Charcot-Marie-Tooth Disease Type 1E
Disease ID: disease_node_18869
Connections displayed (default: 10).
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| Dbxref | GARD:9190, ICD10CM:G60.0, MIM:118300, ORDO:90658 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050538 |
| Data Source | DOID |
| Synonyms | CMT1E, Charcot-Marie-Tooth disease and deafness, Charcot-Marie-Tooth disease demyelinating type 1E, Charcot-Marie-Tooth disease-deafness, autosomal dominant Charcot-Marie-Tooth neuropathy and deafness |
| Doid Label | Charcot-Marie-Tooth disease type 1E |
| Doid Description | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal domit mutation in the peripheral myelin protein-22 gene (PMP22). |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18869 |
| Doid Id | DOID_0110153 |
| Label | Charcot-Marie-Tooth Disease Type 1E |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 1(ID:disease_node_18867) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)