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Details
Link-It Detail - Disease - Bull's eye macular dystrophy
Debug Stats
  • ### Total Build Time: 10 ms 8.676 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=6 ms Completed: 6 ms rowSize= 5.600 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.498 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Bull's eye macular dystrophy C0339512
Relationships (12)

Relation Types:
diso_​to_​diso : 12


Relationships:
expanded_​form_​of : 1
manifestation_​of : 11
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Bilateral macular retinal pigment epithelial atrophy C1842625
DISO_to_DISOmanifestation_ofimg Bilateral macular retinal pigment epithelial mottling C1842624
DISO_to_DISOmanifestation_ofimg Bilateral red-speckled retinal pigment epithelium C1842626
DISO_to_DISOexpanded_form_ofimg Bull's eye macular dystrophy C0339512
DISO_to_DISOmanifestation_ofimg Caused by mutation in the prominin 1 gene (PROM1, 604365.0003) C2750723
DISO_to_DISOmanifestation_ofimg Central Scotoma C0152191
DISO_to_DISOmanifestation_ofimg Dyschromatopsia C0858618
DISO_to_DISOmanifestation_ofimg Electro-oculogram (EOG), flash electroretinogram (ERG) and pattern ERG (PERG) initially normal C1842629
DISO_to_DISOmanifestation_ofimg Gradual progressive loss of central visual acuity C1842628
DISO_to_DISOmanifestation_ofimg Greatly reduced light-adapted scotopic and photopic ERG by 7th decade C1842630
DISO_to_DISOmanifestation_ofimg Ring of moderately increased perifoveal autofluorescence C1842627
DISO_to_DISOmanifestation_ofimg Unrecordable PERG by 7th decade C1842631
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPROM18842prominin 1
img GENERIF, Score=933, Pubmed Id: 12657606, UMLKSK CUI: C0339512
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0339512Bull's eye macular dystrophy0self