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Details
Link-It Detail - Human Phenotype - Abnormality of the anterior chamber
Debug Stats
  • ### Total Build Time: 22 ms 29.838 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 286 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=2 ms Completed: 2 ms rowSize= 467 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.698 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.129 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.896 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the anterior chamber HP:0000593
Definition (1)
Abnormality of the `anterior chamber` (FMA:58078), which is the space in the eye that is behind the cornea and in front of the iris.
Parents (1)
img Abnormality of the anterior segment of the eye HP:0004328
Children (8)
img Shallow anterior chamber HP:0000594
img Anterior segment dysgenesis HP:0007700
img Anterior chamber synechiae HP:0007833
img Corneolenticular adhesion HP:0011485
img Anterior chamber mesodermal anomalies HP:0008040
img Anterior chamber malformation HP:0007699
img Deep anterior chamber HP:0007765
img Absent anterior eye chamber HP:0008037
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 (47)

Species:
human : 47
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanASXL1171023additional sex combs like 1 (Drosophila)
img HP TAS, OMIM ID: 605039
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanCHST14113189carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
img HP IEA, OMIM ID: 601776
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252500
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 253280
img HP RolledUp, OMIM ID: 236670
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img HP RolledUp, OMIM ID: 253280
HumanRNANC54719Retinal nonattachment, nonsyndromic congenital
img HP RolledUp, OMIM ID: 221900
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
HumanPOMT229954protein-O-mannosyltransferase 2
img HP RolledUp, OMIM ID: 236670
img HP RolledUp, OMIM ID: 613150
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
img HP RolledUp, OMIM ID: 268130
HumanKIAA127926128KIAA1279
img HP RolledUp, OMIM ID: 609460
HumanPRDM511107PR domain containing 5
img HP RolledUp, OMIM ID: 614170
HumanPOMT110585protein-O-mannosyltransferase 1
img HP RolledUp, OMIM ID: 236670
HumanCD9610225CD96 molecule
img HP TAS, OMIM ID: 605039
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP RolledUp, OMIM ID: 194050
HumanLARGE9215like-glycosyltransferase
img HP RolledUp, OMIM ID: 236670
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img HP RolledUp, OMIM ID: 194190
HumanWHCR7467Wolf-Hirschhorn syndrome chromosome region
img HP RolledUp, OMIM ID: 194190
HumanSOX106663SRY (sex determining region Y)-box 10
img HP RolledUp, OMIM ID: 601706
HumanRIEG26012Rieger syndrome 2
img HP RolledUp, OMIM ID: 601499
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000593Abnormality of the anterior chamber0self