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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cardiomyopathy +     
alcoholic cardiomyopathy  
Ataxia, Deafness, and Cardiomyopathy 
Atrial Dilation and Standstill +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Chagas Cardiomyopathy  
Danon disease  
Diabetic Cardiomyopathies  
Early-Onset Myopathy with Fatal Cardiomyopathy  
endocardial fibroelastosis +   
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.
endocarditis +  
endocardium cancer 
endomyocardial fibrosis  
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Hypertaurinuric Cardiomyopathy 
intrinsic cardiomyopathy +   
Kearns-Sayre syndrome  
Keshan disease  
linear skin defects with multiple congenital anomalies 3  
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
Muscular Dystrophy, Cardiac Type 
Myocardial Reperfusion Injury  
myocarditis +   
myofibrillar myopathy 2  
Roifman Syndrome  
Sengers syndrome  
systemic primary carnitine deficiency disease  
Uruguay Faciocardiomusculoskeletal Syndrome  

Synonyms
Exact Synonyms: elastomyofibrosis ;   endocardial fibroelastoses ;   endomyocardial fibroelastosis
Primary IDs: MESH:D004695
Alternate IDs: OMIM:226000 ;   RDO:0001192
Xrefs: GARD:2121 ;   GARD:6336 ;   ICD10CM:I42.4 ;   ICD9CM:425.3 ;   NCI:C98922
Definition Sources: http://en.wikipedia.org/wiki/Endocardial_fibroelastosis "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract "DO", MESH:D004695

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.