Metadata | |
---|---|
ID | DOID:0070153 |
Name | hereditary sensory and autonomic neuropathy type 8 |
Definition | A hereditary sensory 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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
hereditary sensory and autonomic neuropathy type VIII [EXACT] HSAN8 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |