Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Hyperbilirubinemia, Rotor type
Synonyms	HBLRR
Definitions	(HBLRR) - An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal.
ID	http://identifiers.org/omim/237450
altLabel	HBLRR
definition	(HBLRR) - An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal.
id	OMIM:237450
notation	OMIM:237450
prefLabel	Hyperbilirubinemia, Rotor type
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/237450	GEXO	SAME_URI
http://identifiers.org/omim/237450	RETO	SAME_URI
http://purl.bioontology.org/ontology/OMIM/237450	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_237450	CCO	LOOM
http://identifiers.org/omim/237450	GEXO	LOOM
http://identifiers.org/omim/237450	RETO	LOOM