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Metadata
ID DOID:0110200
Name Charcot-Marie-Tooth disease dominant intermediate D
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
https://www.ncbi.nlm.nih.gov/pubmed/10406984
Xrefs

ICD10CM:G60.0

MESH:C564333

OMIM:607791

ORDO:100046

Subsets

DO_rare_slim

Synonyms

autosomal dominant intermediate Charcot-Marie-Tooth disease type D [EXACT]

Charcot-Marie-Tooth neuropathy dominant intermediate D [EXACT]

CMTDID [EXACT]

DI-CMTD [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease intermediate type

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