Hereditary Sensory Neuropathy Type 2C
Disease ID: disease_node_19419
Connections displayed (default: 10).
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| Dbxref | MIM:614213 |
|---|---|
| Subclassof | DOID_0070161, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HSN2C, hereditary sensory neuropathy type IIC |
| Doid Label | hereditary sensory neuropathy type 2C |
| Doid Description | A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19419 |
| Doid Id | DOID_0070147 |
| Label | Hereditary Sensory Neuropathy Type 2C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease(ID:disease_node_2018) (Disease)