hereditary sensory and autonomic neuropathy type 8

Term ID

DOID:0070153

Synonyms

• hereditary sensory and autonomic neuropathy type VIII
• HSAN8

Definition

A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/26005867

References

• MIM:616488
• ORDO:478664
• SNOMEDCT_US_2025_09_01:1172838005
• UMLS_CUI:C4225308

Ontology

Human Disease   ( DOID:0070153 )