homocarnosinosis

gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has material basis in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine
MedicalCondition class_of_disease Q18553707
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homocarnosinosis

Summary

homocarnosinosis is a class of disease[1].

Key Facts

  • homocarnosinosis's instance of is recorded as class of disease[2].
  • homocarnosinosis's subclass of is recorded as gamma-amino butyric acid metabolism disorder[3].
  • homocarnosinosis's subclass of is recorded as inborn disorder of peptide metabolism[4].
  • homocarnosinosis's subclass of is recorded as encephalopathy[5].
  • homocarnosinosis's MeSH descriptor ID is recorded as C535328[6].
  • homocarnosinosis's OMIM ID is recorded as 236130[7].
  • homocarnosinosis's Disease Ontology ID is recorded as DOID:0060177[8].
  • homocarnosinosis's Orphanet ID is recorded as 2168[9].
  • homocarnosinosis's ICD-9-CM is recorded as 277.89[10].
  • homocarnosinosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060177[11].
  • homocarnosinosis's exact match is recorded as http://identifiers.org/doid/DOID:0060177[12].
  • homocarnosinosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2168[13].
  • homocarnosinosis's UMLS CUI is recorded as C3495554[14].
  • homocarnosinosis's UMLS CUI is recorded as C0268632[15].
  • homocarnosinosis's UMLS CUI is recorded as C5700357[16].
  • homocarnosinosis's ICD-10-CM is recorded as E72.8[17].
  • homocarnosinosis's GARD rare disease ID is recorded as 2730[18].
  • homocarnosinosis's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
  • homocarnosinosis's Mondo ID is recorded as MONDO_0009351[20].
  • homocarnosinosis's ICD-11 ID is recorded as 5C50.F2[21].
  • homocarnosinosis's ICD-11 ID is recorded as 166229372[22].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . Disease Ontology. Retrieved . wikidata.org.
  3. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Disease Ontology. 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] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] . UMLS 2023. Retrieved . wikidata.org.
  16. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] . Disease Ontology. Retrieved . wikidata.org.
  18. [19] . wikidata.org.
  19. [20] . wikidata.org.
  20. [21] . wikidata.org.
  21. [22] . 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). homocarnosinosis. Retrieved May 3, 2026, from https://4ort.xyz/entity/homocarnosinosis
MLA “homocarnosinosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/homocarnosinosis.
BibTeX @misc{4ortxyz_homocarnosinosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{homocarnosinosis}}, year = {2026}, url = {https://4ort.xyz/entity/homocarnosinosis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): homocarnosinosis — https://4ort.xyz/entity/homocarnosinosis (retrieved 2026-05-03)

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