| Metadata | |
|---|---|
| ID | DOID:0110183 |
| Name | Charcot-Marie-Tooth disease type 4C |
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. https://www.ncbi.nlm.nih.gov/pubmed/14574644 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C [EXACT] Charcot-Marie-Tooth neuropathy type 4C [EXACT] CMT4C [EXACT] |
| Parent Relationships |