Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

hereditary sensory and autonomic neuropathy

Synonyms

hereditary sensory autonomic neuropathy

hereditary sensory neuropathy

hereditary sensory peripheral neuropathy

indifference to pain, Congenital, autosomal recessive

hereditary sensory and autonomic neuropathy

congenital pain insensitivity

congenital insensitivity to pain

CIP

HSAN

Definitions

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

ID

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

database_cross_reference

UMLS:C0027889

SCTID:11442006

OMIMPS:162400

NCIT:C125386

MESH:D009477

DOID:0050548

icd11.foundation:1091217288

Orphanet:140471

GARD:12688

ICD9:356.2

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/NCIT_C125386

http://purl.obolibrary.org/obo/Orphanet_140471

http://linkedlifedata.com/resource/umls/id/C0027889

http://identifiers.org/mesh/D009477

http://purl.obolibrary.org/obo/DOID_0050548

https://omim.org/phenotypicSeries/PS162400

http://identifiers.org/snomedct/11442006

excluded_synonym

familial dysautonomia, type II

has_exact_synonym

hereditary sensory neuropathy

hereditary sensory peripheral neuropathy

indifference to pain, Congenital, autosomal recessive

hereditary sensory and autonomic neuropathy

congenital pain insensitivity

congenital insensitivity to pain

CIP

HSAN

has_related_synonym

hereditary sensory autonomic neuropathy

IAO_0000233

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

id

MONDO:0015364

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

hereditary sensory and autonomic neuropathy

notation

MONDO:0015364

preferred label

hereditary sensory and autonomic neuropathy

prefLabel

hereditary sensory and autonomic neuropathy

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002321

http://purl.obolibrary.org/obo/MONDO_0020127

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