| Metadata | |
|---|---|
| ID | DOID:0070840 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070840 Copy |
| Name | Charcot-Marie-tooth disease axonal type 2MM |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by progressive sensorimotor polyneuropathy with age of onset between the first and fifth decade that has_material_basis_in homozygous or compound heterozygous mutation in the COX18 gene on chromosome 4q13. https://pubmed.ncbi.nlm.nih.gov/40830826/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6065956 exactMatch MIM:621488 |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT2MM [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |