Cholangiocarcinoma (CCA) is an epithelial neoplasm that spreads in the bile ducts / bile duct mucosa. It can occur both inside and outside the liver. As a rare disease, it affects only around 3% of all cancers in the digestive tract worldwide, but it is the second most common tumor of the liver.
Permanent neonatal diabetes mellitus is a form of diabetes that manifests in the first 6 months of life.
Dermatofibrosarcoma protuberans is a soft tissue sarcoma that develops in the dermis. It is rarely malignant and metastases occur in only a few cases.
Cystinosis is a rare metabolic disease that causes deposits of cystine in various organs. These are caused by a defective transport of cystine.
Cockayne Syndrome is a progressive infantile dystrophy syndrome. The most important symptoms include dwarfism, neurological deficits and mental retardation.
Hemophilia A is a hereditary disease, in which the blood coagulation is disturbed due to a lack of coagulation factor VIII.
Oculodentodigital dysplasia is characterized by neurological and craniofacial symptoms, as well as malformed limbs and eyes.
Donnai-Barrow syndrome is a disease with multiple malformations, which is inherited as an autosomal recessive trait.
Acroosteolysis dominant type is a rare connective tissue disease and belongs to a group of several osteolytic diseases.
Bowen-Conradi syndrome is a fatal hereditary disorder of ribosome biogenesis.
Borjeson-Forssman-Lehman syndrome is an X-linked recessive disorder with characteristic symptoms such as mental retardation, torsal obesity, hypogonadism, and specific facial features.
Cutis marmorata teleangiectatica congenital is a vascular anomaly that leads to various dermatological symptoms.
The systemic capillary leak syndrome describes a rare systemic disease caused by increased capillary permeability.
CACH syndrome (childhood ataxia with central nervous system hypomyelination) is a leukoencephalopathy that manifests in childhood.
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.