Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, which is also known as Hay-Wells syndrome, ankyloblepharon-ectodermal defects-cleft ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Adult-onset Still’s disease (AOSD) is a rare inflammatory disorder that can affect the entire body (systemic disease). The cause of the disorder is unknown ...
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) also known as hereditary diffuse leukoencephalopathy with spheroids ...
Adult polyglucosan body disease (APBD) is a rare, genetic disorder characterized by a deficiency of the glycogen-branching enzyme, progressive pyramidal ...
Adult neuronal ceroid lipofuscinosis (ANCL) is a general term for several rare genetic disorders that belong to a group of progressive, degenerative ...
ADNP syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. ...
Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients, the pupil is larger than normal ...
Adenylosuccinate lyase deficiency is an inherited metabolic disorder that is characterized by three categories (fatal neonatal form, type I, and type II), ...
ADCY5-related dyskinesia is a neurologic disorder with a variety of movement abnormalities. Dyskinesia means that affected individuals have trouble ...
Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of ...
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, ...
