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ONTOLOGY REPORT - ANNOTATIONS


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;   Ichthyosiform erythroderma with leukocyte vacuolation;   Ichthyotic neutral lipid storage disease;   NLSDI;   Neutral Lipid Storage Disease With Ichthyosis;   Neutral lipid storage myopathy;   Triglyceride Storage Disease with Ichthyosis;   Triglyceride storage disease with impaired long-chain fatty acid oxidation
 primary_id: MESH:C536560
 alt_id: OMIM:275630;   RDO:0002178
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neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:7240710
RGD:8554872
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla2 patatin-like phospholipase domain containing 2 JBrowse link 1 214,434,638 214,439,720 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 736
          neutral lipid storage disease 3
            Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                autosomal recessive congenital ichthyosis 27
                  neutral lipid storage disease 3
                    Neutral Lipid Storage Disease with Myopathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.