP:0001419X-linked recessive inheritance0KIF4A CL E G H24137300923Mental retardation, X-linked 100300923C3890167OMIM1216313339300521
HP:0001419HP:0001419X-linked recessive inheritance0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0001419HP:0001419X-linked recessive inheritance0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM12935196470308840
HP:0001419HP:0001419X-linked recessive inheritance0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0001419HP:0001419X-linked recessive inheritance0L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM12935196470308840
HP:0001419HP:0001419X-linked recessive inheritance0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0001419HP:0001419X-linked recessive inheritance0MAGED2 CL E G H10916300971Bartter syndrome, type 5, antenatal, transient300971C4310820OMIM1715116353300470
HP:0001419HP:0001419X-linked recessive inheritance0MAMLD1 CL E G H10046300758Hypospadias 2, X-linked300758C2677879OMIM1202112568300120
HP:0001419HP:0001419X-linked recessive inheritance0MAOA CL E G H4128300615Monoamine oxidase A deficiency300615C0796275OMIM1182086833309850
HP:0001419HP:0001419X-linked recessive inheritance0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0001419HP:0001419X-linked recessive inheritance0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12620715455300294
HP:0001419HP:0001419X-linked recessive inheritance0MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM12620715455300294
HP:0001419HP:0001419X-linked recessive inheritance0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0001419HP:0001419X-linked recessive inheritance0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0001419HP:0001419X-linked recessive inheritance0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0001419HP:0001419X-linked recessive inheritance0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001419HP:0001419X-linked recessive inheritance0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0001419HP:0001419X-linked recessive inheritance0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0001419HP:0001419X-linked recessive inheritance0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0001419HP:0001419X-linked recessive inheritance0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM121847096300204
HP:0001419HP:0001419X-linked recessive inheritance0MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM121347373309845
HP:0001419HP:0001419X-linked recessive inheritance0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM13274997448300415
HP:0001419HP:0001419X-linked recessive inheritance0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0001419HP:0001419X-linked recessive inheritance0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0001419HP:0001419X-linked recessive inheritance0NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0001419HP:0001419X-linked recessive inheritance0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001419HP:0001419X-linked recessive inheritance0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001419HP:0001419X-linked recessive inheritance0NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12552707960300473
HP:0001419HP:0001419X-linked recessive inheritance0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0001419HP:0001419X-linked recessive inheritance0NYX CL E G H60506310500Congenital stationary night blindness, type 1A310500C3495587OMIM1912568082300278
HP:0001419HP:0001419X-linked recessive inheritance0OCRL CL E G H4952300555Dent disease 2300555C1845167OMIM12643428108300535
HP:0001419HP:0001419X-linked recessive inheritance0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0001419HP:0001419X-linked recessive inheritance0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0001419HP:0001419X-linked recessive inheritance0OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM11625102567300170
HP:0001419HP:0001419X-linked recessive inheritance0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0001419HP:0001419X-linked recessive inheritance0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0001419HP:0001419X-linked recessive inheritance0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0001419HP:0001419X-linked recessive inheritance0OPN1LW CL E G H5956303900Protan defect303900C0155015OMIM1632509936300822
HP:0001419HP:0001419X-linked recessive inheritance0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0001419HP:0001419X-linked recessive inheritance0OPN1MW CL E G H2652303800Deuteranopia303800C0155016OMIM1212404206300821
HP:0001419HP:0001419X-linked recessive inheritance0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15276418512300461
HP:0001419HP:0001419X-linked recessive inheritance0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0001419HP:0001419X-linked recessive inheritance0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM1281968896311800
