Rare Disease Index

congenital heart defect, whose symptoms include episodes of bluish skin color, whose embryology includes anteriosuperior displacement of the infundibular (aorticopulmonary) septum

human disease

presence of four sets of chromosomes

Presence of four copies of the short arm of chromosome 18

human disease

human disease

Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia

human disease

human disease

human disease

osteochondrodysplasia that results in short arms and legs with excess folds of skin

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly

form of thanatophoric dysplasia

human disease

protein-coding gene in the species Homo sapiens

human disease

Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness

medical condition

Human disease

human disease

human disease

inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines

human disease