Charcot-Marie-Tooth Disease Type 2E
Disease ID: disease_node_18855
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:607684, ORDO:99939 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050539 |
| Data Source | DOID |
| Synonyms | CMT2E, Charcot-Marie-Tooth neuropathy type 2E, autosomal dominant Charcot-Marie-Tooth disease type 2E |
| Doid Label | Charcot-Marie-Tooth disease type 2E |
| Doid Description | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18855 |
| Doid Id | DOID_0110165 |
| Label | Charcot-Marie-Tooth Disease Type 2E |
- 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)