Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
Synonyms	MAT I/III DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/250850
altLabel	MAT I/III DEFICIENCY MAT DEFICIENCY HYPERMETHIONINEMIA, ISOLATED PERSISTENT
cui	C0268621
Gene Locus	10q22
Gene Symbol	MAT1A MATA1 SAMS1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU028222 http://purl.bioontology.org/ontology/OMIM/MTHU020646 http://purl.bioontology.org/ontology/OMIM/MTHU002306 http://purl.bioontology.org/ontology/OMIM/MTHU020645 http://purl.bioontology.org/ontology/OMIM/MTHU020649 http://purl.bioontology.org/ontology/OMIM/MTHU020647 http://purl.bioontology.org/ontology/OMIM/MTHU020644 http://purl.bioontology.org/ontology/OMIM/MTHU020650
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	250850
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564683	Medical Subject Headings	CUI