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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:glycogen storage disease II
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Accession:DOID:2752 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AMD;   Acid Alpha Glucosidase Deficiency;   Acid Maltase Deficiency;   Acid Maltase Deficiency Disease;   Adult Glycogen Storage Disease Type II;   Alpha 1,4 Glucosidase Deficiency;   Alpha-1,4-Glucosidase Deficiencies;   Alpha-Glucosidase Deficiencies;   Alpha-Glucosidase Deficiency;   Deficiency of Alpha Glucosidase;   GAA Deficiencies;   GAA Deficiency;   GSD II;   GSD2;   Generalized Glycogenoses;   Generalized Glycogenosis;   Glycogen Storage Disease II, Adult Form;   Glycogen Storage Disease II, Infantile Form;   Glycogen Storage Disease Type 2;   Glycogenosis 2;   Glycogenosis Type II;   Infantile Glycogen Storage Disease Type II;   Juvenile Glycogen Storage Disease Type II;   Lysosomal alpha 1,4 Glucosidase Deficiency Disease;   Pompe Disease;   Pompe's disease;   Pompes disease;   acid alpha-glucosidase deficiencies;   acid maltase deficiencies;   deficiency of glucoamylase;   deficiency of maltase;   glycogen storage disease type II;   glycogenosis type 2;   lysosomal alpha-1,4-glucosidase deficiency
 primary_id: MESH:D006009
 alt_id: OMIA:000419;   OMIM:232300
 xref: GARD:5714;   ICD10CM:E74.02;   NCI:C84734;   ORDO:365
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: Alpha-1,4-glucosidase deficiency
ClinVar Annotator: match by OMIM:232300
ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM
ClinVar
CTD
PMID:1109266, PMID:1652892, PMID:1856189, PMID:1862843, PMID:1895140, PMID:1898413, PMID:2111708, PMID:2203258, PMID:2252923, PMID:2510307, PMID:3049072, PMID:3132435, PMID:5614309, PMID:7603530, PMID:7695647, PMID:7717400, PMID:7881422, PMID:7881425, PMID:7945303, PMID:7981676, PMID:8094613, PMID:8401535, PMID:8429042, PMID:8435067, PMID:8558570, PMID:8604985, PMID:8834250, PMID:8912788, PMID:8935410, PMID:8990003, PMID:9196050, PMID:9259196, PMID:9266392, PMID:9425285, PMID:9521422, PMID:9529346, PMID:9535769, PMID:9554747, PMID:9660056, PMID:9950376, PMID:10189220, PMID:10206684, PMID:10338092, PMID:10377006, PMID:10528311, PMID:10737124, PMID:11053688, PMID:11071489, PMID:11328962, PMID:11343339, PMID:11738358, PMID:11854868, PMID:11927738, PMID:11949932, PMID:12213618, PMID:12601120, PMID:12897283, PMID:12923862, PMID:14643388, PMID:14695532, PMID:14972326, PMID:15048888, PMID:15121988, PMID:15145338, PMID:15366815, PMID:15466083, PMID:15501829, PMID:15668445, PMID:15985590, PMID:15986226, PMID:16433701, PMID:16478160, PMID:16531044, PMID:16580018, PMID:16702877, PMID:16737883, PMID:16782080, PMID:16838077, PMID:16857770, PMID:16860134, PMID:16917947, PMID:17027861, PMID:17041744, PMID:17056254, PMID:17092519, PMID:17151339, PMID:17210890, PMID:17213836, PMID:17573812, PMID:17616415, PMID:17643989, PMID:17723315, PMID:17805474, PMID:17853454, PMID:17915575, PMID:18176891, PMID:18211760, PMID:18285536, PMID:18301443, PMID:18414213, PMID:18425781, PMID:18429042, PMID:18434155, PMID:18458862, PMID:18495398, PMID:18505979, PMID:18535739, PMID:18607768, PMID:18757064, PMID:18995995, PMID:19046416, PMID:19067231, PMID:19343043, PMID:19472353, PMID:19542901, PMID:19588081, PMID:19609281, PMID:19775921, PMID:19790257, PMID:19862843, PMID:19948615, PMID:20033296, PMID:20080426, PMID:20202878, PMID:20301438, PMID:20308911, PMID:20472203, PMID:20559845, PMID:20638881, PMID:20817528, PMID:20826098, PMID:20830524, PMID:21039225, PMID:21109266, PMID:21179066, PMID:21216089, PMID:21228398, PMID:21232767, PMID:21439876, PMID:21471980, PMID:21484825, PMID:21488291, PMID:21488292, PMID:21550241, PMID:21605996, PMID:21631931, PMID:21637107, PMID:21644219, PMID:21676566, PMID:21687968, PMID:21704464, PMID:21757382, PMID:21803581, PMID:21889385, PMID:21920