Disease Directory

Autosomal recessive congenital ichthyosis 1 is a genetic skin condition caused by mutations in the TGM1 gene, which is essential for creating the skin...

Autosomal recessive congenital ichthyosis 10 is a genetic skin disorder characterized by widespread scaling and red, inflamed skin noted from birth. T...

Autosomal recessive congenital ichthyosis 11 is an ultra-rare condition that primarily affects the skin and hair, with additional ocular and dental in...

Autosomal recessive congenital ichthyosis 2 is a genetic skin condition characterized by dry, thickened, and scaly skin that is typically present from...

Autosomal recessive congenital ichthyosis 3 is a skin condition present at birth characterized by abnormal skin scaling and impaired skin barrier func...

Autosomal recessive congenital ichthyosis 4A is a skin disorder characterized by abnormal scaling that is present from birth. It is caused by mutation...

Autosomal recessive congenital ichthyosis 4B, also known as Harlequin ichthyosis, is the most severe form of autosomal recessive congenital ichthyosis...

Autosomal recessive congenital ichthyosis 5 is a skin disorder that presents at birth with abnormal scaling and thickening of the skin. This condition...

Autosomal recessive congenital ichthyosis 6 is a skin disorder characterized by widespread scaling and thickening of the skin that is present from bir...

Autosomal recessive congenital ichthyosis 7 (ARCI7) is characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis,...

Autosomal recessive congenital ichthyosis 8 is a skin disorder characterized by abnormal scaling and thickening of the skin. It is caused by mutations...

Autosomal recessive congenital ichthyosis 9 is a disorder affecting the skin, characterized by abnormal scaling and thickening. The condition is cause...

Autosomal recessive cutis laxa type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited...

autosomal recessive cutis laxa type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited...

autosomal recessive cutis laxa type 2, classic type is an extremely rare condition. Because few cases have been documented, detailed clinical informat...

Autosomal recessive cutis laxa type 2A is a connective-tissue disorder that affects the skin, joints, and several internal systems. It arises from cha...

Autosomal recessive cutis laxa type 2B is a very rare inherited disorder that primarily affects the skin, connective tissue, and overall growth and de...

Autosomal recessive cutis laxa type 2C is a connective tissue disorder that affects the skin and cardiovascular system, typically presenting early in...

Autosomal recessive cutis laxa type 2D is a multisystem condition characterized by abnormal skin laxity, neurological involvement, and cardiovascular...

Autosomal recessive degenerative and progressive cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed cl...