Bernard-Soullier syndrome is a rare bleeding disorder underlying a deficiency of the von Willebrand factor receptor.
Apolipoprotein A-I deficiency is a metabolic disorder related to the lipoprotein and characterized by the holistic absence of the apolipoprotein.
Adenosine monophosphate deaminase deficiency is a metabolic disease of the muscles.
Aicardi-Goutières syndrome is a hereditary encephalopathy, characterized by an association with leukodystrophy, calcified basal ganglia and lymphocystosis of the cerebrospinal fluid.
Adrenocortical carcinoma is a rare malignant tumor located in the outermost layer of the adrenal glands. It can be either endocrine active or inactive.
Classic hair cell leukemia is a rare form of leukemia. It is based on abnormal B lymphocytes in the spleen, bone marrow and peripheral blood. The name refers to the abnormal form of lymphocytes having hair-like extensions.
Gastrointestinal stromal tumor is a rare mesenchymal tumor in the gastrointestinal tract. The GISTs account for only about 1-3% of all malignancies of the gastrointestinal tract.
Isolated ectopia lentis is a clinically very variable eye disease characterized by lens dislocation. So far, 90 cases have been described.
Acromicric dysplasia refers to a rare bone dysplasia with less than 60 cases described so far. Typical symptoms include dwarfism, facial dysmorphism and short limbs, hands and feet.
Autosomal recessive dopa-responsive dystonia is a rare neurometabolic disorder characterized by a broad spectrum of symptoms ranging from dystonia to infantile encephalopathy.
D-2-hydroxyglutaric aciduria is a form of 2-hydroxyglutaric aciduria, but is much rarer and is distinguished by the high concentration of D-2-hydroxyglutaric acid in plasma, urine and cerebrospinal fluid.
The autosomal dominant cutis laxa manifests with the typical symptoms of connective tissue including excessive, wrinkled skin and an additional involvement of the internal organs.
Congenital analbuminemia refers to the absence or severe reduction of circulating serum albumin.
The arterial tortuosity syndrome refers to a rare disease of the connective tissue, which in name leads to tortuous and elongated arteries.
This form of alpha thalassemia is characterized by an association with the myelodysplastic syndrome (MDS) and the hemoglobin H disease.
Chylomicron retention disease is a familial hypocholesterolemia and is characterized mainly by prosperity loss, vitamin E deficiency and hepatic complications.
Carnitine palmitoyltransferase II deficiency is a congenital lipid metabolism disorder which is divided into three forms, which are the myopathic, severe infantile and neonatal forms.
The Carney complex describes the combination of multiple myxomas, increased pigmentation and hormonal regulatory disorders.
El síndrome de 3M es una rara enfermedad autosómica recesiva, cuyas características estatura corta, golpeando la cabeza y forma de la cara, así como huesos estrechas y alargadas, las costillas y vértebras principal son más cortos.
Der gastrointestinale Stromatumor (GIST) ist ein seltener mesenchymaler Tumor des Magen-Darm-Traktes. Die GISTs machen nur ungefähr 1-3% aller Malignome des Magen-Darm-Traktes aus.