843, PMID:21926084, PMID:21940687, PMID:21963784, PMID:21972175, PMID:21982629, PMID:21984055, PMID:22027144, PMID:22081099, PMID:22194990, PMID:22196155, PMID:22237443, PMID:22252923, PMID:22253258, PMID:22521436, PMID:22538254, PMID:22555271, PMID:22595200, PMID:22613277, PMID:22644586, PMID:22658377, PMID:22676651, PMID:22704482, PMID:22711147, PMID:22791670, PMID:22958975, PMID:22980766, PMID:22990675, PMID:23000108, PMID:23013746, PMID:23062590, PMID:23146291, PMID:23147228, PMID:23160972, PMID:23266370, PMID:23350563, PMID:23402890, PMID:23418865, PMID:23430493, PMID:23430847, PMID:23430912, PMID:23430949, PMID:23463700, PMID:23531252, PMID:23566438, PMID:23601496, PMID:23632029, PMID:23632174, PMID:23668440, PMID:23757202, PMID:23787031, PMID:23825616, PMID:23843830, PMID:23884227, PMID:24008051, PMID:24008937, PMID:24011652, PMID:24016645, PMID:24027232, PMID:24033266, PMID:24107549, PMID:24150945, PMID:24158270, PMID:24169249, PMID:24190153, PMID:24215330, PMID:24245577, PMID:24269976, PMID:24273659, PMID:24337590, PMID:24338761, PMID:24383498, PMID:24384324, PMID:24395639, PMID:24444888, PMID:24495340, PMID:24513544, PMID:24590251, PMID:24627108, PMID:24715333, PMID:24844452, PMID:24872213, PMID:24923245, PMID:24976573, PMID:25026126, PMID:25036864, PMID:25037089, PMID:25052852, PMID:25093132, PMID:25103075, PMID:25139343, PMID:25155446, PMID:25213570, PMID:25243733, PMID:25326635, PMID:25356970, PMID:25388776, PMID:25396301, PMID:25409744, PMID:25451853, PMID:25455803, PMID:25466677, PMID:25488666, PMID:25525159, PMID:25526786, PMID:25544546, PMID:25612604, PMID:25614309, PMID:25626711, PMID:25673129, PMID:25681614, PMID:25687635, PMID:25703594, PMID:25712382, PMID:25741864, PMID:25741868, PMID:25752415, PMID:25783438, PMID:25786784, PMID:25846667, PMID:25998610, PMID:26031770, PMID:26160551, PMID:26167453, PMID:26199952, PMID:26231297, PMID:26253708, PMID:26310554, PMID:26349193, PMID:26497565, PMID:26572913, PMID:26575883, PMID:26693141, PMID:26830551, PMID:26873529, PMID:26946079, PMID:27008195, PMID:27099502, PMID:27142047, PMID:27170567, PMID:27183828, PMID:27189384, PMID:27193587, PMID:27344650, PMID:27363342, PMID:27417441, PMID:27623443, PMID:27649523, PMID:27666774, PMID:27692865, PMID:27708273, PMID:27711114, PMID:27896092, PMID:27927596, PMID:28032299, PMID:28182897, PMID:28196920, PMID:28394184, PMID:28433475, PMID:28450385, PMID:28490439, PMID:28492532, PMID:28592009, PMID:28600779, PMID:28648663, PMID:28657663, PMID:28763149, PMID:28838325, PMID:28957316, PMID:29044175, PMID:29046207, PMID:29061980, PMID:29122469, PMID:29124014, PMID:29143201, PMID:29149851, PMID:29181627, PMID:29205646, PMID:29289479, PMID:29422078, PMID:29428273, PMID:29451150, PMID:29573408, PMID:29637184, PMID:29653542, PMID:29869463, PMID:30023291, PMID:30049495, PMID:30105547, PMID:30155607, PMID:30214072, PMID:30311386, PMID:30442156, PMID:30510819, PMID:30564623, PMID:30595407, PMID:31076647, PMID:31086307, PMID:31193175, PMID:31254424, PMID:31342611, PMID:31467850, PMID:31510962, PMID:31743840, PMID:32012848, PMID:32317649, PMID:32860008 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa
ClinVar PMID:2203258, PMID:8912788, PMID:16838077, PMID:18414213, PMID:20080426, PMID:23430949, PMID:23757202, PMID:25243733, PMID:25525159, PMID:25741868, PMID:27623443, PMID:28196920, PMID:28492532, PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          Metabolic Brain Diseases, Inborn 505
            Lysosomal Storage Diseases, Nervous System 65
              glycogen storage disease II 3
                Cardiac Form of Generalized Glycogenosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                Lysosomal Storage Diseases, Nervous System 65
                  glycogen storage disease II 3
                    Cardiac Form of Generalized Glycogenosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.