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GATACA
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Details
Link-It Detail - Disease - ACROCEPHALY
Debug Stats
  • ### Total Build Time: 78 ms 9.086 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 320 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 208 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=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=50 ms Completed: 50 ms rowSize= 3.490 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 3.864 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ACROCEPHALY C0030044
Definition (1)
Premature closing of the lambdoid and coronal sutures.
Relationships (6)

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


Relationships:
associated_​with : 2
location_​of : 3
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Bone structure of cranium C0037303
DISO_to_ANATlocation_ofimg Structure of coronal suture of skull C0224527
DISO_to_ANATlocation_ofimg Structure of lambdoid suture of skull C0224528
DISO_to_DISOassociated_withimg Abnormally long growth C0332897
DISO_to_DISOassociated_withimg Closure, premature C0332877
DISO_to_DISOrelated_toimg Craniosynostoses C0010278
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanATP6V0A223545ATPase, H+ transporting, lysosomal V0 subunit a2
img OMIM, Score=833, UMLKSK CUI: C0030044
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C0030044
HumanSOX96662SRY (sex determining region Y)-box 9
img OMIM, Score=1000, UMLKSK CUI: C0030044
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0030044
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0030044ACROCEPHALY0self