PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Hyperlysinemias

Synonyms
Definitions

An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

ID

http://www.phoc.org.cn/pmo/class/PMO_00038499

Database_Cross_Reference

NCI:C123433

MTH:NOCODE

OMIM:MTHU047634

RCDAE:C3074

SNM:D-1710

SNMI:D6-A6110

MSH:D020167

SNOMEDCT_US:58558003

DO:DOID:9274

NDFRT:N0000004016

CHV:0000026327

HPO:HP:0002161

CSP:1849-0342

RCD:C3074

MTHICD9:270.7

ICD10CM:E72.3

MEDCIN:33612

Definition

An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

label

Hyperlysinemias

MCID

MC00092834

PMOID

PMO:00038499

prefixIRI

pmo:PMO_00038499

prefLabel

Hyperlysinemias

Synonym

Lysine:Alpha-Ketoglutarate Reductase Deficiency

Hyperlysinemia, Familial

Reductase Deficiencies, Lysine:Alpha-Ketoglutarate

Lysine:Alpha Ketoglutarate Reductase Deficiency

Lysine:Alpha-Ketoglutarate Reductase Deficiencies

Familial Hyperlysinemia

Deficiency, Lysine:Alpha-Ketoglutarate Reductase

Elevated blood lysine

hyperlysinemia (diagnosis)

Familial Hyperlysinemias

Deficiencies, L-Lysine:NAD-Oxido-Reductase

L-Lysine:NAD-Oxido-Reductase Deficiencies

Hyperlysinemia

Hyperlysinemia, NOS

Reductase Deficiency, Lysine:Alpha-Ketoglutarate

L-Lysine:NAD-Oxido-Reductase Deficiency

L Lysine:NAD Oxido Reductase Deficiency

Deficiency, L-Lysine:NAD-Oxido-Reductase

Deficiencies, Lysine:Alpha-Ketoglutarate Reductase

Hyperlysinemia (disorder)

hyperlysinemia

Hyperlysinemias, Familial

Hyperlysinemias [Disease/Finding]

hyperlysinemias

Hyperlysinaemia, NOS

Hyperlysinaemia

Tree Number

T9.11.1.6.2.14

T9.8.4.14.6.5

T9.8.4.14.8.14

T9.11.1.12.6.5

T9.21.15.5.17.2.14

T9.11.1.12.8.14

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00003781

http://www.phoc.org.cn/pmo/class/PMO_00038495

http://www.phoc.org.cn/pmo/class/PMO_00036640

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