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Details
Link-It Detail - Disease - Diastematomyelia
Debug Stats
  • ### Total Build Time: 30 ms 10.349 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 330 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=11 ms Completed: 11 ms rowSize= 5.495 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 2.988 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Diastematomyelia C0011999
Definition (1)
A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.
Relationships (10)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 7


Relationships:
associated_​with : 2
classifies : 2
is_​associated_​anatomic_​site_​of : 1
location_​of : 2
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATlocation_ofimg Skeletal system C0037253
DISO_to_ANATlocation_ofimg Spinal Cord C0037925
DISO_to_DISOassociated_withimg Congenital failure of fusion C0332915
DISO_to_DISOassociated_withimg Congenital hernia C0235832
DISO_to_DISOclassifiesimg Congenital neurologic anomalies C0497552
DISO_to_DISOpermuted_term_ofimg Diastematomyelia C0011999
DISO_to_DISOmapped_toimg Faun tail syndrome C0266509
DISO_to_DISOmapped_toimg Hydromyelia C0152444
DISO_to_DISOclassifiesimg Other congenital anomalies of nervous system C0158538
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanVANGL181839VANGL planar cell polarity protein 1
img OMIM, Score=1000, UMLKSK CUI: C0011999
HumanT6862T, brachyury homolog (mouse)
img OMIM, Score=1000, UMLKSK CUI: C0011999
HumanCCL26347chemokine (C-C motif) ligand 2
img OMIM, Score=1000, UMLKSK CUI: C0011999
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0011999Diastematomyelia0self