has material basis in germline mutation in UMPS orotic aciduria https://www.malacards.org/card/orotic_aciduria SCTID:47641009 MedDRA:10052621 OMIM:258900 orotic aciduria II (formerly) UMPS NANDO:2200590 orotic aciduria without megaloblastic Anaemia Hereditary Orotic Aciduria MEDGEN:472940 MONDO:0009797 icd11.foundation:449856959 DOID:0050833 GARD:0005429 orotic aciduria type 1 orotidylic decarboxylase deficiency UMP synthtase deficiency orotate phosphoribosyltransferase and OMP decarboxylase deficiency uridine monophosphate synthetase deficiency oroticaciduria Orphanet:30 An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. orotic aciduria NORD:1942 oroticaciduria 1 UMLS:C0220987 NCIT:C98944 inborn disorder of pyrimidine metabolism vitamin B12- and folate-independent constitutional megaloblastic anemia