JSON

hereditary sensory and autonomic neuropathy

^ http://purl.obolibrary.org/obo/MONDO_0015364

An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. [ MONDO:patterns/hereditary ]

Term info

database cross reference
  • NCIT:C125386 (MONDO:equivalentTo)
  • Orphanet:140471 (MONDO:equivalentTo)
  • DOID:0050548 (MONDO:equivalentTo)
  • UMLS:C0027889 (Orphanet:140471/e)
  • ICD9:356.2 (MONDO:i2s)
  • OMIMPS:162400 (MONDO:equivalentTo)
  • SCTID:11442006 (MONDO:equivalentTo)
  • MESH:D009477 (Orphanet:140471/e)
  • GARD:0012688 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CIP [ NCIT:C125386 ]

abbreviation
HSAN [ MONDO:cjm ]

IAO 0000233

https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25

definition

An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050548, http://purl.obolibrary.org/obo/Orphanet_140471, http://linkedlifedata.com/resource/umls/id/C0027889, http://identifiers.org/mesh/D009477, http://purl.obolibrary.org/obo/NCIT_C125386, https://omim.org/phenotypicSeries/PS162400, http://identifiers.org/snomedct/11442006

excluded synonym

familial dysautonomia, type II

has exact synonym

congenital pain insensitivity, indifference to pain, Congenital, autosomal recessive, hereditary sensory peripheral neuropathy, HSAN, congenital insensitivity to pain, CIP, hereditary sensory neuropathy, hereditary sensory and autonomic neuropathy

has related synonym

hereditary sensory autonomic neuropathy

id

MONDO:0015364