Rare Disease Index

human disease

human disease

synovium cancer which develops in the synovial membrane of the joints

syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene

Human disease

congenital disorder of nervous system

systemic disease is one that affects a number of organs and tissues, or affects the body as a whole

human disease

human disease

human disease

human disease

pediatric lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood

human disease

Systemic lupus erythematosus is a chronic autoimmune disease with immune-complex mediated inflammation and multisystem involvement, driven by genetic susceptibility and environmental triggers. Common manifestations include fatigue, arthritis, rash, nephritis, cytopenias, and neurologic disease, with a relapsing-remitting course. It is not ultra-rare, but severe refractory forms qualify for specialty orphan-drug development in some settings, and biologic therapies are documented for selected patients.

human disease

human disease

human disease

human disease

human disease

human disease

human disease

amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy

scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies

Systemic inflammatory disorder, and a subtype of juvenile idiopathic arthritis, associated with fever, rash, and arthritis.

human disease