BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 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

SNOMEDCT_US_2020_03_01:42930003

GARD:5793

UMLS_CUI:C0002514

ICD10CM:E72.9

ICD9CM:270

NCI:C97090

MESH:D000592

has exact synonym

inborn errors of amino acid metabolism

id

DOID:9252

in_subset

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

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.

引自

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

有_obo_命名空间

disease_ontology

subClassOf

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

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http://purl.obolibrary.org/obo/DOID_9252 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_9252 Human Disease Ontology / 人类疾病本体 SAME_URI