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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 V
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Accession:DOID:2746 term browser browse the term
Definition:Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Synonyms:exact_synonym: GSD V;   GSD5;   Glycogen Storage Disease Type 5;   Glycogenosis 5;   McArdle Disease;   McArdle Type Glycogen Storage Disease;   McArdle syndromes;   McArdle's Disease;   McArdles Disease;   Mcardle Syndrome;   Muscle Glycogen Phosphorylase Deficiency;   Muscle Phosphorylase Deficiencies;   Muscle Phosphorylase Deficiency;   Myophosphorylase deficiencies;   Myophosphorylase deficiency;   PYGM Deficiencies;   PYGM deficiency;   glycogen storage disease type V
 narrow_synonym: MCARDLE DISEASE, MILD
 primary_id: MESH:D006012
 alt_id: OMIM:232600
 xref: GARD:6528;   ICD10CM:E74.04;   NCI:C84738;   ORDO:368
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12666117 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISS OMIM:232600 MouseDO NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO DNA:deletion:exon
ClinVar Annotator: match by term: Glycogen storage disease, type V
ClinVar Annotator: match by OMIM:232600
ClinVar Annotator: match by term: McArdle disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1067063, PMID:2391551, PMID:2703328, PMID:3458722, PMID:3466902, PMID:3476861, PMID:4513544, PMID:7951211, PMID:7951262, PMID:8279469, PMID:8316268, PMID:8401511, PMID:8535454, PMID:9120482, PMID:9131647, PMID:9152836, PMID:9506549, PMID:9633816, PMID:9674815, PMID:10417800, PMID:10450796, PMID:10590419, PMID:10679948, PMID:10681080, PMID:10714589, PMID:11168025, PMID:11706962, PMID:11749054, PMID:12031624, PMID:12223025, PMID:12398832, PMID:12508303, PMID:12666117, PMID:12929201, PMID:14568816, PMID:14638972, PMID:14722619, PMID:14748827, PMID:15979037, PMID:16154688, PMID:16786513, PMID:16793208, PMID:16924035, PMID:17172620, PMID:17221871, PMID:17324573, PMID:17404776, PMID:17630210, PMID:17705025, PMID:17915571, PMID:17994553, PMID:18067156, PMID:18162322, PMID:18380285, PMID:18641458, PMID:19232494, PMID:19251976, PMID:19433441, PMID:19472443, PMID:19670320, PMID:20301518, PMID:21658951, PMID:21802952, PMID:21880526, PMID:22250184, PMID:22730558, PMID:22818872, PMID:22832773, PMID:22899091, PMID:23653251, PMID:24033266, PMID:24503134, PMID:25044680, PMID:25045239, PMID:25240406, PMID:25525159, PMID:25740218, PMID:25741863, PMID:25741868, PMID:25873271, PMID:25914343, PMID:25987006, PMID:26032558, PMID:26633542, PMID:26913921, PMID:26944031, PMID:28492532, PMID:28967462, PMID:29143597, PMID:29382405, PMID:30415384, PMID:31319225, PMID:9633816 RGD:1599985 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
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
          carbohydrate metabolic disorder 393
            glycogen metabolism disorder 79
              glycogen storage disease 79
                glycogen storage disease V 3
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  glycogen storage disease V 3
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.