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Details
Link-It Detail - Disease - Digestive System Abnormalities
Debug Stats
  • ### Total Build Time: 29 ms 41.275 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 425 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 214 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,003 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 3.956 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.845 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 13.751 KB
  • CONCEPT_GENES gt=23 ms Completed: 23 ms rowSize= 17.688 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Digestive System Abnormalities C0266015
Congenital digestive system anomalies
Definition (1)
Congenital structural abnormalities of the DIGESTIVE SYSTEM.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Congenital Abnormalities C0000768
img Digestive System Diseases C0012242
Children (9)
img Hirschsprung Disease C0019569
img Meckel Diverticulum C0025037
img Diaphragmatic Eventration C0011981
img Anus, Imperforate C0003466
img Esophageal Atresia C0014850
img Biliary Atresia C0005411
img Intestinal Atresia C0021828
img Choledochal Cyst C0008340
img Barrett Esophagus C0004763
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
img Digestive System Diseases C0012242img Congenital Abnormalities C00007682img Digestive System Diseases C0012242
Relationships (77)

Relation Types:
diso_​to_​anat : 12
diso_​to_​chem : 4
diso_​to_​diso : 60
diso_​to_​phen : 1


Relationships:
none : 20
associated_​with : 1
classified_​as : 35
classifies : 1
entry_​version_​of : 1
isa : 5
location_​of : 1
mapped_​to : 9
may_​treat : 4
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO46img Complication Aspects C1171258
DISO_to_ANAT42img Anal Canal C0227411
DISO_to_ANAT38img Rectum C0034896
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_ANAT17img Rectum C0034896
DISO_to_DISO17img Abnormalities, Multiple C0000772
DISO_to_ANAT14img Intestines C0021853
DISO_to_ANAT12img Anal Canal C0227411
DISO_to_ANAT11img Colon C0009368
DISO_to_ANAT11img Stomach C0038351
DISO_to_DISO10img Syringomyelia C0039144
DISO_to_DISO9img Intestinal Obstruction C0021843
DISO_to_DISO8img Abnormalities, Multiple C0000772
DISO_to_ANAT7img Intestines C0021853
DISO_to_ANAT7img Pancreas C0030274
DISO_to_DISO7img ABNORM UROGENITAL C0042063
DISO_to_DISO7img Intestinal Obstruction C0021843
DISO_to_ANAT6img Colon C0009368
DISO_to_DISO6img Intestinal Diseases C0021831
DISO_to_ANATlocation_ofimg Digestive System C0012240
DISO_to_ANATmapped_toimg Vestigial gastrointestinal remnant C0459886
DISO_to_CHEMmay_treatimg Angelica Extract C0771998
DISO_to_CHEMmay_treatimg FENUGREEK SEED PWDR C1177109
DISO_to_CHEMmay_treatimg Fenugreek seed preparation C1178580
Genes (120)

Species:
human : 120
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanRASGEF1A221002RasGEF domain family, member 1A
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanBBS1079738Bardet-Biedl syndrome 10
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanSTRA664220stimulated by retinoic acid 6
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanGFRA464096GDNF family receptor alpha 4
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanCFC155997cripto, FRL-1, cryptic family 1
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanCSGALNACT255454chondroitin sulfate N-acetylgalactosaminyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanBBS755212Bardet-Biedl syndrome 7
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanPOMT229954protein-O-mannosyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanBBS927241Bardet-Biedl syndrome 9
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanKIAA127926128KIAA1279
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanTRIM3222954tripartite motif containing 32
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanANXA1011199annexin A10
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanPOMT110585protein-O-mannosyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0266015
HumanPQBP110084polyglutamine binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0266015
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266015Digestive System Abnormalities0self