ZFIN Human Disease: hereditary sensory and autonomic neuropathy type 7

OBO ID: DOID:0070149

Term Name:	hereditary sensory and autonomic neuropathy type 7		Search Ontology:
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:	GARD:12723 ICD10CM:G60.8 OMIM:615548 ORDO:391397
Ontology:	Human Disease ( DOID:0070149 )

Relationships

is a type of:	autosomal dominant disease hereditary sensory neuropathy autosomal dominant disease hereditary sensory neuropathy Show first 5 Terms

OTHER hereditary sensory and autonomic neuropathy type 7 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCN11A		Neuropathy, hereditary sensory and autonomic, type VII

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None