Charcot-Marie-Tooth Disease Axonal Type 2H
Disease ID: disease_node_18854
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:607731, ORDO:101102 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050539 |
| Data Source | DOID |
| Synonyms | AR-CMT2C, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, CMT2H, Charcot-Marie-Tooth disease type 2H, autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features, autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features |
| Doid Label | Charcot-Marie-Tooth disease axonal type 2H |
| Doid Description | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18854 |
| Doid Id | DOID_0110166 |
| Label | Charcot-Marie-Tooth Disease Axonal Type 2H |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease)