Diseases

Diseases

Contributors in Diseases

Diseases

A generalised seizure disorder characterised by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. ...

Hypophosphatasia

Health care; Diseases

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations ...

Autosomal dominant polycystic kidney

Health care; Diseases

A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. Type 1 is usually caused by a mutant gene at ...

Incontinentia pigmenti

Health care; Diseases

A genodermatosis occurring mostly in females and characterised by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and ...

Focal dermal hypoplasia

Health care; Diseases

A genetic skin disease characterised by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

Rhinoscleroma

Health care; Diseases

A granulomatous disease affecting the nose and nasopharynx, usually ascribed to klebsiella rhinoscleromatis. It occurs in Egypt, eastern Europe, and Central and South America.