Rare Disease Index

autosomal recessive congenital disorder featuring insufficiency of tears, adrenal insufficiency, and esophageal dysfunction

extremely rare chromosomal disorder occuring during human embryogenesis, causing severe abnormalities in fetal development and usually lethal in the prenatal stage

a genetic condition where the mouth cannot be opened completely (trismus) and the fingers bend when dorsiflexion of the wrist/hand is attempted (pseudocamptodactyly.

abnormal condition of three copies of a particular chromosome

Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10

partial or complete triplication of chromosome 16

human disease, blue color blindness

gestational or non-gestational germ cell and embryonal cancer that derives from trophoblastic tissue

gene (13q13.1), which encodes the protein spartin.

human disease

human disease

rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism

medical condition

Human disease

infectious disease caused by the bacterium Mycobacterium tuberculosis

rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

Human disease