Charcot-Marie-Tooth disease type 1D

Summary

DOID:0110150 - Charcot-Marie-Tooth disease type 1D

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).

Synonyms: Charcot-Marie-Tooth neuropathy type 1D, CMT1D, hereditary motor and sensory neuropathy 1D, HMSN1D, HMSN ID

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

: egr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011890 - Charcot-Marie-Tooth disease type 1D

MONDO:0011890 - Charcot-Marie-Tooth disease type 1D

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 type 1 (is_a)