ZFIN Human Disease: hereditary sensory and autonomic neuropathy type 1A

OBO ID: DOID:0070152

Term Name:	hereditary sensory and autonomic neuropathy type 1A		Search Ontology:
Synonyms:	hereditary sensory and autonomic neuropathy type IA HSAN1A
Definition:	A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/11242114
References:	OMIM:162400
Ontology:	Human Disease ( DOID:0070152 )

Relationships

is a type of:	autosomal dominant disease hereditary sensory and autonomic neuropathy type 1 autosomal dominant disease hereditary sensory and autonomic neuropathy type 1 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SPTLC1	sptlc1	Neuropathy, hereditary sensory and autonomic, type IA	162400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None