branchiootic syndrome

syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome
MedicalCondition head_and_neck_disease Q18966109
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branchiootic syndrome

Summary

branchiootic syndrome is a head and neck disease[1].

Key Facts

  • branchiootic syndrome's instance of is recorded as head and neck disease[2].
  • branchiootic syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • branchiootic syndrome's instance of is recorded as rare disease[4].
  • branchiootic syndrome's instance of is recorded as class of disease[5].
  • branchiootic syndrome is a type of syndrome[6].
  • branchiootic syndrome's health specialty is recorded as medical genetics[7].
  • branchiootic syndrome's genetic association is recorded as SIX1[8].
  • branchiootic syndrome's genetic association is recorded as EYA1[9].
  • branchiootic syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060232[10].
  • branchiootic syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060232[11].
  • branchiootic syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_52429[12].
  • branchiootic syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].

References

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

Direct Wikidata claims

  1. [2] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . wikidata.org.
  7. [8] . SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . 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). branchiootic syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/branchiootic-syndrome
MLA “branchiootic syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/branchiootic-syndrome.
BibTeX @misc{4ortxyz_branchiootic-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{branchiootic syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/branchiootic-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): branchiootic syndrome — https://4ort.xyz/entity/branchiootic-syndrome (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 7w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0007360
    Genetic association SIX1, EYA1
    Gard rare disease id 10148
    Orphanet id 52429
    + 12 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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