Charcot-Marie-Tooth Disease Type 4E
Disease ID: disease_node_18829
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:605253, ORDO:99951 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050541, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CMT4E, Charcot-Marie-Tooth neuropathy type 4E, Neuropathy, congenital hypomyelinating, 1, autosomal recessive congenital hypomyelinating or amyelinating neuropathy |
| Doid Label | Charcot-Marie-Tooth disease type 4E |
| Doid Description | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_18829 |
| Doid Id | DOID_0110195 |
| Label | Charcot-Marie-Tooth Disease Type 4E |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 4(ID:disease_node_18827) (Disease) - 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)