Charcot-Marie-Tooth Disease Recessive Intermediate B
Disease ID: disease_node_18818
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:613641, ORDO:254334 |
|---|---|
| Subclassof | DOID_0050543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CMTRIB, Charcot-Marie-Tooth neuropathy recessive intermediate B, RI-CMTB, autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
| Doid Label | Charcot-Marie-Tooth disease recessive intermediate B |
| Doid Description | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18818 |
| Doid Id | DOID_0110204 |
| Label | Charcot-Marie-Tooth Disease Recessive Intermediate B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Intermediate Type(ID:disease_node_18815) (Disease)