Disease Directory

Achromatopsia 2 is a condition that affects the ability to see colors. People with this condition usually have complete achromatopsia, meaning they se...

Achromatopsia 3 is a rare inherited condition defined by a mutation in the CNGB3 gene. This form of achromatopsia falls under a group of conditions th...

Achromatopsia 4 is a type of achromatopsia caused by a mutation in the GNAT2 gene. This condition is defined by the absence or impairment of color vis...

achromatopsia 5 is a rare disease. Detailed information about this condition is currently limited in medical literature.

achromatopsia 6 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Achromatopsia 7 is a rare condition that affects the eyes, where the ability to see color is greatly reduced or absent. This condition is caused by a...

Acid sphingomyelinase deficiency is a rare lysosomal disorder that affects how the body processes fats. This condition occurs due to issues with an en...

Acinar dysplasia is a rare and lethal developmental lung malformation. It is characterized by an underdevelopment of the lungs, known as pulmonary hyp...

Acinar dysplasia caused by mutation in FGF10 is a rare condition where a change in the FGF10 gene leads to abnormal development of acinar tissue. This...

Acinar dysplasia caused by a mutation in the FGFR2 gene is a condition that affects the acinar cells. Acinar cells are important for the function of c...

Acinar dysplasia caused by a mutation in the TBX4 gene is a rare condition. In this disorder, the normal structures of the acinar cells, which are inv...

Acinar lung adenocarcinoma is a morphologic variant of lung adenocarcinoma. This condition is characterized by the presence of acinar structures, whic...

Acitretin/Etretinate embryopathy is a disorder that occurs when a pregnant person is exposed to the medications acitretin or etretinate during the fir...

Acoustic neuroma, also known as vestibular schwannoma, is a benign tumor that arises from Schwann cells, which are responsible for the myelin sheath s...

Acquired Creutzfeldt-Jakob disease is a form of Creutzfeldt-Jakob disease that is not inherited but instead is acquired during a person’s lifetime. Th...

Acquired Fanconi syndrome is a condition that occurs when the kidneys do not work as they should due to exposure to harmful substances. This condition...

Acquired adrenogenital syndrome is a form of adrenogenital syndrome that develops during an individual’s lifetime rather than being present from birth...

Acquired adult-onset immunodeficiency is a condition in which the immune system becomes weakened during adulthood. This means that people with this co...

Acquired agranulocytosis is a condition in which the body’s immune system mistakenly targets and reduces a type of white blood cell called granulocyte...

Acquired aneurysmal subarachnoid hemorrhage is a critical neurological condition characterized by the sudden rupture of an intracranial aneurysm, lead...