| 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 | |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |