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Summary Literature (0)
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

In OMIM:
OMIM:162400 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A

In Mondo Disease Ontology:
MONDO:0008086 - neuropathy, hereditary sensory and autonomic, type 1A

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sptlc1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): hereditary sensory and autonomic neuropathy type 1 (is_a)