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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:glycogen storage disease due to aldolase A deficiency
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Accession:EFO:MONDO:0012747 term browser browse the term
Definition:Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
Synonyms:exact_synonym: GSD due to aldolase A deficiency;   GSD type 12;   GSD type XII;   glycogen storage disease type 12;   glycogen storage disease type XII;   glycogenosis due to aldolase A deficiency;   glycogenosis type 12;   glycogenosis type XII
 related_synonym: Aldoa deficiency;   GSD 12;   GSD12;   aldolase a deficiency;   aldolase deficiency red cell;   glycogen storage disease 12;   glycogen storage disease XII
 alt_id: MONDO:0012747
 xref: GARD:600;   ICD9:282.3;   MEDGEN:82895;   MESH:C562718;   MIM:611881;   NANDO:1200834;   ORDO:57;   SCTID:111578003;   UMLS:C0272066;   icd11.foundation:1020924235


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Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              glycogen storage disease due to aldolase A deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      quality 0
        phenotype 0
          Phenotypic abnormality 0
            Abnormality of blood and blood-forming tissues 0
              Abnormal erythrocyte morphology 0
                anemia (phenotype) 0
                  anemia due to enzyme disorder 0
                    anemia due to erythrocyte enzyme disorder 0
                      glycogen storage disease due to aldolase A deficiency 0
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