Alpha thalassemia spectrum is an inherited hemoglobinopathy characterized by impaired production of alpha-globin chains. It results from pathogenic va...

Alpha thalassemia-X-linked intellectual disability syndrome is a complex condition that primarily affects males and involves multiple organ systems. I...

ALPI-related inflammatory bowel disease is a form of inflammatory bowel disease that, according to current understanding, is linked to a mutation in a...

ALPL-related autosomal dominant hypophosphatasia is a form of hypophosphatasia that affects bone mineralization and may lead to skeletal abnormalities...

ALPL-related autosomal recessive hypophosphatasia is a disorder characterized by impaired bone mineralization and skeletal abnormalities. Recognized s...

Alport syndrome is a renal condition that primarily affects the glomeruli of the kidneys, often leading to blood in the urine and eventual kidney fail...

Alport syndrome 3b, autosomal recessive is a genetic condition primarily affecting the kidney and ear, leading to a combination of renal and auditory...

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a complex, multi-system condition that affects the ear, growth,...

Al-Raqad syndrome is a congenital multisystem disorder that affects the cardiovascular, integumentary (skin), nervous, and skeletal systems. It is cau...

ALS2-related motor neuron disease, also known as Alsin-related motor neuron disease, is a disorder affecting the motor neurons responsible for muscle...

Alsahan-Harris syndrome is a condition with limited detailed clinical characterization and the underlying causes remain uncertain. There is currently...

Alstrom syndrome is a multisystem disorder that affects multiple organs including the eyes, ears, heart, liver, kidneys, and metabolic systems. It is...

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 disorder caused by the ingestion of eggs from the tapeworm Echinococcus multilocularis. The condition prim...

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