Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:alkaptonuria
go back to main search page
Accession:DOID:9270 term browser browse the term
Definition:An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Synonyms:exact_synonym: AKU;   Alcaptonuria;   Alcaptonurias;   Homogentisate 1,2-dioxygenase deficiency;   Homogentisic Acid Oxidase Deficiency;   Homogentisic Acidura
 related_synonym: deficiency of homogentisicase
 primary_id: MESH:D000474;   RDO:0000028
 alt_id: OMIM:203500
 xref: GARD:5775;   NCI:C84546;   ORDO:56
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          amino acid metabolic disorder 448
            alkaptonuria 1
              Alkaptonuric Ochronosis 0
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            amino acid metabolic disorder 448
              alkaptonuria 1
                Alkaptonuric Ochronosis 0
paths to the root