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Details
Link-It Detail - Disease - AEG SYNDROME
Debug Stats
  • ### Total Build Time: 102 ms 15.191 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=81 ms Completed: 81 ms rowSize= 12.186 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 1.475 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
AEG SYNDROME C1859773
Relationships (38)

Relation Types:
diso_​to_​diso : 38


Relationships:
alias_​of : 1
manifestation_​of : 36
related_​to : 1
Page Size
Current 25
  Page 1 of 2
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOalias_ofimg AEG SYNDROME C1859773
DISO_to_DISOmanifestation_ofimg ATRESIA ESOPHAGUS C0014850
DISO_to_DISOmanifestation_ofimg Absent ribs C1406327
DISO_to_DISOmanifestation_ofimg Accessory rib C0345397
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Anophthalmia, clinical C1855428
DISO_to_DISOmanifestation_ofimg Anterior pituitary hypoplasia C1859775
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Butterfly vertebrae C1844752
DISO_to_DISOmanifestation_ofimg CHHS C0342418
DISO_to_DISOmanifestation_ofimg Caused by mutation in the SRY (sex determining region Y)-box 2 gene (SOX2, 184427.0001) C1859780
DISO_to_DISOmanifestation_ofimg Coloboma C0009363
DISO_to_DISOmanifestation_ofimg Congenital hemivertebra C0265677
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of penis C0266435
DISO_to_DISOmanifestation_ofimg Corpus callosum hypoplasia C0344482
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Ductus Arteriosus, Patent C0013274
DISO_to_DISOmanifestation_ofimg Fused ribs C1844749
DISO_to_DISOmanifestation_ofimg Fused vertebrae C1849073
DISO_to_DISOmanifestation_ofimg Growth failure, postnatal C1859778
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Heart Septal Defects, Ventricular C0018818
DISO_to_DISOmanifestation_ofimg Hypogonadotropic hypogonadism C0271623
DISO_to_DISOmanifestation_ofimg Hypoplasia of the optic nerve C0338502
DISO_to_DISOmanifestation_ofimg Hypospadias C0848558
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSOX26657SRY (sex determining region Y)-box 2
img GENERIF, Score=1000, Pubmed Id: 17219395, UMLKSK CUI: C1859773
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1859773AEG SYNDROME0self