Metadata | |
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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 | |
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 |