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Details
Link-It Detail - Human Phenotype - Abnormality of the large intestine
Debug Stats
  • ### Total Build Time: 33 ms 30.224 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 209 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 206 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=6 ms Completed: 6 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= 449 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 5.205 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.094 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 20.908 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.028 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the large intestine HP:0002250
Definition (1)
Any abnormality of the `large intestine` (FMA:7201).
Parents (1)
img Abnormality of the intestine HP:0002242
Children (16)
img Colon cancer HP:0003003
img Urinary or fecal incontinence HP:0007147
img Bowel incontinence HP:0002607
img Hypoplastic colon HP:0005210
img Aplasia/Hypoplasia of the colon HP:0100811
img Neoplasm of the large intestine HP:0100834
img Distal intestinal obstruction syndrome HP:0002610
img Abnormality of the rectum HP:0002034
img Colonic diverticulosis HP:0002253
img Duplicated colon HP:0005223
img Malrotation of colon HP:0004785
img Colonic atresia HP:0010448
img Microcolon HP:0004388
img Abnormality of the enteric ganglia HP:0004362
img Colitis HP:0002583
img Adenomatous colonic polyposis HP:0005227
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the intestine HP:0002242
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the intestine HP:0002242
Genes (218)

Species:
human : 218
Page Size
Current 25
  Page 1 of 9
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanTRIP4Q32.1Q32.2100529228
img HP RolledUp, OMIM ID: 613603
HumanPVOP1100312952Pelvic organ prolapse, susceptibility to, 1
img HP RolledUp, OMIM ID: 176780
HumanCRCS10100271691Colorectal cancer, susceptibility to, 10
img HP RolledUp, OMIM ID: 612591
HumanIBD25100270799Inflammatory bowel disease-25
img HP RolledUp, OMIM ID: 612567
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanASDP100187749anal sphincter dysplasia
img HP RolledUp, OMIM ID: 105563
HumanCD24100133941CD24 molecule
HumanSPG37100049159spastic paraplegia 37 (autosomal dominant)
HumanSPG36791228spastic paraplegia 36 (autosomal dominant)
img HP RolledUp, OMIM ID: 613096
HumanNCF1653361neutrophil cytosolic factor 1
img HP RolledUp, OMIM ID: 233700
HumanSPG29619379spastic paraplegia 29 (autosomal dominant)
HumanCDAGS574043Craniosynostosis, anal anomalies, and porokeratosis syndrome
img HP RolledUp, OMIM ID: 603116
HumanHSCR5404720Hirschsprung disease, susceptibility to, 5
img HP RolledUp, OMIM ID: 600156
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanFLCN201163folliculin
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanARX170302aristaless related homeobox
img HP RolledUp, OMIM ID: 300215
HumanBBS12166379Bardet-Biedl syndrome 12
img HP RolledUp, OMIM ID: 209900
HumanFREM1158326FRAS1 related extracellular matrix 1
img HP RolledUp, OMIM ID: 608980
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanSPG19140907spastic paraplegia 19 (autosomal dominant)
HumanBBS5129880Bardet-Biedl syndrome 5
img HP RolledUp, OMIM ID: 209900
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002250Abnormality of the large intestine0self