Charcot-Marie-Tooth disease dominant intermediate F

Summary

DOID:0110206 - Charcot-Marie-Tooth disease dominant intermediate F

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.

Synonyms: autosomal dominant intermediate Charcot-Marie-Tooth disease type F, CMTDIF

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

: gnb4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

MIM:

MIM:615185 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF

MIM:615185 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF

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

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

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease intermediate type (is_a)