| Metadata | |
|---|---|
| ID | DOID:0070150 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070150 Copy |
| Name | hereditary sensory and autonomic neuropathy type 2B |
| Definition | A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15. https://www.ncbi.nlm.nih.gov/pubmed/19838196, https://www.ncbi.nlm.nih.gov/pubmed/24327336 |
| Xrefs |
SNOMEDCT_US_2025_09_01:860810005 |
| SKOS |
exactMatch MIM:613115 exactMatch UMLS_CUI:C2751092 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type IIB [EXACT] HSAN2B [EXACT] |
| Parent Relationships |