Hereditary Sensory Neuropathy Type 1D
Disease ID: disease_node_19414
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| Dbxref | MIM:613708 |
|---|---|
| Subclassof | DOID_0050736, DOID_0070162 |
| Data Source | DOID |
| Synonyms | HSN1D |
| Doid Label | hereditary sensory neuropathy type 1D |
| Doid Description | A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19414 |
| Doid Id | DOID_0070156 |
| Label | Hereditary Sensory Neuropathy Type 1D |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)