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Details
Link-It Detail - Disease - Cohen syndrome
Debug Stats
  • ### Total Build Time: 89 ms 16.438 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 326 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=80 ms Completed: 80 ms rowSize= 12.105 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.795 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cohen syndrome C0265223
Relationships (44)

Relation Types:
diso_​to_​diso : 44


Relationships:
expanded_​form_​of : 1
manifestation_​of : 43
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Almond-shaped eyes C1867878
DISO_to_DISOmanifestation_ofimg CEREBELLAR HYPOPLASIA C0266470
DISO_to_DISOmanifestation_ofimg Caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (VPS13B, 607817.0001) C3278016
DISO_to_DISOmanifestation_ofimg Cheerful disposition C1857636
DISO_to_DISOmanifestation_ofimg Chorioretinal dystrophy C1857627
DISO_to_DISOexpanded_form_ofimg Cohen syndrome C0265223
DISO_to_DISOmanifestation_ofimg Congenital cubitus valgus C0265611
DISO_to_DISOmanifestation_ofimg Decreased visual acuity C0234632
DISO_to_DISOmanifestation_ofimg Delayed Puberty C0034012
DISO_to_DISOmanifestation_ofimg Delayed motor milestones C1847765
DISO_to_DISOmanifestation_ofimg Down slanting palpebral fissures C1835885
DISO_to_DISOmanifestation_ofimg Facial hypotonia C1845251
DISO_to_DISOmanifestation_ofimg Genu valga ICD10CM:M21.06 C3276330
DISO_to_DISOmanifestation_ofimg High narrow palate C1837404
DISO_to_DISOmanifestation_ofimg Increased frequency in Ashkenazi Jewish population and in Finland C1857637
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Joint hyperextensibility C1857631
DISO_to_DISOmanifestation_ofimg Large corpus callosum C1857625
DISO_to_DISOmanifestation_ofimg Leukopenia C0023530
DISO_to_DISOmanifestation_ofimg Low Birth Weights C0024032
DISO_to_DISOmanifestation_ofimg MAXILLARY HYPOPLASIA C0240310
DISO_to_DISOmanifestation_ofimg MICROCEPHALY C0025958
DISO_to_DISOmanifestation_ofimg Micrognathia, mild C1854683
DISO_to_DISOmanifestation_ofimg Mild lumbar lordosis C1857629
DISO_to_DISOmanifestation_ofimg Mild shortened metacarpals C1857633
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img GENERIF, Score=1000, Pubmed Id: 15141358, UMLKSK CUI: C0265223
img GENERIF, Score=1000, Pubmed Id: 15154116, UMLKSK CUI: C0265223
img GENERIF, Score=861, Pubmed Id: 18655112, UMLKSK CUI: C0265223
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265223Cohen syndrome0self