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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) XPompe Disease (en, replaced) Pompe's Disease (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) Glycogenosis Type II (en, replaced) Glycogenosis 2 (en, replaced) Acid Maltase Deficiency 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) Enfermedad del Almacenamiento de Glucógeno Tipo II (es) νόσος αποθήκευσης γλυκογόνου τύπου II (el) Glykogenspeicherkrankheit Typ II (de) glykogen - nemoc z ukládání typ II (cs) Deficiencia de Maltasa Ácida (es, replaced) Enfermedad de Pompe (es, replaced) Glucogenosis Generalizada (es, replaced) Glucogenosis 2 (es, replaced) Enfermedad por Deficiencia de Maltasa Ácida (es, replaced) Enfermedad por Deficiencia de Lisosoma alfa-1,4-Glucosidasa (es, replaced) Pompe-Krankheit (de, replaced) Morbus Pompe (de, replaced) Lysosomale alpha-1,4-Glukosidase-Mangelkrankheit (de, replaced) Glykogenose II (de, replaced) Saure-Maltase-Mangelkrankheit (de, replaced) Generalisierte Glykogenose (de, replaced) |
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