Search Ontology:
Human Disease

hereditary sensory and autonomic neuropathy type 7

Term ID
DOID:0070149
Synonyms
  • hereditary sensory and autonomic neuropathy type VII
  • HSAN7
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. https://www.ncbi.nlm.nih.gov/pubmed/24036948
References
Ontology
Human Disease   ( DOID:0070149 )
Relationships
is a type of
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Genes Involved
Zebrafish Models