Charcot-Marie-Tooth Disease Recessive Intermediate D
Disease ID: disease_node_18819
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:616039, ORDO:435998 |
|---|---|
| Subclassof | DOID_0050543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CMTRID, RI-CMT type D, autosomal recessive intermediate Charcot-Marie-Tooth disease type D |
| Doid Label | Charcot-Marie-Tooth disease recessive intermediate D |
| Doid Description | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18819 |
| Doid Id | DOID_0110203 |
| Label | Charcot-Marie-Tooth Disease Recessive Intermediate D |
- 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)