cardiofaciocutaneous syndrome

Human disease
MedicalCondition designated_intractable_rare_disease Q1097490
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cardiofaciocutaneous syndrome

Summary

cardiofaciocutaneous syndrome is a designated intractable/rare disease[1]. It draws 42 Wikipedia views per month (designated_intractable_rare_disease category, ranking #140 of 201).[2]

Key Facts

  • cardiofaciocutaneous syndrome's image is recorded as Cardiofaciocutaneous syndrome patient frontal view.png[3].
  • cardiofaciocutaneous syndrome's instance of is recorded as designated intractable/rare disease[4].
  • cardiofaciocutaneous syndrome's instance of is recorded as rare disease[5].
  • cardiofaciocutaneous syndrome's instance of is recorded as class of disease[6].
  • cardiofaciocutaneous syndrome's subclass of is recorded as syndrome[7].
  • cardiofaciocutaneous syndrome's subclass of is recorded as monogenic disease[8].
  • cardiofaciocutaneous syndrome's subclass of is recorded as neuro-cardio-facial-cutaneous syndromes[9].
  • cardiofaciocutaneous syndrome's subclass of is recorded as RASopathy[10].
  • cardiofaciocutaneous syndrome's Commons category is recorded as Cardiofaciocutaneous syndrome[11].
  • cardiofaciocutaneous syndrome's OMIM ID is recorded as 615280[12].
  • cardiofaciocutaneous syndrome's OMIM ID is recorded as 115150[13].
  • cardiofaciocutaneous syndrome's OMIM ID is recorded as 615279[14].
  • cardiofaciocutaneous syndrome's OMIM ID is recorded as 615278[15].
  • cardiofaciocutaneous syndrome's DiseasesDB is recorded as 30111[16].
  • cardiofaciocutaneous syndrome's Freebase ID is recorded as /m/02pjgf[17].
  • cardiofaciocutaneous syndrome's KEGG ID is recorded as H01745[18].
  • cardiofaciocutaneous syndrome's GeneReviews ID is recorded as NBK1186[19].
  • cardiofaciocutaneous syndrome's Disease Ontology ID is recorded as DOID:0060233[20].
  • cardiofaciocutaneous syndrome's symptoms and signs is recorded as heart failure[21].
  • cardiofaciocutaneous syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4095[22].
  • cardiofaciocutaneous syndrome's Orphanet ID is recorded as 1340[23].
  • cardiofaciocutaneous syndrome's health specialty is recorded as medical genetics[24].
  • cardiofaciocutaneous syndrome's genetic association is recorded as MAP2K2[25].
  • cardiofaciocutaneous syndrome's genetic association is recorded as MAP2K1[26].
  • cardiofaciocutaneous syndrome's genetic association is recorded as KRAS[27].

Why It Matters

cardiofaciocutaneous syndrome draws 42 Wikipedia views per month (designated_intractable_rare_disease category, ranking #140 of 201).[2] It has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[28] It is known by 15 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] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . Disease Ontology. Retrieved . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . Freebase Data Dumps. wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Disease Ontology. Retrieved . wikidata.org.
  20. [22] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  21. [23] . Disease Ontology. Retrieved . wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . Molecular and functional analysis of a novel MEK2 mutation in cardio‐facio‐cutaneous syndrome: Transmission through four generations. wikidata.org.
  24. [26] . Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. wikidata.org.
  25. [27] . Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 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). cardiofaciocutaneous syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cardiofaciocutaneous-syndrome
MLA “cardiofaciocutaneous syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cardiofaciocutaneous-syndrome.
BibTeX @misc{4ortxyz_cardiofaciocutaneous-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cardiofaciocutaneous syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cardiofaciocutaneous-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cardiofaciocutaneous syndrome — https://4ort.xyz/entity/cardiofaciocutaneous-syndrome (retrieved 2026-05-03)

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