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 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
Advanced Search (OLGA)

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 with Abnormal Lipid Metabolism
go back to main search page
Accession:DOID:9002543 term browser browse the term
Synonyms:exact_synonym: FLAD1-RELATED CONDITION;   LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY;   LSMFLAD;   Lipid Storage Myopathy
 primary_id: MESH:C562935;   RDO:0012437
 alt_id: MIM:255100


show annotations for term's descendants           Sort by:
Myopathy with Abnormal Lipid Metabolism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Lipid storage myopathy ClinVar PMID:28492532 NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FLAD1-related condition | ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27259049 PMID:28492532 PMID:30982706 PMID:31392824 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    Nutritional and Metabolic Diseases 8548
      disease of metabolism 8548
        lipid metabolism disorder 1909
          Myopathy with Abnormal Lipid Metabolism 2
Path 2
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      nervous system disease 14359
        peripheral nervous system disease 4387
          neuropathy 4175
            neuromuscular disease 3222
              muscular disease 2230
                muscle tissue disease 1355
                  atrophic muscular disease 675
                    Brody myopathy 671
                      muscular dystrophy 655
                        Myopathy with Abnormal Lipid Metabolism 2
paths to the root