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Details
Link-It Detail - Human Phenotype - Abnormality of corneal size
Debug Stats
  • ### Total Build Time: 624 ms 28.655 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 202 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 210 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=17 ms Completed: 17 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 446 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.290 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.088 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=599 ms Completed: 599 ms rowSize= 21.273 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of corneal size HP:0001120
Definition (1)
Any abnormality of the size or morphology of the cornea.
Parents (1)
img Abnormality of the cornea HP:0000481
Children (10)
img Decreased corneal diameter HP:0100688
img Keratoglobus HP:0001119
img Congenital cornea plana HP:0007720
img Megalocornea HP:0000485
img Decreased corneal thickness HP:0100689
img Abnormality of the curvature of the cornea HP:0100691
img Increased corneal diameter HP:0007660
img Microcornea HP:0000482
img Keratoconus HP:0000563
img Asymmetry of the corneas HP:0009915
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the cornea HP:0000481
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the cornea HP:0000481
Genes (137)

Species:
human : 137
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanKTCN7100887822Keratoconus 7
img HP RolledUp, OMIM ID: 614629
HumanKTCN8100885803Keratoconus 8
img HP RolledUp, OMIM ID: 614628
HumanKTCN6100885802Keratoconus 6
img HP RolledUp, OMIM ID: 614623
HumanKTCN5100885801Keratoconus 5
img HP RolledUp, OMIM ID: 614622
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanBED100653365Bornholm eye disease
img HP RolledUp, OMIM ID: 300843
HumanDUP5P13100379202Chromosome 5p13 duplication syndrome
img HP RolledUp, OMIM ID: 613174
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanNYS5780901Nystagmus 5, infantile periodic alternating
img HP RolledUp, OMIM ID: 300589
HumanPRSS56646960protease, serine, 56
img HP RolledUp, OMIM ID: 613517
HumanMIR184406960microRNA 184
img HP RolledUp, OMIM ID: 614303
HumanSLC16A12387700solute carrier family 16, member 12
img HP RolledUp, OMIM ID: 612018
HumanKCNV2169522potassium channel, subfamily V, member 2
img HP RolledUp, OMIM ID: 610356
HumanBBS12166379Bardet-Biedl syndrome 12
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanBBS5129880Bardet-Biedl syndrome 5
HumanTTC8123016tetratricopeptide repeat domain 8
HumanATOD5117188Dermatitis, atopic, 5
img HP RolledUp, OMIM ID: 603165
HumanATOD3117187Dermatitis, atopic, 3
img HP RolledUp, OMIM ID: 603165
HumanATOD6114477Dermatitis, atopic, 6
img HP RolledUp, OMIM ID: 603165
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanCHST14113189carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
img HP RolledUp, OMIM ID: 601776
HumanGORAB92344golgin, RAB6-interacting
img HP RolledUp, OMIM ID: 231070
HumanTMEM6791147transmembrane protein 67
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001120Abnormality of corneal size0self