| Metadata | |
|---|---|
| ID | DOID:0110171 |
| Name | Charcot-Marie-Tooth disease axonal type 2S |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25439726 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive axonal Charcot-Marie-Tooth type 2S [EXACT] Charcot-Marie-Tooth disease type 2S [EXACT] Charcot-Marie-Tooth neuropathy type 2S [EXACT] CMT2S [EXACT] |
| Parent Relationships |