Search Ontology:
Human Disease

alkaptonuria

Term ID
DOID:9270
Synonyms
  • alcaptonuria
  • deficiency of homogentisicase
  • Homogentisate 1,2-dioxygenase deficiency
Definition
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. http://en.wikipedia.org/wiki/Alkaptonuria
References
  • GARD:5775
  • ICD10CM:E70.29
  • MESH:D000474
  • MIM:203500
  • NCI:C84546
  • ORDO:56
  • SNOMEDCT_US_2023_03_01:24250001
  • UMLS_CUI:C0002066
Ontology
Human Disease   ( DOID:9270 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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