Disease Index

human disease

human disease

pneumoconiosis caused by inhalation and retention of asbestos fibers

human disease

medical condition

disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues

neurodevelopmental disorder; type of autism

human disease

human disease

infectious disease of humans, birds and other animals

human disease

rare disease

medical term for reduced sperm motility

rare lethal skeletal dysplasia

glial tumor derived from the astroblast, a type of cell that closely resembles spongioblastoma and astrocytes

type of cancer of the brain originating in a particular kind of glial cells, star-shaped brain cells in the cerebrum called astrocytes

medical condition

chemical compound

human disease

a rare, neurodegenerative, autosomal recessive human disease causing severe disability

human disease

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia

This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit

autosomal recessive disease characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2

AOA4

human disease

human disease

human disease

human disease