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Details
Link-It Detail - Human Phenotype - Abnormality of globe size
Debug Stats
  • ### Total Build Time: 45 ms 32.973 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 200 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 211 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=5 ms Completed: 5 ms rowSize= 1.089 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.676 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 3.951 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 24.691 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 globe size HP:0100887
Definition (1)
An abnormality in the size of the ocular globe (eyeball).
Parents (3)
img Abnormality of the eye HP:0000478
img Abnormality of the ocular region HP:0000284
img Abnormality of the orbital region HP:0000315
Children (5)
img Increased axial globe length HP:0007800
img Cryptophthalmos HP:0001126
img Large eyes HP:0001090
img Anophthalmia HP:0000528
img Microphthalmos HP:0000568
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the eye HP:0000478
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the eye HP:0000478
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the ocular region HP:0000284
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the orbital region HP:0000315
Genes (121)

Species:
human : 121
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanDEL1Q41Q42100529242Chromosome 1q41-q42 deletion syndrome
img HP RolledUp, OMIM ID: 612530
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanAOS100188340Adams-Oliver syndrome
img HP RolledUp, OMIM ID: 100300
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 613703
img HP RolledUp, OMIM ID: 613094
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanVSX2338917visual system homeobox 2
img HP RolledUp, OMIM ID: 610093
img HP RolledUp, OMIM ID: 610092
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanHFM170474Hemifacial microsomia
img HP RolledUp, OMIM ID: 164210
HumanARX170302aristaless related homeobox
img HP RolledUp, OMIM ID: 300004
HumanFREM1158326FRAS1 related extracellular matrix 1
img HP RolledUp, OMIM ID: 248450
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanB3GALNT2148789beta-1,3-N-acetylgalactosaminyltransferase 2
img HP RolledUp, OMIM ID: 615181
HumanTUBGCP685378tubulin, gamma complex associated protein 6
img HP RolledUp, OMIM ID: 251270
HumanPOMGNT284892protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
img HP RolledUp, OMIM ID: 614830
HumanBRIP183990BRCA1 interacting protein C-terminal helicase 1
img HP RolledUp, OMIM ID: 609054
HumanMFRP83552membrane frizzled-related protein
img HP RolledUp, OMIM ID: 609549
img HP RolledUp, OMIM ID: 611040
HumanFRAS180144Fraser syndrome 1
img HP RolledUp, OMIM ID: 219000
HumanTCTN279867tectonic family member 2
img HP RolledUp, OMIM ID: 613885
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 253280
img HP RolledUp, OMIM ID: 236670
img HP RolledUp, OMIM ID: 613153
HumanTMEM23765062transmembrane protein 237
img HP RolledUp, OMIM ID: 614424
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100887Abnormality of globe size0self