capillary malformation-arteriovenous malformation syndrome

This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas
MedicalCondition rare_disease Q55783570
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capillary malformation-arteriovenous malformation syndrome

Summary

capillary malformation-arteriovenous malformation syndrome is a rare disease[1].

Key Facts

  • capillary malformation-arteriovenous malformation syndrome's instance of is recorded as rare disease[2].
  • capillary malformation-arteriovenous malformation syndrome's instance of is recorded as class of disease[3].
  • capillary malformation-arteriovenous malformation syndrome's subclass of is recorded as rare genetic capillary malformation[4].
  • capillary malformation-arteriovenous malformation syndrome's MeSH descriptor ID is recorded as C564254[5].
  • capillary malformation-arteriovenous malformation syndrome's OMIM ID is recorded as 608354[6].
  • capillary malformation-arteriovenous malformation syndrome's KEGG ID is recorded as H02043[7].
  • capillary malformation-arteriovenous malformation syndrome's Orphanet ID is recorded as 137667[8].
  • capillary malformation-arteriovenous malformation syndrome's ICD-9-CM is recorded as 747.69[9].
  • capillary malformation-arteriovenous malformation syndrome's genetic association is recorded as RASA1[10].
  • capillary malformation-arteriovenous malformation syndrome's genetic association is recorded as EPHB4[11].
  • capillary malformation-arteriovenous malformation syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_137667[12].
  • capillary malformation-arteriovenous malformation syndrome's UMLS CUI is recorded as C1842180[13].
  • capillary malformation-arteriovenous malformation syndrome's UMLS CUI is recorded as C2675370[14].
  • capillary malformation-arteriovenous malformation syndrome's ICD-10-CM is recorded as Q27.3[15].
  • capillary malformation-arteriovenous malformation syndrome's GARD rare disease ID is recorded as 11904[16].
  • capillary malformation-arteriovenous malformation syndrome's Mondo ID is recorded as MONDO_0012016[17].
  • capillary malformation-arteriovenous malformation syndrome's Genetics Home Reference Conditions ID is recorded as capillary-malformation-arteriovenous-malformation-syndrome[18].

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] . 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] . Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.

Class ancestry

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

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BibTeX @misc{4ortxyz_capillary-malformation-arteriovenous-malformation-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{capillary malformation-arteriovenous malformation syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/capillary-malformation-arteriovenous-malformation-syndrome}, note = {Accessed: 2026-05-03}}
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