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Ritscher–Schinzel syndrome

developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.
MedicalCondition rare_disease Q2155008
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Ritscher–Schinzel syndrome

Summary

Ritscher–Schinzel syndrome is a rare disease[1]. It draws 13 Wikipedia views per month (rare_disease category, ranking #225 of 627).[2]

Key Facts

  • Ritscher–Schinzel syndrome's instance of is recorded as rare disease[3].
  • Ritscher–Schinzel syndrome's instance of is recorded as medical triad[4].
  • Ritscher–Schinzel syndrome's instance of is recorded as class of disease[5].
  • Ritscher–Schinzel syndrome's subclass of is recorded as syndrome[6].
  • Ritscher–Schinzel syndrome's subclass of is recorded as monogenic disease[7].
  • Ritscher–Schinzel syndrome's MeSH descriptor ID is recorded as C535313[8].
  • Ritscher–Schinzel syndrome's OMIM ID is recorded as 220210[9].
  • Ritscher–Schinzel syndrome's has part is recorded as congenital heart disease[10].
  • Ritscher–Schinzel syndrome's has part is recorded as cerebellar hypoplasia[11].
  • Ritscher–Schinzel syndrome's has part is recorded as dysmorphism[12].
  • Ritscher–Schinzel syndrome's KEGG ID is recorded as H01568[13].
  • Ritscher–Schinzel syndrome's GeneReviews ID is recorded as NBK553049[14].
  • Ritscher–Schinzel syndrome's Disease Ontology ID is recorded as DOID:0060565[15].
  • Ritscher–Schinzel syndrome's Orphanet ID is recorded as 7[16].
  • Ritscher–Schinzel syndrome's health specialty is recorded as medical genetics[17].
  • Ritscher–Schinzel syndrome's genetic association is recorded as WASHC5[18].
  • Ritscher–Schinzel syndrome's BabelNet ID is recorded as 00214449n[19].
  • Ritscher–Schinzel syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060565[20].
  • Ritscher–Schinzel syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060565[21].
  • Ritscher–Schinzel syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_7[22].
  • Ritscher–Schinzel syndrome's UMLS CUI is recorded as C0796137[23].
  • Ritscher–Schinzel syndrome's GARD rare disease ID is recorded as 5666[24].
  • Ritscher–Schinzel syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[25].
  • Ritscher–Schinzel syndrome's Microsoft Academic ID is recorded as 2779020067[26].
  • Ritscher–Schinzel syndrome's WikiProjectMed ID is recorded as 3C syndrome[27].

Why It Matters

Ritscher–Schinzel syndrome draws 13 Wikipedia views per month (rare_disease category, ranking #225 of 627).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[28] It is known by 16 alternative names across languages and contexts.[29]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. wikidata.org.
  17. [19] ↑ . BabelNet. wikidata.org.
  18. [20] ↑ . Disease Ontology. Retrieved . wikidata.org.
  19. [21] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [22] ↑ . wikidata.org.
  21. [23] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [24] ↑ . wikidata.org.
  23. [25] ↑ . wikidata.org.
  24. [26] ↑ . wikidata.org.
  25. [27] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] ↑ . Wikidata sitelinks. wikidata.org.
  3. [29] ↑ . Wikidata aliases. 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). Ritscher–Schinzel syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/ritscher-schinzel-syndrome
MLA “Ritscher–Schinzel syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/ritscher-schinzel-syndrome.
BibTeX @misc{4ortxyz_ritscher-schinzel-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Ritscher–Schinzel syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/ritscher-schinzel-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Ritscher–Schinzel syndrome — https://4ort.xyz/entity/ritscher-schinzel-syndrome (retrieved 2026-05-03)

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