Charcot-Marie-Tooth disease X-linked dominant 1

Summary

DOID:0110209 - Charcot-Marie-Tooth disease X-linked dominant 1

Disease Ontology Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.

Synonyms: Charcot-Marie-Tooth neuropathy X-linked dominant 1, CMT1X, CMTX1, X-linked Charcot-Marie-Tooth disease type 1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gjb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010549 - pedal digit 3 metatarsal pre-cartilage condensation

MONDO:0010549 - pedal digit 3 metatarsal pre-cartilage condensation

MIM:

MIM:302800 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1

MIM:302800 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Charcot-Marie-Tooth disease type X (is_a), X-linked dominant disease (is_a)