Charcot-Marie-Tooth disease type 4H

Summary

DOID:0110192 - Charcot-Marie-Tooth disease type 4H

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).

Synonyms: autosomal recessive Charcot-Marie-Tooth disease type 4H, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth neuropathy type 4H, CMT4H

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

: fgd4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012250 - cervix glandular epithelium

MONDO:0012250 - cervix glandular epithelium

MIM:

MIM:609311 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H; CMT4H

MIM:609311 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H; CMT4H

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

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

Parent(s): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 4 (is_a)