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Details
Link-It Detail - Disease - Caudal Regression Syndrome
Debug Stats
  • ### Total Build Time: 3 ms 6.840 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 263 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=0 Completed: 0 ms rowSize= 1.993 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 3.018 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Caudal Regression Syndrome C0300948
Definition (1)
A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine.
Relationships (3)

Relation Types:
diso_​to_​diso : 3


Relationships:
isa : 2
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Lumbosacral agenesis C0431415
DISO_to_DISOrelated_toimg SACRAL DEFECT WITH ANTERIOR MENINGOCELE C1838568
DISO_to_DISOisaimg Sacral dysgenesis C0431414
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanVANGL181839VANGL planar cell polarity protein 1
img OMIM, Score=1000, UMLKSK CUI: C0300948
HumanT6862T, brachyury homolog (mouse)
img OMIM, Score=1000, UMLKSK CUI: C0300948
HumanCCL26347chemokine (C-C motif) ligand 2
img OMIM, Score=1000, UMLKSK CUI: C0300948
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0300948Caudal Regression Syndrome0self