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loading...| Preferred Name |
HYPERBILIRUBINEMIA, ROTOR TYPE |
|
| Synonyms |
ROTOR SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/237450 |
|
| altLabel |
ROTOR SYNDROME HBLRR |
|
| cui |
C0220991 |
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| Gene Locus |
12p12.2 |
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| Gene Symbol |
HBLRR OATP1B3 SLC21A8 SLCO1B3 OATP8 |
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU032109 http://purl.bioontology.org/ontology/OMIM/MTHU032110 http://purl.bioontology.org/ontology/OMIM/MTHU032108 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
237450 |
|
| OMIM Entry Type |
3 |
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| 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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