Charcot-Marie-Tooth Disease Type 4K
Disease ID: disease_node_18833
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:616684, ORDO:391351 |
|---|---|
| Subclassof | DOID_0050541, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CMT4K, SURF1-related CMT4, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K, autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K |
| Doid Label | Charcot-Marie-Tooth disease type 4K |
| Doid Description | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18833 |
| Doid Id | DOID_0110187 |
| Label | Charcot-Marie-Tooth Disease Type 4K |
- 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 4(ID:disease_node_18827) (Disease)