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Details
Link-It Detail - Disease - Pain Insensitivity, Congenital
Debug Stats
  • ### Total Build Time: 20 ms 9.829 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 504 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 1,012 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.850 KB
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 3.723 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pain Insensitivity, Congenital C0002768
Definition (1)
A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from nonnoxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Peripheral Nervous System Diseases C0031117
img Genetic Diseases, Inborn C0950123
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Peripheral Nervous System Diseases C0031117
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
Relationships (7)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 4
diso_​to_​phen : 2


Relationships:
none : 6
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_CHEM11img Sodium Channel C0037492
DISO_to_DISO9img HYPHIDROSIS C0020620
DISO_to_DISOpermuted_term_ofimg Congenital Pain Insensitivity C0002768
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002768Pain Insensitivity, Congenital0self