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Metadata
ID DOID:0110150
Name Charcot-Marie-Tooth disease type 1D
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
https://www.ncbi.nlm.nih.gov/pubmed/9537424
Xrefs

ICD10CM:G60.0

OMIM:607678

ORDO:101084

Synonyms

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

CMT1D [EXACT]

hereditary motor and sensory neuropathy 1D [EXACT]

HMSN ID [EXACT]

HMSN1D [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 1

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