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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:lysosomal acid lipase deficiency
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Accession:EFO:0700022 term browser browse the term
Definition:Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
Comment:Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
Synonyms:exact_synonym: LAL deficiency
 xref: DOID:0080217;   GARD:12097;   MEDGEN:1807768;   MESH:C531854;   MIM:278000;   MIM:PS278000;   MONDO:0800449;   ORDO:275761;   SCTID:715923003;   UMLS:C5574740;   icd11.foundation:381622932


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            syndromic dyslipidemia 0
              lysosomal acid lipase deficiency 0
                Wolman disease 0
                cholesteryl ester storage disease 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  lysosomal acid lipase deficiency 0
                    Wolman disease 0
                    cholesteryl ester storage disease 0
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