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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:lysosomal acid lipase deficiency
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Accession:DOID:0080217 term browser browse the term
Definition:A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. (DO)
Synonyms:exact_synonym: CESD;   LAL deficiency;   LAL-D;   LIPA deficiency;   acid cholesteryl ester hydrolase deficiency, type 2;   acid lipase disease;   cholesterol ester hydrolase deficiency
 xref: GARD:12097;   ICD10CM:E75.5;   OMIM:PS278000;   ORDO:275761


show annotations for term's descendants           Sort by:
lysosomal acid lipase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency ClinVar PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease OMIM
ClinVar		 PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
G TSPO translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chr22:24,034,918...24,046,370
Ensembl chr22:42,233,619...42,244,930 		JBrowse link
Wolman disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,027,170...86,034,246
Ensembl chr10:89,566,827...89,573,795 		JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,053,139...86,066,193
Ensembl chr10:89,592,578...89,605,800 		JBrowse link
G IFIT5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,139,816...86,146,244
Ensembl chr10:89,678,703...89,685,839 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease OMIM
ClinVar		 PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
G LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,117,807...86,129,256
Ensembl chr10:89,667,149...89,668,579 		JBrowse link
G LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,094,636...86,109,924
Ensembl chr10:89,648,070...89,649,517 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,155,527...86,187,917
Ensembl chr10:89,696,148...89,727,585 		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 lipase A, lysosomal acid type 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 chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        lipid metabolism disorder 1556
          lipid storage disease 771
            lysosomal acid lipase deficiency 8
              Wolman disease + 7
              cholesterol ester storage disease + 8
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal recessive disease 6559
                lysosomal acid lipase deficiency 8
                  Wolman disease + 7
                  cholesterol ester storage disease + 8
paths to the root