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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
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Accession:DOID:0050729 term browser browse the term
Definition:A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)
Synonyms:exact_synonym: CDS;   Chanarin-Dorfman disease;   Chanarin-Dorfman syndrome;   DCS;   Ichthyotic neutral lipid storage disease;   NLSDI;   Neutral Lipid Storage Disease With Ichthyosis;   Neutral lipid storage myopathy;   Triglyceride Storage Disease with Ichthyosis;   ichthyosiform erythroderma with leukocyte vacuolation;   triglyceride storage disease with impaired long-chain fatty acid oxidation
 primary_id: MESH:C536560
 alt_id: OMIM:275630
For additional species annotation, visit the Alliance of Genome Resources.


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neutral lipid storage disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar Annotator: match by OMIM:275630		 OMIM
ClinVar		 PMID:6181472 PMID:11590543 PMID:15136565 PMID:20022472 PMID:20520629 More... NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447 		JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:28492532 NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:9536098 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 More... NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Skin Abnormalities 768
              ichthyosis 62
                autosomal recessive congenital ichthyosis 29
                  neutral lipid storage disease 3
                    Neutral Lipid Storage Disease with Myopathy 1
paths to the root