| Metadata | |
|---|---|
| ID | DOID:0110187 |
| Name | Charcot-Marie-Tooth disease type 4K |
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/24027061 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K [EXACT] autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K [EXACT] CMT4K [EXACT] SURF1-related Charcot-Marie-Tooth disease type 4 [EXACT] SURF1-related CMT4 [EXACT] SURF1-related severe demyelinating Charcot-Marie-Tooth disease [EXACT] |
| Parent Relationships |