Charcot-Marie-Tooth Disease Axonal Type 2Q
Disease ID: disease_node_18850
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:G60.0, MIM:615025, ORDO:329258 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050539 |
| Data Source | DOID |
| Synonyms | CMT2Q, Charcot-Marie-Tooth neuropathy type 2Q, autosomal dominant Charcot-Marie-Tooth disease type 2Q, autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q |
| Doid Label | Charcot-Marie-Tooth disease axonal type 2Q |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18850 |
| Doid Id | DOID_0110170 |
| Label | Charcot-Marie-Tooth Disease Axonal Type 2Q |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease)