Human Phenotype Ontology 
Grandparent Node:
expand
Gonosomal inheritance (HP:0010985)help
Parent Node:
expand
X-linked inheritance (HP:0001417)help
..Starting node
..expand
X-linked dominant inheritance (HP:0001423)help
Term ID: 1423
Name: X-linked dominant inheritance
Synonym: X-linked dominant
Definition: A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
Comments:
Reference: HP:0001423
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandX-linked recessive inheritance (HP:0001419) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001423HP:0001423X-linked dominant inheritance0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM172253571300157
HP:0001423HP:0001423X-linked dominant inheritance0ALAS2 CL E G H212300752Protoporphyria, erythropoietic, X-linked300752C2677889OMIM1103269397301300
HP:0001423HP:0001423X-linked dominant inheritance0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11461130881300776
HP:0001423HP:0001423X-linked dominant inheritance0AMELX CL E G H265301200Amelogenesis imperfecta, type 1E301200C1845052OMIM127210461300391
HP:0001423HP:0001423X-linked dominant inheritance0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14124026837300647
HP:0001423HP:0001423X-linked dominant inheritance0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11701074886300032
HP:0001423HP:0001423X-linked dominant inheritance0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15548220893300485
HP:0001423HP:0001423X-linked dominant inheritance0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11195591497300172
HP:0001423HP:0001423X-linked dominant inheritance0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM11123928434300708
HP:0001423HP:0001423X-linked dominant inheritance0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388125011411300203
HP:0001423HP:0001423X-linked dominant inheritance0CHM CL E G H1121303100Choroideremia303100C0008525OMIM12885511940300390
HP:0001423HP:0001423X-linked dominant inheritance0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100019012207303630
HP:0001423HP:0001423X-linked dominant inheritance0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151682291300885
HP:0001423HP:0001423X-linked dominant inheritance0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM151682291300885
HP:0001423HP:0001423X-linked dominant inheritance0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM1784402745300160
HP:0001423HP:0001423X-linked dominant inheritance0DIAPH2 CL E G H1730300511Premature ovarian failure 2a300511C1845293OMIM132122877300108
HP:0001423HP:0001423X-linked dominant inheritance0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912603133300205
HP:0001423HP:0001423X-linked dominant inheritance0EDA CL E G H1896313500Tooth agenesis, selective, X-linked, 1313500C1970757OMIM13304563157300451
HP:0001423HP:0001423X-linked dominant inheritance0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181963226300035
HP:0001423HP:0001423X-linked dominant inheritance0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM1624283702300163
HP:0001423HP:0001423X-linked dominant inheritance0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM1624283702300163
HP:0001423HP:0001423X-linked dominant inheritance0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127118133754300017
HP:0001423HP:0001423X-linked dominant inheritance0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM127118133754300017
HP:0001423HP:0001423X-linked dominant inheritance0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127118133754300017
HP:0001423HP:0001423X-linked dominant inheritance0FLNA CL E G H2316300049Periventricular nodular heterotopia 1300049C1848213OMIM127118133754300017
HP:0001423HP:0001423X-linked dominant inheritance0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1813113775309550
HP:0001423HP:0001423X-linked dominant inheritance0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM1813113775309550
HP:0001423HP:0001423X-linked dominant inheritance0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1953358079300628
HP:0001423HP:0001423X-linked dominant inheritance0GDI1 CL E G H2664300849X-Linked Mental Retardation 41300849C3887939OMIM1122564226300104
HP:0001423HP:0001423X-linked dominant inheritance0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14997294283304040
HP:0001423HP:0001423X-linked dominant inheritance0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1372194289300474
HP:0001423HP:0001423X-linked dominant inheritance0GPR101 CL E G H83550300942Chromosome Xq26.3 duplication syndrome300942C3891556OMIM11819614963300393
HP:0001423HP:0001423X-linked dominant inheritance0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142134837300056
HP:0001423HP:0001423X-linked dominant inheritance0HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1320714064300272
HP:0001423HP:0001423X-linked dominant inheritance0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15626013315300269
HP:0001423HP:0001423X-linked dominant inheritance0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141845042300610
