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hereditary sensory and autonomic neuropathy type 2

^ http://purl.obolibrary.org/obo/MONDO_0019941

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. [ Orphanet:970 ]

Term info

database cross reference
  • DOID:0070161 (MONDO:equivalentTo)
  • SCTID:398148000 (MONDO:equivalentTo)
  • Orphanet:970 (MONDO:equivalentTo)
  • GARD:3976 (DOID:0070161)
  • GARD:0003976 (MONDO:equivalentTo)
  • PMID:21089229 (DOID:0070161)
Subsets

ordo_disease

abbreviation
HSAN2 [ DOID:0070161 Orphanet:970 ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_970, http://identifiers.org/snomedct/398148000, http://purl.obolibrary.org/obo/DOID_0070161

has exact synonym

hereditary sensory and autonomic neuropathy type II, neurogenic acroosteolysis, HSAN2, autosomal recessive sensory radicular neuropathy

has related synonym

hereditary sensory neuropathy type 2, Giaccai type acroosteolysis, hereditary sensory radicular neuropathy, recessive form

id

MONDO:0019941

Term relations