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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;   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 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 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31883530 NCBI chr 8:130,973,222...131,001,448
Ensembl chr 8:130,973,201...131,001,458
JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:16644682 PMID:17187067 PMID:18445597 PMID:20370797 PMID:21170305 PMID:21544567 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25741868 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
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 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Skin Abnormalities 654
              ichthyosis 107
                autosomal recessive congenital ichthyosis 29
                  neutral lipid storage disease 3
                    Neutral Lipid Storage Disease with Myopathy 1
paths to the root