Disease Directory

Duane retraction syndrome 2 is a type of Duane retraction syndrome that occurs due to a mutation in the CHN1 gene. Duane retraction syndrome is a cond...

Duane retraction syndrome type 3 is a disorder that affects eye movement. People with this condition have an eye or eyes that have difficulty moving i...

Duane retraction syndrome with congenital deafness is a rare neurologic condition that affects eye movement and hearing. People with this condition ex...

Duane syndrome type 1 is an eye movement disorder that is present at birth. People with this condition have trouble moving the affected eye(s) outward...

Duane-radial ray syndrome is a condition where people have several congenital differences that affect the eyes, ears, and arms. Most often, there is a...

Dubin-Johnson syndrome is a benign, inherited liver disorder. It is characterized by a chronic increase in mainly conjugated bilirubin, a substance pr...

Dubowitz syndrome is a rare congenital condition that affects growth and development. People with this syndrome often experience slower growth, leadin...

Duchenne muscular dystrophy is a neuromuscular disorder that primarily affects skeletal and cardiac muscles, leading to progressive muscle weakness an...

Dyggve-Melchior-Clausen disease is a rare skeletal disorder that belongs to a group known as spondyloepimetaphyseal dysplasias. This condition affects...

Dyggve-Melchior-Clausen syndrome, X-linked is a rare inherited condition. This form is described as the X-linked form of Dyggve-Melchior-Clausen disea...

EAST syndrome is a rare condition that gets its name from several of the symptoms seen in people with this syndrome: Epilepsy (seizures), Ataxia (prob...

EBV-positive T-cell lymphoproliferative disorder of childhood is a group of disorders linked to the Epstein-Barr virus. It affects children and is kno...

ECHS1-related paroxysmal dyskinesia is a rare condition that causes sudden episodes of abnormal movements known as dystonia. These episodes are brough...

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...

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...

ELANE-related neutropenia is a condition where people have low levels of neutrophils, a type of white blood cell that helps fight infections. This con...

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...