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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

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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 chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		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 chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
G Tspo translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chrNW_004955413:28,309,105...28,315,075
Ensembl chrNW_004955413:28,308,658...28,315,075 		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 chrNW_004955425:3,581,705...3,588,528 JBrowse link
G Ifit2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chrNW_004955425:3,685,626...3,692,482
Ensembl chrNW_004955425:3,682,327...3,692,397 		JBrowse link
G Ifit3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chrNW_004955425:3,671,303...3,692,478 JBrowse link
G Ifit5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chrNW_004955425:3,569,448...3,575,043 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 chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
G Slc16a12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chrNW_004955425:3,474,814...3,560,138
Ensembl chrNW_004955425:3,509,142...3,560,138 		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 chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6694
      disease of metabolism 6694
        lipid metabolism disorder 1461
          lipid storage disease 730
            lysosomal acid lipase deficiency 7
              Wolman disease + 6
              cholesterol ester storage disease + 7
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9437
            autosomal genetic disease 8755
              autosomal recessive disease 6139
                lysosomal acid lipase deficiency 7
                  Wolman disease + 6
                  cholesterol ester storage disease + 7
paths to the root