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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


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:35460704 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      autosomal recessive congenital ichthyosis 51
        Chanarin-Dorfman syndrome 22
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              keratosis 185
                ichthyosis 91
                  autosomal recessive congenital ichthyosis 51
                    Chanarin-Dorfman syndrome 22
                      Neutral Lipid Storage Disease with Myopathy 1
paths to the root