• Alpha-thalassemia-myelodysplastic syndrome

    This form of alpha thalassemia is characterized by an association with the myelodysplastic syndrome (MDS) and the hemoglobin H disease.

  • Chylomicron retention 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

    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.

  • Carney complex

    The Carney complex describes the combination of multiple myxomas, increased pigmentation and hormonal regulatory disorders.

  • Gastrointestinaler Stromatumor

    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.

  • Acute myeloid leukemia

    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

    Achondrogenesis type IA is a subform of achondrogenesis that describes a lethal skeletal dysplasia with no endochondral ossification.

  • Abetalipoproteinemia

    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

    Central neurocytoma is a benign but often recurring brain tumor.

  • Yunis-Varon syndrome

    Yunis-Varon syndrome is a rare congenital skeletal dysplasia.

  • X-linked lissencephaly with abnormal genitalia

    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

    X-linked lymphoproliferative syndrome is a hereditary disease of the immune system that causes an inadequate immune response to EBV infection.

  • Wiskott-Aldrich syndrome

    Wiskott-Aldrich syndrome is an X-linked recessive inherited immune deficiency affecting almost only male patients.

  • Soft tissue sarcoma

    Soft tissue sarcomas are malignant neoplasms that arise from cells of the fatty tissue, muscle tissue, connective tissue, nerves or blood vessels.

  • Growth retardation due to IGF-1 deficiency

    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

    Von Willebrand syndrome (VWS) is a hereditary bleeding tendency that manifests in hemorrhagic diatheses.

  • Short rib-polydactyly syndrome, Verma-Naumoff type

    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

    Hepatic veno-occlusive disease refers to a disease of the liver underlying occlusion of the small hepatic veins.

  • Superior Mesenteric Vein Syndrome

    In the superior mesenteric vein syndrome, an atypical course of the superior mesenteric vein causes the duodenum to narrow.

  • Van der Woude syndrome

    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.

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