glycogen storage disease II English (Q1365789)

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human disease English
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Language Label Description Also known as
English
glycogen storage disease II
human disease
  • Pompe disease
  • acid maltase deficiency
  • Generalized glycogenosis (disorder)
  • Glycogen storage disease, type II (disorder)
  • Glycogenosis, type 2
  • Lysosomal alpha-1,4-glucosidase deficiency (disorder)
  • Pompe's disease
  • deficiency of glucoamylase
  • deficiency of maltase
  • glycogen storage disease type II
  • Lysosomal alpha-1,4-glucosidase deficiency
  • Glycogen storage disease, type II
  • Generalized glycogenosis
  • Glycogen storage disease type 2
  • Alpha-1,4-glucosidase acid deficiency
  • GLYCOGEN STORAGE DISEASE II
  • Gsd 2
  • Glycogenosis type 2
  • Gaa Deficiency
  • Cardiomegalia Glycogenica Diffusa
  • GSD2
  • GSD type II
  • GSD due to acid maltase deficiency
  • GSD type 2
  • Glycogenosis type II
  • Glycogenosis due to acid maltase deficiency
  • Alpha-1,4-Glucosidase Deficiency
  • GLYCOGEN STORAGE DISEASE II; GSD2
  • Glycogen storage disease due to acid maltase deficiency
  • Glycogenosis, Generalized, Cardiac Form

Statements

instance of English
rare disease English
0 references
class of disease English
0 references
subclass of English
glycogen storage disease English
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
DOID:2752
hypertrophic cardiomyopathy English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0009290
muscular glycogenosis English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0009290
disease English
0 references
image English
Pompe vacuoles.jpg
2,080 × 1,542; 761 KB
0 references
health specialty English
endocrinology English
0 references
drug or therapy used for treatment English
alglucosidase alfa English
1 reference
stated in English
Drug Indications Extracted from FAERS English
retrieved English
2 October 2018
ICPC 2 ID English
T99
1 reference
imported from Wikimedia project English
Spanish Wikipedia English
NCI Thesaurus ID English
C84734
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:2752
Commons category English
Glycogen storage disease type II
0 references

Identifiers

NL CR AUT ID English
ph944185
subject named as English
Pompeho nemoc
0 references
MeSH descriptor ID English
D006009
mapping relation type English
exact match English
subject named as English
Glycogen Storage Disease Type II
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
Mondo ID English
MONDO_0009290
retrieved English
28 July 2018
KEGG ID English
H01940
0 references
Disease Ontology ID English
DOID:2752
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
DOID:2752
DiseasesDB English
eMedicine ID English
119506
0 references
Encyclopædia Britannica Online ID English
science/Pompes-disease
subject named as English
Pompe’s disease
0 references
Freebase ID English
/m/03yy2r
1 reference
stated in English
Freebase Data Dumps English
publication date English
28 October 2013
GARD rare disease ID English
5714
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:2752
ICD-10-CM English
E74.02
2 references
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:2752
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0009290
E74.0
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0009290
ICD-9 ID English
Microsoft Academic ID English
2776735236
0 references
2909802660
0 references
Mondo ID English
MONDO_0009290
0 references
OMIM ID English
232300
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:2752
Orphanet ID English
365
mapping relation type English
exact match English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0009290
Quora topic ID English
Pompe-Disease
0 references
UMLS CUI English
C2931347
mapping relation type English
close match English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0009290
C0017921
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:2752
UniProt disease ID English
DI-00522
0 references
 
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