Disease Index

human disease

neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia

PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease

PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease

PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease

rare, genetic skin condition

adenoma of the pituitary gland producing prolactin

medical condition

medical condition

Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions

human disease

organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy

male reproductive organ cancer

unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma

human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease

human disease

Human disease

human disease

human disease

human disease

medical condition

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei

autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness

(20p13) leading to deposition of prion protein amyloid

pediatrics cases

human disease

serine deficiency that has material basis in deficiency of phosphoserine aminotransferase and is characterized by low concentrations of serine and flycine in plasma and cerebrospinal fluid