| Metadata | |
|---|---|
| ID | DOID:0110164 |
| Name | Charcot-Marie-Tooth disease type 2D |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. https://www.ncbi.nlm.nih.gov/pubmed/12690580 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease type 2D [EXACT] Charcot-Marie-Tooth disease neuronal type 2D [EXACT] Charcot-Marie-Tooth neuropathy type 2D [EXACT] CMT2D [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |