Rare Disease Index

human disease

form of hypogammaglobulinemia appearing after birth, leading to a reduction in the level of IgG, and also sometimes IgA and IgM

human disease

myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome and rarely in non-Down's infants

neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients

transitional cell carcinoma that involves the body of uterus

human disease

group of brain diseases induced by prion proteins

Human disease

group of congenital heart defects involving an abnormal spatial arrangement of any of the great vessels: superior and/or inferior venae cavae, pulmonary artery, pulmonary veins, and aorta

human disease

HEREDITARY AMYLOIDOSIS

an inflammatory demyelinating disorder of the spinal cord, either idiopathic or secondary to a known cause

human disease

human disease

condition caused by an external force which has traumatically injured the brain

human genetic disorder

This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms

involuntary muscle contraction

human disease

human disease

human disease

Orthopedic disease

human disease

acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle

parasitic disease due to invasion by Trichinella spp.

human disease