| Metadata | |
|---|---|
| ID | DOID:0110170 |
| Name | Charcot-Marie-Tooth disease axonal type 2Q |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. https://www.ncbi.nlm.nih.gov/pubmed/23141294 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2Q [EXACT] Charcot-Marie-Tooth neuropathy type 2Q [EXACT] CMT2Q [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |