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Details
Link-It Detail - Human Phenotype - Abnormality of the cornea
Debug Stats
  • ### Total Build Time: 92 ms 37.512 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 200 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 305 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=4 ms Completed: 4 ms rowSize= 467 bytes
  • CONCEPT_CHILDREN gt=18 ms Completed: 18 ms rowSize= 10.280 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.129 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=48 ms Completed: 48 ms rowSize= 22.989 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.020 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the cornea HP:0000481
Definition (1)
Any abnormality of the `cornea` (FMA:58238), which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
Parents (1)
img Abnormality of the anterior segment of the eye HP:0004328
Children (32)
img Lipemia retinalis HP:0000660
img Epibulbar dermoids HP:0001140
img Fibrous dysplasia of the cornea HP:0007771
img Keratoconjunctivitis HP:0001096
img Abnormality of corneal size HP:0001120
img Corneal crystals HP:0000531
img Corneal dystrophy HP:0001131
img Decreased corneal reflex HP:0008000
img Abnormality of the line of Schwalbe HP:0008048
img Abnormality of corneal endothelium HP:0011488
img Abnormality of corneal stroma HP:0011492
img Abnormality of corneal epithelium HP:0011495
img Decreased corneal sensation HP:0012155
img Corneal erosions HP:0200020
img Embryotoxon HP:0100740
img Corneal degeneration HP:0007705
img Corneal perforation HP:0100583
img Iridocele HP:0100793
img Prominent corneal nerve fibers HP:0010726
img Abnormality of corneal thickness HP:0011486
img Abnormality of the curvature of the cornea HP:0100691
img Peters anomaly HP:0000659
img Corneal arcus HP:0001084
img Corneal opacity HP:0000515
img Reduction of corneal clarity HP:0007957
img Astigmatism HP:0000483
img Keratitis HP:0000491
img Band keratopathy HP:0000585
img Posterior embryotoxon HP:0000627
img Corneal scarring HP:0000559
img Asymmetry of the corneas HP:0009915
img Kayser-Fleischer ring HP:0200032
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the anterior segment of the eye HP:0004328
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the anterior segment of the eye HP:0004328
Genes (308)

Species:
human : 308
Page Size
Current 25
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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
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanBED100653365Bornholm eye disease
img HP RolledUp, OMIM ID: 300843
HumanLCR-OPSIN100534624
img HP RolledUp, OMIM ID: 303700
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanDUP5P13100379202Chromosome 5p13 duplication syndrome
img HP RolledUp, OMIM ID: 613174
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanFECD2100188278corneal dystrophy, Fuchs endothelial 2
img HP RolledUp, OMIM ID: 610158
HumanNYS5780901Nystagmus 5, infantile periodic alternating
img HP RolledUp, OMIM ID: 300589
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanPRSS56646960protease, serine, 56
img HP RolledUp, OMIM ID: 613517
HumanWTRS619509Wittwer syndrome
img HP RolledUp, OMIM ID: 300421
HumanMIR184406960microRNA 184
img HP RolledUp, OMIM ID: 614303
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanSLC16A12387700solute carrier family 16, member 12
img HP RolledUp, OMIM ID: 612018
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanCYP4V2285440cytochrome P450, family 4, subfamily V, polypeptide 2
img HP RolledUp, OMIM ID: 210370
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000481Abnormality of the cornea0self