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inborn disorder of amino acid metabolism

^ 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. [ NCIT:P378 ]

Term info

database cross reference
  • SCTID:42930003 (MONDO:equivalentTo)
  • MESH:D000592 (MONDO:equivalentTo)
  • DOID:9252 (MONDO:equivalentTo)
  • GARD:0006770 (MONDO:shared-umls-xref)
  • SCTID:44779003 (MONDO:relatedTo)
  • ICD9:270.9 (DOID:9252)
  • ICD9:270 (DOID:9252)
definition

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

exactMatch

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

has exact synonym

inherited amino acid metabolic disorder, inborn errors of amino acid metabolism, inborn cellular amino acid metabolic process disorder, inborn error of cellular amino acid metabolic process, inborn error of amino acid metabolism, rare inborn error of cellular amino acid metabolic process

has related synonym

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

id

MONDO:0004736

Term relations