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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial pseudohyperkalemia
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Accession:EFO:MONDO:0012204 term browser browse the term
Definition:An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
Synonyms:exact_synonym: PSHK2;   pseudohyperkalemia, familial, 2, due to red cell leak
 related_synonym: cryohydrocytosis, mild;   pseudohyperkalemia Chiswick;   pseudohyperkalemia East London;   pseudohyperkalemia Falkirk;   pseudohyperkalemia Lille
 alt_id: MONDO:0012204
 xref: GARD:16785;   MEDGEN:324588;   MESH:C563785;   MIM:609153;   ORDO:90044;   SCTID:717254007;   UMLS:C1836705;   icd11.foundation:1653996588


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    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              familial pseudohyperkalemia 0
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            anemia 0
              normocytic anemia 0
                familial hemolytic anemia 0
                  familial pseudohyperkalemia 0
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