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BioAssay Ontology
Last uploaded:
January 17, 2025
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Id | http://purl.obolibrary.org/obo/DOID_9252
http://purl.obolibrary.org/obo/DOID_9252
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Preferred Name | amino acid metabolic disorder |
Definitions |
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
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Synonyms |
inborn errors of amino acid metabolism
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
label |
amino acid metabolic disorder
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prefLabel |
amino acid metabolic disorder
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has cross-reference |
SNOMEDCT_US_2020_03_01:42930003
ICD10CM:E72.9
MESH:D000592
UMLS_CUI:C0002514
GARD:5793
ICD9CM:270
NCI:C97090
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notation |
DOID:9252
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in_subset | |
id |
DOID:9252
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has_obo_namespace |
disease_ontology
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textual definition |
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
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subClassOf | |
imported from | |
type | |
has exact synonym |
inborn errors of amino acid metabolism
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