Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

hereditary hyperbilirubinemia

Synonyms

hereditary hyperbilirubinemia

hyperbilirubinaemia

bilirubin metabolic disorder

hyperbilirubinemia

Definitions

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.

ID

http://purl.obolibrary.org/obo/MONDO_0002408

database_cross_reference

DOID:2741

SCTID:14783006

OMIMPS:237450

UMLS:C0020435

MESH:D006933

NCIT:C84761

UMLS:C0020433

definition

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.

exactMatch

https://omim.org/phenotypicSeries/PS237450

http://linkedlifedata.com/resource/umls/id/C0020435

http://identifiers.org/mesh/D006933

http://purl.obolibrary.org/obo/DOID_2741

http://purl.obolibrary.org/obo/NCIT_C84761

has_broad_synonym

hyperbilirubinaemia

bilirubin metabolic disorder

hyperbilirubinemia

has_exact_synonym

hereditary hyperbilirubinemia

id

MONDO:0002408

in_subset

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

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

http://purl.obolibrary.org/obo/mondo#inferred_rare

label

hereditary hyperbilirubinemia

notation

MONDO:0002408

prefLabel

hereditary hyperbilirubinemia

relatedMatch

http://linkedlifedata.com/resource/umls/id/C0020433

treeView

http://purl.obolibrary.org/obo/MONDO_0017755

http://purl.obolibrary.org/obo/MONDO_0024288

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017755

http://purl.obolibrary.org/obo/MONDO_0024288

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