Charcot-Marie-Tooth Disease Type 2Ee
Disease ID: disease_node_18864
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618400 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050539 |
| Data Source | DOID |
| Synonyms | CMT2EE, Charcot-Marie-Tooth disease, axonal, type 2EE |
| Doid Label | Charcot-Marie-Tooth disease type 2EE |
| Doid Description | A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18864 |
| Doid Id | DOID_0111559 |
| Label | Charcot-Marie-Tooth Disease Type 2Ee |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)