hereditary sensory and autonomic neuropathy type 7

Summary

DOID:0070149 - hereditary sensory and autonomic neuropathy type 7

Disease Ontology Definition:A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.

Synonyms: hereditary sensory and autonomic neuropathy type VII, HSAN7

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

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014244 - hereditary sensory and autonomic neuropathy type 7

MONDO:0014244 - hereditary sensory and autonomic neuropathy type 7

MIM:

MIM:615548 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7

MIM:615548 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7

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

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

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