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 |