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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandHypertrichosis (D006983)
..Starting node
..expandHypertrichosis congenital generalized X-linked (C538388)

       Child Nodes:



 Sister Nodes: 
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAmaurosis hypertrichosis (C536604)
..expandAmbras syndrome (C536605)
..expandBarber Say syndrome (C537908)
..expandCAHMR syndrome (C537959)
..expandCantu syndrome (C535572)
..expandCervical hypertrichosis neuropathy (C537956)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCongenital hypertrichosis lanuginosa (C538389)
..expandFacial Hypertrichosis (C565029)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandGorlin Chaudhry Moss syndrome (C537290)
..expandHairy Ears (C562484)
..expandHairy Ears, Y-Linked (C564029)
..expandHairy elbows (C535618)
..expandHairy nose tip (C535619)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..expandHypertrichosis, anterior cervical (C538390)
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..expandHypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..expandMidphalangeal hair (C537471)
..expandMuller Barth Menger syndrome (C537370)
..expandOliver-McFarlane syndrome (C536554)
..expandRamon Syndrome (C535285)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandWiedemann Grosse Dibbern syndrome (C536704)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5510
Name:Hypertrichosis congenital generalized X-linked
Definition:
Alternative IDs:OMIM:307150
ParentIDs:MESH:D006983|MESH:D040181
TreeNumbers:C16.320.322/C538388 |C17.800.329.875/C538388
Synonyms:CGH |CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME |HCG |HTC2 |Hypertrichosis, Congenital Generalized |Macias-Flores Garcia-Cruz Rivera syndrome
Slim Mappings:Genetic disease (inborn)|Skin disease
Reference: MedGen: C538388
MeSH: C538388
OMIM: 307150;

Genes: AF8T;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0001417X-linked inheritance
3 HP:0004540Congenital, generalized hypertrichosis
4 HP:0001007Hirsutism
5 HP:0002650ScoliosisHP:0040283
Disease Causing ClinVar Variants