Charcot-Marie-Tooth disease type 1A

Summary

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

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

: pmp22

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007309 - Charcot-Marie-Tooth disease type 1A

MONDO:0007309 - Charcot-Marie-Tooth disease type 1A

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)