| type I familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
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| type IH mucopolysaccharidosis | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
| type I H/S mucopolysaccharidosis | <syndrome> Although clinically distinct diseases, fibroblasts from patients with Hurler syndrome and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same. (18 Nov 1997) |
| type I hyperlipoproteinaemia | <biochemistry> An rare inherited disorder where there is a deficiency of an enzyme (lipoprotein lipase) which breaks down fat molecules, causing the accumulation of fats or lipoproteins in the blood. Symptoms in infancy include abdominal pain (appears as if its colic), failure to thrive and skin lesions (xanthomas). Origin: Gr. Haima = blood (27 Sep 1997) |
| type II acrocephalosyndactyly | type II acrocephalosyndactyly |
| type II cells | Cuboidal cell's connected with the squamous pulmonary alveolar cell's and having in their cytoplasm lamellated bodies (cytosomes) that represent the source of the surfactant that coats the alveoli. Synonym: granular pneumonocytes, type II cells. (05 Mar 2000) |
| type II collagen | Collagen unique to cartilage, nucleus pulposis, notochord, and vitreous body; it forms as thin highly glycosylated fibrils. (05 Mar 2000) |
| type II diabetes | <disease> An often mild form of diabetes mellitus of gradual onset, usually in obese individuals over age 35; absolute plasma insulin levels are normal to high, but relatively low in relation to plasma glucose levels; ketoacidosis is rare, but hyperosmolar coma can occur; responds well to dietary regulation and/or oral hypoglycaemic agents, but diabetic complications and degenerative changes can develop. (05 Mar 2000) |
| type II dip | Late deceleration of the foetal heart rate, 30 seconds or more after the height of uterine contraction, as displayed on a foetal monitor graph. (05 Mar 2000) |
| type II error | The statistical error (said to be of the second kind or beta error) made in testing an hypothesis when it is concluded that a treatment or intervention is not effective when it really is. Sometimes referred to as a false negative. (12 Dec 1998) |
| type II familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance. Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia. (05 Mar 2000) |
| type II hyperlipoproteinaemia | <biochemistry> A relatively rare (7 out of 1,000) genetic disease in which there is elevation in the blood triglycerides, cholesterol and low density lipoprotein (LDL). Also called type II hyperlipoproteinaemia, familial hyperlipoproteinaemia or familial hypercholesterolaemia. Origin: Gr. Haima = blood (27 Sep 1997) |
| type III acrocephalosyndactyly | An autosomal dominant syndrome with variable expression of brachycephaly, maxillary hypoplasia, prominent ear crus, syndactyly, facial asymmetry, shallow orbits, telecanthus, and nasal septal deviation; may show mental retardation. Synonym: Saethre-Chotzen syndrome. (05 Mar 2000) |
| type III collagen | Collagen characteristic of reticular fibres. (05 Mar 2000) |
| type III familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of LDL, beta-lipoproteins, pre-beta-lipoproteins, cholesterol, phospholipids, and triglycerides; hypertriglyceridemia induced by a high carbohydrate diet, and glucose tolerance is abnormal; frequent eruptive xanthomas and atheromatosis, particularly coronary artery disease; biochemical defect lies in apolipoproteins; there are many varieties. Synonym: carbohydrate-induced hyperlipaemia, dysbetalipoproteinaemia, familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia, familial hypercholesterolaemia with hyperlipaemia. (05 Mar 2000) |