Acute promyelocytic leukemia (APL) is a blood cancer characterized by a marked increase in a type of white blood cells known as promyelocytes, a type of ...
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase ...
Acute eosinophilic pneumonia (AEP) is a rare disorder characterized by the rapid accumulation of eosinophils in the lungs (pulmonary eosinophilia). ...
Acute disseminated encephalomyelitis (ADEM) is a neurological, immune-mediated disorder in which widespread inflammation of the brain and spinal cord ...
ACTH deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the ...
Acromicric Dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features and an extremely ...
Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as ...
Acrodysostosis is a rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused, in ...
Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism caused by a defect in the absorption of zinc, that occurs in one of three forms: an ...
Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, ...
Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle ...
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical ...
Lipodystrophies are conditions that share the common finding of a reduction in subcutaneous fat. There are multiple subtypes of lipodystrophy, which may be ...
Acquired lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point during life. Acquired ...
Acquired hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with no personal or family history of diseases ...
Acquired aplastic anemia is a rare, serious blood disorder, due to the failure of the bone marrow fails to produce blood cells. Bone marrow is the spongy ...
An acoustic neuroma is a type of non-cancerous (benign) brain tumor. It's also known as a vestibular schwannoma. A benign brain tumor is a growth in the ...
The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine, ...
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is ...
Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. ...