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DOID:0070155 - hereditary sensory and autonomic neuropathy type 2A
Disease Ontology Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
Synonyms: HSAN2A, hereditary sensory and autonomic neuropathy type IIA,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
hereditary sensory and autonomic neuropathy type 2 (is_a)