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Metadata
ID DOID:0110152
Name Charcot-Marie-Tooth disease type 1B
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
https://www.ncbi.nlm.nih.gov/pubmed/7693129
Xrefs

ICD10CM:G60.0

MIM:118200

ORDO:101082

Subsets

DO_rare_slim

Synonyms

autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B [EXACT]

Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [EXACT]

Charcot-Marie-Tooth neuropathy type 1B [EXACT]

CMT1B [EXACT]

hereditary motor and sensory neuropathy IB [EXACT]

HMSN IB [EXACT]

HMSN1B [EXACT]

peroneal muscular atrophy [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 1

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