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Details
Link-It Detail - Disease - Retinal Dysplasia
Debug Stats
  • ### Total Build Time: 21 ms 18.564 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 380 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 378 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.329 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (2)
Retinal Dysplasia C0035313
Dysplasia, Retinal
Definition (1)
Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (3)
img Eye Abnormalities C0015393
img Retinal Diseases C0035309
img Eye Diseases, Hereditary C0015398
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Eye Abnormalities C0015393
img Eye Diseases C0015397img Eye Abnormalities C00153933img Eye Abnormalities C0015393
img Eye Diseases C0015397img Retinal Diseases C00353093img Retinal Diseases C0035309
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Eye Diseases, Hereditary C0015398
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153983img Eye Diseases, Hereditary C0015398
Relationships (15)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 1
diso_​to_​diso : 10
diso_​to_​phen : 2


Relationships:
none : 9
isa : 4
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_ANAT7img Retina C0035298
DISO_to_DISO6img MICROCEPHALY C0025958
DISO_to_DISO5img Abnormalities, Multiple C0000772
DISO_to_DISO5img CANINE DIS C0012979
DISO_to_ANAT4img Retina C0035298
DISO_to_CHEM4img Eye Proteins C0015416
DISO_to_DISO4img Blind Vision C0456909
DISO_to_DISOisaimg Diffuse retinal dysplasia C0521568
DISO_to_DISOpermuted_term_ofimg Dysplasia, Retinal C0035313
DISO_to_DISOisaimg Geographic retinal dysplasia C0521567
DISO_to_DISOmapped_toimg Lymphedema, microcephaly and chorioretinopathy syndrome C1835265
DISO_to_DISOisaimg Multifocal retinal dysplasia C0521566
DISO_to_DISOisaimg Vitreoretinal dysplasia C3266134
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanNDP4693Norrie disease (pseudoglioma)
img OMIM, Score=1000, UMLKSK CUI: C0035313
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035313Retinal Dysplasia0self