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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 2:513,065...517,962
Ensembl chr 2:513,076...518,187
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13608
    physical disorder 2948
      autosomal recessive congenital ichthyosis 25
        neutral lipid storage disease 3
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 13608
    disease of anatomical entity 13264
      nervous system disease 11034
        peripheral nervous system disease 2411
          neuropathy 2234
            neuromuscular disease 1764
              muscular disease 1177
                muscle tissue disease 782
                  myopathy 618
                    Neutral Lipid Storage Disease with Myopathy 1
paths to the root