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hereditary sensory and autonomic neuropathy type 2

Disease Summary
Associated Targets (15)
Tbio

9

Tclin

3

Tchem

3


GARD Rare
Mondo Description Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.
Disease Ontology Description A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.
Mondo Term and Equivalent IDs
MONDO:0019941:  hereditary sensory and autonomic neuropathy type 2
GARD:0003976: 
Orphanet:970: 
SCTID:398148000: