Weber-Cocayne syndrome
Weinrich et Emmerson
Whipple's triad
| Gaucher's disease | <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction. Inheritance: autosomal recessive. (27 Sep 1997) |
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| gaucher's disease, type 1 | A progressive genetic disease caused by a defect in an enzyme. The enzyme, called glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States. (12 Dec 1998) |
| Ranikhet disease | An influenza-like viral disease of birds, including domestic fowl, characterised by respiratory and gastrointestinal or pneumonic and encephalitic symptoms. First seen near newcastle, england, the infection is also transmissible to humans by contact with infected birds. (12 Dec 1998) |
| manic-depressive disease | See manic-depression. (12 Dec 1998) |
| rat-bite disease | A syndrome characterised by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either streptobacillus moniliformis or spirillum minus. (12 Dec 1998) |
| generalised small bowel disease | <radiology> Hypoproteinaemia, sprue, Whipple (12 Dec 1998) |
| Raussly disease | A rare autosomal dominant neurological disorder with many of the clinical features of hereditary hypertrophic sensorimotor polyneuropathy combined with an essential tremor. Synonym: hereditary areflexic dystasia. (05 Mar 2000) |
| venereal disease | <microbiology> A disease contracted through sexual intercourse. Examples include syphilis, gonorrhoea, chlamydia and lymphogranuloma venereum. Synonym: sexually transmitted disease. (12 Jan 1998) |
| Venereal Disease Research Laboratory | <microbiology> A blood test used to diagnose syphilis. Read as nonreactive or negative if you do not have syphilis. The Venereal Disease Research Laboratory can also be positive is cases of leprosy, malaria, mononucleosis, lupus, hepatitis A and pregnancy. Positive Venereal Disease Research Laboratory tests are usually followed up by a more specific test (FTA antibodies). (12 Jan 1998) |
| Manson's disease | Schistosomiasis caused by schistosoma mansoni. It is endemic in africa, the middle east, south america, and the caribbean and affects mainly the bowel, spleen, and liver. (12 Dec 1998) |
| Rayer's disease | Xanthomatosis with hypercholesterolaemia, resulting from biliary cirrhosis. Synonym: Rayer's disease. (05 Mar 2000) |
| Raynaud's disease | <disease> Paroxysmal spasm of the digital arteries causing pallor (blanching) of the fingers and toes. Maurice Raynaud, French physician (1834-81). (27 Sep 1997) |
| veno-occlusive disease | <haematology, oncology> A disease that sometimes occurs following high-dose chemotherapy or radiation, in which the blood vessels that carry blood through the liver become swollen and clogged. Acronym: VOD (12 Jan 1998) |
| veno-occlusive disease of the liver | Obliterating endophlebitis of small hepatic vein radicles, described in Jamaican children, associated with ingestion of toxic plant substances in bush tea; causes ascites, which may progress to cirrhosis. (05 Mar 2000) |
| maple bark disease | <radiology> Type of extrinsic allergic alveolitis, source: moldy maple bark in saw mills, organism: Cryptostroma corticale (12 Dec 1998) |