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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 ISS
ISO		 OMIM:278000
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency		 MouseDO
ClinVar		 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 More... NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholesteryl ester storage disease		 CTD
OMIM
ClinVar
RGD		 PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 More... RGD:1600621 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Tspo translocator protein IMP RGD PMID:29074640 RGD:150429771 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
G Tspoem1Vpl translocator protein; ZFN induced mutant1, Vpl IMP RGD PMID:29074640 RGD:150429771
G Tspoem2Vpl translocator protein; ZFN induced mutant2, Vpl IMP RGD PMID:29074640 RGD:150429771
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 chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435 		JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635 		JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO
ISS		 ClinVar Annotator: match by term: Wolman disease ClinVar
MouseDO
OMIM
RGD		 PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 More... RGD:1600621, RGD:1600620 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141 		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 chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          lipid storage disease 830
            lysosomal acid lipase deficiency 10
              Wolman disease + 5
              cholesterol ester storage disease + 10
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                lysosomal acid lipase deficiency 10
                  Wolman disease + 5
                  cholesterol ester storage disease + 10
paths to the root