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List of articles in "Disease" category - Page 305

DNA repair-deficiency disorder

A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.DNA repair defects can cause both an accelerated aging disease and an increased risk of cancer.


Stenosis of uterine cervix

The word stenosis refers to any passage in the body that is more narrow than it should typically be for example a narrowed blood vessel (aortic stenosis for instance) or […]


49 XXXXY syndrome

49 XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality; its frequency is approximately 1 out of 85000 to 100000 males.


Hypercalciuria

Hypercalciuria or hypercalcinuria is the condition of elevated calcium in the urine. Chronic hypercalcinuria may lead to impairment of renal function nephrocalcinosis and renal insufficiency. Patients with hypercalciuria have kidneys […]


Sprengel’s deformity

Sprengel’s deformity (also known as High scapula or Congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back […]


N-Acetylglutamate synthase deficiency

N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder.


Ego-dystonic sexual orientation

Ego-dystonic sexual orientation is an ego-dystonic mental disorder characterized by having a sexual orientation or an attraction that is at odds with one’s idealized self-image causing anxiety and a desire […]


Gender identity disorder in children

Gender identity disorder in children (GIDC) is the formal diagnosis used by psychologists and physicians to describe children who experience significant gender dysphoria (discontent with their biological sex and/or assigned […]


Autosomal dominant hypophosphatemic rickets

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets) bone pain and tooth abscesses. […]


Polymelia

Polymelia (from Greek πολυ- = many plus μέλος (plural μέλεα) = limb) is a birth defect involving limbs (a type of dysmelia) in which the affected individual has more than […]


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