Summary Literature (0)

DOID:0110148 - Charcot-Marie-Tooth disease type 1A

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

Synonyms: CMT1A, Charcot-Marie-Tooth neuropathy type 1A, HMSN1A, autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A, hereditary motor and sensory neuropathy 1A, microduplication 17p12,

Echinobase Genes :


OMIM:

MIM:118220 - charcot-marie-tooth disease, demyelinating, type 1a; cmt1a

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

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