This is just here as a test because I lose it
Term information
database
cross reference
- Orphanet:30 (OMIM:258900)
- DOID:0050833 (MONDO:equivalentTo)
- OMIM:258900 (Orphanet:30/e)
- MedDRA:10052621 (Orphanet:30/e)
- GARD:0005429 (MONDO:equivalentTo)
- SCTID:47641009 (MONDO:equivalentTo)
- NCIT:C98944 (MONDO:equivalentTo)
Subsets
ordo_disease
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://www.orpha.net/ORDO/Orphanet_30
- http://purl.obolibrary.org/obo/NCIT_C98944
- http://identifiers.org/snomedct/47641009
- https://omim.org/entry/258900
- http://purl.obolibrary.org/obo/DOID_0050833
has exact synonym
- orotidylic decarboxylase deficiency
- orotic aciduria
- oroticaciduria
- uridine monophosphate synthetase deficiency
has related synonym
- uridine monophosphate synthase deficiency
- UMPS
- orotic aciduria II (formerly)
- OPRT and ODC deficiency
- Ump synthase deficiency
- UMP synthtase deficiency
- orotic aciduria type 1
- hereditary orotic aciduria
- orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
- oroticaciduria 1
- orotic aciduria without megaloblastic Anemia
- Umps deficiency
- orotate phosphoribosyltransferase and OMP decarboxylase deficiency
- orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency
- orotic aciduria 1
id
- MONDO:0009797