Disease Index

a systemic vasculitis realized as blood vessel inflammation, with symptoms asthma along with hay fever, rash and gastrointestinal bleeding

Human disease

presence of milky lymph in the peritoneal cavity

autoimmune blistering disease

human disease

genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs

Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin

human disease

monogenetic inherited metabolic disease

urea cycle disorder that involves the accumulation of ammonia in the blood.

medical condition

human disease

syndrome consisting of multiple malformations and overgrowth

human disease

rare hereditary disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications