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Details
Link-It Detail - Disease - Arrhythmogenic Right Ventricular Dysplasia
Debug Stats
  • ### Total Build Time: 144 ms 29.958 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 416 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 451 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=2 ms Completed: 2 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 995 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=32 ms Completed: 32 ms rowSize= 5.391 KB
  • CONCEPT_RELATIONSHIPS gt=54 ms Completed: 54 ms rowSize= 9.429 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 11.868 KB
  • CONCEPT_XREFS gt=13 ms Completed: 13 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Arrhythmogenic Right Ventricular Dysplasia C0349788
ARVD
Definition (1)
A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (2)
img Heart Defects, Congenital C0018798
img Cardiomyopathies C0878544
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Heart Defects, Congenital C0018798
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430504img Heart Defects, Congenital C0018798
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Cardiomyopathies C0878544
Relationships (22)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 1
diso_​to_​diso : 13
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 20
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN148img genetic aspects C0017399
DISO_to_DISO91img Complication Aspects C1171258
DISO_to_PHEN72img genetic aspects C0017399
DISO_to_DISO64img Complication Aspects C1171258
DISO_to_DISO44img Tachycardia, Ventricular C0042514
DISO_to_PHYS33img Mutation C0026882
DISO_to_ANAT30img Myocardium C0027061
DISO_to_ANAT27img Desmosome C0011703
DISO_to_ANAT26img Heart Ventricle C0018827
DISO_to_DISO26img Tachycardia, Ventricular C0042514
DISO_to_DISO23img Death, Sudden, Cardiac C0085298
DISO_to_DISO21img Cardiomyopathies C0878544
DISO_to_CHEM19img Plakophilins C1527504
DISO_to_DISO19img Death, Sudden, Cardiac C0085298
DISO_to_ANAT16img Heart Ventricle C0018827
DISO_to_DISO16img Cardiomyopathies C0878544
DISO_to_PHYS14img Mutation C0026882
DISO_to_DISO12img Arrhythmias, Cardiac C0003811
DISO_to_DISO12img DYSFUNCTION, RIGHT VENTRICULAR C0242707
DISO_to_DISO12img Ventricular Dysfunction, Right C0242707
DISO_to_DISOpermuted_term_ofimg ARVD C0349788
DISO_to_DISOmapped_toimg KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY C1832600
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanISM2145501isthmin 2
img GENERIF, Score=1000, Pubmed Id: 15194193, UMLKSK CUI: C0349788
HumanTMEM4379188transmembrane protein 43
img GENERIF, Score=1000, Pubmed Id: 18313022, UMLKSK CUI: C0349788
HumanTP638626tumor protein p63
img GENERIF, Score=1000, Pubmed Id: 18603493, UMLKSK CUI: C0349788
HumanRYR26262ryanodine receptor 2 (cardiac)
img GENERIF, Score=937, Pubmed Id: 17558603, UMLKSK CUI: C0349788
HumanPKP25318plakophilin 2
img GENERIF, Score=1000, Pubmed Id: 16567567, UMLKSK CUI: C0349788
img GENERIF, Score=1000, Pubmed Id: 17521752, UMLKSK CUI: C0349788
img GENERIF, Score=1000, Pubmed Id: 16415378, UMLKSK CUI: C0349788
img GENERIF, Score=771, Pubmed Id: 16876743, UMLKSK CUI: C0349788
HumanJUP3728junction plakoglobin
img OMIM, Score=1000, UMLKSK CUI: C0349788
img GENERIF, Score=1000, Pubmed Id: 17924338, UMLKSK CUI: C0349788
HumanDSP1832desmoplakin
img GENERIF, Score=1000, Pubmed Id: 12373648, UMLKSK CUI: C0349788
HumanDSC21824desmocollin 2
img GENERIF, Score=1000, Pubmed Id: 17186466, UMLKSK CUI: C0349788
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0349788Arrhythmogenic Right Ventricular Dysplasia0self