Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: August 28, 2024

Preferred Name	Uridine monophosphate synthase deficiency
Synonyms	Hereditary orotic aciduria type 1 Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency UMPS - Uridine monophosphate synthase deficiency
ID	http://purl.bioontology.org/ontology/RCD/X40Us
altLabel	Hereditary orotic aciduria type 1 Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency UMPS - Uridine monophosphate synthase deficiency
cui	C0268130
notation	X40Us
prefLabel	Uridine monophosphate synthase deficiency
RID	Y41qY Y41qW Y41qX Y41qZ
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/X40UV

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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/SNMI/D6-44210	SNMI	CUI
http://purl.bioontology.org/ontology/OMIM/258900	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/69525003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C537136	MESH	CUI