Elastoma, also known as Nevus elasticus or Weidman juvenile elastoma, is a condition primarily affecting the skin. Information about its underlying ca...

Elastosis perforans serpiginosa is a skin condition characterized by abnormal elastic fiber deposition that leads to distinctive, often serpiginous le...

Elliptocytosis 1 is a hereditary condition that affects the red blood cell membrane and is caused by mutations in the EPB41 gene. The condition is und...

Elliptocytosis 2 is a hereditary blood disorder characterized by the presence of abnormally shaped red blood cells due to a mutation in the SPTA1 gene...

Elliptocytosis 3 is a hematologic disorder that affects the shape of red blood cells, with a hallmark finding of elliptocytosis and, in some cases, a...

Ellis-van Creveld syndrome is a rare condition that affects skeletal development and the skin. People with this condition often have a small stature,...

ELOVL4-related maculopathy is a form of maculopathy caused by a variant in the ELOVL4 gene. This condition affects the central area of the retina, kno...

Elsahy-Waters syndrome is an extremely rare multisystem congenital anomaly syndrome characterized by distinctive facial, dental, skeletal, and genitou...

Emanuel syndrome is a genetic condition caused by the presence of an extra piece of chromosome 22. This extra chromosome leads to a variety of feature...

Embryonal carcinoma is a non-seminomatous malignant germ cell tumor that most commonly arises in the gonads, such as the testis or ovary, but can also...

Embryonal carcinoma of the central nervous system is a malignant tumor that arises within the brain and spinal cord. As a type of embryonal carcinoma,...

Embryonal extrahepatic bile duct rhabdomyosarcoma is a malignant tumor that arises from the extrahepatic bile ducts. This condition falls within the c...

Embryonal rhabdomyosarcoma (ERMS) is a variant of rhabdomyosarcoma characterized by primitive skeletal muscle differentiation at any stage of myogenes...

Embryonal tumor with multilayered rosettes is a rare and aggressive brain tumor that arises in the central nervous system. It is characterized by embr...

Emery-Dreifuss-like muscular dystrophy is a rare inherited muscle condition that mainly affects the muscles around the hips and shoulders (known as th...

Emery-Dreifuss muscular dystrophy (EDMD) is a condition that mainly affects the muscles and heart. It is characterized by gradual muscle weakening and...

Emery-Dreifuss muscular dystrophy 1, X-linked is a rare neuromuscular condition that is known by several names, including EDMD1, humeroperoneal neurom...

Emery-Dreifuss muscular dystrophy 2 is a condition that affects muscle strength and function. It is inherited in an autosomal dominant pattern, which...