| Metadata | |
|---|---|
| ID | DOID:0110157 |
| Name | Charcot-Marie-Tooth disease type 2J |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10071056 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities [EXACT] Charcot-Marie-Tooth neuropathy type 2J [EXACT] CMT2J [EXACT] |
| Parent Relationships |