Hereditary Sensory And Autonomic Neuropathy Type 8
Disease ID: disease_node_19423
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| Dbxref | MIM:616488, ORDO:478664 |
|---|---|
| Subclassof | DOID_0050548, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HSAN8, hereditary sensory and autonomic neuropathy type VIII |
| Doid Label | hereditary sensory and autonomic neuropathy type 8 |
| Doid Description | A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19423 |
| Doid Id | DOID_0070153 |
| Label | Hereditary Sensory And Autonomic Neuropathy Type 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)