| Metadata | |
|---|---|
| ID | DOID:0070839 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070839 Copy |
| Name | Charcot-Marie-tooth disease axonal type 2LL |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by childhood-onset progressive gait difficulties, distal muscle weakness and atrophy, and areflexia that has_material_basis_in compound heterozygous mutation in the DARS2 gene, encoding mitochondrial aspartyl-tRNA synthetase, on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/40814755/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621485 exactMatch UMLS_CUI:C6065954 |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT2LL [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |