Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	Glycine N-methyltransferase deficiency
Synonyms	GNMT deficiency
Definitions	(GNMT deficiency) - The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases.
ID	http://identifiers.org/omim/606664
altLabel	GNMT deficiency
definition	(GNMT deficiency) - The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases.
id	OMIM:606664
notation	OMIM:606664
prefLabel	Glycine N-methyltransferase deficiency
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/606664	REXO	SAME_URI
http://identifiers.org/omim/606664	GEXO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111037	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111037	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0011698	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011698	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111037	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111037	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111037	FNS-H	LOOM
http://purl.bioontology.org/ontology/OMIM/606664	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_606664	CCO	LOOM
http://identifiers.org/omim/606664	REXO	LOOM
http://identifiers.org/omim/606664	GEXO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564683	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011698	DOVES	LOOM