Metadata | |
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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 | |
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 |