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Details
Link-It Detail - Disease - Adair-Dighton syndrome
Debug Stats
  • ### Total Build Time: 8 ms 4.576 KB
  • CONCEPT_NAME gt=2 ms Completed: 1 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 335 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.585 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Adair-Dighton syndrome C0023931
Definition (1)
The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanCOL1A21278collagen, type I, alpha 2
img GENERIF, Score=734, Pubmed Id: 17875077, UMLKSK CUI: C0023931
HumanCOL1A11277collagen, type I, alpha 1
img GENERIF, Score=734, Pubmed Id: 17875077, UMLKSK CUI: C0023931
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023931Adair-Dighton syndrome0self