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Metadata
ID DOID:0110159
Name Charcot-Marie-Tooth disease type 2B
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
https://www.ncbi.nlm.nih.gov/pubmed/12545426
Xrefs

GARD:9192

ICD10CM:G60.0

OMIM:600882

ORDO:99936

Synonyms

autosomal dominant Charcot-Marie-Tooth disease type 2B [EXACT]

Charcot-Marie-Tooth neuropathy type 2B [EXACT]

CMT2B [EXACT]

hereditary motor and sensory nueropathy IIB [EXACT]

HMSN IIB [EXACT]

HMSN2B [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 2

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