ZFIN Human Disease: hereditary sensory and autonomic neuropathy type 8

OBO ID: DOID:0070153

Term Name:	hereditary sensory and autonomic neuropathy type 8		Search Ontology:
Synonyms:	hereditary sensory and autonomic neuropathy type VIII HSAN8
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
References:	OMIM:616488 ORDO:478664
Ontology:	Human Disease ( DOID:0070153 )

Relationships

is a type of:	autosomal recessive disease hereditary sensory neuropathy autosomal recessive disease hereditary sensory neuropathy Show first 5 Terms

OTHER hereditary sensory and autonomic neuropathy type 8 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRDM12	prdm12a prdm12b	Neuropathy, hereditary sensory and autonomic, type VIII	616488

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None