HP:0001423HP:0001423X-linked dominant inheritance0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171954800300256
HP:0001423HP:0001423X-linked dominant inheritance0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0001423HP:0001423X-linked dominant inheritance0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15772629059300522
HP:0001423HP:0001423X-linked dominant inheritance0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM18146512637300128
HP:0001423HP:0001423X-linked dominant inheritance0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM11036226501309060
HP:0001423HP:0001423X-linked dominant inheritance0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1420425726300964
HP:0001423HP:0001423X-linked dominant inheritance0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105015846990300005
HP:0001423HP:0001423X-linked dominant inheritance0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11032718704300013
HP:0001423HP:0001423X-linked dominant inheritance0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1617720372300403
HP:0001423HP:0001423X-linked dominant inheritance0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM1617720372300403
HP:0001423HP:0001423X-linked dominant inheritance0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001423HP:0001423X-linked dominant inheritance0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523947820300457
HP:0001423HP:0001423X-linked dominant inheritance0NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM13128213398300275
HP:0001423HP:0001423X-linked dominant inheritance0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11626332567300170
HP:0001423HP:0001423X-linked dominant inheritance0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0001423HP:0001423X-linked dominant inheritance0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM142578811300906
HP:0001423HP:0001423X-linked dominant inheritance0PHEX CL E G H5251307800Familial X-linked hypophosphatemic vitamin D refractory rickets307800C0733682OMIM14579648918300550
HP:0001423HP:0001423X-linked dominant inheritance0PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM1192279091300131
HP:0001423HP:0001423X-linked dominant inheritance0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112122917652300651
HP:0001423HP:0001423X-linked dominant inheritance0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1118312974300951
HP:0001423HP:0001423X-linked dominant inheritance0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117137310432300075
HP:0001423HP:0001423X-linked dominant inheritance0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM117137310432300075
HP:0001423HP:0001423X-linked dominant inheritance0RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM127954810457300839
HP:0001423HP:0001423X-linked dominant inheritance0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18827910923300095
HP:0001423HP:0001423X-linked dominant inheritance0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11832611022314375
HP:0001423HP:0001423X-linked dominant inheritance0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12843511079300231
HP:0001423HP:0001423X-linked dominant inheritance0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110061111111300040
HP:0001423HP:0001423X-linked dominant inheritance0SMPX CL E G H23676300066Deafness, X-linked 4300066C1848204OMIM11519711122300226
HP:0001423HP:0001423X-linked dominant inheritance0SYN1 CL E G H6853300491Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491C1845343OMIM1837311494313440
HP:0001423HP:0001423X-linked dominant inheritance0SYP CL E G H6855300802Mental retardation, X-linked 96300802C3275408OMIM1818311506313475
HP:0001423HP:0001423X-linked dominant inheritance0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM13119512509300264
HP:0001423HP:0001423X-linked dominant inheritance0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12844012632300072
HP:0001423HP:0001423X-linked dominant inheritance0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0001423HP:0001423X-linked dominant inheritance0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1118020342300576
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (62) :ACSL4 ALAS2 ALG13 AMELX AMER1 ATRX BCOR CASK CCNQ CDKL5 CHM COL4A5 COX7B DDX3X DIAPH2 EBP EDA EFNB1 FHL1 FLNA FMR1 FRMD7 GDI1 GJB1 GK GPR101 HCCS HDAC6 HDAC8 HNRNPH2 HSD17B10 IKBKG IQSEC2 KDM6A LAMP2 LAS1L MECP2 NAA10 NDUFB11 NDUFS4 NHS NSDHL OFD1 PDHA1 PDK3 PHEX PLS3 PORCN RNF113A RPS6KA3 RS1 SLC16A2 SLC35A2 SLC9A6 SMC1A SMPX SYN1 SYP UBQLN2 USP9X WDR45 ZDHHC15

Diseases (68) :300387 300752 300884 301200 300373 301040 300166 300749 300707 300672 303100 301050 309801 300887 300958 300511 302960 313500 304110 300717 300695 309350 311300 304120 300049 300624 300623 310700 300849 302800 307030 300942 300863 300882 300986 300438 308300 309530 300867 300257 309585 312750 300855 300952 252010 302350 308050 311200 312170 300905 307800 300910 305600 300953 303600 300844 312700 300523 300896 300243 300590 300066 300491 300802 300857 300968 300894 300577
 

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