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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:cryohydrocytosis
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Accession:EFO:MONDO:0008494 term browser browse the term
Definition:A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
Synonyms:exact_synonym: CHC;   hereditary cryohydrocytosis with normal stomatin;   stomatocytosis, cold-sensitive
 related_synonym: pseudohyperkalemia Cardiff
 alt_id: MONDO:0008494
 xref: GARD:10184;   MEDGEN:396137;   MESH:C535827;   MIM:185020;   ORDO:398088;   UMLS:C1861453



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              cryohydrocytosis 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            anemia 0
              normocytic anemia 0
                familial hemolytic anemia 0
                  cryohydrocytosis 0
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