Charcot-Marie-Tooth disease dominant intermediate E

Summary

DOID:0110205 - Charcot-Marie-Tooth disease dominant intermediate E

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.

Synonyms: CMTDIE, Charcot-Marie-Tooth disease-nephropathy syndrome, Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis, autosomal dominant intermediate Charcot-Marie-Tooth disease type E,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: inf2

OMIM:

MIM:614455 - charcot-marie-tooth disease, dominant intermediate e; cmtdie

MIM:614455 - charcot-marie-tooth disease, dominant intermediate e; cmtdie

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

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

Parent(s): Charcot-Marie-Tooth disease intermediate type (is_a)