Human Disease Ontology

Last uploaded: November 1, 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
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#NCIthesaurus http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	amino acid metabolic disorder
notation	DOID:9252
prefLabel	amino acid metabolic disorder
subClassOf	http://purl.obolibrary.org/obo/DOID_655

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_9252	CLO	SAME_URI
http://purl.obolibrary.org/obo/DOID_9252	DTO	SAME_URI
http://purl.obolibrary.org/obo/DOID_9252	BAO	SAME_URI
http://purl.obolibrary.org/obo/DOID_9252	EPIO	SAME_URI
http://purl.obolibrary.org/obo/DOID_9252	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_9252	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_9252	FNS-H	SAME_URI
http://purl.bioontology.org/ontology/ICPC2P/T99005	ICPC2P	LOOM
http://purl.obolibrary.org/obo/DOID_9252	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_9252	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_9252	EPIO	LOOM
http://purl.obolibrary.org/obo/DOID_9252	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_9252	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_9252	FNS-H	LOOM