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Term:Norum disease
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Accession:DOID:1391 term browser browse the term
Definition:An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
Synonyms:exact_synonym: Dyslipoproteinemic Corneal Dystrophy;   FED;   Fish Eye Disease;   LCAT Deficiency;   LCATA Deficiencies;   LCATA Deficiency;   Lecithin Cholesterol Acyltransferase Deficiency;   alpha LCAT Deficiency;   alpha Lecithin Cholesterol Acyltransferase Deficiency;   lecithin acyltransferase deficiency
 primary_id: MESH:D007863;   RDO:0003761
 alt_id: OMIM:136120;   OMIM:245900
 xref: ICD10CM:E78.6;   NCI:C84813
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Norum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lcat lecithin cholesterol acyltransferase JBrowse link 19 37,913,333 37,916,799 RGD:1581778
G Slc12a4 solute carrier family 12 member 4 JBrowse link 19 37,917,003 37,938,952 RGD:8554872

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Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        lipid metabolism disorder 751
          hypolipoproteinemia 15
            Norum disease 2
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            lipid metabolism disorder 751
              Dyslipidemias 283
                hypolipoproteinemia 15
                  Hypoalphalipoproteinemias 4
                    Norum disease 2
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