porencephaly-microcephaly-bilateral congenital cataract syndrome

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55784033
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porencephaly-microcephaly-bilateral congenital cataract syndrome

Summary

porencephaly-microcephaly-bilateral congenital cataract syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • porencephaly-microcephaly-bilateral congenital cataract syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome's instance of is recorded as rare disease[3].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome's instance of is recorded as class of disease[4].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome is a type of other syndrome with a central nervous system malformation as major feature[5].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome is a type of rare genetic developmental defect during embryogenesis[6].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome is a type of genetic nervous system disorder[7].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome's genetic association is recorded as JAM3[8].
  • porencephaly-microcephaly-bilateral congenital cataract syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_306547[9].

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] . wikidata.org.
  3. [4] . 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] . wikidata.org.

Class ancestry

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

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APA 4ort.xyz Knowledge Graph. (2026). porencephaly-microcephaly-bilateral congenital cataract syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/porencephaly-microcephaly-bilateral-congenital-cataract-syndrome
MLA “porencephaly-microcephaly-bilateral congenital cataract syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/porencephaly-microcephaly-bilateral-congenital-cataract-syndrome.
BibTeX @misc{4ortxyz_porencephaly-microcephaly-bilateral-congenital-cataract-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{porencephaly-microcephaly-bilateral congenital cataract syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/porencephaly-microcephaly-bilateral-congenital-cataract-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): porencephaly-microcephaly-bilateral congenital cataract syndrome — https://4ort.xyz/entity/porencephaly-microcephaly-bilateral-congenital-cataract-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. 6d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0013394
    Genetic association JAM3
    Kegg id H01301
    Orphanet id 306547
    + 8 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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