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Details
Link-It Detail - Human Phenotype - Abnormality of the eye
Debug Stats
  • ### Total Build Time: 105 ms 38.481 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 197 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 255 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
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  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 10.089 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.083 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=102 ms Completed: 102 ms rowSize= 23.956 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.017 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the eye HP:0000478
Definition (1)
Any abnormality of the `eye` (FMA:54448), including location, spacing, and intraocular abnormalities.
Parents (2)
img Phenotypic abnormality HP:0000118
img Abnormality of the head HP:0000234
Children (31)
img Abnormality of globe location or size HP:0000489
img Ptosis HP:0000508
img Abnormality of the anterior segment of the eye HP:0004328
img Strabismus HP:0000486
img Abnormality of the uvea HP:0000553
img Inflammatory abnormality of the eye HP:0100533
img Glaucoma HP:0000501
img Abnormality of tear glands or tear production HP:0000521
img Abnormality of refraction HP:0000539
img Abnormality of the posterior segment of the eye HP:0004329
img Prominent eyes HP:0000536
img Neoplasm of the eye HP:0100012
img Spontaneous rupture of the globe HP:0010727
img Eye poking HP:0001483
img Abnormality of the conjunctiva HP:0000502
img Abnormality of the vasculature of the eye HP:0008047
img Abnormality of the extraocular muscles HP:0008049
img Hemorrhage of the eye HP:0011885
img Abnormality of globe size HP:0100887
img Coloboma HP:0000589
img Abnormality of the sclera HP:0000591
img Abnormality of the periorbital region HP:0000606
img Phthisis bulbi HP:0000667
img Aplasia/Hypoplasia affecting the eye HP:0008056
img Prominent ocular inflammation HP:0007891
img Abnormality of eye movement HP:0000496
img Intraocular melanoma HP:0007716
img Abnormality of vision HP:0000504
img Abnormality of the pupil HP:0000615
img Abnormality of globe location HP:0100886
img Hamartoma of the eye HP:0010568
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001183img Phenotypic abnormality HP:0000118
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the head HP:0000234
Genes (1736)

Species:
human : 1736
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCTRCT29101867602Cataract 29, coralliform
img HP IEA, OMIM ID: 115800
HumanGLC1P101448070glaucoma 1, open angle, P
img HP RolledUp, OMIM ID: 177700
img HP RolledUp, OMIM ID: 615141
HumanCORD17101409267cone rod dystrophy 17 (autosomal dominant)
img HP RolledUp, OMIM ID: 615163
HumanUSH1K101180907Usher syndrome 1K (autosomal recessive)
img HP RolledUp, OMIM ID: 614990
HumanECTD7101101771Ectodermal dysplasia 7, hair/nail type
img HP RolledUp, OMIM ID: 614929
HumanECTD8101101768Ectodermal dysplasia 8, hair/tooth/nail type
img HP RolledUp, OMIM ID: 602401
HumanNYS7101055624Nystagmus 7, congenital
img HP RolledUp, OMIM ID: 614826
HumanDUP16P11.2100909384
img HP RolledUp, OMIM ID: 614671
HumanKTCN7100887822Keratoconus 7
img HP RolledUp, OMIM ID: 614629
HumanDELXQ21100887743Choroideremia, deafness, and mental retardation
img HP RolledUp, OMIM ID: 303110
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
HumanDEL8Q12Q21100885787Bor-Duane hydrocephalus contiguous gene syndrome
img HP IEA, OMIM ID: 600257
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDYT21100885773dystonia 21, torsion (autosomal dominant)
img HP RolledUp, OMIM ID: 614588
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
img HP RolledUp, OMIM ID: 614541
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanRP63100862681Retinitis pigmentosa 63
img HP RolledUp, OMIM ID: 614494
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000478Abnormality of the eye0self