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Details
Link-It Detail - Disease - Alkaptonuria
Debug Stats
  • ### Total Build Time: 73 ms 21.253 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 447 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 572 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.870 KB
  • CONCEPT_RELATIONSHIPS gt=46 ms Completed: 46 ms rowSize= 12.721 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 2.987 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Alkaptonuria C0002066
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Amino Acid Metabolism, Inborn Errors C0002514
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
Relationships (35)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 31
diso_​to_​phen : 2


Relationships:
none : 7
alias_​of : 1
associated_​with : 2
manifestation_​of : 25
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO49img Complication Aspects C1171258
DISO_to_DISO36img Ochronoses C0028817
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_DISO23img Ochronoses C0028817
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM11img Homogentisate 1,2-Dioxygenase C0062939
DISO_to_CHEMassociated_withimg Homogentisate 1,2-Dioxygenase C0062939
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOalias_ofimg AKU C0002066
DISO_to_DISOmanifestation_ofimg Aortic dilatation C0265004
DISO_to_DISOmanifestation_ofimg Aortic valve calcification C0428791
DISO_to_DISOmanifestation_ofimg Arthritis, ochronotic C0268493
DISO_to_DISOmanifestation_ofimg Back Pain C0004604
DISO_to_DISOmanifestation_ofimg Calcification of coronary artery C1611184
DISO_to_DISOmanifestation_ofimg Caused by mutation in the homogentisate 1,2-dioxygenase gene (HGD, 607474.0001) C1859890
DISO_to_DISOmanifestation_ofimg Chronic joint pain C1859884
DISO_to_DISOmanifestation_ofimg Decreased liver homogentisate 1,2-dioxygenase activity C1859889
DISO_to_DISOmanifestation_ofimg Decreased lumbar flexion C1859886
DISO_to_DISOmanifestation_ofimg Degenerated intervertebral disc C0158266
DISO_to_DISOmanifestation_ofimg Fusion of vertebral bodies C1859885
DISO_to_DISOmanifestation_ofimg Height loss secondary to spinal changes C1859880
DISO_to_DISOmanifestation_ofimg Increased plasma homogentisic acid (HGA) C1859887
DISO_to_DISOmanifestation_ofimg Increased urinary HGA C1859888
DISO_to_DISOmanifestation_ofimg Joint symptoms begin in third or fourth decade C1859892
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanHGD3081homogentisate 1,2-dioxygenase
img GENERIF, Score=1000, Pubmed Id: 16085442, UMLKSK CUI: C0002066
img GENERIF, Score=1000, Pubmed Id: 18945288, UMLKSK CUI: C0002066
img GENERIF, Score=660, Pubmed Id: 12872836, UMLKSK CUI: C0002066
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002066Alkaptonuria0self