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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: MIM: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 19076
    physical disorder 5183
      autosomal recessive congenital ichthyosis 57
        Chanarin-Dorfman syndrome 22
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            skin disease 4190
              keratosis 191
                ichthyosis 97
                  autosomal recessive congenital ichthyosis 57
                    Chanarin-Dorfman syndrome 22
                      Neutral Lipid Storage Disease with Myopathy 1
paths to the root