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Metadata
ID DOID:0070149
Name hereditary sensory and autonomic neuropathy type 7
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
Xrefs

GARD:12723

ICD10CM:G60.8

OMIM:615548

ORDO:391397

Subsets

DO_rare_slim

Synonyms

hereditary sensory and autonomic neuropathy type VII [EXACT]

HSAN7 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hereditary sensory neuropathy

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