FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term alkaptonuria ID (Ontology) DOID:9270 (Human Disease)
Definition An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Also Known As "alcaptonuria" ; "Homogentisate 1,2-dioxygenase deficiency"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes
 alkaptonuria       1      1
 for disease ribbon | alkaptonuria       --       1
 model of | alkaptonuria       1      1
Spanning Tree (Parents/Children)
Only view relationship: 
  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__alkaptonuria  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a amino acid metabolic disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "alcaptonuria" EXACT
    "deficiency of homogentisicase" RELATED
    "Homogentisate 1,2-dioxygenase deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:5775
ICD10CM:E70.29
MESH:D000474
MIM:203500
NCI:C84546
ORDO:56
SNOMEDCT_US_2023_03_01:24250001
UMLS_CUI:C0002066