Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:9554751, PMID:10562460, PMID:10627498, PMID:16255772, 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          Wolman disease 1
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lipid metabolism disorder 900
              lipid storage disease 467
                lysosomal and lipase deficiency 1
                  cholesterol ester storage disease 1
                    Wolman disease 1
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.