EpilepsyOntology

Last uploaded: November 8, 2021
Preferred Name

amino acid metabolic disorder
Synonyms

inborn errors of amino acid metabolism

Definitions

An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.

ID

http://purl.obolibrary.org/obo/DOID_9252

database_cross_reference

ICD9CM:270.9

SNOMEDCT_US_2018_03_01:44779003

ICD10CM:E72.9

MESH:D000592

UMLS_CUI:C0002514

SNOMEDCT_US_2018_03_01:42930003

GARD:5793

ICD9CM:270

NCI:C97090

has exact synonym

inborn errors of amino acid metabolism

has_obo_namespace

disease_ontology

id

DOID:9252

imported from

http://purl.obolibrary.org/obo/doid.owl

in subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

amino acid metabolic disorder

notation

DOID:9252

prefLabel

amino acid metabolic disorder

文本定义

An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.

subClassOf

http://purl.obolibrary.org/obo/DOID_655

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