| Metadata | |
|---|---|
| ID | DOID:0070838 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070838 Copy |
| Name | Charcot-Marie-tooth disease axonal type 2II |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties, that has_material_basis_in heterozygous mutation in the SLC12A6 gene on chromosome 15q13. https://pubmed.ncbi.nlm.nih.gov/31439721/, https://pubmed.ncbi.nlm.nih.gov/35733399/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5774227 exactMatch MIM:620068 |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT2II [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |