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Details
Link-It Detail - Human Phenotype - Abnormality of the enteric ganglia
Debug Stats
  • ### Total Build Time: 44 ms 33.363 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 209 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 432 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=4 ms Completed: 4 ms rowSize= 1.107 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.188 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=21 ms Completed: 21 ms rowSize= 4.912 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 23.356 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.028 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the enteric ganglia HP:0004362
Definition (1)
An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.
Parents (3)
img Abnormality of the intestine HP:0002242
img Abnormality of the large intestine HP:0002250
img Abnormal autonomic nervous system morphology HP:0012331
Children (6)
img Total intestinal aganglionosis HP:0005241
img Aganglionic megacolon HP:0002251
img Absent enteric ganglia along a variable length of intestine HP:0003283
img Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel HP:0002606
img Decreased myenteric and submucosal ganglia in the bowel HP:0002596
img Aganglionosis of the small intestine HP:0011464
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
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the large intestine HP:0002250
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the large intestine HP:0002250
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal autonomic nervous system morphology HP:0012331
Genes (55)

Species:
human : 55
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanTRIP4Q32.1Q32.2100529228
img HP RolledUp, OMIM ID: 613603
HumanHSCR5404720Hirschsprung disease, susceptibility to, 5
img HP RolledUp, OMIM ID: 600156
HumanARX170302aristaless related homeobox
img HP RolledUp, OMIM ID: 300215
HumanBBS12166379Bardet-Biedl syndrome 12
img HP RolledUp, OMIM ID: 209900
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
HumanTTC8123016tetratricopeptide repeat domain 8
img HP RolledUp, OMIM ID: 209900
HumanTMEM6791147transmembrane protein 67
img HP RolledUp, OMIM ID: 209900
HumanARL684100ADP-ribosylation factor-like 6
img HP RolledUp, OMIM ID: 209900
HumanCEP29080184centrosomal protein 290kDa
img HP RolledUp, OMIM ID: 209900
HumanBBS1079738Bardet-Biedl syndrome 10
img HP RolledUp, OMIM ID: 209900
HumanCCDC28B79140coiled-coil domain containing 28B
img HP RolledUp, OMIM ID: 209900
HumanSALL457167sal-like 4 (Drosophila)
img HP RolledUp, OMIM ID: 607323
HumanPIGV55650phosphatidylinositol glycan anchor biosynthesis, class V
img HP RolledUp, OMIM ID: 239300
HumanBBS755212Bardet-Biedl syndrome 7
img HP RolledUp, OMIM ID: 209900
HumanMKS154903Meckel syndrome, type 1
img HP RolledUp, OMIM ID: 209900
HumanMBTPS251360membrane-bound transcription factor peptidase, site 2
img HP RolledUp, OMIM ID: 308205
img HP RolledUp, OMIM ID: 300404
HumanWDPCP51057WD repeat containing planar cell polarity effector
img HP RolledUp, OMIM ID: 209900
HumanBBS927241Bardet-Biedl syndrome 9
img HP RolledUp, OMIM ID: 209900
HumanKIAA127926128KIAA1279
img HP RolledUp, OMIM ID: 609460
HumanTRIM3222954tripartite motif containing 32
img HP RolledUp, OMIM ID: 209900
HumanSDCCAG810806serologically defined colon cancer antigen 8
img HP RolledUp, OMIM ID: 209900
HumanSF3B410262splicing factor 3b, subunit 4, 49kDa
img HP RolledUp, OMIM ID: 154400
HumanZEB29839zinc finger E-box binding homeobox 2
img HP RolledUp, OMIM ID: 235730
HumanPHOX2B8929paired-like homeobox 2b
img HP RolledUp, OMIM ID: 142623
img HP RolledUp, OMIM ID: 613013
img HP RolledUp, OMIM ID: 209880
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004362Abnormality of the enteric ganglia0self