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