loading...| Preferred Name |
Hyperbilirubinemia, Rotor type |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_237450 |
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| 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. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:237450 |
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| label |
Hyperbilirubinemia, Rotor type |
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| notation |
OMIM:237450 |
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| prefLabel |
Hyperbilirubinemia, Rotor type |
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| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/237450 | OMIM | LOOM | |
| http://identifiers.org/omim/237450 | REXO | LOOM | |
| http://identifiers.org/omim/237450 | GEXO | LOOM | |
| http://identifiers.org/omim/237450 | RETO | LOOM |