Charcot-Marie-Tooth disease type 2J

Summary

DOID:0110157 - Charcot-Marie-Tooth disease type 2J

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

Synonyms: Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth neuropathy type 2J, CMT2J

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

: mpz

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011903 - Charcot-Marie-Tooth disease type 2J

MONDO:0011903 - Charcot-Marie-Tooth disease type 2J

MIM:

MIM:607736 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J

MIM:607736 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J

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)