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Details
Link-It Detail - Disease - Congenital omphalocele
Debug Stats
  • ### Total Build Time: 233 ms 22.969 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 324 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=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=21 ms Completed: 21 ms rowSize= 6.035 KB
  • CONCEPT_GENES gt=209 ms Completed: 209 ms rowSize= 15.057 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital omphalocele C0795690
Definition (1)
A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.
Relationships (13)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 10


Relationships:
associated_​with : 2
isa : 5
location_​of : 3
mapped_​to : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Abdominal Wall C0836916
DISO_to_ANATlocation_ofimg Intestine, Small C0021852
DISO_to_ANATlocation_ofimg Umbilicus C0041638
DISO_to_DISOisaimg Beckwith-Wiedemann Syndrome C0004903
DISO_to_DISOmapped_toimg Congenital exomphalos C1306503
DISO_to_DISOassociated_withimg Congenital failure of fusion C0332915
DISO_to_DISOassociated_withimg Congenital hernia C0235832
DISO_to_DISOmapped_toimg Congenital omphalocele C0795690
DISO_to_DISOisaimg Gangrenous omphalocele C0266179
DISO_to_DISOisaimg Hepatomphalocele C0267709
DISO_to_DISOisaimg Incarcerated omphalocele C2937221
DISO_to_DISOmapped_toimg Omphalocele - irreducible C0729573
DISO_to_DISOisaimg Simple omphalocele C0473126
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanRAB2351715RAB23, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanYWHAE7531tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanTSHB7252thyroid stimulating hormone, beta
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanPAFAH1B15048platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanLRP24036low density lipoprotein receptor-related protein 2
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanFLNA2316filamin A, alpha
img OMIM, Score=1000, UMLKSK CUI: C0795690
img OMIM, Score=1000, UMLKSK CUI: C0795690
img OMIM, Score=1000, UMLKSK CUI: C0795690
HumanCDKN1C1028cyclin-dependent kinase inhibitor 1C (p57, Kip2)
img OMIM, Score=1000, UMLKSK CUI: C0795690
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0795690Congenital omphalocele0self