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Diseases
22 recordsSickle Cell disease · inherited hemoglobin disorders involving hemoglobin S
A group of inherited blood disorders in which hemoglobin S is present with another disease-associated HBB allele. Low-oxygen HbS can form fibers, making red blood cells rigid and contributing to anemia and blocked blood flow.
G6PD Deficiency · Glucose-6-phosphate dehydrogenase deficiency
Variants that reduce G6PD activity can leave red blood cells less able to manage oxidative stress.
Phenylketonuria (PKU) · PAH-related phenylalanine hydroxylase deficiency
Usually caused by PAH variants that impair conversion of phenylalanine to tyrosine.
Beta Thalassemia · HBB-related reduced beta-globin production
A group of inherited blood disorders in which HBB variants reduce or prevent beta-globin production, limiting functional hemoglobin and healthy red blood cells.
Pyruvate Kinase deficiency · PKLR-related red-cell glycolytic disorder
Inherited PKLR variants can reduce red-cell pyruvate kinase activity and impair ATP generation in erythrocytes.
Autoimmune Liver disease · Autoimmune liver diseases (category)
A broad category of liver conditions driven by immune attack, including autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis.
Duchenne Muscular dystrophy · Duchenne muscular dystrophy
A genetic muscle disease caused by DMD variants that disrupt production of functional dystrophin.
Ebola Disease · Ebola disease
A severe illness caused by infection with an orthoebolavirus; Ebola disease is not caused by every virus in the Filoviridae family.
Epstein-Barr Virus infection · Infection with Epstein-Barr virus (human gammaherpesvirus 4)
Infection with a very common herpesvirus that can cause infectious mononucleosis and then persists silently for life.
Gaucher Disease · Gaucher disease
An inherited lysosomal disorder associated with reduced glucocerebrosidase activity and accumulation of its lipid substrate.