Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV, OMIM# 265380) is a rare disorder present at birth (congenital). Infants ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental transient episode of hemiplegia alternating in the laterality or quadriparesis, ...
Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The ...
Alport syndrome is a rare genetic also known as hereditary nephritis is a genetic disorder arising from the mutations in the genes encoding alpha-3, ...
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a ...
Alpha-1 antitrypsin deficiency (A1AD) is a clinically under-recognized hereditary genetic disorder that causes the defective production of alpha-1 ...
Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome ...
Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alpha-globin subunits, ...
Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease associated ...
Alopecia areata is a form of alopecia that impacts hair follicles, nails, and rarely, the retinal pigment epithelium and typically presents with round ...
Alexander disease is an extremely rare, autosomal dominant leukodystrophy, which is a neurological condition caused by anomalies in the myelin which ...
Alagille syndrome (ALGS) also known as arteriohepatic dysplasia is a rare genetic multisystem disease characterized by cholestasis and bile duct paucity on ...
ALAD porphyria is a very rare genetic metabolic disease characterized by an almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) ...
The term “AIDS dysmorphic syndrome” or “HIV embryopathy” has been used by some researchers to describe specific facial malformations (i.e., craniofacial ...
Aicardi syndrome is also known as agenesis of the corpus callosum with chorioretinitis abnormality, agenesis of the corpus callosum with infantile spasms ...
Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and ...
Acquired agranulocytosis is rare, also known as agranulosis or granulopenia, a drug-induced blood disorder that is characterized by a severe reduction in ...
Agenesis of corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum that is present at birth ...
An agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of ...
African iron overload also known as Bantu siderosis or dietary iron overload is a rare disorder characterized by abnormally elevated levels of iron in the ...
