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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
For additional species annotation, visit the Alliance of Genome Resources.

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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 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          neutral lipid storage disease 3
            Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                autosomal recessive congenital ichthyosis 27
                  neutral lipid storage disease 3
                    Neutral Lipid Storage Disease with Myopathy 1
paths to the root

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