| Metadata | |
|---|---|
| ID | DOID:0070836 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070836 Copy |
| Name | Charcot-Marie-tooth disease axonal type 2FF |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs that has_material_basis_in heterozygous mutation in the CADM3 gene on chromosome 1q21. Additional symptoms include foot and ankle deformities requiring surgery or walking aids, variable distal sensory impairment, and prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles. https://pubmed.ncbi.nlm.nih.gov/33889941/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5561981 exactMatch MIM:619519 |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT2FF [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |