Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Fumarase deficiency
Synonyms	FHD
Definitions	(FHD) - Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
ID	http://identifiers.org/omim/606812
altLabel	FHD
definition	(FHD) - Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
id	OMIM:606812
notation	OMIM:606812
prefLabel	Fumarase deficiency
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/606812	GEXO	SAME_URI
http://identifiers.org/omim/606812	RETO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111261	DOID	LOOM
rgo:27820	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0111261	DDSS	LOOM
http://nanbyodata.jp/ontology/NANDO_2200520	NANDO	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
http://purl.bioontology.org/ontology/MEDDRA/10088204	MEDDRA	LOOM