Disease Directory

Diamond-Blackfan anemia 5 is a rare blood disorder caused by a mutation in the RPL35A gene. It is a type of Diamond-Blackfan anemia where the mutation...

Diamond-Blackfan anemia 6 is a rare type of Diamond-Blackfan anemia. In this condition, people have a mutation in the RPL5 gene which affects the prod...

Diamond-Blackfan anemia 7 is a rare type of Diamond-Blackfan anemia that occurs due to a mutation in the RPL11 gene. This condition is one of several...

Diamond-Blackfan anemia 8 is a rare genetic disorder that primarily affects the bone marrow, resulting in lower production of red blood cells. This co...

Diamond-Blackfan anemia 9 is a rare form of Diamond-Blackfan anemia that occurs due to a mutation in the RPS10 gene. This condition is part of a group...

Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare condition marked by issues with the immune system. People with this condition ma...

Dieterich disease is a rare disease. Detailed information about this condition is currently limited in medical literature.

Donnai-Barrow syndrome is a rare condition that affects many parts of the body. It is known for causing a number of birth defects, including changes i...

Donohue syndrome, also known as leprechaunism, is a rare, congenital condition marked by extreme insulin resistance. This condition is characterized b...

Dorfman-Chanarin disease is a rare inherited condition that is known by many names, including Chanarin-Dorfman Syndrome, neutral lipid storage disease...

Dowling-Degos disease is a skin condition marked by a net-like (reticulate) pattern of dark pigmentation, most notably in the folds and creases of the...

Dowling-Degos disease 1 is a rare genetic skin condition caused by a mutation in the KRT5 gene. This mutation leads to changes in the skin, and it is...

Dowling-Degos disease 2 is a rare skin condition that occurs due to a mutation in the POFUT1 gene. This gene mutation affects the normal functioning o...

Dowling-Degos disease 4 is a rare condition where a mutation in the POGLUT1 gene causes changes typically seen in the skin. This condition is one of s...

Down syndrome is a chromosomal abnormality that results from the presence of an extra copy of chromosome 21, leading to a constellation of physical an...

Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and leads to vision loss. It is characterized by the presence of small,...

Drachtman Weinblatt Sitarz syndrome is a rare genetic disorder. It is characterized by an under-development of the bone marrow along with significant...

Dravet syndrome is a severe form of epilepsy that typically begins in the first year of life, most often around 4 to 5 months of age. Affected childre...

Duane anomaly-myopathy-scoliosis syndrome is a rare disorder described in one pair of siblings. People with this condition show bilateral Duane anomal...

Duane retraction syndrome is a condition present from birth that affects the movement of the eyes. People with this condition have difficulty moving t...