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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:Danon disease
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Accession:DOID:0050437 term browser browse the term
Definition:A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)
Synonyms:exact_synonym: Antopol disease;   GSD IIb;   GSD2B;   Glycogen Storage Disease IIb;   Glycogen Storage Disease Limited to the Heart;   Glycogen Storage Disease Type 2B;   LAMP2-RELATED CONDITION;   X-linked vacuolar cardiomyopathy and myopathy;   glycogen storage cardiomyopathies;   glycogen storage cardiomyopathy;   glycogen storage disease type IIB;   lysosomal glycogen storage disease with normal acid maltase;   lysosomal glycogen storage disease without acid maltase deficiency;   pseudoglycogenosis 2;   pseudoglycogenosis II
 primary_id: MESH:D052120
 alt_id: MIM:300257
 xref: EFO:1001333;   GARD:9730;   NCI:C84735


show annotations for term's descendants           Sort by:
Danon disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
ISS
IMP		 ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: LAMP2-related condition
OMIM:300257
CTD Direct Evidence: marker/mechanism
in hemizygote mutant male (LAMP2y/-)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 More... RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        inherited metabolic disorder 6620
          lysosomal storage disease 1058
            Danon disease 14
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    X-Linked Intellectual Developmental Disorders 825
                      Danon disease 14
paths to the root