Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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

ICD10CM:E72.9

SNOMEDCT_US_2023_03_01:42930003

MESH:D000592

UMLS_CUI:C0002514

GARD:5793

ICD9CM:270

NCI:C97090

has exact synonym

inborn errors of amino acid metabolism

has_obo_namespace

disease_ontology

id

DOID:9252

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

amino acid metabolic disorder

notation

DOID:9252

prefLabel

amino acid metabolic disorder

textual definition

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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