HP:0001419HP:0001419X-linked recessive inheritance0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0001419HP:0001419X-linked recessive inheritance0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM11620820672300560
HP:0001419HP:0001419X-linked recessive inheritance0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM182878925311870
HP:0001419HP:0001419X-linked recessive inheritance0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001419HP:0001419X-linked recessive inheritance0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0001419HP:0001419X-linked recessive inheritance0PIH1D3 CL E G H139212300991Ciliary dyskinesia, primary, 36, X-linked300991C4478372OMIM11228570300933
HP:0001419HP:0001419X-linked recessive inheritance0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0001419HP:0001419X-linked recessive inheritance0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13523009086300401
HP:0001419HP:0001419X-linked recessive inheritance0POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM1121513711300603
HP:0001419HP:0001419X-linked recessive inheritance0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0001419HP:0001419X-linked recessive inheritance0POU3F4 CL E G H5456304400Deafness, X-linked 2304400C1844678OMIM1842119217300039
HP:0001419HP:0001419X-linked recessive inheritance0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0001419HP:0001419X-linked recessive inheritance0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0001419HP:0001419X-linked recessive inheritance0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0001419HP:0001419X-linked recessive inheritance0PRPS1 CL E G H5631304500Deafness, X-linked 1304500C1844677OMIM1322599462311850
HP:0001419HP:0001419X-linked recessive inheritance0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322599462311850
HP:0001419HP:0001419X-linked recessive inheritance0RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM11728016499300774
HP:0001419HP:0001419X-linked recessive inheritance0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM11728016499300774
HP:0001419HP:0001419X-linked recessive inheritance0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0001419HP:0001419X-linked recessive inheritance0RBMX CL E G H27316300238Mental retardation X-linked syndromic 11300238C1846145OMIM111829910300199
HP:0001419HP:0001419X-linked recessive inheritance0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0001419HP:0001419X-linked recessive inheritance0RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM124566210295312610
HP:0001419HP:0001419X-linked recessive inheritance0RPGR CL E G H6103300455Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness300455C2749137OMIM124566210295312610
HP:0001419HP:0001419X-linked recessive inheritance0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0001419HP:0001419X-linked recessive inheritance0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001419HP:0001419X-linked recessive inheritance0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0001419HP:0001419X-linked recessive inheritance0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0001419HP:0001419X-linked recessive inheritance0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0001419HP:0001419X-linked recessive inheritance0STS CL E G H412308100X-linked ichthyosis with steryl-sulfatase deficiency308100C0079588OMIM17240611425300747
HP:0001419HP:0001419X-linked recessive inheritance0SYN1 CL E G H6853300491Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491C1845343OMIM1831011494313440
HP:0001419HP:0001419X-linked recessive inheritance0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM11724011535313650
HP:0001419HP:0001419X-linked recessive inheritance0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM11724011535313650
HP:0001419HP:0001419X-linked recessive inheritance0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001419HP:0001419X-linked recessive inheritance0TEX11 CL E G H56159309120Spermatogenic failure, X-linked, 2309120C1839841OMIM11014811733300311
HP:0001419HP:0001419X-linked recessive inheritance0THOC2 CL E G H57187300957Mental retardation, X-linked 12300957C0796218OMIM11123119073300395
HP:0001419HP:0001419X-linked recessive inheritance0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0001419HP:0001419X-linked recessive inheritance0TRAPPC2 CL E G H6399313400Spondyloepiphyseal dysplasia tarda313400C3541456OMIM15726123068300202
HP:0001419HP:0001419X-linked recessive inheritance0TSPAN7 CL E G H7102300210Mental retardation 58, X-linked300210C1846174OMIM11221311854300096
HP:0001419HP:0001419X-linked recessive inheritance0TSR2 CL E G H90121300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis300946C4225422OMIM1214925455300945
HP:0001419HP:0001419X-linked recessive inheritance0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM1535112469314370
HP:0001419HP:0001419X-linked recessive inheritance0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0001419HP:0001419X-linked recessive inheritance0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM12122220439300298
