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Details
Link-It Detail - Human Phenotype - Abnormality of the anus
Debug Stats
  • ### Total Build Time: 49 ms 30.538 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 198 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 198 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=5 ms Completed: 5 ms rowSize= 800 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.605 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.113 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 23.489 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.018 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the anus HP:0004378
Definition (1)
Abnormality of the `anal canal` (FMA:15703).
Parents (2)
img Abnormality of the abdominal organs HP:0002012
img Abnormality of the gastrointestinal tract HP:0011024
Children (8)
img Anal stenosis HP:0002025
img Anal mucosal leukoplakia HP:0005212
img Anal fistula HP:0010447
img Anal atresia HP:0002023
img Ectopic anus HP:0004397
img Perianal rash HP:0011131
img Anoperineal fistula HP:0005218
img Perianal abscess HP:0009789
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the abdominal organs HP:0002012
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the gastrointestinal tract HP:0011024
Genes (74)

Species:
human : 74
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDER22T11-22100529146
img HP RolledUp, OMIM ID: 609029
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP PCS, OMIM ID: 607872
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanCDAGS574043Craniosynostosis, anal anomalies, and porokeratosis syndrome
img HP RolledUp, OMIM ID: 603116
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP IEA, OMIM ID: 219000
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanFREM1158326FRAS1 related extracellular matrix 1
img HP RolledUp, OMIM ID: 608980
img HP RolledUp, OMIM ID: 248450
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
img HP RolledUp, OMIM ID: 227260
HumanPIGO84720phosphatidylinositol glycan anchor biosynthesis, class O
img HP RolledUp, OMIM ID: 614749
HumanVANGL181839VANGL planar cell polarity protein 1
img HP RolledUp, OMIM ID: 600145
HumanFRAS180144Fraser syndrome 1
img HP IEA, OMIM ID: 219000
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 615087
img HP RolledUp, OMIM ID: 263510
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 236670
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanSALL457167sal-like 4 (Drosophila)
img HP RolledUp, OMIM ID: 607323
img HP RolledUp, OMIM ID: 147750
HumanPIGV55650phosphatidylinositol glycan anchor biosynthesis, class V
img HP RolledUp, OMIM ID: 239300
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanMKS154903Meckel syndrome, type 1
img HP RolledUp, OMIM ID: 249000
HumanBCOR54880BCL6 corepressor
img HP RolledUp, OMIM ID: 309800
HumanRIPK454101receptor-interacting serine-threonine kinase 4
img HP RolledUp, OMIM ID: 263650
HumanUPB151733ureidopropionase, beta
img HP RolledUp, OMIM ID: 613161
HumanPOMT229954protein-O-mannosyltransferase 2
img HP RolledUp, OMIM ID: 236670
HumanPIGN23556phosphatidylinositol glycan anchor biosynthesis, class N
img HP RolledUp, OMIM ID: 614080
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004378Abnormality of the anus0self