Disease Directory

Ehlers-Danlos syndrome, spondylodysplastic type, 1 is a rare disorder that is part of the broader group of Ehlers-Danlos syndromes. It is known by a n...

Ehlers-Danlos syndrome, spondylodysplastic type, 2 is a rare inherited condition that is part of the Ehlers-Danlos syndromes. It is characterized by f...

Ehlers-Danlos syndrome, vascular type is an inherited disorder that affects the connective tissue in the body. It is marked by distinct facial feature...

Ehlers-Danlos syndrome, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome. It is characterized by spontaneous dissection of medium-s...

Ehlers-Danlos/osteogenesis imperfecta syndrome is a rare condition that shows features from both Ehlers-Danlos syndrome (EDS) and osteogenesis imperfe...

Eiken syndrome is a rare skeletal dysplasia that affects bone development. It is marked by multiple epiphyseal dysplasia and extremely retarded ossifi...

Eisenmenger syndrome is a form of pulmonary arterial hypertension (PAH) that is associated with unoperated congenital heart disease. It involves heart...

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

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...

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...

Emery-Dreifuss muscular dystrophy 3, autosomal recessive is a genetic condition where changes in the LMNA gene cause the condition to occur. It is inh...

Emery-Dreifuss muscular dystrophy 4, autosomal dominant is a type of muscular dystrophy that is passed down in families. This condition is caused by a...

Emery-Dreifuss muscular dystrophy 5, autosomal dominant is a rare condition caused by a mutation in the SYNE2 gene. This condition is inherited in an...

Emery-Dreifuss muscular dystrophy 6, X-linked is a rare disease. Detailed information about this condition is currently limited in medical literature.

Emery-Dreifuss muscular dystrophy 7, autosomal dominant is a type of muscle disease that is passed down in families. It is caused by a mutation in the...

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-Nelson syndrome is a rare condition with limited information available. It is also known by several synonyms, including 'hand and foot deformity...