Terminology Service for NFDI4Health

inherited amino acid metabolic disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0004736


An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. [ ]

Term info

Label

inherited amino acid metabolic disorder

Synonyms
  • inborn cellular amino acid metabolic process disorder
  • inborn error of amino acid metabolism
  • inborn error of cellular amino acid metabolic process
  • inborn errors of amino acid metabolism
  • rare inborn error of cellular amino acid metabolic process
database cross reference
exactMatch

http://purl.obolibrary.org/obo/DOID_9252, http://identifiers.org/mesh/D000592, http://identifiers.org/snomedct/42930003

has related synonym

amino acid metabolism, inborn errors, inborn amino acid metabolism disorder, amino acid metabolic disorder

id

MONDO:0004736