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urofacial syndrome

autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding
MedicalCondition rare_disease Q4352832
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urofacial syndrome

Summary

urofacial syndrome is a rare disease[1].

Key Facts

  • urofacial syndrome's instance of is recorded as rare disease[2].
  • Bernardo Ochoa is named after urofacial syndrome[3].
  • urofacial syndrome is a type of autosomal recessive disease[4].
  • urofacial syndrome is a type of syndrome[5].
  • urofacial syndrome's symptoms and signs is recorded as neurogenic bladder[6].
  • urofacial syndrome's genetic association is recorded as HPSE2[7].
  • urofacial syndrome's genetic association is recorded as LRIG2[8].
  • urofacial syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050816[9].
  • urofacial syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050816[10].
  • urofacial syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2704[11].
  • urofacial syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . LRIG2 mutations cause urofacial syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . 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). urofacial syndrome. Retrieved October 2, 2026, from https://4ort.xyz/entity/urofacial-syndrome
MLA “urofacial syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 2 Oct. 2026, https://4ort.xyz/entity/urofacial-syndrome.
BibTeX @misc{4ortxyz_urofacial-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{urofacial syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/urofacial-syndrome}, note = {Accessed: 2026-10-02}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): urofacial syndrome — https://4ort.xyz/entity/urofacial-syndrome (retrieved 2026-10-02)

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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. 13w ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗
    On focus list of wikimedia project → WikiProject Medicine
    Freebase id → /m/0d5qgr
    Gard rare disease id → 104
    Imported from → —
    + 20 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39866|batch #39866]]: + P31 = "type of disease""
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