Preferred Name

orotic aciduria

Synonyms

orotate phosphoribosyltransferase deficiency

Definitions

excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.

ID

http://purl.bioontology.org/ontology/CSP/1849-8113

altLabel

orotate phosphoribosyltransferase deficiency

cui

C0268128

definition

excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.

DID

1849-8113

Inverse of RB

http://purl.bioontology.org/ontology/CSP/1840-2225

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/2503-4417

http://purl.bioontology.org/ontology/CSP/0427-2735

notation

1849-8113

prefLabel

orotic aciduria

tui

T033

subClassOf

http://purl.bioontology.org/ontology/CSP/1840-2225

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/2503-4417

http://purl.bioontology.org/ontology/CSP/0427-2735

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU023453 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10052621 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/47641009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-44100 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10052631 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124277009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10052621 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10052631 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/47641009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10052631 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/124277009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10052621 MDRGER CUI
http://purl.obolibrary.org/obo/HP_0003218 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0009797 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009797 EFO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU023453 OMIM LOOM
http://purl.obolibrary.org/obo/HP_0003218 HP LOOM
http://purl.obolibrary.org/obo/HP_0003218 UPHENO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/47641009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/D014100 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052621 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/258900 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052631 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_0050833 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050833 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050833 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050833 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003908 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MP_0011765 MP LOOM
http://purl.obolibrary.org/obo/MP_0011765 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011765 CHIRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268128 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0009797 DOVES LOOM
http://nanbyodata.jp/ontology/NANDO_2200590 NANDO LOOM