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Health and Social Person-centric Ontology
Last uploaded:
June 9, 2023
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| Preferred Name |
No preferred name provided for selected language
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| Synonyms |
inborn amino acid metabolism disorder amino acid metabolism, inborn errors amino acid metabolic disorder inborn error of cellular amino acid metabolic process rare inborn error of cellular amino acid metabolic process inherited amino acid metabolic disorder inborn error of amino acid metabolism inborn errors of amino acid metabolism inborn cellular amino acid metabolic process disorder |
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| Definitions |
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0004736 |
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| database_cross_reference |
SCTID:44779003 ICD9:270.9 ICD9:270 SCTID:42930003 DOID:9252 MESH:D000592
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| definition |
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
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| exactMatch |
http://identifiers.org/snomedct/42930003 |
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| has_exact_synonym |
inborn error of cellular amino acid metabolic process rare inborn error of cellular amino acid metabolic process inherited amino acid metabolic disorder inborn error of amino acid metabolism inborn errors of amino acid metabolism inborn cellular amino acid metabolic process disorder
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| has_related_synonym |
inborn amino acid metabolism disorder amino acid metabolism, inborn errors amino acid metabolic disorder
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| id |
MONDO:0004736
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| in_subset | ||
| label |
inborn disorder of amino acid metabolism
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| notation |
MONDO:0004736
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| subClassOf |
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