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Details
Link-It Detail - Disease - Megacolon
Debug Stats
  • ### Total Build Time: 27 ms 30.645 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 316 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 360 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 992 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.514 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 7.843 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 17.766 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Megacolon C0025160
Definition (1)
Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Colonic Diseases C0009373
Children (2)
img Hirschsprung Disease C0019569
img Megacolon, Toxic C0025162
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Gastrointestinal Diseases C00171785img Colonic Diseases C0009373
Relationships (16)

Relation Types:
diso_​to_​anat : 6
diso_​to_​diso : 10


Relationships:
none : 9
associated_​with : 1
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
location_​of : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO23img Chagas Disease C0041234
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_DISO9img Chagas Disease C0041234
DISO_to_DISO8img Constipation C0009806
DISO_to_ANAT7img Colon C0009368
DISO_to_ANAT7img Enteric Nervous System C0206111
DISO_to_ANAT6img Rectum C0034896
DISO_to_DISO6img Constipation C0009806
DISO_to_ANATlocation_ofimg Colon C0009368
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Digestive System C0012240
DISO_to_ANATis_associated_anatomic_site_ofimg Intestines C0021853
DISO_to_DISOmapped_toimg Acquired megacolon C1384597
DISO_to_DISOassociated_withimg Dilatation, Pathologic C0012359
DISO_to_DISOisaimg Hirschsprung Disease C0019569
DISO_to_DISOpermuted_term_ofimg Megacolon C0025160
Genes (48)

Species:
human : 48
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanRASGEF1A221002RasGEF domain family, member 1A
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanBBS1079738Bardet-Biedl syndrome 10
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanGFRA464096GDNF family receptor alpha 4
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanCSGALNACT255454chondroitin sulfate N-acetylgalactosaminyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanBBS755212Bardet-Biedl syndrome 7
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanBBS927241Bardet-Biedl syndrome 9
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanKIAA127926128KIAA1279
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanTRIM3222954tripartite motif containing 32
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0025160
HumanARTN9048artemin
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanPHOX2B8929paired-like homeobox 2b
img OMIM, Score=1000, UMLKSK CUI: C0025160
HumanMKKS8195McKusick-Kaufman syndrome
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanTTF17270transcription termination factor, RNA polymerase I
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanNKX2-17080
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanSOX106663SRY (sex determining region Y)-box 10
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanSNAI26591snail family zinc finger 2
INFERRED, Score=800, UMLKSK CUI: C0025160
HumanSLC6A86535solute carrier family 6 (neurotransmitter transporter), member 8
img OMIM, Score=1000, UMLKSK CUI: C0025160
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0025160Megacolon0self