From HPO
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Primary dilated cardiomyopathy- MedGen UID:
- 2880
- •Concept ID:
- C0007193
- •
- Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Akinesia- MedGen UID:
- 43218
- •Concept ID:
- C0085623
- •
- Finding
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Arthrogryposis multiplex congenita- MedGen UID:
- 1830310
- •Concept ID:
- C5779613
- •
- Disease or Syndrome
Multiple congenital contractures in different body areas.
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
High myopia- MedGen UID:
- 78759
- •Concept ID:
- C0271183
- •
- Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Degenerative vitreoretinopathy- MedGen UID:
- 334763
- •Concept ID:
- C1843486
- •
- Disease or Syndrome
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system