Knobloch syndrome

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele
MedicalCondition developmental_defect_during_embryogenesis Q17332514
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Knobloch syndrome

Summary

Knobloch syndrome is a developmental defect during embryogenesis[1]. It draws 3 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]

Key Facts

  • Knobloch syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Knobloch syndrome's instance of is recorded as rare disease[4].
  • Knobloch syndrome's instance of is recorded as class of disease[5].
  • Knobloch syndrome's subclass of is recorded as vitreoretinal degeneration[6].
  • Knobloch syndrome's subclass of is recorded as syndromic developmental defect of the eye[7].
  • Knobloch syndrome's MeSH descriptor ID is recorded as C537209[8].
  • Knobloch syndrome's OMIM ID is recorded as 267750[9].
  • Knobloch syndrome's Freebase ID is recorded as /m/0113jwxx[10].
  • Knobloch syndrome's KEGG ID is recorded as H02074[11].
  • Knobloch syndrome's symptoms and signs is recorded as nystagmus[12].
  • Knobloch syndrome's Orphanet ID is recorded as 1571[13].
  • Knobloch syndrome's ICD-9-CM is recorded as 759.89[14].
  • Knobloch syndrome's NCI Thesaurus ID is recorded as C201594[15].
  • Knobloch syndrome's genetic association is recorded as COL18A1[16].
  • Knobloch syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1571[17].
  • Knobloch syndrome's UMLS CUI is recorded as C1849409[18].
  • Knobloch syndrome's ICD-10-CM is recorded as Q15.8[19].
  • Knobloch syndrome's GARD rare disease ID is recorded as 380[20].
  • Knobloch syndrome's Mondo ID is recorded as MONDO_0009977[21].
  • Knobloch syndrome's Microsoft Academic ID is recorded as 2781414962[22].
  • Knobloch syndrome's Genetics Home Reference Conditions ID is recorded as knobloch-syndrome[23].
  • Knobloch syndrome's WikiProjectMed ID is recorded as Knobloch syndrome[24].
  • Knobloch syndrome's UniProt disease ID is recorded as DI-01868[25].

Why It Matters

Knobloch syndrome draws 3 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . gene2phenotype. Retrieved . ebi.ac.uk. Provenance: wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Q905695. Retrieved . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.

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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). Knobloch syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/knobloch-syndrome
MLA “Knobloch syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/knobloch-syndrome.
BibTeX @misc{4ortxyz_knobloch-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Knobloch syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/knobloch-syndrome}, note = {Accessed: 2026-05-03}}
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