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Metadata
ID DOID:0110181
Name Charcot-Marie-Tooth disease axonal type 2Z
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
https://www.ncbi.nlm.nih.gov/pubmed/26497905
Xrefs

OMIM:616688

ORDO:466768

Subsets

DO_rare_slim

Synonyms

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

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

CMT2Z [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 2

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