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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 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    physical disorder 3128
      autosomal recessive congenital ichthyosis 30
        neutral lipid storage disease 3
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        peripheral nervous system disease 2586
          neuropathy 2377
            neuromuscular disease 1890
              muscular disease 1291
                muscle tissue disease 835
                  myopathy 671
                    Neutral Lipid Storage Disease with Myopathy 1
paths to the root