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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:X-linked dominant inheritance
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Accession:HP:0001423 term browser browse the term
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.
Synonyms:exact_synonym: X-LINKED DOMINANT
 xref: UMLS:C1847879


show annotations for term's descendants           Sort by:
X-linked dominant inheritance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO OMIM:300387 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IAGP HPO OMIM:300752 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G AMELX amelogenin X-linked IAGP HPO OMIM:301200 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:301040 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO OMIM:300749 OMIM:300908 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CCNQ cyclin Q IAGP HPO OMIM:300707 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO OMIM:300672 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: X-linked dominant inheritance ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO OMIM:300114 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO OMIM:301050 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:300887 OMIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO OMIM:300958 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DIAPH2 diaphanous related formin 2 IAGP HPO OMIM:300511 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EDA ectodysplasin A IAGP HPO OMIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO OMIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G F8 coagulation factor VIII IAGP HPO OMIM:301071 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300695 OMIM:300717 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:300049 OMIM:300244 OMIM:304120 OMIM:309350 OMIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO OMIM:300623 OMIM:300624 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP HPO OMIM:300908 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP HPO OMIM:300849 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO OMIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO OMIM:300942 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO OMIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP HPO OMIM:300863 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO OMIM:300882 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO OMIM:300986 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO OMIM:300438 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO OMIM:309530 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:300867 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO OMIM:300257 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO OMIM:312750 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MSL3 MSL complex subunit 3 IAGP HPO OMIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO OMIM:300952 OMIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO OMIM:300912 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO OMIM:302350 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO OMIM:312170 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO OMIM:300905 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO OMIM:300953 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO OMIM:300844 OMIM:303600 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO OMIM:300896 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO OMIM:300590 OMIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO OMIM:300066 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SRY sex determining region Y IAGP HPO OMIM:400045 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G SYN1 synapsin I IAGP HPO OMIM:300491 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP HPO OMIM:301094 NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO OMIM:301080 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO OMIM:300857 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO OMIM:300968 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO OMIM:300894 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO OMIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 IAGP HPO OMIM:301111 NCBI chr  X:71,239,624...71,255,290
Ensembl chr  X:71,239,624...71,255,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Mode of inheritance 4760
      Mendelian inheritance 4708
        X-linked inheritance 256
          X-linked dominant inheritance 63
paths to the root