Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCardiomyopathies (D009202)
..Starting node
..expandEndocardial Fibroelastosis (D004695)

       Child Nodes:
........expandEndocardial Fibroelastosis and Coarctation of Abdominal Aorta (C565592)
........expandHydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
........expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
........expandUlnar Agenesis and Endocardial Fibroelastosis (C564756)



 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandArrhythmogenic Right Ventricular Dysplasia (D019571) Child13
..expandAtaxia, Deafness, and Cardiomyopathy (C565932)
..expandAtrial Standstill (C563984)
..expandCardiac Lipidosis, Familial (C565884)
..expandCardiomyopathy Associated With Myopathy And Sudden Death (C565881)
..expandCardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..expandCardiomyopathy hypogonadism collagenoma syndrome (C535582)
..expandCardiomyopathy, Alcoholic (D002310)
..expandCardiomyopathy, Dilated (D002311) Child40
..expandCardiomyopathy, fatal fetal, due to myocardial calcification (C543241)
..expandCardiomyopathy, Hypertrophic (D002312) Child20
..expandCardiomyopathy, infantile histiocytoid (C535584)
..expandCardiomyopathy, Restrictive (D002313) Child3
..expandCardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
..expandCataract and cardiomyopathy (C538280)
..expandChagas Cardiomyopathy (D002598)
..expandDiabetic Cardiomyopathies (D058065)
..expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..expandEndocardial Fibroelastosis (D004695) Child9
..expandEndomyocardial Fibrosis (D004719)
..expandGlycogen Storage Disease Type IIb (D052120)
..expandHypertaurinuric Cardiomyopathy (C564157)
..expandKearns-Sayre Syndrome (D007625) Child1
..expandKeshan disease (C536166)
..expandMuscular Dystrophy, Cardiac Type (C563247)
..expandMyocardial Reperfusion Injury (D015428)
..expandMyocarditis (D009205)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..expandMyopathy, Myofibrillar, Desmin-Related (C563319)
..expandNajjar syndrome (C535580)
..expandRoifman syndrome (C535866)
..expandSarcoglycanopathies (D058088) Child3
..expandSystemic carnitine deficiency (C536778)
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3753
Name:Endocardial Fibroelastosis
Definition: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.
Alternative IDs:
ParentIDs:MESH:D009202
TreeNumbers:C14.280.238.281
Synonyms:Endocardial Fibroelastoses |Endomyocardial Fibroelastosis |Fibroelastoses, Endocardial |Fibroelastosis, Endocardial
Slim Mappings:Cardiovascular disease
Reference: MedGen: D004695
MeSH: D004695
OMIM: 305300;

Genes:
Phenotypes
Disease Causing ClinVar Variants