Disease Index

Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.

human disease

people with this hereditary condition have a double row of eyelashes,

human disease

human disease

colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)

carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells

human disease

Human disease

hematologic cancer that affects lymphocytes

disease

medical condition

human disease

human disease

primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection

Human disease

medical condition

Human disease

Lysosomal storage disease

lipid storage disease characterized by lysosomal and lipase deficiency

human disease

human disease

human disease

human disease

inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function

human disease

human disease

autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene