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Details
Link-It Detail - Disease - Retinal Drusen
Debug Stats
  • ### Total Build Time: 21 ms 16.348 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 380 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 390 bytes
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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_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 9.551 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 2.639 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (2)
Retinal Drusen C0035312
Colloid bodies in retina
Definition (1)
Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Retinal Degeneration C0035304
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Retinal Diseases C00353094img Retinal Degeneration C0035304
Relationships (22)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 17
diso_​to_​phen : 2


Relationships:
none : 11
classifies : 2
expanded_​form_​of : 1
isa : 1
mapped_​to : 7
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO79img Age related macular degeneration C0242383
DISO_to_DISO44img Age related macular degeneration C0242383
DISO_to_ANAT22img Retinal Pigment Epithelium C0035322
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_DISO17img Choroidal Neovascularization C0600518
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_ANAT12img Eye Pigment Epithelium C0031907
DISO_to_DISO12img Choroidal Neovascularization C0600518
DISO_to_ANAT10img Retina C0035298
DISO_to_DISOexpanded_form_ofimg Colloid bodies in retina C0035312
DISO_to_DISOmapped_toimg Confluent drusen C1720180
DISO_to_DISOmapped_toimg Degenerative drusen C0271088
DISO_to_DISOisaimg Drusen of macula C0677628
DISO_to_DISOmapped_toimg Drusen plus pigment change stage macular degeneration C1282148
DISO_to_DISOmapped_toimg Drusen stage macular degeneration C1280716
DISO_to_DISOmapped_toimg Hard drusen C1719777
DISO_to_DISOclassifiesimg Other retinal disorders C0339438
DISO_to_DISOmapped_toimg Peripheral drusen C0344286
DISO_to_DISOclassifiesimg Retinal detachments; defects; vascular occlusion; and retinopathy C0809995
DISO_to_DISOmapped_toimg Soft drusen C1720452
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanCFH3075complement factor H
img GENERIF, Score=901, Pubmed Id: 18936151, UMLKSK CUI: C0035312
HumanEFEMP12202EGF containing fibulin-like extracellular matrix protein 1
img GENERIF, Score=734, Pubmed Id: 12242346, UMLKSK CUI: C0035312
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035312Retinal Drusen0self