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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
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Accession:EFO:MONDO:0009946 term browser browse the term
Definition:Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Synonyms:exact_synonym: P5N deficiency;   uridine 5'-monophosphate hydrolase deficiency
 related_synonym: Umph1 deficiency;   hemolytic Anaemia due to P5N deficiency;   hemolytic Anaemia due to Umph1 deficiency;   hemolytic Anemia due to P5N deficiency;   hemolytic Anemia due to Umph1 deficiency;   pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to;   pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to;   uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to;   uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
 alt_id: MONDO:0009946
 xref: GARD:16635;   MEDGEN:341470;   MESH:C564859;   MIM:266120;   ORDO:35120;   UMLS:C1849507


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn disorder of purine or pyrimidine metabolism 0
                inborn disorder of pyrimidine metabolism 0
                  hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0
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