Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
go back to main search page
Accession:DOID:9008558 term browser browse the term
Definition:An autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia.
Synonyms:exact_synonym: MMDD;   MUSCLE AMP DEAMINASE DEFICIENCY;   MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO;   MYOPATHY DUE TO AMPD1 DEFICIENCY
 primary_id: OMIM:615511
 xref: NCI:C157504


show annotations for term's descendants           Sort by:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Muscle AMP deaminase deficiency OMIM
ClinVar		 PMID:1631143 PMID:1922051 PMID:8335021 PMID:9536098 PMID:10996775 More... NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        muscular disease 2119
          muscle tissue disease 1275
            myopathy 987
              MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4039
          neuropathy 3848
            neuromuscular disease 3026
              muscular disease 2119
                muscle tissue disease 1275
                  myopathy 987
                    MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
paths to the root