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Details
Link-It Detail - Disease - Endocardial Fibroelastosis
Debug Stats
  • ### Total Build Time: 28 ms 19.109 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 383 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 669 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=5 ms Completed: 5 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 590 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.501 KB
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 9.995 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 4.100 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Endocardial Fibroelastosis C0014117
EFE
Definition (1)
A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Cardiomyopathies C0878544
Children (1)
img Isolated Noncompaction of the Ventricular Myocardium C2717907
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Cardiomyopathies C0878544
Relationships (22)

Relation Types:
diso_​to_​anat : 8
diso_​to_​diso : 14


Relationships:
none : 7
associated_​with : 2
classifies : 2
is_​associated_​anatomic_​site_​of : 4
isa : 2
location_​of : 1
mapped_​to : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO10img Heart Neoplasm C0018809
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_ANAT7img Mitral Valve C0026264
DISO_to_ANAT6img Papillary Muscles C0030352
DISO_to_DISO6img Cardiomyopathy, Dilated C0007193
DISO_to_ANAT4img Aortic Valve C0003501
DISO_to_ANATis_associated_anatomic_site_ofimg Cardiovascular System C0007226
DISO_to_ANATis_associated_anatomic_site_ofimg Chest C0817096
DISO_to_ANATlocation_ofimg Endocardium C0014124
DISO_to_ANATis_associated_anatomic_site_ofimg Heart C0018787
DISO_to_ANATis_associated_anatomic_site_ofimg Respiratory System C0035237
DISO_to_DISOclassifiesimg Cardiomyopathies C0878544
DISO_to_DISOmapped_toimg Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts C1833607
DISO_to_DISOisaimg Congenital endocardial fibroelastosis C0265876
DISO_to_DISOmapped_toimg EFE C0014117
DISO_to_DISOmapped_toimg EFE - Left atrial endocardial fibroelastosis C0344718
DISO_to_DISOisaimg EFE - Primary left ventricular endocardial fibroelastosis C0344913
DISO_to_DISOmapped_toimg EFE - Primary right ventricular endocardial fibroelastosis C0344894
DISO_to_DISOassociated_withimg Fibroelastoses C0016038
DISO_to_DISOclassifiesimg Peri-; endo-; and myocarditis; cardiomyopathy (except that caused by TB or STD) C0810001
DISO_to_DISOassociated_withimg Restrictive cardiomyopathy secondary to endocardial fibroelastosis C0264845
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTAZ6901tafazzin
img OMIM, Score=1000, UMLKSK CUI: C0014117
HumanSLC22A56584solute carrier family 22 (organic cation/carnitine transporter), member 5
img OMIM, Score=1000, UMLKSK CUI: C0014117
HumanMYH74625myosin, heavy chain 7, cardiac muscle, beta
img GENERIF, Score=1000, Pubmed Id: 17019812, UMLKSK CUI: C0014117
HumanGJA52702gap junction protein, alpha 5, 40kDa
img OMIM, Score=1000, UMLKSK CUI: C0014117
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014117Endocardial Fibroelastosis0self