| DMD | Duchenne type Muscular Dystrophy; 악성형 Duchenne형 근이영양증 |
|---|---|
| EA | 1) Esophageal Atresia Types 1. Esophageal Atresia with Dis... |
| GIDAANT | Gender Identity Disorder of Adolescence or Adulthood, Non-transsexual Type |
| HBPV | Haemophilus influenza type B Polysaccharide(PRP) Vaccine; B형 헤모필루스 인플루엔자 피막 다당질 백신... |
| Hib | Haemophilus Influenzae B type; B 형 인플루엔자균 |
| type IS mucopolysaccharidosis | <syndrome> A hereditary metabolic disorder caused by a recessive gene which results in a deficiency of the enzyme alpha-L-iduronidase, which breaks down dermatan sulphate and heparan sulphate, two types of mucopolysaccharides (complex carbohydrates). Consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage. Symptoms include skeletal deformities, mental retardation, coronary artery disease, deafness, and stiff joints, among other things. There are mild and severe forms of the syndrome, the severe form is called Hurler syndrome, the mild form is called Scheie Syndrome, and children with an intermediate form have Hurler-Scheie Syndrome. Patients with the mild form generally suffer little to no mental retardation and survive to adulthood. There is presently no cure. Scheie's Syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter syndrome. (09 Oct 1997) |
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| type IVA,B mucopolysaccharidosis | <syndrome> An error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterised by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IV A mucopolysaccharidosis is due to an absence of galactose-1-sulfatase, while type IV B is due to a deficiency of a beta-galactosidase. Synonym: Brailsford-Morquio disease, Morquio's disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis. (05 Mar 2000) |
| type IV acrocephalosyndactyly | Acrocephalosyndactyly with pointed nose, hypertelorism, cleft palate, congenital heart disease and pseudohermaphroditism; contractures of elbows and knees; soft tissue syndactyly, absent first metatarsal and great toe. Autosomal recessive. (05 Mar 2000) |
| type IV collagen | A less distinctly fibrillar form of collagen characteristic of basement membranes. (05 Mar 2000) |
| type IV familial hyperlipoproteinaemia | Plasma levels of VLDL, pre-beta-lipoproteins and triglycerides are increased on a normal diet, but beta-lipoproteins, cholesterol, and phospholipids are normal; hypertriglyceridemia is induced by a high carbohydrate diet; may be accompanied by abnormal glucose tolerance and susceptibility to ischemic heart disease; probably autosomal recessive inheritance. Synonym: carbohydrate-induced hyperlipaemia, familial hyperprebetalipoproteinaemia, familial hypertriglyceridemia. (05 Mar 2000) |
| type IV prepilin peptidase | <enzyme> Product of the pulc-o pullulanase secretion gene operon; involved in processing prepilin signal peptide; may also function as an n-methyltransferase Registry number: EC 3.4.99.- Synonym: pulo protein, pulo gene product, pulo peptidase (26 Jun 1999) |
| type locality | <zoology> The geographical location of the occurrence of the population from which the type specimen was taken. Population occurring at type locality = topotypical population. Specimens collected at type locality = topotypes. (09 Jan 1998) |
| type material | <zoology> A collective term for all type specimens. Zoologists should ensure that such material is transferred as quickly as possible to public institutions where their safety is guaranteed and they are accessible to other workers. (09 Jan 1998) |
| type series | <zoology> The series of specimens which either constitutes the name-bearing type of a nominal species or subspecies or from which the name-bearing type has been or may be designated. (09 Jan 1998) |
| type species | <zoology> The nominal species that is the name-bearing type of a nominal genus or subgenus. (09 Jan 1998) |
| type specimen | <zoology> Any specimen of the type series. (09 Jan 1998) |
| type strain | The nomenclatural type of a species or subspecies. (05 Mar 2000) |
| type V acrocephalosyndactyly | Acrocephalosyndactyly with broad short thumbs and great toes, often with duplication (polydactyly) of the great toes and variable syndactyly of other digits; autosomal dominant inheritance. Synonym: Pfeiffer's syndrome. (05 Mar 2000) |
| type V familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of chylomicrons, VLDL, pre-beta-lipoproteins, and triglycerides, and slight rise of cholesterol on a normal diet, with beta-lipoproteins normal; may be accompanied by bouts of abdominal pain, hepatosplenomegaly, susceptibility to atherosclerosis, and abnormal glucose tolerance; probably autosomal recessive inheritance. Synonym: combined fat-and carbohydrate-induced hyperlipaemia, familial hyperchylomicronaemia with hyperprebetalipoproteinaemia, mixed hyperlipaemia. (05 Mar 2000) |
| type VIII mucopolysaccharidosis | <syndrome> An autosomal recessive disorder due to a deficiency of a beta-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues. Synonym: type VII mucopolysaccharidosis, type VIII mucopolysaccharidosis. (05 Mar 2000) |