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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:Myopathy with Abnormal Lipid Metabolism
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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.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        lipid metabolism disorder 908
          Myopathy with Abnormal Lipid Metabolism 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      Myopathy with Abnormal Lipid Metabolism 1
paths to the root