| Metadata | |
|---|---|
| ID | DOID:0110154 |
| Name | Charcot-Marie-Tooth disease type 2A1 |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/11389829 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 [EXACT] Charcot-Marie-Tooth disease neuronal type 2A1 [EXACT] Charcot-Marie-Tooth neuropathy type 2A1 [EXACT] CMT2A1 [EXACT] hereditary motor and sensory neuropathy IIA1 [EXACT] HMSN IIA1 [EXACT] HMSN2A1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |