Disease Directory

Aggressive B-cell non-Hodgkin lymphoma is a type of cancer affecting the lymphatic system, where abnormal lymphocytes grow rapidly and can spread to o...

Aggressive NK-cell leukemia is a rare and highly aggressive blood cancer that is associated with the Epstein-Barr virus. It is also known as aggressiv...

Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis. In this condition, there is a significant buildup of mast c...

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare condition characterized by the absence of the mandible along with brain malfor...

Agranulocytosis is a condition where there is a decrease in the number of mature granulocytes in the peripheral blood. Granulocytes include neutrophil...

Akinetopsia is a rare condition in which people lose the ability to perceive motion. It falls under a group of neurological conditions known as agnosi...

Alacrima, achalasia, and intellectual disability syndrome is a rare genetic condition. The name of the syndrome highlights key features including alac...

Alacrima, congenital, autosomal dominant is a rare condition that is identified by a lack or significant reduction of tear production from birth. The...

Alacrima, congenital, autosomal recessive is a rare condition noted in its name by the presence of alacrima, which means a reduced or absent productio...

Alanine glyoxylate aminotransferase deficiency is a condition related to plasmalogen biosynthesis. This means that a process in the body that makes im...

Alar cartilages hypoplasia-coloboma-telecanthus syndrome is a very rare disorder first described in two sisters. People with this condition have under...

Albinism is a congenital disorder characterized by a partial or complete absence of melanin pigment in the eyes, hair, or skin. Variants in the GPR143...

Albinism-hearing loss syndrome is a rare genetic condition that mainly affects the ears and skin. It is characterized by congenital nerve deafness and...

Alcohol-related birth defect is a condition resulting from maternal alcohol consumption during pregnancy that leads to a range of physical and cogniti...

Alcoholic cardiomyopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alcoholic polyneuropathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Aldosterone-producing adenoma with seizures and neurological abnormalities is a very rare multisystem condition that combines endocrine dysfunction wi...

Aldosterone-producing adrenal cortex adenoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Aleukemic leukemia is a form of cancer affecting the blood and bone marrow that is notable for the absence of detectable leukemic cells in the periphe...

Aleukemic leukemia cutis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It involves...