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1.

Hypertrophic cardiomyopathy

MedGen UID:
893691
Concept ID:
CN239543
Finding
2.

Cardiomyopathy

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. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
3.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
4.

ATP Hydrolysis

ATP Hydrolysis is the cleavage of a high-energy phosphate bond of adenosine triphosphate by the addition of water. The energy derived from hydrolysis of ATP is used to drive metabolic reactions including nucleic acid and protein synthesis, to move molecules against concentration gradients (active transport), and to produce mechanical motion (contraction of microfibrils and microtubules). [from NCI]

MedGen UID:
266945
Concept ID:
C1510699
Molecular Function
5.

Cardiomyopathy

A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. [from NCI]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
6.

Primary familial hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from GTR]

MedGen UID:
183649
Concept ID:
C0949658
Disease or Syndrome
7.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
8.

Hypertrophic cardiomyopathy

A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. [from NCI]

MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
9.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
10.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
11.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
12.

Subaortic stenosis

A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. [from HPO]

MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
13.

Disease, Secondary Myocardial

MedGen UID:
19916
Concept ID:
C0036529
Disease or Syndrome
14.

Idiopathic cardiomyopathy

A disease of the heart muscle or myocardium proper whose cause is unknown. [from NCI]

MedGen UID:
18634
Concept ID:
C0033141
Disease or Syndrome
15.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
16.

cardiac valvular disease

An abnormality of a cardiac valve. [from HPO]

MedGen UID:
5463
Concept ID:
C0018824
Disease or Syndrome
17.

Heart disease

A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
18.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
19.

Aortic valve stenosis

A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. [from MeSH]

MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
20.

Familial hypertrophic cardiomyopathy 4

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from GTR]

MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
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