Beta-ureidopropionase deficiency

Human disease
MedicalCondition rare_disease Q24960452
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Beta-ureidopropionase deficiency

Summary

Beta-ureidopropionase deficiency is a rare disease[1].

Key Facts

  • Beta-ureidopropionase deficiency's instance of is recorded as rare disease[2].
  • Beta-ureidopropionase deficiency's instance of is recorded as class of disease[3].
  • Beta-ureidopropionase deficiency's subclass of is recorded as metabolic neurotransmission anomaly with epilepsy[4].
  • Beta-ureidopropionase deficiency's subclass of is recorded as rare genetic epilepsy[5].
  • Beta-ureidopropionase deficiency's subclass of is recorded as neurometabolic disease[6].
  • Beta-ureidopropionase deficiency's subclass of is recorded as pyrimidine metabolic disorder[7].
  • Beta-ureidopropionase deficiency's MeSH descriptor ID is recorded as C563210[8].
  • Beta-ureidopropionase deficiency's OMIM ID is recorded as 613161[9].
  • Beta-ureidopropionase deficiency's KEGG ID is recorded as H00200[10].
  • Beta-ureidopropionase deficiency's Orphanet ID is recorded as 65287[11].
  • Beta-ureidopropionase deficiency's ICD-9-CM is recorded as 277.6[12].
  • Beta-ureidopropionase deficiency's genetic association is recorded as UPB1[13].
  • Beta-ureidopropionase deficiency's Google Knowledge Graph ID is recorded as /g/11clglc8jh[14].
  • Beta-ureidopropionase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_65287[15].
  • Beta-ureidopropionase deficiency's UMLS CUI is recorded as C1291512[16].
  • Beta-ureidopropionase deficiency's ICD-10-CM is recorded as E79.8[17].
  • Beta-ureidopropionase deficiency's Mondo ID is recorded as MONDO_0013164[18].
  • Beta-ureidopropionase deficiency's UniProt disease ID is recorded as DI-01276[19].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Beta-ureidopropionase deficiency. Retrieved October 5, 2026, from https://4ort.xyz/entity/beta-ureidopropionase-deficiency
MLA “Beta-ureidopropionase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Oct. 2026, https://4ort.xyz/entity/beta-ureidopropionase-deficiency.
BibTeX @misc{4ortxyz_beta-ureidopropionase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Beta-ureidopropionase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/beta-ureidopropionase-deficiency}, note = {Accessed: 2026-10-05}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Beta-ureidopropionase deficiency — https://4ort.xyz/entity/beta-ureidopropionase-deficiency (retrieved 2026-10-05)

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