OBO ID: DOID:9270
Term Name: alkaptonuria Search Ontology:
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
  • NCI:C84546
  • OMIM:203500
  • ORDO:56
  • SNOMEDCT_US_2023_03_01:24250001
  • UMLS_CUI:C0002066
Ontology: Human Disease   ( DOID:9270 )
Relationships
is a type of:
OTHER alkaptonuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HGD Alkaptonuria 203500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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