Human Disease Ontology 123

Last uploaded: September 28, 2023
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

GARD:5793

UMLS_CUI:C0002514

ICD10CM:E72.9

ICD9CM:270

NCI:C97090

MESH:D000592

SNOMEDCT_US_2022_09_01:42930003

definition

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

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#DO_rare_slim

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

label

amino acid metabolic disorder

notation

DOID:9252

prefLabel

amino acid metabolic disorder

subClassOf

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

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