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.
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.
The term "acute myeloid leukemia" refers to a whole group of malignant haematological diseases with similar morphology, a disseminated clonal proliferation of immature precursors of myelopoiesis.
Achondrogenesis type IA is a subform of achondrogenesis that describes a lethal skeletal dysplasia with no endochondral ossification.
Abetalipoproteinemia describes a severe form of hypobetalipoproteinemia and is characterized by persistently low levels of apolipoprotein B and LDL cholesterol, malabsorption, hepatomegaly and growth retardation, as well as neurological and neuromuscular disorders.
Central neurocytoma is a benign but often recurring brain tumor.
Yunis-Varon syndrome is a rare congenital skeletal dysplasia.
X-linked lissencephaly with abnormal genitalia (also XLAG syndrome) is an X-linked lissencephaly with abnormal genitalia. It is a severe neurological condition that affects only men, leading to severe epilepsy and dysfunction of the hypothalamus.
X-linked lymphoproliferative syndrome is a hereditary disease of the immune system that causes an inadequate immune response to EBV infection.
Wiskott-Aldrich syndrome is an X-linked recessive inherited immune deficiency affecting almost only male patients.
Soft tissue sarcomas are malignant neoplasms that arise from cells of the fatty tissue, muscle tissue, connective tissue, nerves or blood vessels.
The growth delay due to IGF-1 (insulin-like growth factor I) deficiency is characterized by a combination of pre- and postnatal growth retardation, sensorineural deafness and reduced intelligence.
Von Willebrand syndrome (VWS) is a hereditary bleeding tendency that manifests in hemorrhagic diatheses.
The short rib-polydactyly syndrome, Verma-Naumoff type, is a lethal disease that results in the development of shortened ribs and concomitant with underdevelopment of the lungs.
Hepatic veno-occlusive disease refers to a disease of the liver underlying occlusion of the small hepatic veins.
In the superior mesenteric vein syndrome, an atypical course of the superior mesenteric vein causes the duodenum to narrow.
Van der Woude syndrome describes a disease involving the combination of the lower lip sine and a cleft lip, cleft palate or the combination of the both.