JSON

hereditary sensory and autonomic neuropathy type 1

^ http://purl.obolibrary.org/obo/MONDO_0018213

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. [ Orphanet:36386 ]

Term info

database cross reference
  • SCTID:397734008 (MONDO:equivalentTo)
  • DOID:0070162 (MONDO:equivalentTo)
  • GARD:0006635 (MONDO:equivalentTo)
  • Orphanet:36386 (MONDO:equivalentTo)
  • GARD:6635 (DOID:0070162)
  • PMID:18348718 (DOID:0070162)
Subsets

ordo_disease

abbreviation
HSAN1 [ Orphanet:36386 DOID:0070162 ]

abbreviation
HSN1 [ GARD:0006635 ]

definition

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

exactMatch

http://purl.obolibrary.org/obo/DOID_0070162, http://purl.obolibrary.org/obo/Orphanet_36386, http://identifiers.org/snomedct/397734008

has exact synonym

hereditary sensory and autonomic neuropathy type I, HSAN1

has related synonym

HSAN 1, neuropathy hereditary sensory and autonomic type 1, neuropathy hereditary sensory radicular, autosomal dominant, hereditary sensory neuropathy type 1, HSN1

id

MONDO:0018213