Disease Index

Human disease

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age

medical condition

human disease

Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age

Human disease

adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years

medical condition

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

Parkinson's disease that has material basis in homozygous mutation in the DNAJC6 gene on chromosome 1p31

human disease

idiopathic inflammatory myopathy of childhood resulting in muscle weakness

autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum

medical condition

rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located in joint

human disease

Human disease

Human disease

human disease

human disease

rare disease

autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene

form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. The condition affects people with XX or XY chromosomes and causes atypical puberty and infertility

connective tissue cancer, common among early AIDS patients