Terminology Service for NFDI4Health
Amino Acid Metabolism Disorder
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http://purl.obolibrary.org/obo/NCIT_C97090
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. [ ]
Term info
Label
Amino Acid Metabolism Disorder
Synonyms
- Amino Acid Metabolism Disorder
- Disorder of Amino Acid Metabolism
Subsets
NCIT_C90259, NCIT_C99147
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C34816
NICHD Hierarchy Term
Amino Acid Metabolism Disorder
Preferred Name
Amino Acid Metabolism Disorder
Semantic Type
Disease or Syndrome
UMLS CUI
C0002514
code
C97090