Disease Index

human disease

autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis

autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash

human disease

human disease

a rare hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting

This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases

(5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.

type of thalassemia

long-term brain disorder causing personality changes and impaired memory, reasoning, and social function

parasitic disease of humans and animals

human disease

DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes

histiocytic and dendritic cell cancer that is mainly located in lymph nodes

Human disease

tropical disease caused by the dengue virus, transmitted by mosquito

human disease

severe form of Hallermann-Streiff syndrome, observed in one family

human disease

congenital disorder of urinary system

disease involving the calcareous tooth

congenital disorder of nervous system

teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology

human disease

Human disease

human disease