ONTOLOGY REPORT - ANNOTATIONS


Term:alkaptonuria
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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;   ORDO:56
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alkaptonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgd homogentisate 1, 2-dioxygenase JBrowse link 11 65,983,221 66,034,555 RGD:1599472
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            alkaptonuria 1
              Alkaptonuric Ochronosis 0
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              alkaptonuria 1
                Alkaptonuric Ochronosis 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.