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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:Chanarin-Dorfman syndrome
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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;   DCS;   NLSDI;   ichthyosiform erythroderma with leukocyte vacuolation;   ichthyotic neutral lipid storage disease;   neutral lipid storage disease;   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
 xref: GARD:3979;   ORDO:98907


show annotations for term's descendants           Sort by:
Chanarin-Dorfman syndrome 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: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM
ClinVar		 PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 More... NCBI chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583 		JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:25741868 PMID:28492532 NCBI chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,782,012...25,783,897 JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,711,683...25,733,144
Ensembl chr18:25,711,706...25,733,069 		JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,766,688...25,777,075 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,663,814...25,669,420
Ensembl chr18:25,663,814...25,668,768 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,680,015...25,708,834
Ensembl chr18:25,680,342...25,708,502 		JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 More... NCBI chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268 		JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,670,074...25,672,644
Ensembl chr18:25,668,457...25,672,651 		JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:45,176,539...45,178,270 JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,764,138...25,772,043 JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr18:25,733,400...25,739,682 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 ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35460704 NCBI chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      autosomal recessive congenital ichthyosis 49
        Chanarin-Dorfman syndrome 21
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              keratosis 177
                ichthyosis 88
                  autosomal recessive congenital ichthyosis 49
                    Chanarin-Dorfman syndrome 21
                      Neutral Lipid Storage Disease with Myopathy 1
paths to the root