Charcot-Marie-Tooth Disease Domit Intermediate E
Disease ID: disease_node_18817
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:614455, ORDO:93114 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050543 |
| Data Source | DOID |
| Synonyms | CMTDIE, Charcot-Marie-Tooth disease-nephropathy syndrome, Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis, autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
| Doid Label | Charcot-Marie-Tooth disease domit intermediate E |
| Doid Description | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18817 |
| Doid Id | DOID_0110205 |
| Label | Charcot-Marie-Tooth Disease Domit Intermediate E |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Intermediate Type(ID:disease_node_18815) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)