Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Hypermethioninemia
Synonyms

GNMT Deficiency
ID

http://purl.bioontology.org/ontology/MESH/C564683
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
cui

C4048705

C0268621

C3151058

C1847720
Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000172
HM

D000592

D050938/Q000172
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D000592

http://purl.bioontology.org/ontology/MESH/D050938
MDA

20121105
MeSH Frequency

46
MMR

20150818
notation

C564683
prefLabel

Hypermethioninemia
SC

3
Scope Statement

mutation in GNMT, MAT1A, AHCY
TERMUI

T801267

T841700

T826328

T841699

T841702

T832717

T805393

T801266

T841701

T841703
TH

OMIM (2013)

ORD (2014)

OMIM (2014)

GHR (2014)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10054414 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4300 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/724040000 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/606628 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10051245 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU008949 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10051245 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10054414 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10054414 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10051245 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA12512-2 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/43123004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU003943 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.19 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/43123004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4310 SNMI CUI
http://purl.bioontology.org/ontology/RCD/XE11A RCD CUI
http://purl.bioontology.org/ontology/OMIM/250850 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/57835009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57835009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/124283007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124283007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/180960 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/724040000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/613752 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/763720007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/763720007 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/606664 OMIM CUI
http://purl.obolibrary.org/obo/HP_0003235 OBA LOOM
http://purl.obolibrary.org/obo/HP_0003235 MAXO LOOM
http://purl.obolibrary.org/obo/DOID_0050544 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200475 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003787 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0003235 HP LOOM
http://purl.obolibrary.org/obo/HP_0003235 UPHENO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10054414 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268621 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LA12512-2 LOINC LOOM
http://purl.obolibrary.org/obo/DOID_0050544 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050544 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050544 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050544 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050544 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/43123004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003943 OMIM LOOM