Disease Index

human disease

human disease

human disease

intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction

benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has material basis in mutation in the ATP8B1 gene on chromosome 18q

benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31

human disease

benign neoplasm that involves the skin of eyelid

human disease

human disease

syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis

human disease

Human disease

pneumoconiosis that involves allergic response located in lungs caused by inhalation of beryllium compounds

Human disease

thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin

Human disease

lysosomal storage disease that has material basis in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism

human disease

Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions

Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder

human disease

Human disease

human disease

human disease

human disease

genetic metabolic disorder