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Details
Link-It Detail - Human Phenotype - Abnormality of the lens
Debug Stats
  • ### Total Build Time: 46 ms 29.302 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 198 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 195 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=3 ms Completed: 3 ms rowSize= 467 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.995 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.129 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 23.176 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.018 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the lens HP:0000517
Definition (1)
An abnormality of the `lens` (FMA:58241).
Parents (1)
img Abnormality of the anterior segment of the eye HP:0004328
Children (6)
img Aplasia/Hypoplasia of the lens HP:0008063
img Lens dislocation HP:0000665
img Abnormality of lens shape HP:0011526
img Ectopia lentis HP:0001083
img Lenticonus HP:0001142
img Cataract HP:0000518
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 (354)

Species:
human : 354
Page Size
Current 25
  Page 1 of 15
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCTRCT29101867602Cataract 29, coralliform
img HP RolledUp, OMIM ID: 115800
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanMYP17100359401myopia 17
img HP RolledUp, OMIM ID: 608367
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDUP1Q21100217371Chromosome 1q21.1 duplication syndrome
img HP RolledUp, OMIM ID: 612475
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP RolledUp, OMIM ID: 612474
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanMICRODEL3Q29100188788Chromosome 3q29 microdeletion syndrome
img HP RolledUp, OMIM ID: 609425
HumanDFCTRPS100188774Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
img HP RolledUp, OMIM ID: 300719
HumanCTPP5791086Cataract, posterior polar, 5
img HP RolledUp, OMIM ID: 610634
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanEKV3574017erythrokeratodermia variabilis 3 (Kamouraska type)
img HP RolledUp, OMIM ID: 609313
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanMYP4393093myopia 4 (high grade, autosomal dominant)
img HP RolledUp, OMIM ID: 608367
HumanSLC16A12387700solute carrier family 16, member 12
img HP RolledUp, OMIM ID: 612018
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanZLS353173Zimmerman-Laband Syndrome
img HP RolledUp, OMIM ID: 135500
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000517Abnormality of the lens0self