PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Hypermethioninemia

Synonyms
Definitions

An increased concentration of methionine in the blood.

ID

http://www.phoc.org.cn/pmo/class/PMO_00003787

Database_Cross_Reference

NCI:C123435

OMIM:MTHU008949

RCDAE:XE11A

MDR:10051245

MTH:NOCODE

MSH:C564683

SNOMEDCT_US:57835009

SNM:D-1633

MTHICD9:270.4

MEDCIN:273554

OMIM:MTHU003943

SNOMEDCT_US:124283007

CHV:0000026337

HPO:HP:0003235

SNOMEDCT_US:190708000

DO:DOID:0050544

SNMI:D6-B4300

MDR:10054414

LNC:LA12512-2

RCD:XE11A

OMIM:250850

SNOMEDCT_US:267420003

ICD10CM:E72.19

SNMI:D6-B4310

SNOMEDCT_US:43123004

Definition

An increased concentration of methionine in the blood.

label

Hypermethioninemia

MCID

MC00092878

PMOID

PMO:00003787

prefixIRI

pmo:PMO_00003787

prefLabel

Hypermethioninemia

Synonym

Increased methionine in blood

MAT deficiency

Hepatic methionine adenosyltransferase deficiency

Methioninaemia

Isolated Persistent Hypermethioninemia

Deficiency of Methionine Adenosyltransferase

Hepatic methionine adenosyltransferase deficiency (disorder)

Hypermethioninemia

Methioninemia

Hypermethioninemia (disorder)

Hypermethioninemia, NOS

MET

Hypermethioninaemia

Hep methion adenosyltransf def

hypermethioninemia (diagnosis)

Hepatic methionine adenosyltransferase deficiency [Ambiguous]

MAT I/III DEFICIENCY

Deficiency of methionine adenosyltransferase (disorder)

HYPERMETHIONINEMIA, ISOLATED PERSISTENT

METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Tree Number

T3.13.16.1.1.3.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00003785

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