Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis. It is a multisystem disorder that causes bone pain, exophthalmos, diabetes insipidus, damage to the kidneys and central nervous system and/or cardiovascular symptoms.
Epidermolysis bullosa, also called butterfly skin or butterfly disease, refers to a genetic dermatological disease, with blistering of the skin or mucous membranes due to skin fragility.
Epidermodysplasia verruciformis is a rare form of genodermatosis, associated with chronic HPV infection, which results in polymorphic skin lesions and increases the risk of skin cancer.
Eosinophilic gastroenteritis describes the occurrence of gastrointestinal symptoms with eosinophilic infiltration of one or more areas of the digestive tract without systematic involvement.
Eosinophilic fasciitis is characterized by symmetric, painful inflammation, swelling and skin indurations of the arms and legs.
Enchondromatosis, also known as Ollier's disease, is the asymmetric distribution of multiple enchondromas.
Ellis van Crefeld syndrome (EVC) describes ectodermal and chondral dysplasia characterized by dwarfism, polydactyly, short ribs, hematopoiesis, and ectodermal defects.
Ovarian cancer is the second most common malignancy of the female reproductive system.
EEM syndrome is a combination of malformations that includes ectodermal dysplasia, ectrodactyly, and vision loss due to macular dystrophy.
The EEC syndrome is a genetic disease characterized mainly by ectodactyly, syndactyly, oro-facial clefts and various anomalies of ectodermal structures.
True hermanaphroditism is characterized by the presence of both ovarian and testicular tissue.
The Ebstein anomaly describes a congenital heart defect characterized by a twisted displacement of the tricuspid valve leaflets that cause it to reach into the right ventricle.
EHF is a viral infection that is mainly transmitted by fruit bats and has as a leading symptom very high fever, which can lead to coma.
Dyskeratosis congenita is a multiple organ system hereditary disease typically found on skin and mucous membranes with the symptoms of abnormal skin pigmentation, nail dystrophy and leukoplakia. Dyskeratosis congenita is heterogeneous.
Duodenal stenosis is usually a congenital disorder with stenosis of the lumen of the duodenum, but it can also occur as an acquired disease.
The duodenal atresia describes a congenital developmental disorder in which, due to a lack of recanalization of the duodenal canal in the embryonic period, the lumen of the duodenum is not continuous.
Dubowitz syndrome is an autosomal recessive hereditary disease first described in 1965.
Dravet Syndrome is an epileptic encephalopathy that occurs in otherwise healthy infants.
Dorfman-Chanarin-Syndrom describes an autosomal recessive metabolic disease that causes disorders in the storage of triacylglycerides. These are mainly stored in the leucocytes, fibroblasts, muscles and the liver.
DOOR syndrome describes the combination of deafness, bone deformities, nail dystrophy and mental retardation. Some patients additionally suffer from epilepsy.