| Metadata | |
|---|---|
| ID | DOID:0070147 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070147 Copy |
| Name | hereditary sensory neuropathy type 2C |
| Definition | A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21820098 |
| Xrefs |
SNOMEDCT_US_2025_09_01:1254941001 |
| SKOS |
exactMatch UMLS_CUI:C5768690 exactMatch MIM:614213 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type 2C [EXACT] hereditary sensory and autonomic neuropathy type IIC [EXACT] hereditary sensory neuropathy type IIC [EXACT] HSAN2C [EXACT] HSN2C [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |