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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:Wolman disease
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Accession:DOID:14497 term browser browse the term
Definition:The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Synonyms:exact_synonym: Acid Lipase Deficiency;   Familial Xanthomatoses;   Familial Xanthomatosis;   Liposomal Acid Lipase Deficiency, Wolman Type;   Wolman xanthomatosis;   Wolman's Disease;   Wolman's Xanthomatosis;   Wolman's or triglyceride storage type III disease;   Wolmans disease;   Wolmans xanthomatosis;   acid cholesteryl ester hydrolase deficiency, Wolman type;   acid esterase deficiency
 primary_id: MESH:D015223
 alt_id: RDO:0000244
 xref: GARD:7899;   ICD10CM:E75.5;   NCI:C61271
For additional species annotation, visit the Alliance of Genome Resources.


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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
PMID:7499245 PMID:8146180 PMID:8598644 PMID:8617513 PMID:8956047 PMID:9367797 PMID:9536098 PMID:9554751 PMID:10562460 PMID:10627498 PMID:16255772 PMID:17576681 PMID:21963785 PMID:22138108 PMID:23430518 PMID:25741868 PMID:26252914 PMID:28492532 PMID:28502505 PMID:29196158, PMID:6097111, PMID:8146180 RGD:1600621, RGD:1600620 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        Infant, Newborn, Diseases 513
          Wolman disease 1
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          inherited metabolic disorder 2447
            lipid metabolism disorder 927
              lipid storage disease 519
                lysosomal and lipase deficiency 1
                  cholesterol ester storage disease 1
                    Wolman disease 1
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
paths to the root