| Metadata | |
|---|---|
| ID | DOID:0110155 |
| Name | Charcot-Marie-Tooth disease type 2A2A |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. https://www.ncbi.nlm.nih.gov/pubmed/15064763, https://www.ncbi.nlm.nih.gov/pubmed/19889647 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 [EXACT] Charcot-Marie-Tooth neuronal type 2A2 [EXACT] Charcot-Marie-Tooth neuropathy type 2A2 [EXACT] CMT2A2A [EXACT] hereditary motor and sensory neuropathy IIA2 [EXACT] HMSN IIA2 [EXACT] HMSN2A2 [EXACT] |
| Parent Relationships |