Charcot-Marie-Tooth disease axonal type 2F

Summary

DOID:0110163 - Charcot-Marie-Tooth disease axonal type 2F

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).

Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2F, Charcot-Marie-Tooth neuronal type 2F, Charcot-Marie-Tooth neuropathy type 2F, CMT2F

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

: hspb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F

MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F

MIM:

MIM:606595 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F

MIM:606595 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F

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 2 (is_a)