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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 and lipase deficiency
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Accession:DOID:0080217 term browser browse the term
Definition:A lipid storage disease characterized by lysosomal and lipase deficiency. (DO)
Synonyms:exact_synonym: CESD;   LAL deficiency;   LIPA deficiency;   acid cholesteryl ester hydrolase deficiency, type 2;   acid lipase disease;   cholesterol ester hydrolase deficiency;   lysosomal acid lipase deficiency
 primary_id: MESH:C531854
 alt_id: OMIM:278000
For additional species annotation, visit the Alliance of Genome Resources.



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lysosomal and 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 OMIM
ClinVar
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 More... NCBI chr 1:232,024,351...232,167,329
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
ClinVar
RGD
PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... RGD:1600621 NCBI chr 1:232,024,351...232,167,329
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 Lipa lipase A, lysosomal acid type ISO
ISS
ClinVar Annotator: match by term: Wolman disease ClinVar
MouseDO
RGD
PMID:1056246 PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 More... RGD:1600621, RGD:1600620 NCBI chr 1:232,024,351...232,167,329
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 18246
    Nutritional and Metabolic Diseases 6810
      disease of metabolism 6810
        lipid metabolism disorder 1178
          lipid storage disease 656
            lysosomal and lipase deficiency 6
              Wolman disease + 1
              cholesterol ester storage disease + 6
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          inherited metabolic disorder 4713
            lipid metabolism disorder 1178
              lipid storage disease 656
                lysosomal and lipase deficiency 6
                  Wolman disease + 1
                  cholesterol ester storage disease + 6
paths to the root