| Metadata | |
|---|---|
| ID | DOID:0110165 |
| Name | Charcot-Marie-Tooth disease type 2E |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. https://www.ncbi.nlm.nih.gov/pubmed/10841809, https://www.ncbi.nlm.nih.gov/pubmed/17620486 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease type 2E [EXACT] Charcot-Marie-Tooth neuropathy type 2E [EXACT] CMT2E [EXACT] |
| Parent Relationships |