JSON

orotic aciduria

^ http://purl.obolibrary.org/obo/MONDO_0009797

Term info

database cross reference
  • SCTID:47641009 (MONDO:equivalentTo)
  • DOID:0050833 (MONDO:equivalentTo)
  • NCIT:C98944 (MONDO:equivalentTo)
  • MedDRA:10052621 (Orphanet:30/e)
  • OMIM:258900 (Orphanet:30/e)
  • Orphanet:30 (OMIM:258900)
  • GARD:0005429 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
UMPS [ GARD:0005429 ]

closeMatch

http://identifiers.org/meddra/10052621

definition

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050833, http://purl.obolibrary.org/obo/Orphanet_30, http://identifiers.org/snomedct/47641009, http://purl.obolibrary.org/obo/NCIT_C98944, https://omim.org/entry/258900

has exact synonym

orotidylic decarboxylase deficiency, oroticaciduria, orotic aciduria, uridine monophosphate synthetase deficiency

has related synonym

orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency, orotic aciduria type 1, orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, UMP synthtase deficiency, Umps deficiency, orotic aciduria II (formerly), orotate phosphoribosyltransferase and OMP decarboxylase deficiency, uridine monophosphate synthase deficiency, hereditary orotic aciduria, orotic aciduria without megaloblastic Anemia, orotic aciduria 1, oroticaciduria 1, OPRT and ODC deficiency, UMPS, Ump synthase deficiency

id

MONDO:0009797