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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

OMIM:616488

ORDO:478664

Subsets

DO_rare_slim

Synonyms

hereditary sensory and autonomic neuropathy type VIII [EXACT]

HSAN8 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a hereditary sensory neuropathy

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