Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

HYPERBILIRUBINEMIA, ROTOR TYPE

Synonyms

ROTOR SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/237450

altLabel

ROTOR SYNDROME

HBLRR

cui

C0220991

Gene Locus

12p12.2

Gene Symbol

HBLRR

OATP1B3

SLC21A8

SLCO1B3

OATP8

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU032109

http://purl.bioontology.org/ontology/OMIM/MTHU032110

http://purl.bioontology.org/ontology/OMIM/MTHU032108

http://purl.bioontology.org/ontology/OMIM/MTHU032111

http://purl.bioontology.org/ontology/OMIM/MTHU002997

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

237450

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPERBILIRUBINEMIA, ROTOR TYPE

Scope Statement

Onset in infancy or childhood [MISCELLANEOUS]

Caused by simultaneous homozygous mutation in both the solute carrier organic anion transporter family, member 1B1 gene (SLCO1B1, 604843.0001) and the solute carrier organic anion transporter family, member 1B3 gene (SLCO1B3, 605495.0001) [MOLECULAR BASIS]

tui

T047

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