HP:0001419HP:0001419X-linked recessive inheritance0USP27X CL E G H389856300984Mental retardation, X-linked 105300984C4310816OMIM1216913486300975
HP:0001419HP:0001419X-linked recessive inheritance0USP9X CL E G H8239300919Mental retardation, X-linked 99300919C3806746OMIM12826912632300072
HP:0001419HP:0001419X-linked recessive inheritance0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM11120822082300913
HP:0001419HP:0001419X-linked recessive inheritance0WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM144134512731300392
HP:0001419HP:0001419X-linked recessive inheritance0WAS CL E G H7454313900Thrombocytopenia, X-linked313900C1839163OMIM144134512731300392
HP:0001419HP:0001419X-linked recessive inheritance0WAS CL E G H7454301000Wiskott-Aldrich syndrome301000C0043194OMIM144134512731300392
HP:0001419HP:0001419X-linked recessive inheritance0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0001419HP:0001419X-linked recessive inheritance0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11719424931300897
HP:0001419HP:0001419X-linked recessive inheritance0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM14225212874300265
HP:0001419HP:0001419X-linked recessive inheritance0ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM14225212874300265
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001419HP:0001419X-linked recessive inheritance0AIPL1 CL E G H23746268000Retinitis pigmentosa268000C0035334OMIM079232359604392
HP:0001419HP:0001419X-linked recessive inheritance0ARL6 CL E G H84100268000Retinitis pigmentosa268000C0035334OMIM0217913210608845
HP:0001419HP:0001419X-linked recessive inheritance0C8orf37 CL E G H157657268000Retinitis pigmentosa268000C0035334OMIM01711927232614477
HP:0001419HP:0001419X-linked recessive inheritance0CLRN1 CL E G H7401268000Retinitis pigmentosa268000C0035334OMIM03917512605606397
HP:0001419HP:0001419X-linked recessive inheritance0CNGA1 CL E G H1259268000Retinitis pigmentosa268000C0035334OMIM0331672148123825
HP:0001419HP:0001419X-linked recessive inheritance0CRX CL E G H1406268000Retinitis pigmentosa268000C0035334OMIM01072982383602225
HP:0001419HP:0001419X-linked recessive inheritance0LRAT CL E G H9227268000Retinitis pigmentosa268000C0035334OMIM0241586685604863
HP:0001419HP:0001419X-linked recessive inheritance0PDE6G CL E G H5148268000Retinitis pigmentosa268000C0035334OMIM02598789180073
HP:0001419HP:0001419X-linked recessive inheritance0RBP3 CL E G H5949268000Retinitis pigmentosa268000C0035334OMIM0183779921180290
HP:0001419HP:0001419X-linked recessive inheritance0ROM1 CL E G H6094268000Retinitis pigmentosa268000C0035334OMIM01811310254180721


Genes (158) :ABCA4 ABCB7 ABCD1 AFF2 AIFM1 AIPL1 ALAS2 ALG13 AMMECR1 ANOS1 AP1S2 AR ARHGEF9 ARL6 ARSE ARX ATP2B3 ATP6AP1 ATP6AP2 ATP7A ATRX AVPR2 BCAP31 BGN BRWD3 BTK C8ORF37 CACNA1F CASK CCDC22 CD40LG CFP CHRDL1 CLCN4 CLCN5 CLIC2 CLRN1 CNGA1 COL4A6 CRX CUL4B CYBB DDX3X DKC1 DLG3 DMD EBP EDA EIF2S3 EMD F8 F9 FANCB FGD1 FGF16 FHL1 FLNA FOXP3 FRMD7 FRMPD4 FTSJ1 G6PD GATA1 GJB1 GJB2 GJB6 GK GLA GPC3 GPC4 GPR179 GRIA3 HCFC1 HPRT1 IDS IGBP1 IGF2 IGSF1 IKBKG IL1RAPL1 IL2RG IQSEC2 KDM5C KIF4A KLHL15 L1CAM LAS1L LRAT MAGED2 MAMLD1 MAOA MBTPS2 MECP2 MED12 MID1 MID2 MSN MTM1 NAA10 NDP NEXMIF NONO NR0B1 NSDHL NYX OCRL OFD1 OPHN1 OPN1LW OPN1MW OTC PAK3 PDE6G PGK1 PHF6 PHF8 PHKA1 PHKA2 PIGA PIH1D3 PLP1 POF1B POLA1 POU3F4 PQBP1 PRPS1 RAB39B RBM10 RBMX RBP3 RLIM ROM1 RPGR SH2D1A SLC6A8 SMC1A SMS SSR4 STS SYN1 TAF1 TAZ TEX11 THOC2 TIMM8A TRAPPC2 TSPAN7 TSR2 UBA1 UBE2A UPF3B USP27X USP9X VMA21 WAS XIAP ZC4H2 ZIC3

Diseases (193) :604116 301310 300100 309548 300816 310490 300614 268000 300751 300884 300990 308700 304340 300068 313200 300633 312300 300607 302950 308350 300419 309510 302500 300972 300423 300911 304150 300489 309400 309580 304800 300539 300475 300106 300659 300755 307200 300476 300908 300963 308230 312060 309300 300114 300009 300554 308990 310468 300886 300914 300354 300645 306400 300958 305000 300850 300376 310200 300960 305100 300148 310300 306700 306900 300514 314390 305400 309630 300696 300280 314400 305620 300048 304790 310700 300983 309549 300835 300367 314050 302800 304400 307030 301500 312870 614565 300699 309541 300322 300323 309900 300472 616489 300888 300636 300291 300584 300143 312863 300400 309530 300534 300923 300982 304100 303350 307000 309585 300971 300758 300615 308205 308800 300918 300260 300055 300673 305450 300895 309520 300000 300928 300988 310400 300855 310600 305390 300912 300967 300200 300831 310500 300555 309000 300804 300424 300209 300486 303700 303900 303800 311250 300558 300653 301900 300263 300559 306000 300868 300991 312080 312920 300604 301220 309500 301835 311070 304500 300661 300271 311510 311900 300238 300978 300834 300455 308240 300352 300590 309583 300934 308100 300491 314250 300966 302060 309120 300957 304700 313400 300210 300946 301830 300860 300676 300984 300919 310440 300299 313900 301000 314580 306955
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.