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Details
Link-It Detail - Disease - Congenital keratoglobus
Debug Stats
  • ### Total Build Time: 19 ms 14.459 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 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=13 ms Completed: 13 ms rowSize= 9.117 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 3.778 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital keratoglobus C0344530
Relationships (20)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 19


Relationships:
alias_​of : 1
associated_​with : 1
inheritance_​type_​of : 1
location_​of : 1
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Cornea C0010031
DISO_to_DISOmanifestation_ofimg Anterior chamber depth increased C3275596
DISO_to_DISOmanifestation_ofimg Arcus juvenilis C0339268
DISO_to_DISOmanifestation_ofimg Astigmatic refractive errors C3275598
DISO_to_DISOmanifestation_ofimg Carrier females show no clinical phenotype C3275606
DISO_to_DISOmanifestation_ofimg Cataracts (in older patients) C3275604
DISO_to_DISOmanifestation_ofimg Caused by mutation in the chordin-like-1 gene (CHRDL1, 300350.0001) C3275605
DISO_to_DISOmanifestation_ofimg Central corneal thickness decreased C3275597
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
DISO_to_DISOalias_ofimg Congenital keratoglobus C0344530
DISO_to_DISOmanifestation_ofimg Glaucoma secondary to lens subluxation or dislocation C3275603
DISO_to_DISOmanifestation_ofimg Iridodonesis C0423320
DISO_to_DISOmanifestation_ofimg Iris stromal atrophy C3275601
DISO_to_DISOmanifestation_ofimg Iris transillumination with pigment dispersion C3275602
DISO_to_DISOmanifestation_ofimg Lens dislocation &/or subluxation C1971636
DISO_to_DISOmanifestation_ofimg Megalocornea (corneal diameter of 13mm and greater in affected males) C3275595
DISO_to_DISOmanifestation_ofimg Miosis due to decreased function of dilator muscle C3275599
DISO_to_DISOmanifestation_ofimg Mosaic corneal dystrophy ('shagreen') C3275600
DISO_to_DISOmanifestation_ofimg Normal intraocular pressure C0578863
DISO_to_DISOinheritance_type_ofimg X- linked recessive C1845977
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanZNF46984627zinc finger protein 469
img OMIM, Score=1000, UMLKSK CUI: C0344530
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
img OMIM, Score=1000, UMLKSK CUI: C0344530
HumanKIAA127926128KIAA1279
img OMIM, Score=1000, UMLKSK CUI: C0344530
HumanPITX25308paired-like homeodomain 2
img OMIM, Score=1000, UMLKSK CUI: C0344530
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0344530Congenital keratoglobus0self