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Details
Link-It Detail - Disease - Ochronosis
Debug Stats
  • ### Total Build Time: 46 ms 10.450 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.238 KB
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ochronosis C0028817
Definition (1)
WHAT: Ochronosis. Ochronosis: the pathologic accumulation of a blue-black pigment in the connective tissues of persons with alkaptonuria, a rare inborn error of metabolism. These persons lack the enzyme homogentisic acid oxidase, resulting in a buildup of homogentisic acid, a precursor of the pigment. WHY: The great majority of patients with ochronosis eventually develop an arthropathy clinically resembling degenerative joint disease. HOW: Ochronosis is diagnosed by the combination of pigmentation of the cartilage, the presence of homogentisic acid in the urine, and arthritis usually involving the knees, hips, lumbosacral spine, and shoulders. The slate blue-black pigmentation is most apparent in the sclera of the eyes, the external ears, and the tympanic membranes. The cerumen may also show a dark discoloration. The presence of homogentisic acid in the urine is determined by the dark color which occurs when the urine is alkalinized and by paper chromatography. REFS: Schumacher HR and Holdsworth DE: Ochronotic arthropathy I. Clinico-pathologic Studies. Semin Arthritis Rheum 6:207, 1977. DN19296-1.
Semantic Types (1)
Pathologic Function (T046)
Parents (1)
img Pathologic Processes C0030660
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306603img Pathologic Processes C0030660
Relationships (12)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 11


Relationships:
none : 9
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO36img AKU C0002066
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_DISO23img AKU C0002066
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO10img chemically induced C0007994
DISO_to_CHEM9img Acid, Homogentisic C0019881
DISO_to_DISO9img Arthropathy C0022408
DISO_to_DISOmapped_toimg Alkaptonuric ochronosis C1444199
DISO_to_DISOmapped_toimg Hereditary ochronosis C2931645
DISO_to_DISOimg Non-specific Back Pain C0151442
DISO_to_DISOimg Non-specific Joint Pain C0151443
DISO_to_DISOpermuted_term_ofimg Ochronoses C0028817
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028817Ochronosis0self