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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:Neutral Lipid Storage Disease with Myopathy
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Accession:DOID:9004438 term browser browse the term
Synonyms:exact_synonym: NLSDM;   neutral lipid storage disease without ichthyosis
 primary_id: MESH:C565192
 alt_id: OMIM:610717
For additional species annotation, visit the Alliance of Genome Resources.


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Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla2 patatin-like phospholipase domain containing 2 ISO OMIM NCBI chr 7:141,455,188...141,460,743
Ensembl chr 7:141,455,198...141,460,743
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    physical disorder 3096
      autosomal recessive congenital ichthyosis 29
        neutral lipid storage disease 3
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 14453
    disease of anatomical entity 14044
      nervous system disease 11602
        peripheral nervous system disease 2530
          neuropathy 2341
            neuromuscular disease 1854
              muscular disease 1249
                muscle tissue disease 840
                  myopathy 675
                    Neutral Lipid Storage Disease with Myopathy 1
paths to the root