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
Accession: DOID:14502
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 .
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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 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:24295952 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29958253 PMID:30684275 PMID:31182375 PMID:31230978 PMID:31392116 PMID:6097111 More...
RGD:1600621
NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
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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
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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
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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
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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
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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
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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 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8894696 PMID:8956047 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30249571 PMID:30270055 PMID:30665623 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:31412917 PMID:32041611 PMID:32382506 PMID:8146180 PMID:6097111 More...
RGD:1600620 , RGD:1600621
NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
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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
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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
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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 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:29196158 PMID:29958253 PMID:31182375 PMID:31392116 PMID:32041611 More...
NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
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