Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	OROTIC ACIDURIA
Synonyms	OPRT AND ODC DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA OAWA URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY UMP SYNTHASE DEFICIENCY OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY UMPS DEFICIENCY OROTIC ACIDURIA I
ID	http://purl.bioontology.org/ontology/OMIM/258900
altLabel	OPRT AND ODC DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA OAWA URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY UMP SYNTHASE DEFICIENCY OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY UMPS DEFICIENCY OROTIC ACIDURIA I
cui	C0268130 C3278622
Gene Locus	3q13
Gene Symbol	UMPS OPRT
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU023453 http://purl.bioontology.org/ontology/OMIM/MTHU007557 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU032452 http://purl.bioontology.org/ontology/OMIM/MTHU042112 http://purl.bioontology.org/ontology/OMIM/MTHU067767 http://purl.bioontology.org/ontology/OMIM/MTHU032451 http://purl.bioontology.org/ontology/OMIM/MTHU037816 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU036916 http://purl.bioontology.org/ontology/OMIM/MTHU037815 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU008399 http://purl.bioontology.org/ontology/OMIM/MTHU026299
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	258920
notation	258900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	OROTIC ACIDURIA
Scope Statement	Caused by mutation in the uridine monophosphate synthetase gene (UMPS, 613891.0001) [MOLECULAR BASIS]
tui	T047

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/69525003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-44210	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X40Us	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/69525003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C537136	MESH	CUI
http://purl.obolibrary.org/obo/MP_0011765	MP	LOOM
http://purl.obolibrary.org/obo/DOID_0050833	DOID	LOOM
http://purl.obolibrary.org/obo/HP_0003218	HP	LOOM
http://purl.obolibrary.org/obo/HP_0003218	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0003218	OBA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/47641009	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCTV2/D014100	RCTV2	LOOM
http://purl.bioontology.org/ontology/CSP/1849-8113	CRISP	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052621	MEDDRA	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052631	MEDDRA	LOOM
http://purl.obolibrary.org/obo/DOID_0050833	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050833	DDSS	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	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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009797	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009797	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009797	EFO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200590	NANDO	LOOM