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Details
Link-It Detail - Disease - Acatalasia
Debug Stats
  • ### Total Build Time: 49 ms 13.204 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 327 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=12 ms Completed: 12 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 6.737 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 3.886 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acatalasia C0268419
Definition (1)
A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Peroxisomal Disorders C0282528
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Peroxisomal Disorders C0282528
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Peroxisomal Disorders C0282528
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Peroxisomal Disorders C0282528
Relationships (7)

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


Relationships:
none : 4
alias_​of : 1
associated_​with : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_CHEM5img CATALASE C0007367
DISO_to_CHEM4img CATALASE C0007367
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_CHEMassociated_withimg CATALASE C0007367
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOalias_ofimg Acatalasia C0268419
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268419Acatalasia0self