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Details
Link-It Detail - Disease - Albipunctate retinal dystrophy
Debug Stats
  • ### Total Build Time: 99 ms 13.751 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 358 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=1 ms Completed: 1 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=66 ms Completed: 66 ms rowSize= 5.483 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 6.684 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Albipunctate retinal dystrophy C0311338
Relationships (12)

Relation Types:
diso_​to_​diso : 12


Relationships:
classifies : 2
mapped_​to : 9
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmapped_toimg Albipunctate retinal dystrophy C0311338
DISO_to_DISOmapped_toimg Autosomal dominant retinitis pigmentosa C0339525
DISO_to_DISOmapped_toimg Autosomal recessive retinitis pigmentosa C0339526
DISO_to_DISOclassifiesimg Other retinal disorders C0339438
DISO_to_DISOclassifiesimg Retinal detachments; defects; vascular occlusion; and retinopathy C0809995
DISO_to_DISOmapped_toimg Retinitis Pigmentosa C0035334
DISO_to_DISOrelated_toimg Retinitis punctata albescens (disorder) C1405854
DISO_to_DISOmapped_toimg Tapetoretinal dystrophy C0339523
DISO_to_DISOmapped_toimg Usher Syndrome, Type I C1568247
DISO_to_DISOmapped_toimg Usher syndrome type 2 C0339534
DISO_to_DISOmapped_toimg X-linked retinitis pigmentosa C0339528
DISO_to_DISOmapped_toimg X-linked retinitis pigmentosa heterozygote C0339529
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanRLBP16017retinaldehyde binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0311338
HumanRDH55959retinol dehydrogenase 5 (11-cis/9-cis)
img GAD, Score=1000, Pubmed Id: 11675386, UMLKSK CUI: C0311338
img GENERIF, Score=1000, Pubmed Id: 12860821, UMLKSK CUI: C0311338
img GENERIF, Score=1000, Pubmed Id: 18363170, UMLKSK CUI: C0311338
img GENERIF, Score=1000, Pubmed Id: 15007239, UMLKSK CUI: C0311338
img GENERIF, Score=1000, Pubmed Id: 15302662, UMLKSK CUI: C0311338
img GENERIF, Score=1000, Pubmed Id: 16637847, UMLKSK CUI: C0311338
img GENERIF, Score=1000, Pubmed Id: 12788147, UMLKSK CUI: C0311338
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0311338Albipunctate retinal dystrophy0self