Medical Dictionary for Regulatory Activities Terminology (MedDRA)

Last uploaded: January 31, 2024

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Preferred Name	Fumarase deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/MEDDRA/10088204
cui	C0342770
Member of	http://purl.bioontology.org/ontology/MEDDRA/20000077
MPS	10010331
notation	10088204
prefLabel	Fumarase deficiency
SMQ TERM LEVEL	4
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MEDDRA/10021606 http://purl.bioontology.org/ontology/MEDDRA/10014632

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10088204	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/237983002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/124616002	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/136850	OMIM	CUI
http://purl.bioontology.org/ontology/MESH/C538191	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/606812	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124616002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40Tz	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237983002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10088204	MDRFRE	CUI
http://purl.obolibrary.org/obo/DOID_0111261	DOID	LOOM
rgo:27820	GAMUTS	LOOM
http://nanbyodata.jp/ontology/NANDO_2200520	NANDO	LOOM
http://identifiers.org/omim/606812	REXO	LOOM
http://identifiers.org/omim/606812	GEXO	LOOM
http://identifiers.org/omim/606812	RETO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fumarase_Deficiency	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fumarase_Deficiency	MEPO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fumarase_Deficiency	EPISEM	LOOM
http://purl.obolibrary.org/obo/DOID_0111261	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111261	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111261	FNS-H	LOOM
http://purl.bioontology.org/ontology/OMIM/606812	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_606812	CCO	LOOM
http://purl.bioontology.org/ontology/RCD/X40Tz	RCD	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/237983002	SNOMEDCT	LOOM