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Autosomal recessive primary microcephaly

human disease
MedicalCondition hereditary_disorder Q22965392
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Autosomal recessive primary microcephaly

Summary

Autosomal recessive primary microcephaly is a hereditary disorder[1]. It is known by 6 alternative names across languages and contexts.[2]

Key Facts

  • Autosomal recessive primary microcephaly's instance of is recorded as hereditary disorder[3].
  • Autosomal recessive primary microcephaly's instance of is recorded as developmental defect during embryogenesis[4].
  • Autosomal recessive primary microcephaly's instance of is recorded as rare disease[5].
  • Autosomal recessive primary microcephaly's instance of is recorded as disease[6].
  • Autosomal recessive primary microcephaly is a type of microcephaly[7].
  • Autosomal recessive primary microcephaly's genetic association is recorded as CEP135[8].
  • Autosomal recessive primary microcephaly's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2512[9].

Why It Matters

Autosomal recessive primary microcephaly is known by 6 alternative names across languages and contexts.[2]

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] ↑ . wikidata.org.
  4. [6] ↑ . A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . Q905695. Retrieved . wikidata.org.
  7. [9] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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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). Autosomal recessive primary microcephaly. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-primary-microcephaly
MLA “Autosomal recessive primary microcephaly.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-primary-microcephaly.
BibTeX @misc{4ortxyz_autosomal-recessive-primary-microcephaly_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Autosomal recessive primary microcephaly}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-primary-microcephaly}, note = {Accessed: 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. 11w ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗
    Mondo id → MONDO_0013849
    Imported from → —
    Umls cui → C3553414
    Uniprot disease id → DI-03470
    + 7 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39873|batch #39873]]: P31 = "type of disease""
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