PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Metabolism, Inborn Errors
Synonyms
Definitions

A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036639

Database_Cross_Reference

RCD:X40RY

MTH:NOCODE

SNMI:D6-00100

MDR:10062018

SNOMEDCT_US:363205007

MDR:10021605

SNM:D-1001

DO:DOID:655

NCI_NICHD:C34816

NDFRT:N0000002005

MDR:10021601

LCH_NW:sh85084017

LCH:U002925

CHV:0000008000

NCI:C34816

MSH:D008661

CSP:1849-0057

SNOMEDCT_US:86095007

Definition

A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.

label

Metabolism, Inborn Errors

MCID

MC00008121

PMOID

PMO:00036639

prefixIRI

pmo:PMO_00036639

prefLabel

Metabolism, Inborn Errors

Synonym

Metabolism Inborn Error

Metabolism, Inborn Errors [Disease/Finding]

METAB INBORN ERR

Congenital Metabolism Disorder

INBORN ERR METAB

Metabolism, Inborn errors of

Inborn Metabolism Error

Inborn Errors of Metabolism

METAB ERR INBORN

Metabolism Error, Inborn

inborn metabolism disorder

IBEM - Inborn error of metabol

Errors Metabolism, Inborn

Inborn Metabolism Errors

inborn error of metabolism

inborn errors of metabolism

inborn error metabolism

errors inborn metabolism

Inborn error of metabolism NOS

Inborn error of metabolism (disorder)

Inborn errors of metabolism

Inborn error of metabolism

Inborn Errors Metabolism

IBEM - Inborn error of metabolism

IEM - Inborn error metabolism

inborn errors metabolism

Error, Inborn Metabolism

inherited metabolic disorder

Metabolism Inborn Errors

Inborn error of metabolism, NOS

Inborn Error of Metabolism

Errors, Inborn Metabolism

Inborn Errors Metabolisms

Metabolic hereditary disorder (disorder)

Metabolic hereditary disorder

IEM - Inborn error of metabolism

Metabolism Errors, Inborn

Errors Metabolisms, Inborn

Metabolisms, Inborn Errors

Congenital Metabolic Disorder

Tree Number

T9.11.1.12

T9.8.4.14

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00038485

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