microcephaly lymphoedema chorioretinal dysplasia

syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability
MedicalCondition developmental_defect_during_embryogenesis Q6839330
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Summary

microcephaly lymphoedema chorioretinal dysplasia is a developmental defect during embryogenesis[1]. It draws 255 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]

Key Facts

  • microcephaly lymphoedema chorioretinal dysplasia's instance of is recorded as developmental defect during embryogenesis[3].
  • microcephaly lymphoedema chorioretinal dysplasia's instance of is recorded as rare disease[4].
  • microcephaly lymphoedema chorioretinal dysplasia's instance of is recorded as class of disease[5].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of syndrome[6].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of microcephaly[7].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of Primary lymphedema[8].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of primary lymphedema with associated anomalies[9].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of genetic vascular anomaly[10].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of syndromic lymphedema[11].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of rare genetic immune disease[12].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of fundus dystrophy[13].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of syndrome with microcephaly as major feature[14].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of microcephaly and chorioretinopathy[15].
  • microcephaly lymphoedema chorioretinal dysplasia is a type of autosomal dominant disease[16].
  • microcephaly lymphoedema chorioretinal dysplasia's genetic association is recorded as KIF11[17].
  • microcephaly lymphoedema chorioretinal dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060349[18].
  • microcephaly lymphoedema chorioretinal dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0060349[19].
  • microcephaly lymphoedema chorioretinal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2526[20].
  • microcephaly lymphoedema chorioretinal dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].

Why It Matters

microcephaly lymphoedema chorioretinal dysplasia draws 255 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2] It is known by 17 alternative names across languages and contexts.[22]

References

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

Direct Wikidata claims

  1. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [17] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  16. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [19] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [20] ↑ . wikidata.org.
  19. [21] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [22] ↑ . 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). microcephaly lymphoedema chorioretinal dysplasia. Retrieved October 20, 2026, from https://4ort.xyz/entity/microcephaly-lymphoedema-chorioretinal-dysplasia
MLA “microcephaly lymphoedema chorioretinal dysplasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 20 Oct. 2026, https://4ort.xyz/entity/microcephaly-lymphoedema-chorioretinal-dysplasia.
BibTeX @misc{4ortxyz_microcephaly-lymphoedema-chorioretinal-dysplasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{microcephaly lymphoedema chorioretinal dysplasia}}, year = {2026}, url = {https://4ort.xyz/entity/microcephaly-lymphoedema-chorioretinal-dysplasia}, note = {Accessed: 2026-10-20}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): microcephaly lymphoedema chorioretinal dysplasia — https://4ort.xyz/entity/microcephaly-lymphoedema-chorioretinal-dysplasia (retrieved 2026-10-20)

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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 · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0007918
    Orphanet id → 2526
    Imported from → —
    Mesh descriptor id → C537711
    + 15 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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