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Gene Expression Ontology
Last uploaded:
December 16, 2015
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| Preferred Name | Orotic aciduria 1 | |
| Synonyms |
ORAC1 |
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| Definitions |
(ORAC1) - A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. |
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| ID |
http://identifiers.org/omim/258900 |
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| altLabel |
ORAC1
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|
| definition |
(ORAC1) - A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.
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| id |
OMIM:258900
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| notation |
OMIM:258900
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| prefLabel |
Orotic aciduria 1
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://identifiers.org/omim/258900 | REXO | SAME_URI |
| http://identifiers.org/omim/258900 | RETO | SAME_URI |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537136 | RH-MESH | LOOM |
| http://purl.obolibrary.org/obo/OMIM_258900 | CCO | LOOM |
| http://purl.bioontology.org/ontology/MESH/C537136 | MESH | LOOM |
| http://identifiers.org/omim/258900 | REXO | LOOM |
| http://identifiers.org/omim/258900 | RETO | LOOM |