Term Name: | hereditary sensory and autonomic neuropathy type 7 |
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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. |
Ontology: | Human Disease [DOID:0070149] ( DOID:0070149 ) |