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DOID:0070161 - hereditary sensory and autonomic neuropathy type 2
Disease Ontology Definition:A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis.
Synonyms: hereditary sensory and autonomic neuropathy type II, HSAN2, hereditary sensory neuropathy type 2, hereditary sensory neuropathy type II, HSN2
Xenbase Genes
:
wnk1,
kif1a,
retreg1
| MONDO:0019941 - hereditary sensory and autonomic neuropathy type 2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view