Pain Insensitivity, Congenital
Disease ID: disease_node_1169
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| Dbxref | GARD:12328, MESH:D000699, MESH:D009477, MIM:608654, NCI:C156360, ORDO:608654, SNOMEDCT_US_2023_03_01:128206006, SNOMEDCT_US_2023_03_01:403605007, UMLS_CUI:C0002768, UMLS_CUI:C0020075 |
|---|---|
| Subclassof | DOID_0050548, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | HSAN5, hereditary sensory and autonomic neuropathy type V |
| Mesh Id | D000699 |
| Mesh Label | Pain Insensitivity, Congenital |
| Mesh Subclassof | D030342, D010523 |
| Doid Label | hereditary sensory and autonomic neuropathy type 5 |
| Doid Description | A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_1169 |
| Doid Id | DOID_0070145 |
| Label | Pain Insensitivity, Congenital |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)