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Endocardial fibroelastosis and coarctation of abdominal aorta

MedGen UID:
341665
Concept ID:
C1856971
Disease or Syndrome
Synonym: Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
 
Monarch Initiative: MONDO:0009170
OMIM®: 226100

Clinical features

From HPO
Endocardial fibroelastosis
MedGen UID:
4041
Concept ID:
C0014117
Disease or Syndrome
Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Coarctation of abdominal aorta
MedGen UID:
870806
Concept ID:
C4025263
Anatomical Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.

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