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Details
Link-It Detail - Disease - Angioedemas, Hereditary
Debug Stats
  • ### Total Build Time: 51 ms 23.782 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 323 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=6 ms Completed: 6 ms rowSize= 988 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1,022 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 5.355 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 6.047 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 8.397 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Angioedemas, Hereditary C0019243
Definition (1)
Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Angioedema C0002994
img Genetic Diseases, Inborn C0950123
Children (2)
img Hereditary Angioedema Type III C1857728
img Hereditary Angioedema Types I and II C2717905
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Vascular Diseases C00423734img Angioedema C0002994
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Angioedema C0002994
img Immune System Diseases C0021053img Hypersensitivity C00205176img Angioedema C0002994
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
Relationships (12)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 7
diso_​to_​phen : 1


Relationships:
none : 6
isa : 4
permuted_​term_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM73img Complement C1 Inhibitor Protein C0540301
DISO_to_PHEN63img genetic aspects C0017399
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_CHEM34img Complement C1 Inactivator Proteins C0009500
DISO_to_CHEM33img Bradykinin C0006100
DISO_to_ANAT25img In Blood C0005768
DISO_to_DISOisaimg Acquired C1 esterase inhibitor deficiency C0413236
DISO_to_DISOuseimg Angioedema C0002994
DISO_to_DISOisaimg Angioedema, Hereditary, Types I and II C2717905
DISO_to_DISOpermuted_term_ofimg Angioedemas, Hereditary C0019243
DISO_to_DISOisaimg C1 esterase inhibitor deficiency - type 1 C0398775
DISO_to_DISOisaimg C1 esterase inhibitor deficiency - type 2 C0398776
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanF122161coagulation factor XII (Hageman factor)
img GENERIF, Score=1000, Pubmed Id: 17825897, UMLKSK CUI: C0019243
HumanSERPING1710serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
img GAD, Score=862, Pubmed Id: 1459574, UMLKSK CUI: C0019243
img GENERIF, Score=1000, Pubmed Id: 18586324, UMLKSK CUI: C0019243
img GENERIF, Score=1000, Pubmed Id: 15596403, UMLKSK CUI: C0019243
img GENERIF, Score=1000, Pubmed Id: 17976427, UMLKSK CUI: C0019243
img GENERIF, Score=1000, Pubmed Id: 15596402, UMLKSK CUI: C0019243
img GENERIF, Score=1000, Pubmed Id: 18035804, UMLKSK CUI: C0019243
img GENERIF, Score=1000, Pubmed Id: 11933207, UMLKSK CUI: C0019243
img OMIM, Score=1000, UMLKSK CUI: C0019243
HumanBDKRB2624bradykinin receptor B2
img GENERIF, Score=1000, Pubmed Id: 12039525, UMLKSK CUI: C0019243
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0019243Angioedemas, Hereditary0self