Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:275630
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM
CTD
MouseDO
ClinVar
PMID:3354610 PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 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:25741868 PMID:28492532 NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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 chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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 chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:35460704 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 18970
    physical disorder 4974
      autosomal recessive congenital ichthyosis 54
        Chanarin-Dorfman syndrome 22
          Neutral Lipid Storage Disease with Myopathy 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            skin disease 4070
              keratosis 188
                ichthyosis 94
                  autosomal recessive congenital ichthyosis 54
                    Chanarin-Dorfman syndrome 22
                      Neutral Lipid Storage Disease with Myopathy 1
paths to the root