Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/614156 http://purl.bioontology.org/ontology/OMIM/614156
Preferred Name	HYPERBILIVERDINEMIA
Synonyms	GREEN JAUNDICE HBLVD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GREEN JAUNDICE HBLVD
prefLabel	HYPERBILIVERDINEMIA
Gene Symbol	BLVRA
notation	614156
Scope Statement	Both heterozygous and homozygous mutations have been reported [MISCELLANEOUS] Caused by mutation in the biliverdin reductase A gene (BLVRA, 109750.0001) [MOLECULAR BASIS] Green color resolves if cholestasis is treated [MISCELLANEOUS] Three patients have been reported (as of August 2011) [MISCELLANEOUS] Green jaundice occurs only in the context of liver failure or obstructive cholestasis [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU035213 http://purl.bioontology.org/ontology/OMIM/MTHU009745 http://purl.bioontology.org/ontology/OMIM/MTHU035214 http://purl.bioontology.org/ontology/OMIM/MTHU035215 http://purl.bioontology.org/ontology/OMIM/MTHU035216 http://purl.bioontology.org/ontology/OMIM/MTHU001311 http://purl.bioontology.org/ontology/OMIM/MTHU035212 http://purl.bioontology.org/ontology/OMIM/MTHU013529 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	7p13
tui	T047
cui	C3279964

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