EDICT syndrome is a very rare eye disorder that affects several parts of the eye. People with this condition can have early-onset or congenital catara...

Edinburgh malformation syndrome is a rare genetic condition that affects multiple parts of the body. People with this condition are born with several...

EEC syndrome is a genetic developmental disorder that primarily affects the arms, skin, and face. It is characterized by ectrodactyly (missing or unus...

EEM syndrome is a rare disorder characterized by a combination of ectodermal dysplasia, ectrodactyly, and macular dystrophy. It has been described in...

EGF-related primary hypomagnesemia with intellectual disability is a rare condition recognized by international databases such as Orphanet and GARD. W...

EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition is a hereditary condition that predisposes individuals to an increased...

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

Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders primarily affecting the skin, joints, and other connective ti...

Ehlers-Danlos syndrome, arthrochalasia type is an inherited connective tissue disorder caused by defects in collagen, a protein important for normal t...

Ehlers-Danlos syndrome, arthrochalasia type, 2 (also known as EDS 7B or EDS VIIB) is a rare inherited connective tissue disorder. Although detailed in...

Ehlers-Danlos syndrome, autosomal dominant, type unspecified is a rare condition that is not fully detailed in the current literature. It is also know...

Ehlers-Danlos syndrome, Beasley-Cohen type is a rare condition that is part of the broader group of Ehlers-Danlos syndromes. It is also known by other...

Ehlers-Danlos syndrome, cardiac valvular type is a genetic condition that affects the connective tissues in the body. This form of the syndrome is mar...

Ehlers-Danlos syndrome, classic-like, 2 is a rare genetic disorder that affects the body’s connective tissue. Although a detailed definition is not av...

Ehlers-Danlos syndrome, classic-like, 3 is a rare condition that affects connective tissues in the body. Although detailed information about the condi...

Ehlers-Danlos syndrome, classic type is a connective tissue condition characterized by highly elastic and fragile skin accompanied by widened, atrophi...

Ehlers-Danlos syndrome, classic type, 1 is a condition caused by a mutation in the COL5A1 gene. This mutation affects the body’s ability to produce no...

Ehlers-Danlos syndrome, classic type, 2 is a form of Ehlers-Danlos syndrome caused by a mutation in the COL5A2 gene. People with this condition have a...

Ehlers-Danlos syndrome, dermatosparaxis type is a form of Ehlers-Danlos syndrome that affects the skin. This condition is marked by extreme skin fragi...

Information about this condition is currently limited. Ehlers-Danlos syndrome due to tenascin-X deficiency is a rare disorder associated with changes...