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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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Preferred Name | Orotic aciduria 1 | |
Synonyms |
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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://purl.obolibrary.org/obo/OMIM_258900 |
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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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has_obo_namespace |
cell_cycle_ontology
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id |
OMIM:258900
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label |
Orotic aciduria 1
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notation |
OMIM:258900
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prefLabel |
Orotic aciduria 1
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treeView | ||
subClassOf |
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Mapping To | Ontology | Source |
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537136 | RH-MESH | LOOM |
http://purl.bioontology.org/ontology/MESH/C537136 | MESH | LOOM |
http://identifiers.org/omim/258900 | REXO | LOOM |
http://identifiers.org/omim/258900 | GEXO | LOOM |
http://identifiers.org/omim/258900 | RETO | LOOM |