Disease Directory

alpha-actinopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alpha-heavy chain disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alpha-mannosidosis is an inherited lysosomal storage disorder that primarily affects multiple organ systems, including the immune system, skeletal str...

alpha-mannosidosis type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alpha-mannosidosis is a rare lysosomal storage disorder caused by a deficiency in the enzyme alpha-D-mannosidase. The adult form of this condition is...

Alpha-mannosidosis, infantile form, is a rare lysosomal storage disorder characterized by a deficiency in the enzyme alpha-D-mannosidase. Currently, n...

Alpha-methylacyl-CoA racemase deficiency is an inherited metabolic disorder that chiefly affects the nervous system and eyes. It results from harmful...

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired disorder characterized by abnormal red blood cell production related to a myelodyspl...

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

Alternating hemiplegia of childhood is a rare neurodevelopmental disorder characterized by recurrent episodes of one-sided weakness and other brief ne...

Alternating hemiplegia of childhood 1 is a neurological condition characterized by recurrent episodes of temporary paralysis that may affect one side...

Alternating hemiplegia of childhood 2 is a neurological condition characterized by episodes of paralysis that alternate in onset during childhood. It...

Alveolar capillary dysplasia with misalignment of pulmonary veins is a rare and fatal developmental lung disorder that primarily affects newborns. It...

Alveolar capillary dysplasia without misalignment of pulmonary veins is an extremely rare condition. Because few cases have been documented, detailed...

Alveolar echinococcosis is a rare parasitic condition caused by the accidental ingestion of eggs from Echinococcus multilocularis. The infection typic...

Alveolar rhabdomyosarcoma (ARMS) is a malignant mesenchymal neoplasm characterized by round cells with myoblastic differentiation and an alveolar grow...

Alveolar soft part sarcoma (ASPS) is a rare type of soft tissue sarcoma primarily affecting adults, with the most common site being the deep soft tiss...

Alves Castelo dos Santos syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Amastia is an extremely rare condition characterized by the absence of one or both mammary glands. Because few cases have been documented, detailed cl...

Amaurosis-hypertrichosis syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.