Hereditary Sensory And Autonomic Neuropathy Type 2A
Disease ID: disease_node_19417
Connections displayed (default: 10).
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| Dbxref | MIM:201300 |
|---|---|
| Subclassof | DOID_0070161, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HSAN2A, hereditary sensory and autonomic neuropathy type IIA |
| Doid Label | hereditary sensory and autonomic neuropathy type 2A |
| Doid Description | A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19417 |
| Doid Id | DOID_0070155 |
| Label | Hereditary Sensory And Autonomic Neuropathy Type 2A |
- 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)