Disease Directory

Abdominal cystic lymphangioma is a rare, benign condition that involves an abnormal formation of lymphatic vessels in the abdomen. The lymphatic vesse...

Information about overview is currently limited for this condition.

Abdominal obesity-metabolic syndrome 3 is a type of metabolic syndrome caused by a mutation in the DYRK1B gene. This condition is characterized by fea...

Information about overview is currently limited for this condition.

Abdominal obesity-metabolic syndrome quantitative trait locus 2 is a rare condition that has been noted in scientific records. It is associated with t...

Abdominal tuberculosis is an extrapulmonary form of tuberculosis that affects the gastrointestinal tract and associated structures, including the peri...

abdominal wall malformation is a rare disease. Detailed information about this condition is currently limited in medical literature.

Abetalipoproteinemia, also called Bassen Kornzweig disease, is a very rare inherited disorder in which a change in the MTTP gene prevents the body fro...

Ablepharon macrostomia syndrome is an extremely rare condition that affects many parts of the body. People with this condition often have a combinatio...

Abnormal mineralization disorder is a skeletal dysplasia where osteoid becomes calcified. This means that the normal process of bone mineralization is...

Information about overview is currently limited for this condition.

Information about the overview is currently limited for this condition.

Absence deformity of leg-cataract syndrome is a very rare condition described in two unrelated boys. People with this syndrome have an absence deformi...

Absence of fingerprints-congenital milia syndrome is a rare condition that is usually seen from birth. It is marked by the lack of fingerprints on the...

Absence of innominate vein is a rare congenital condition in which the left brachiocephalic (innominate) vein is missing. This leads to an unusual pat...

Absence of the pulmonary artery is a rare vascular condition where one of the pulmonary arteries, either right or left, is missing from birth. The aff...

Absent radius-anogenital anomalies syndrome is a rare genetic condition that affects the development of the limbs and the formation of the anogenital...

Absent tibia-polydactyly-arachnoid cyst syndrome is a very rare condition that affects the development of bones and certain structures in the body. Pe...

Acalvaria is a rare malformation in which the scalp and the flat bones of the top part of the skull are missing over a variable area. In many cases, p...

Acanthokeratolytic verrucous nevus, also known as verrucous nevus acanthokeratolytic, is a rare skin condition. Information about the detailed charact...