Charcot-Marie-Tooth Disease Recessive Intermediate C
Disease ID: disease_node_18820
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:615376, ORDO:369867 |
|---|---|
| Subclassof | DOID_0050543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CMTRIC, RI-CMT type C, RI-CMTC, autosomal recessive intermediate Charcot-Marie-Tooth disease type C |
| Doid Label | Charcot-Marie-Tooth disease recessive intermediate C |
| Doid Description | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18820 |
| Doid Id | DOID_0110198 |
| Label | Charcot-Marie-Tooth Disease Recessive Intermediate C |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Intermediate Type(ID:disease_node_18815) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)