loading...| Preferred Name |
OROTIC ACIDURIA |
| Synonyms |
OPRT AND ODC DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/258900 |
| altLabel |
OPRT AND ODC DEFICIENCY OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY UMPS DEFICIENCY OAWA UMP SYNTHASE DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA OROTIC ACIDURIA I |
| cui |
C0268130 C3278622 |
| Gene Locus |
3q13 |
| Gene Symbol |
OPRT UMPS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU042112 http://purl.bioontology.org/ontology/OMIM/MTHU008399 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036916 http://purl.bioontology.org/ontology/OMIM/MTHU037816 http://purl.bioontology.org/ontology/OMIM/MTHU026299 http://purl.bioontology.org/ontology/OMIM/MTHU032451 http://purl.bioontology.org/ontology/OMIM/MTHU067767 http://purl.bioontology.org/ontology/OMIM/MTHU037815 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU007557 http://purl.bioontology.org/ontology/OMIM/MTHU000185 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
258920 |
| notation |
258900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
OROTIC ACIDURIA |
| Scope Statement |
Caused by mutation in the uridine monophosphate synthetase gene (UMPS, 613891.0001) [MOLECULAR BASIS] |
| tui |
T047 |