hereditary sensory and autonomic neuropathy type 6

Summary

DOID:0070151 - hereditary sensory and autonomic neuropathy type 6

Disease Ontology Definition:A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.

Synonyms: hereditary sensory and autonomic neuropathy type VI, HSAN6

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

: dst

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013839 - hereditary sensory and autonomic neuropathy type 6

MONDO:0013839 - hereditary sensory and autonomic neuropathy type 6

MIM:

MIM:614653 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6

MIM:614653 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6

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)