FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:1600621
RGD:1600620
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Infant, Newborn, Diseases 403
          Wolman disease 1
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            lipid metabolism disorder 721
              lipid storage disease 342
                lysosomal and lipase deficiency 1
                  cholesterol ester storage disease 1
                    Wolman disease 1
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
paths to the root