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Metadata
ID DOID:0110184
Name Charcot-Marie-Tooth disease type 4J
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
https://www.ncbi.nlm.nih.gov/pubmed/17572665
Xrefs

ICD10CM:G60.0

OMIM:611228

ORDO:139515

Subsets

DO_rare_slim

Synonyms

autosomal recessive Charcot-Marie-Tooth disease type 4J [EXACT]

CMT4J [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 4

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