Systematized Nomenclature of Medicine, International Version

Last uploaded: August 28, 2024

Preferred Name	Hereditary orotic aciduria, type 1
Synonyms	UMP synthase deficiency Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency OPRT and OMP decarboxylase deficiency
ID	http://purl.bioontology.org/ontology/SNMI/D6-44210
altLabel	UMP synthase deficiency Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency OPRT and OMP decarboxylase deficiency
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-6C1B0 http://purl.bioontology.org/ontology/SNMI/F-68BC0
cui	C0268130
notation	D6-44210
prefLabel	Hereditary orotic aciduria, type 1
SIC	281.4
SMX	(M-27000) (F-68BC0) (F-6C1B0)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-44000

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/613891	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/69525003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/258900	OMIM	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.bioontology.org/ontology/SNOMEDCT/69525003	SNOMEDCT	LOOM