Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/C564683 http://purl.bioontology.org/ontology/MESH/C564683
Preferred Name	Hypermethioninemia
Synonyms	GNMT Deficiency S-Adenosylhomocysteine Hydrolase Deficiency Methioninemia Deficiency of Methionine Adenosyltransferase Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase Hypermethioninemia, Isolated Persistent Hepatic Methionine Adenosyltransferase Deficiency Methionine Adenosyltransferase Deficiency Glycine N-Methyltransferase Deficiency
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GNMT Deficiency S-Adenosylhomocysteine Hydrolase Deficiency Methioninemia Deficiency of Methionine Adenosyltransferase Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase Hypermethioninemia, Isolated Persistent Hepatic Methionine Adenosyltransferase Deficiency Methionine Adenosyltransferase Deficiency Glycine N-Methyltransferase Deficiency See more See less
prefLabel	Hypermethioninemia
TH	OMIM (2013) ORD (2014) OMIM (2014) GHR (2014)
notation	C564683
MMR	20150818
MeSH Frequency	46
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
HM	D000592 D050938/Q000172
Inverse of RB	0
Scope Statement	mutation in GNMT, MAT1A, AHCY
MDA	20121105
SC	3
type	http://www.w3.org/2002/07/owl#Class
Mapped to	http://purl.bioontology.org/ontology/MESH/D000592 http://purl.bioontology.org/ontology/MESH/D050938
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
tui	T047
cui	C4048705 C0268621 C3151058 C1847720
TERMUI	T801267 T841700 T826328 T841699 T841702 T832717 T805393 T801266 T841701 T841703 See more See less

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