| Metadata | |
|---|---|
| ID | DOID:0110167 |
| Name | Charcot-Marie-Tooth disease axonal type 2K |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. https://www.ncbi.nlm.nih.gov/pubmed/12707075 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCMT2K [EXACT] autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K [EXACT] autosomal recessive axonal Charcot-Marie-Tooth disease type 2K [EXACT] autosomal recessive axonal CMT4C4 [EXACT] autosomal recessive Charcot-Marie-Tooth disease with hoarseness [EXACT] Charcot-Marie-Tooth neuropathy axonal type 2K [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease |