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Details
Link-It Detail - Disease - Cardiomyopathy, Restrictive
Debug Stats
  • ### Total Build Time: 62 ms 28.253 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 408 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 305 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=3 ms Completed: 3 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.501 KB
  • CONCEPT_RELATIONSHIPS gt=30 ms Completed: 30 ms rowSize= 12.892 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 11.245 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Cardiomyopathy, Restrictive C0007196
Restrictive cardiomyopathy
Definition (1)
A disorder characterized by an inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and loses its flexibility.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Cardiomyopathies C0878544
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Cardiomyopathies C0878544
Relationships (30)

Relation Types:
diso_​to_​anat : 5
diso_​to_​diso : 22
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 14
clinically_​similar : 1
is_​associated_​anatomic_​site_​of : 4
isa : 10
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN33img genetic aspects C0017399
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_DISO24img CONSTRICTIVE PERICARDITIS C0031048
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_DISO14img CONSTRICTIVE PERICARDITIS C0031048
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_DISO14img Heart Failure C0018801
DISO_to_DISO13img Amyloidosis C0002726
DISO_to_PHYS13img Mutation C0026882
DISO_to_DISO12img Cardiomyopathy, Hypertrophic C0007194
DISO_to_DISO11img Amyloidosis C0002726
DISO_to_DISO9img Cardiomyopathy, Dilated C0007193
DISO_to_ANAT8img Myocardium C0027061
DISO_to_DISO8img Cardiomyopathy, Hypertrophic C0007194
DISO_to_ANATis_associated_anatomic_site_ofimg Cardiovascular System C0007226
DISO_to_ANATis_associated_anatomic_site_ofimg Chest C0817096
DISO_to_ANATis_associated_anatomic_site_ofimg Heart C0018787
DISO_to_ANATis_associated_anatomic_site_ofimg Respiratory System C0035237
DISO_to_DISOclinically_similarimg CARDIOMEGALY, IDIOPATHIC C0033141
DISO_to_DISOisaimg Canine restrictive cardiomyopathy C0685101
DISO_to_DISOpermuted_term_ofimg Cardiomyopathy, Restrictive C0007196
DISO_to_DISOisaimg Constrictive endocarditis C0264834
DISO_to_DISOisaimg Endocarditis, Loeffler C0206143
DISO_to_DISOisaimg Endomyocardial Fibrosis C0553980
DISO_to_DISOisaimg Familial restrictive cardiomyopathy (disorder) C0340429
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanXYLT264132xylosyltransferase II
img OMIM, Score=1000, UMLKSK CUI: C0007196
HumanXYLT164131xylosyltransferase I
img OMIM, Score=1000, UMLKSK CUI: C0007196
HumanDHS10774dehydrated hereditary stomatocytosis
img OMIM, Score=1000, UMLKSK CUI: C0007196
HumanTNNT27139troponin T type 2 (cardiac)
img GENERIF, Score=1000, Pubmed Id: 16651346, UMLKSK CUI: C0007196
HumanTNNI37137troponin I type 3 (cardiac)
img OMIM, Score=1000, UMLKSK CUI: C0007196
img GENERIF, Score=1000, Pubmed Id: 15961398, UMLKSK CUI: C0007196
img GENERIF, Score=1000, Pubmed Id: 16288990, UMLKSK CUI: C0007196
HumanPDGFRA5156platelet-derived growth factor receptor, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0007196
HumanMYH74625myosin, heavy chain 7, cardiac muscle, beta
img GENERIF, Score=1000, Pubmed Id: 18380764, UMLKSK CUI: C0007196
HumanMYBPC34607myosin binding protein C, cardiac
img GENERIF, Score=1000, Pubmed Id: 16651346, UMLKSK CUI: C0007196
HumanDES1674desmin
img GENERIF, Score=1000, Pubmed Id: 15759133, UMLKSK CUI: C0007196
HumanABCC6368ATP-binding cassette, sub-family C (CFTR/MRP), member 6
img OMIM, Score=1000, UMLKSK CUI: C0007196
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0007196Cardiomyopathy, Restrictive0self