has material basis in germline mutation in NT5C3A congenital nonspherocytic hemolytic anemia hemolytic anemia due to pyrimidine 5' nucleotidase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/anemia_congenital_nonspherocytic_hemolytic_8 GARD:0016635 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to hemolytic anemia due to UMPH1 deficiency anemia, congenital, nonspherocytic hemolytic, 8 hemolytic anaemia due to P5N deficiency MONDO:0009946 P5N deficiency UMPH1 deficiency hemolytic anaemia due to UMPH1 deficiency pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to OMIM:266120 pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to 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. UMLS:C1849507 Orphanet:35120 MEDGEN:341470 hemolytic anemia due to P5N deficiency uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to DOID:0051007 uridine 5'-monophosphate hydrolase deficiency MESH:C564859 anemia, hemolytic, due to UMPH1 deficiency inborn disorder of pyrimidine metabolism