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Details
Link-It Detail - Disease - CURRARINO SYNDROME
Debug Stats
  • ### Total Build Time: 26 ms 17.043 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=20 ms Completed: 20 ms rowSize= 12.600 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.895 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CURRARINO SYNDROME C1531773
Relationships (34)

Relation Types:
diso_​to_​diso : 33
diso_​to_​gene : 1


Relationships:
alias_​of : 1
manifestation_​of : 30
related_​to : 3
Page Size
Current 25
  Page 1 of 2
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg ANAL IMPERFORATION C0003466
DISO_to_DISOmanifestation_ofimg Abdomen distended C0000731
DISO_to_DISOmanifestation_ofimg Anal Fistula C0205929
DISO_to_DISOmanifestation_ofimg Anorectal sinus C1867780
DISO_to_DISOmanifestation_ofimg Anorectal stricture C0156183
DISO_to_DISOmanifestation_ofimg Anterior sacral meningocele C1867776
DISO_to_DISOmanifestation_ofimg Bicornuate uterus C0266387
DISO_to_DISOmanifestation_ofimg Bifid sacrum (22%) C1867785
DISO_to_DISOalias_ofimg CURRARINO SYNDROME C1531773
DISO_to_DISOmanifestation_ofimg Caused by mutation in the homeobox-HB9 gene (HLXB9, 142994.0001) C3149851
DISO_to_DISOmanifestation_ofimg Chronic constipation C0401149
DISO_to_DISOmanifestation_ofimg Congenital septate vagina C0266411
DISO_to_DISOmanifestation_ofimg Currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies C1867788
DISO_to_DISOmanifestation_ofimg Cyst, enterogenous C0333000
DISO_to_DISOmanifestation_ofimg Developmental delay (microdeletion patients only) C1867777
DISO_to_DISOmanifestation_ofimg GASTROINTESTINAL OBSTRUCTION C0236124
DISO_to_DISOmanifestation_ofimg HORSESHOE KIDNEY C0221353
DISO_to_DISOmanifestation_ofimg Hemisacrum (S2-S5) (75%) C1867784
DISO_to_DISOmanifestation_ofimg Heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% X-ray changes only, 4% non-penetrant C1867787
DISO_to_DISOmanifestation_ofimg Neurogenic Urinary Bladder C0005697
DISO_to_DISOmanifestation_ofimg Perianal sepsis/abscess C1867781
DISO_to_DISOmanifestation_ofimg Presacral teratoma C1867782
DISO_to_DISOmanifestation_ofimg Preserved S1 vertebrae C1867783
DISO_to_DISOmanifestation_ofimg RECURRENT URINARY INFECTIONS C0262655
DISO_to_DISOmanifestation_ofimg REFLUX, VESICOURETERAL C0042580
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanMNX13110motor neuron and pancreas homeobox 1
img GENERIF, Score=1000, Pubmed Id: 18449898, UMLKSK CUI: C1531773
img OMIM, Score=1000, UMLKSK CUI: C1531773
img GENERIF, Score=734, Pubmed Id: 17612791, UMLKSK CUI: C1531773
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1531773CURRARINO SYNDROME0self