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Health_ontology
Last uploaded:
July 4, 2024
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| Preferred Name |
No preferred name provided for selected language
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| Synonyms |
inborn errors of amino acid metabolism |
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| Definitions |
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9252 |
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| alternative label |
inborn errors of amino acid metabolism
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| database_cross_reference |
ICD10CM:E72.9 SNOMEDCT_US_2023_03_01:42930003 MESH:D000592 UMLS_CUI:C0002514 GARD:5793 ICD9CM:270 NCI:C97090
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| definition |
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
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| has exact synonym |
inborn errors of amino acid metabolism
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| has_obo_namespace |
disease_ontology
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| id |
DOID:9252
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| in_subset | ||
| label |
amino acid metabolic disorder
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| notation |
DOID:9252
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| subClassOf |
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