| DR | degeneration reaction; delivery room; deoxyribose; diabetic retinopathy; diagnostic radiology; digit... |
|---|---|
| ERA | electrical response activity; electroencephalic response audiometry; Electroshock Research Associati... |
| ERP | early receptor potential; effective refractory period; elodoisin-related peptide; endoscopic retrogr... |
| GCGR | glucagon receptor; glucocorticoid receptor |
| INSRR | insulin receptor-related receptor |
| central type neurofibromatosis | Type I neurofibromatosis. Incomplete neurofibromatosis, multiple neurofibromas with minimal manifestations, perhaps limited to cafe-au-lait spots; individuals with minimal lesions may have offspring with severe involvement. Synonym: abortive neurofibromatosis. (05 Mar 2000) |
|---|---|
| glycogen storage disease type I | <disease> An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycaemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. Inheritance: autosomal recessive. (12 Dec 1998) |
| glycogen storage disease type II | <disease> Glycogenosis due to alpha-1,4-glucosidase (acid maltase) deficiency. It affects muscle, heart, and other organs. (12 Dec 1998) |
| glycogen storage disease type III | <disease> An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups type IIIa and type IIIb being the most prevalent. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type IV | <disease> An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type V | <disease> Glycogenosis due to muscle phosphorylase deficiency. Characterised by painful cramps following sustained exercise. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VI | <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis. (12 Dec 1998) |
| glycogen storage disease type VII | <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| V-type ATPase | <enzyme> From eukaryotic endomembrane systems, including vacuoles, lysosomes, golgi apparatus, chromaffin granules and coated vesicles. One of three major classes of ion transport ATPase, characterised by a multi subunit structure and a lack of a phosphorylated intermediate. Found in archaebacteria but not eubacteria, in the intracellular acidic vacuoles and in some proton pumping epithelia (e.g. Intercalated cells of kidney). A complex enzyme encoded by several genes, involved in ion translocation but does not act via phosphorylated enzyme intermediate See: P-type ATPase. Registry number: EC 3.6.1.- Synonym: atpase, v-type, atpase, vacuolar, vacuolar atpase, v-atpase, vacuolar h+-atpase, vacuolar membrane h(+)-atpase, vha55 gene product, vma16 gene product (26 Jun 1999) |
| Gm type | <immunology> Genetically determined allotypic antigens found on IgG of some individuals. (18 Nov 1997) |
| Golgi type II neuron | <physiology> Nerve cells with short axons which ramify in the gray matter. (05 Mar 2000) |
| Golgi type I neuron | <physiology> Nerve cells whose long axons leave the gray matter of which they form a part. (05 Mar 2000) |
| membrane-type 3 matrix metalloproteinase | <enzyme> Sm3 is a soluble form of mt3-mmp, probably an alternatively sliced variant. Registry number: EC 3.4.24.- Synonym: mt3-mmp, sm3-mmp (26 Jun 1999) |
| membrane-type 4 matrix metalloproteinase | <enzyme> Cloned from breast carcinoma. Registry number: EC 3.4.24.- Synonym: mt4-mmp, mmp-17 gene product, mmp-17 (26 Jun 1999) |