| Metadata | |
|---|---|
| ID | DOID:0070156 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070156 Copy |
| Name | hereditary sensory neuropathy type 1D |
| Definition | A hereditary sensory and autonomic neuropathy type 1 characterized by adult 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. https://www.ncbi.nlm.nih.gov/pubmed/21194679 |
| Xrefs |
SNOMEDCT_US_2025_09_01:860811009 |
| SKOS |
exactMatch UMLS_CUI:C5397553 exactMatch MIM:613708 |
| Synonyms |
hereditary sensory and autonomic neuropathy type 1D [EXACT] hereditary sensory and autonomic neuropathy type ID [EXACT] hereditary sensory neuropathy type ID [EXACT] HSAN1D [EXACT] HSN1D [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |