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Details
Link-It Detail - Disease - Cryopyrin-Associated Periodic Syndromes
Debug Stats
  • ### Total Build Time: 22 ms 11.773 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 376 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 381 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 572 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 4.202 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 4.838 KB
  • CONCEPT_GENES gt=0 Completed: 0 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.173 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cryopyrin-Associated Periodic Syndromes C2316212
Definition (1)
A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hereditary Autoinflammatory Diseases C0751422
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Hereditary Autoinflammatory Diseases C0751422
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Hereditary Autoinflammatory Diseases C0751422
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Autoinflammatory Diseases C0751422
Relationships (9)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 5
diso_​to_​phen : 1


Relationships:
none : 4
isa : 3
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_CHEM14img Antibodies, Monoclonal C0003250
DISO_to_CHEM14img Carrier Protein C0007292
DISO_to_CHEM11img Interleukin-1 beta C0021753
DISO_to_DISOisaimg Chronic Infantile Neurological, Cutaneous, and Articular Syndrome C0409818
DISO_to_DISOmapped_toimg Cold Hypersensitivity C3489856
DISO_to_DISOpermuted_term_ofimg Cryopyrin Associated Periodic Syndromes C2316212
DISO_to_DISOisaimg Familial cold urticaria C0343068
DISO_to_DISOisaimg Muckle-Wells Syndrome C0268390
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C2316212Cryopyrin-Associated Periodic Syndromes0self