loading...| Preferred Name |
DUBIN-JOHNSON SYNDROME |
|
| Synonyms |
HYPERBILIRUBINEMIA II |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/237500 |
|
| altLabel |
HYPERBILIRUBINEMIA II DJS HBLRDJ HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE |
|
| cui |
C0022350 |
|
| Gene Locus |
10q24 |
|
| Gene Symbol |
ABCC2 CMOAT |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012314 http://purl.bioontology.org/ontology/OMIM/MTHU012318 http://purl.bioontology.org/ontology/OMIM/MTHU012317 http://purl.bioontology.org/ontology/OMIM/MTHU012315 http://purl.bioontology.org/ontology/OMIM/MTHU001311 http://purl.bioontology.org/ontology/OMIM/MTHU009469 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU012312 http://purl.bioontology.org/ontology/OMIM/MTHU012311 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
237500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DUBIN-JOHNSON SYNDROME |
|
| Scope Statement |
Icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness [MISCELLANEOUS] Caused by mutations in the canalicular multispecific organic anion transporter gene (ABCC2, 601107.0001) [MOLECULAR BASIS] Increased frequency in Persian Jews (1:1,300) [MISCELLANEOUS] Most patients are asymptomatic [MISCELLANEOUS] |
|
| tui |
T047 |