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Details
Link-It Detail - Disease - Anus, Imperforate
Debug Stats
  • ### Total Build Time: 29 ms 42.667 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 380 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 466 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=4 ms Completed: 4 ms rowSize= 566 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.861 KB
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 12.821 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 24.178 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Anus, Imperforate C0003466
ANAL IMPERFORATION
Definition (1)
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Digestive System Abnormalities C0266015
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Digestive System Abnormalities C0266015
img Digestive System Diseases C0012242img Digestive System Abnormalities C02660153img Digestive System Abnormalities C0266015
Relationships (41)

Relation Types:
diso_​to_​anat : 8
diso_​to_​diso : 31
diso_​to_​phen : 2


Relationships:
none : 23
associated_​with : 1
is_​associated_​anatomic_​site_​of : 1
isa : 2
location_​of : 1
mapped_​to : 12
permuted_​term_​of : 1
Page Size
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  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO47img Abnormalities, Multiple C0000772
DISO_to_DISO46img Abnormalities, Multiple C0000772
DISO_to_DISO42img Complication Aspects C1171258
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_ANAT20img Anal Canal C0227411
DISO_to_ANAT20img Rectum C0034896
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_ANAT16img Anal Canal C0227411
DISO_to_DISO15img Fecal Incontinence C0015732
DISO_to_DISO14img Rectal Fistula C0034884
DISO_to_DISO13img COMPL POSTOP C0032787
DISO_to_DISO12img Congenital exomphalos C1306503
DISO_to_DISO12img Rectal Fistula C0034884
DISO_to_ANAT11img Rectum C0034896
DISO_to_ANAT9img Spine C0037949
DISO_to_DISO9img ABNORM UROGENITAL C0042063
DISO_to_DISO9img Esophagotracheal Fistula C0040588
DISO_to_DISO9img Fecal Incontinence C0015732
DISO_to_DISO9img Urogenital Abnormalities C0042063
DISO_to_ANAT8img Cloaca C0008987
DISO_to_DISO8img FISTULA, RECTOVAGINAL C0034895
DISO_to_DISO8img Fistula, Urinary C0042021
DISO_to_ANATlocation_ofimg Anus C0003461
DISO_to_ANATis_associated_anatomic_site_ofimg Digestive System C0012240
Genes (26)

Species:
human : 26
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanMKKS8195McKusick-Kaufman syndrome
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanWNT37473wingless-type MMTV integration site family, member 3
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanTBX36926T-box 3
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanSALL16299sal-like 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0003466
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanPITX25308paired-like homeodomain 2
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanNBN4683nibrin
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanMID14281midline 1 (Opitz/BBB syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanMNX13110motor neuron and pancreas homeobox 1
img OMIM, Score=1000, UMLKSK CUI: C0003466
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanHCCS3052holocytochrome c synthase
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanGATA12623GATA binding protein 1 (globin transcription factor 1)
img OMIM, Score=1000, UMLKSK CUI: C0003466
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C0003466
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003466Anus, Imperforate0self