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Details
Link-It Detail - Disease - Ectopia Lentis
Debug Stats
  • ### Total Build Time: 55 ms 28.419 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 232 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 987 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.066 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 9.241 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 12.232 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ectopia Lentis C0013581
Definition (1)
Congenital displacement of the lens resulting from defective zonule formation.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Lens Subluxation C0023316
img Eye Abnormalities C0015393
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Lens Diseases C00233084img Lens Subluxation C0023316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Eye Abnormalities C0015393
img Eye Diseases C0015397img Eye Abnormalities C00153933img Eye Abnormalities C0015393
Relationships (19)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 1
diso_​to_​diso : 13
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 5
associated_​with : 1
classifies : 2
is_​associated_​anatomic_​site_​of : 2
is_​finding_​of_​disease : 1
mapped_​to : 8
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_CHEM11img Microfilament Protein C0025978
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_PHYS11img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_ANATis_associated_anatomic_site_ofimg Lens, Crystalline C0023317
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg Aniridia, ectopia lentis, abnormal upper incisors and mental retardation C2931300
DISO_to_DISOmapped_toimg Blepharoptosis myopia ectopia lentis C1862259
DISO_to_DISOassociated_withimg Choristoma C0008519
DISO_to_DISOis_finding_of_diseaseimg Congenital Lesion C1707484
DISO_to_DISOmapped_toimg ECTOPIA LENTIS ET PUPILLAE C1644196
DISO_to_DISOmapped_toimg Ectopia Lentis C0013581
DISO_to_DISOmapped_toimg Ectopia lentis chorioretinal dystrophy myopia C2931115
DISO_to_DISOmapped_toimg Familial ectopia lentis C2746069
DISO_to_DISOmapped_toimg GEMSS syndrome C2931588
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmapped_toimg Simple ectopia lentis C1720383
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanAASS10157aminoadipate-semialdehyde synthase
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanTAPBP6892TAP binding protein (tapasin)
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanTAP26891transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanTAP16890transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanSUOX6821sulfite oxidase
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanPAX65080paired box 6
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0013581
img GENERIF, Score=901, Pubmed Id: 18471089, UMLKSK CUI: C0013581
img OMIM, Score=1000, UMLKSK CUI: C0013581
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanCOL5A21290collagen, type V, alpha 2
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanCOL5A11289collagen, type V, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0013581
HumanCOL1A11277collagen, type I, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0013581
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013581Ectopia Lentis0self