Disease Directory

Dyskeratosis congenita, autosomal dominant 2 is a multisystem disorder linked to abnormalities in telomere maintenance caused by changes in the TERT g...

Dyskeratosis congenita, autosomal dominant 3 is a multi-system condition caused by alterations in the TINF2 gene, which plays a critical role in telom...

dyskeratosis congenita, autosomal dominant 4 (also known as DKCA4) is a condition that affects multiple organ systems, although specific details about...

Dyskeratosis congenita, autosomal dominant 6 is a genetic condition affecting multiple systems, with its biological basis linked to changes in the ACD...

Dyskeratosis congenita, autosomal recessive 1 is an inherited condition marked by distinctive skin changes and blood abnormalities. Individuals typica...

Dyskeratosis congenita, autosomal recessive 2 is a multisystem condition that primarily impacts the skin, nail structures, bone marrow, and other orga...

Dyskeratosis congenita, autosomal recessive 3 is an inherited condition primarily affecting the skin, nails, oral mucosa, and bone marrow, with a pred...

Dyskeratosis congenita, autosomal recessive 5 is a multi-system condition that primarily affects neurodevelopment and other organ systems. It is linke...

Dyskeratosis congenita, autosomal recessive 6 is a rare inherited disorder caused by mutations in the PARN gene. This condition affects multiple organ...

Dyskeratosis congenita, autosomal recessive 7 is a condition that has been recognized based on clinical observations, although many details about its...

dyskeratosis congenita, autosomal recessive 8 is a multisystem condition that primarily affects hematologic function, immune regulation, and developme...

Dyskeratosis congenita, digenic is a multi-system condition that primarily affects the skin, hair, and immune system, with some individuals also exper...

Dysosteosclerosis is a rare skeletal dysplasia characterized by progressive hardening of the bones and the flattening of vertebral bodies. The disorde...

Dysostosis encompasses a group of disorders characterized by skeletal abnormalities, which may affect individual bones or groups of bones. Genetic fac...