loading...| Preferred Name |
Glycogen Storage Disease Type II |
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| Synonyms |
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| Definitions |
A glycogen storage disease that has material basis in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036661 |
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| Database_Cross_Reference |
ICD10CM:E74.02 MSH:D006009 RCD:X40TX SNOMEDCT_US:124462004 DO:DOID:2752 MTH:NOCODE RCD:X40TW OMIM:606800 OMIM:232300 SNM:D-1253 DRUGBANK:DB06757 SNOMEDCT_US:237968007 NCI:C84734 MDR:10053185 SNOMEDCT_US:190741002 DRUGBANK:DB11136 CSP:1849-3836 DXP:U000732 CHV:0000005609 LNC:LA14037-8 DRUGBANK:DB00126 MTHICD9:271.0 NDFRT:N0000001362 MEDCIN:33550 SNOMEDCT_US:76219003 MDR:10045253 SNOMEDCT_US:237967002 SNOMEDCT_US:124454007 RCD:XE11G DRUGBANK:DB01593 DXP:NOCODE RCDAE:XE11G MDR:10036143 SNOMEDCT_US:267424007 DRUGBANK:DB11135 |
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| Definition |
A glycogen storage disease that has material basis in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. |
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| label |
Glycogen Storage Disease Type II |
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| MCID |
MC00005744 |
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| PMOID |
PMO:00036661 |
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| prefixIRI |
pmo:PMO_00036661 |
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| prefLabel |
Glycogen Storage Disease Type II |
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| Synonym |
LYSOSOMAL ALPHA 1 4 GLUCOSIDASE DEFIC DIS Glycogenosis, Generalized GLYCOGEN STORAGE DISEASE II GAA Deficiency Deficiency of glucosidosucrase Glycogenosis: [generalised] or [Pompe's disease] or [type 2] Disease, Pompe Deficiency of glucan 1,4-alpha-glucosidase GAA Deficiency of maltase-glucoamylase Glycogenosis 2 deficiency of maltase Acid Maltase Deficiency Disease Amd Generalized Glycogenosis Glycogenoses, Generalized Deficiency, Acid Alpha-Glucosidase Pompe Disease Deficiency, GAA Alpha-Glucosidase Deficiency deficiency of glucoamylase Type IIs, Glycogenosis Glycogen Storage Disease II Deficiency Disease, Acid Maltase Lysosomal alpha 1,4 Glucosidase Deficiency Disease generalized glycogenosis Generalized glycogenosis (disorder) alpha 1,4 glucosidase deficiency glycogen storage disease type ii DEFIC DIS ACID MALTASE alpha-Glucosidase deficiency Glycogenosis: [generalized] or [Pompe's disease] or [type 2] Lysosomal alpha-1,4-Glucosidase Deficiency Disease pompe disease Lysosom alpha-1,4-glucosid def GLYCOGEN STORAGE DIS II pompe's disease Deficiency of alpha-glucosidase Type II, Glycogenosis GLYCOGENOSIS, TYPE II Alpha-Glucosidase Deficiencies, Acid Acid Alpha-Glucosidase Deficiency AMD - Acid maltase deficiency Pompe's disease Glycogen heart disease GSD2s Deficiency of maltase Alpha-Glucosidase Deficiency, Acid Glycogenosis, type 2 Glycogen Storage Disease Type II [Disease/Finding] GLYCOGEN STORAGE DISEASE TYPE II ACID ALPHA-GLUCOSIDASE DEFICIENCY POMPE DISEASE Deficiency of Alpha-Glucosidase Glycogen storage disease, type II [Ambiguous] Acid maltase deficiency Glycogen storage disease type II POMPE DIS ACID MALTASE DEFIC DIS glycogen storage disease type II (diagnosis) Deficiencies, GAA Glycogenosis Type II Deficiency of alpha-glucosidase (disorder) Lysosomal alpha-1,4-glucosidase deficiency (disorder) ALPHA GLUCOSIDASE DEFICIENCY Deficiencies, Acid Alpha-Glucosidase Lysosomal alpha-1,4-glucosidase deficiency Pompes Disease Generalised glycogenosis GENERALIZED GLYCOGENOSIS glycogenosis type II Deficiency of amyloglucosidase Disease, Pompe's ALPHA-1,4-GLUCOSIDASE DEFICIENCY Glycogen Storage Disease Type 2 Deficiency of glucoinvertase ACID MALTASE DEFICIENCY pompes disease Deficiency of Alpha Glucosidase GSD2 Deficiency of glucan 1,4-alpha-glucosidase (disorder) maltase acid deficiency 2 glycogenosis Deficiency of lysosomal alpha-glucosidase Deficiency of exo-1,4-alpha-glucosidase disease pompe's LYSOSOMAL ALPHA GLUCOSIDASE DEFICIENCY DISEASE 01 04 Acid Alpha Glucosidase Deficiency LYSOSOMAL GLUCOSIDASE DEFICIENCY alpha-1,4-Glucosidase deficiency Pompe's Disease POMPES DIS glycogen storage disease II GSD type II Pompe disease acid maltase deficiency DEFIC DIS LYSOSOMAL ALPHA 1 4 GLUCOSIDASE GLYCOGENOSIS 02 Generalized glycogenosis GSD II Deficiency of glucoamylase GAA Deficiencies Deficiency of gamma-amylase AMD Glycogen storage disease II Glycogen storage disease, type II (disorder) ALPHA-GLUCOSIDASE DEFICIENCY Glycogen storage disease, type II Generalized Glycogenoses maltase deficiency Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Type II glycogen storage disease GAA DEFICIENCY Deficiency of acid maltase Alpha-Glucosidase Deficiencies Acid Alpha-Glucosidase Deficiencies Glycogenosis: [generalised] or [Pompe's disease] or [type 2] (disorder) glycogen storage disease type II |
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| Tree Number |
T9.21.15.5.17.2.19.3 T9.11.1.12.8.19.3 T9.11.1.12.3.7.3 T9.8.4.14.8.19.3 T9.11.1.6.2.19.3 T9.8.4.14.3.7.3 T9.11.1.12.15.8.7 T9.8.4.14.15.8.7 |
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| subClassOf |