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Glycogen Storage Disease Type II
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II 12 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type II |
History note: | |
historyNote*: | 1989(1975); use GLYCOGENOSIS 1975-1988
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publicMeSHNote*: | 1989; see GLYCOGENOSIS 1975-88
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Scope note: | An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
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activeMeSHYear*: | 2007X |
dateCreated*: | 1974-12-12X |
dateEstablished*: | 1989-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
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Labels and equivalent concepts: | Glykogenoosi II (fi) XPompen tauti (fi, replaced) Glykogenoosi tyyppi II (fi, replaced) Dekstrinoosi tyyppi II (fi, replaced) Dekstrinoosi II (fi, replaced) Tyypin II dekstrinoosi (fi, replaced) Tyypin II glykogenoosi (fi, replaced) Tyyppi II glykogenoosi (fi, replaced) Tyyppi II dekstrinoosi (fi, replaced) Glykogenupplagringssjukdom typ II (sv) Glykogenos 2 (sv, replaced) Pompe's Disease (en, replaced) Pompe Disease (en, replaced) Glycogen Storage Disease Type II, Adult (en, replaced) Generalized Glycogenosis (en, replaced) Deficiency Disease, Lysosomal alpha-1,4-Glucosidase (en, replaced) Deficiency Disease, Acid Maltase (en, replaced) Glycogenosis 2 (en, replaced) Glycogenosis Type II (en, replaced) Lysosomal alpha-1,4-Glucosidase Deficiency Disease (en, replaced) Juvenile Glycogen Storage Disease Type II (en, replaced) Infantile Glycogen Storage Disease Type II (en, replaced) Acid Maltase Deficiency Disease (en, replaced) Morbus Pompe (la-FI, replaced) |
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