hereditary sensory and autonomic neuropathy type 8

Summary

DOID:0070153 - hereditary sensory and autonomic neuropathy type 8

Disease Ontology 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.

Synonyms: hereditary sensory and autonomic neuropathy type VIII, HSAN8

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prdm12

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014662 - congenital insensitivity to pain-hypohidrosis syndrome

MONDO:0014662 - congenital insensitivity to pain-hypohidrosis syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hereditary sensory neuropathy (is_a)