Diseases

Diseases

Contributors in Diseases

Diseases

An autosomal dominant disorder associated with various neoplasms including central nervous system (most often cerebellar) and retinal hemangioblastoma, endolymphatic sac tumors, renal cell carcinoma ...

Multiple sclerosis

Health care; Diseases

An autoimmune disorder mainly affecting young adults and characterised by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of ...

Lambert-Eaton myasthenic syndrome

Health care; Diseases

An autoimmune disease characterised by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of ...

Familial dysautonomia

Health care; Diseases

An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished ...

Neurofibromatosis 2

Health care; Diseases

An autosomal dominant disorder characterised by a high incidence of bilateral acoustic neuromas as well as schwannomas (neurilemmoma) of other cranial and peripheral nerves, and other benign ...

Facioscapulohumeral muscular dystrophy

Health care; Diseases

An autosomal dominant degenerative muscle disease characterised by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the ...

Diffuse palmoplantar keratoderma

Health care; Diseases

An autosomal dominant disorder characterised by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is ...