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Experimental Factor Ontology
| Preferred Name | orotic aciduria | |
| Synonyms |
hereditary orotic aciduria Umps deficiency orotic aciduria type 1 orotic aciduria without megaloblastic Anemia oroticaciduria 1 Ump synthase deficiency orotic aciduria II (formerly) orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency orotic aciduria without megaloblastic Anaemia orotic aciduria 1 uridine monophosphate synthase deficiency orotate phosphoribosyltransferase and OMP decarboxylase deficiency UMP synthtase deficiency OPRT and ODC deficiency orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency UMPS oroticaciduria orotidylic decarboxylase deficiency uridine monophosphate synthetase deficiency orotic aciduria Hereditary Orotic Aciduria |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009797 |
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| closeMatch | ||
| database_cross_reference |
UMLS:C0220987 DOID:0050833 MEDGEN:472940 NCIT:C98944 MedDRA:10052621 icd11.foundation:449856959 SCTID:47641009 OMIM:258900 Orphanet:30 NANDO:2200590 GARD:5429 NORD:1942
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|
| 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.
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| exactMatch |
http://identifiers.org/snomedct/47641009 http://www.orpha.net/ORDO/Orphanet_30 http://linkedlifedata.com/resource/umls/id/C0220987 http://identifiers.org/medgen/472940 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/449856959 |
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| has_exact_synonym |
oroticaciduria orotidylic decarboxylase deficiency uridine monophosphate synthetase deficiency orotic aciduria Hereditary Orotic Aciduria
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| has_related_synonym |
hereditary orotic aciduria Umps deficiency orotic aciduria type 1 orotic aciduria without megaloblastic Anemia oroticaciduria 1 Ump synthase deficiency orotic aciduria II (formerly) orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency orotic aciduria without megaloblastic Anaemia orotic aciduria 1 uridine monophosphate synthase deficiency orotate phosphoribosyltransferase and OMP decarboxylase deficiency UMP synthtase deficiency OPRT and ODC deficiency orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency UMPS
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| id |
MONDO:0009797
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
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| label |
orotic aciduria
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|
| notation |
MONDO:0009797
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| preferred label |
orotic aciduria
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| prefLabel |
orotic aciduria
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| subClassOf |
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