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Items: 12

1.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
2.

Hypertrophic cardiomyopathy

MedGen UID:
893691
Concept ID:
CN239543
Finding
3.

Contraction

MedGen UID:
685783
Concept ID:
C1140999
Pathologic Function
4.

Energy

MedGen UID:
603300
Concept ID:
C0424589
Finding
5.

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
6.

Tension

A feeling of mental or emotional strain or suspense. [from NCI]

MedGen UID:
452291
Concept ID:
C0233494
Mental or Behavioral Dysfunction
7.

Megalencephalic leukoencephalopathy with subcortical cysts 1

The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to the 98th percentile, usually several centimeters above it. Almost all individuals have epilepsy from an early age. Initial mental and motor development is normal in most cases. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Mental deterioration is late and mild. Severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their forties. An atypical improving phenotype has a similar initial presentation without mental or motor regression, followed by an improving clinical course: motor and cognitive functions improve or normalize; macrocephaly usually persists, but some children become normocephalic; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable with or without autism. [from GeneReviews]

MedGen UID:
347006
Concept ID:
C1858854
Congenital Abnormality; Disease or Syndrome
8.

Triggered by

In medicine, a specific event that starts a process or that causes a particular outcome. For example, chemotherapy, painful treatments, or the smells, sounds, and sights that go with them may trigger anxiety and fear in a patient who has cancer. In allergies, exposure to mold, pollen or dust may trigger sneezing, watery eyes, and coughing. [from NCI]

MedGen UID:
252950
Concept ID:
C1444748
Qualitative Concept
9.

Cardiomyopathy

Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including . - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
10.

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 GeneReviews]

MedGen UID:
183649
Concept ID:
C0949658
Disease or Syndrome
11.

Source

The originating point of the Content Item or record, including but not limited to archive import, Scan, fax, email, paper form. [from NCI_CareLex]

MedGen UID:
99076
Concept ID:
C0449416
Finding
12.

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. [from HPO]

MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
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