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helicoid peripapillary chorioretinal degeneration

eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has material basis in heterozygous muation in TEAD1 on 11p15.3
MedicalCondition rare_disease Q55780357
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Summary

helicoid peripapillary chorioretinal degeneration is a rare disease[1]. It is known by 10 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: fundus dystrophy[4], eye disease[5]
  • Genetic association: TEAD1[6]
  • Exact match: http://www.orpha.net/ORDO/Orphanet_86813[7], http://purl.obolibrary.org/obo/DOID_0111228[8], http://identifiers.org/doid/DOID:0111228[9]
  • On focus list of Wikimedia project: WikiProject Medicine[10]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  8. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . 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). helicoid peripapillary chorioretinal degeneration. Retrieved May 3, 2026, from https://4ort.xyz/entity/helicoid-peripapillary-chorioretinal-degeneration
MLA “helicoid peripapillary chorioretinal degeneration.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/helicoid-peripapillary-chorioretinal-degeneration.
BibTeX @misc{4ortxyz_helicoid-peripapillary-chorioretinal-degeneration_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{helicoid peripapillary chorioretinal degeneration}}, year = {2026}, url = {https://4ort.xyz/entity/helicoid-peripapillary-chorioretinal-degeneration}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): helicoid peripapillary chorioretinal degeneration — https://4ort.xyz/entity/helicoid-peripapillary-chorioretinal-degeneration (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. 15w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0007176
    Imported from → —
    Umls cui → C1862382
    Disease ontology id → DOID:0111228
    + 13 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
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