ONTOLOGY REPORT - ANNOTATIONS


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
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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

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Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Infant, Newborn, Diseases 405
          Wolman disease 1
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              lipid storage disease 343
                lysosomal and lipase deficiency 1
                  cholesterol ester storage disease 1
                    Wolman disease 1
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.