The X-linked recessive ATR-X syndrome is characterized by hypotonia, facial dysmorphism, genital malformation and severe mental retardation.
Gyrate atrophy of the choroid and retina manifests itself by the atrophia gyrata of the choroid and retina.
ATR-16 is a congenital syndrome in which patients develop either an alpha thalassemia trait or a mild hemoglobin H disease.
The superior mesenteric artery syndrome is a gastrointestinal vascular disease with duodenal stenosis due to compression of the distal duodenal section between the superior mesenteric artery and the aorta.
Apnea of prematurity is a developmental disorder in premature infants that results in respiratory complications.
Aplasia cutis congenita is a congenital or intrauterine-endowed disease, a congenital aplasia of the cutis. It is usually locally limited to find the head.
Anthracycline-induced extravasation is a serious complication that can occur after infusion of anthracyclines. In this condition, the infusion fluid does not enter the vein, but into the surrounding tissue.
The syndrome with the proposed acronym ANOTHER is characterized by alopecia, nail dystrophy, ophthalmological complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides (freckles), enteropathy and respiratory infections as a result of ciliary dyskinesia.
Angiomyolipoma is a benign tumor of the kidney, with high levels of adipose tissue.
Angiomyolipoma is a benign tumor of the kidney, with high levels of adipose tissue.
ANCA-associated vasculitis is a systematic vascular inflammation that can affect all organs.
Anaplastic large cell lymphoma is a malignant T-cell lymphoma that belongs to the group of non-Hodgkin's lymphomas.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in progressive muscular paralysis as a result of degeneration of the motor neurons of the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Amyloidoses cause deposits of fibrillar protein in the intercellular space of various organs.
Alström syndrome is a rare autosomal recessive disorder characterized by congenital rod dystrophy, type II diabetes mellitus, dilated cardiomyopathy, deafness, hyperinsulinemia, obesity, insulin resistance, and progressive renal and hepatic dysfunction.
The X-linked recessive syndrome manifests itself in men primarily in the form of alpha-thalassemia, associated with facial dysmorphism, genital abnormalities and severe developmental delays.
Alpha-heavy chain disease is characterized by incomplete monoclonal heavy alpha chains with no associated light chains.
Alpha-mannosidosis is a very rare hereditary lysosomal storage disease (LSD), which begins early in childhood and the symptoms of which may include immunodeficiency, facial anomalies, skeletal changes, deafness and mental retardation.
Alpha-1 antitrypsin deficiency is an autosomal recessive disease that manifests itself in all age groups.
The Allan-Herndon-Dudley syndrome is characterized by mental retardation (XL-MR) and neuromuscular involvement with muscle hypoplasia and hypotension.