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Details
Link-It Detail - Disease - Eye Abnormalities
Debug Stats
  • ### Total Build Time: 16 ms 41.795 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 380 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 236 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= 305 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 990 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 3.935 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.819 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 13.945 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 18.051 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Eye Abnormalities C0015393
Abnormalities, Eye
Definition (1)
Congenital absence of or defects in structures of the eye; may also be hereditary.
Semantic Types (3)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Acquired Abnormality (T020)
Parents (2)
img Congenital Abnormalities C0000768
img Eye Diseases C0015397
Children (9)
img Blepharophimosis C0005744
img Anophthalmos C0003119
img Retinal Dysplasia C0035313
img Coloboma C0009363
img Microphthalmos C0026010
img Hydrophthalmos C0020302
img Persistent Hyperplastic Primary Vitreous C0266568
img Aniridia C0003076
img Ectopia Lentis C0013581
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
img Eye Diseases C0015397img Congenital Abnormalities C00007682img Eye Diseases C0015397
Relationships (156)

Relation Types:
diso_​to_​anat : 20
diso_​to_​chem : 23
diso_​to_​diso : 109
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 61
associated_​with : 4
classifies : 2
isa : 18
location_​of : 1
mapped_​to : 58
may_​treat : 12
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN235img genetic aspects C0017399
DISO_to_PHEN176img genetic aspects C0017399
DISO_to_DISO116img Abnormalities, Multiple C0000772
DISO_to_DISO106img Abnormalities, Multiple C0000772
DISO_to_DISO106img Complication Aspects C1171258
DISO_to_DISO96img Complication Aspects C1171258
DISO_to_ANAT65img Optic Disk C0029127
DISO_to_ANAT44img Optic Disk C0029127
DISO_to_PHYS41img Mutation C0026882
DISO_to_CHEM37img TRANSCRIPTION FACTOR C0040648
DISO_to_ANAT32img Cornea C0010031
DISO_to_ANAT31img Anterior Eye Segment C0003153
DISO_to_ANAT31img Vitreous Body C0042905
DISO_to_ANAT29img Iris C0022077
DISO_to_CHEM29img Homeo Domain Proteins C0242617
DISO_to_CHEM29img Homeodomain Proteins C0242617
DISO_to_DISO29img Cerebellar Diseases C0007760
DISO_to_ANAT28img Brain C0006104
DISO_to_ANAT28img Cornea C0010031
DISO_to_DISO27img Cystic Kidney Diseases C1691228
DISO_to_CHEM25img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO25img Cataract C0086543
DISO_to_DISO24img Glaucoma C0017601
DISO_to_ANAT23img Anterior Eye Segment C0003153
DISO_to_DISO23img Glaucoma C0017601
Genes (79)

Species:
human : 79
Page Size
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanVSX2338917visual system homeobox 2
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanDMBX1127343diencephalon/mesencephalon homeobox 1
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanMFRP83552membrane frizzled-related protein
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanSTRA664220stimulated by retinoic acid 6
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanCHD755636chromodomain helicase DNA binding protein 7
img GENERIF, Score=869, Pubmed Id: 18484313, UMLKSK CUI: C0015393
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanBCOR54880BCL6 corepressor
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanRAX30062retina and anterior neural fold homeobox
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanPOMT229954protein-O-mannosyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanEBP10682emopamil binding protein (sterol isomerase)
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanPOMT110585protein-O-mannosyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanAASS10157aminoadipate-semialdehyde synthase
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanPQBP110084polyglutamine binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanLARGE9215like-glycosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0015393
HumanSNX38724sorting nexin 3
INFERRED, Score=800, UMLKSK CUI: C0015393
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0015393Eye Abnormalities0self