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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000001362
http://purl.bioontology.org/ontology/NDFRT/N0000001362
|
|---|---|
| Preferred Name | Glycogen Storage Disease Type II [Disease/Finding] |
| Synonyms |
Pompe Disease
Glycogenosis Type II
Generalized Glycogenosis
Glycogen Storage Disease Type II
Glycogenosis 2
Acid Maltase Deficiency Disease
Pompe's Disease
Deficiency of Alpha-Glucosidase
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Glycogen Storage Disease Type 2
Glycogen Storage Disease II
Acid Alpha-Glucosidase Deficiency
Deficiency Disease, Acid Maltase
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
GSD II
GAA Deficiency
GSD2
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Pompe Disease
Glycogenosis Type II
Generalized Glycogenosis
Glycogen Storage Disease Type II
Glycogenosis 2
Acid Maltase Deficiency Disease
Pompe's Disease
Deficiency of Alpha-Glucosidase
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Glycogen Storage Disease Type 2
Glycogen Storage Disease II
Acid Alpha-Glucosidase Deficiency
Deficiency Disease, Acid Maltase
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
GSD II
GAA Deficiency
GSD2
See more
See less
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| prefLabel | Glycogen Storage Disease Type II [Disease/Finding]
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| MESH DEFINITION | 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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| MESH DUI | D006009
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| MESH UI | M0009470
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| MeSH name | Glycogen Storage Disease Type II
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| type | |
| tui | T047
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| SNOMED CID |
124462004
267424007
124454007
274864009
237967002
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| May be treated by | |
| notation | N0000001362
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| Semantic type UMLS property | |
| NUI | N0000001362
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| cui | C0017921
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
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