Search Ontology:
Human Disease

hereditary sensory and autonomic neuropathy type 1A

Term ID
DOID:0070152
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
Ontology
Human Disease   ( DOID:0070152 )
Relationships
is a type of
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Genes Involved
Zebrafish Models