Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY;   LSMFLAD;   Lipid Storage Myopathy
 primary_id: MESH:C562935;   RDO:0012437
 alt_id: OMIM:255100
For additional species annotation, visit the Alliance of Genome Resources.


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 Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency ClinVar
OMIM
PMID:27259049 NCBI chr 2:188,726,994...188,736,462
Ensembl chr 2:188,726,994...188,736,462
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
        lipid metabolism disorder 899
          Myopathy with Abnormal Lipid Metabolism 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    muscular dystrophy 331
                      Myopathy with Abnormal Lipid Metabolism 1
paths to the root

NHLBI Logo

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