Disease Index

medical condition

medical condition

medical condition

disease

Human disease

human disease

syndrome characterized by calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia

degenerative neurological disorder

human medical condition

bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)

viral disease

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly

congenital heart defect

medical condition

syndrome characterized by multiple polyps of the digestive tract

rare syndrome

human disease

Congenital disorder of the skull and face

autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has material basis in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16

rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia

group of rare autosomal dominant diseases

potentially fatal disease

human disease

medical condition

congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure