Charcot-Marie-Tooth Disease Axonal Type 2K
Disease ID: disease_node_18853
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:G60.0, MIM:607831, ORDO:101097 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0050539 |
| Data Source | DOID |
| Synonyms | ARCMT2K, Charcot-Marie-Tooth neuropathy axonal type 2K, autosomal recessive Charcot-Marie-Tooth disease with hoarseness, autosomal recessive axonal CMT4C4, autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K, autosomal recessive axonal Charcot-Marie-Tooth disease type 2K |
| Doid Label | Charcot-Marie-Tooth disease axonal type 2K |
| Doid Description | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_18853 |
| Doid Id | DOID_0110167 |
| Label | Charcot-Marie-Tooth Disease Axonal Type 2K |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - 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)