| Metadata | |
|---|---|
| ID | DOID:0110177 |
| Name | Charcot-Marie-Tooth disease axonal type 2N |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/20045102 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2N [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2N [EXACT] Charcot-Marie-Tooth neuropathy axonal type 2N [EXACT] CMT2N [EXACT] |
| Parent Relationships |