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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:cholesterol ester storage disease
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Accession:DOID:14502 term browser browse the term
Definition:A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. (DO)
Synonyms:exact_synonym: cholesteryl ester storage disease;   partial LAL deficiency;   partial LIPA deficiency;   partial cholesterol ester hydrolase deficiency;   partial lysosomal acid lipase deficiency
 primary_id: MESH:D015217
 alt_id: OMIM:278000
 xref: GARD:12099;   ORDO:75234
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
cholesterol ester storage disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lysosomal acid lipase A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholesteryl ester storage disease
OMIM
CTD
ClinVar
RGD
PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 More... RGD:1600621 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
JBrowse link
G Tspo translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chr15:83,447,774...83,458,404
Ensembl chr15:83,447,793...83,458,404
JBrowse link
Wolman disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifit1 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr19:34,618,289...34,627,409
Ensembl chr19:34,618,271...34,627,409
JBrowse link
G Ifit1bl1 interferon induced protein with tetratricpeptide repeats 1B like 1 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr19:34,570,288...34,640,382
Ensembl chr19:34,570,291...34,579,356
JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr19:34,527,961...34,553,934
Ensembl chr19:34,528,094...34,553,819
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr19:34,560,519...34,566,382
Ensembl chr19:34,560,931...34,566,131
JBrowse link
G Lipa lysosomal acid lipase A ISO
IAGP
ClinVar Annotator: match by term: CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: Wolman disease OMIM
ClinVar
MouseDO
RGD
PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 More... RGD:1600620, RGD:1600621 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
JBrowse link
G Or5an1 olfactory receptor family 5 subfamily AN member 1 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr19:12,257,218...12,261,352
Ensembl chr19:12,257,218...12,262,990
JBrowse link
G Slc16a12 solute carrier family 16 (monocarboxylic acid transporters), member 12 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr19:34,645,801...34,725,223
Ensembl chr19:34,645,803...34,724,689
JBrowse link
Wolman Disease with Hypolipoproteinemia and Acanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lysosomal acid lipase A ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 More... NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    Nutritional and Metabolic Diseases 7385
      disease of metabolism 7385
        lipid metabolism disorder 1601
          lipid storage disease 817
            lysosomal acid lipase deficiency 8
              cholesterol ester storage disease 8
                Wolman disease + 7
Path 2
Term Annotations click to browse term
  disease 18296
    Developmental Disease 17904
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17775
        genetic disease 17749
          monogenic disease 10305
            autosomal genetic disease 9474
              autosomal recessive disease 6544
                lysosomal acid lipase deficiency 8
                  cholesterol ester storage disease 8
                    Wolman disease + 7
paths to the root