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DOID:0070157 - hereditary sensory and autonomic neuropathy type 1C
Disease Ontology Definition:A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
Synonyms: hereditary sensory and autonomic neuropathy type IC, HSAN1C
Xenbase Genes
:
sptlc2
| MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C |
| MIM:613640 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal dominant disease (is_a),
hereditary sensory and autonomic neuropathy type 1 (is_a)