From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
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.
Small vessel vasculitis- MedGen UID:
- 868710
- •Concept ID:
- C4023113
- •
- Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Cystic acne- MedGen UID:
- 507614
- •Concept ID:
- C0010666
- •
- Disease or Syndrome
A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.
Panniculitis- MedGen UID:
- 45301
- •Concept ID:
- C0030326
- •
- Disease or Syndrome
Inflammation of subcutaneous adipose tissue.
Acne inversa- MedGen UID:
- 57993
- •Concept ID:
- C0162836
- •
- Disease or Syndrome
A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.
Increased circulating interleukin 6 concentration- MedGen UID:
- 901461
- •Concept ID:
- C4280771
- •
- Finding
The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Erythema- MedGen UID:
- 11999
- •Concept ID:
- C0041834
- •
- Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Pyoderma gangrenosum- MedGen UID:
- 43224
- •Concept ID:
- C0085652
- •
- Disease or Syndrome
A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the immune system
- Abnormality of the integument
- Constitutional symptom