|
DOID:0070152 - hereditary sensory and autonomic neuropathy type 1A
Disease Ontology 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.
Synonyms: HSAN1A, hereditary sensory and autonomic neuropathy type IA,
Echinobase Genes : sptlc1
MIM:162400 - neuropathy, hereditary sensory and autonomic, type ia; hsan1a |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee