microcephalic osteodysplastic primordial dwarfism type II

Human disease
MedicalCondition malformation_syndrome Q6839323
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Summary

microcephalic osteodysplastic primordial dwarfism type II is a malformation syndrome[1]. It draws 206 Wikipedia views per month (malformation syndrome category, ranking #5 of 8).[2]

Key Facts

  • Instance of: developmental defect during embryogenesis[3], rare disease[4], class of disease[5]
  • Subclass of: osteochondrodysplasia[6], primordial dwarfism[7], Moyamoya syndrome[8], syndromic obesity[9], microcephalic primordial dwarfism[10], genetic disease[11], autosomal recessive disease[12], microcephalic osteodysplastic primordial dwarfism[13]
  • Health specialty: medical genetics[14]
  • Genetic association: PCNT[15]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0060609[16], http://identifiers.org/doid/DOID:0060609[17], http://www.orpha.net/ORDO/Orphanet_2637[18]
  • On focus list of Wikimedia project: WikiProject Medicine[19]

Why It Matters

microcephalic osteodysplastic primordial dwarfism type II is known by 16 alternative names across languages and contexts.[20]

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [17] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  16. [18] ↑ . wikidata.org.
  17. [19] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [20] ↑ . 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). microcephalic osteodysplastic primordial dwarfism type II. Retrieved October 14, 2026, from https://4ort.xyz/entity/microcephalic-osteodysplastic-primordial-dwarfism-type-ii
MLA “microcephalic osteodysplastic primordial dwarfism type II.” 4ort.xyz Knowledge Graph, 4ort.xyz, 14 Oct. 2026, https://4ort.xyz/entity/microcephalic-osteodysplastic-primordial-dwarfism-type-ii.
BibTeX @misc{4ortxyz_microcephalic-osteodysplastic-primordial-dwarfism-type-ii_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{microcephalic osteodysplastic primordial dwarfism type II}}, year = {2026}, url = {https://4ort.xyz/entity/microcephalic-osteodysplastic-primordial-dwarfism-type-ii}, note = {Accessed: 2026-10-14}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): microcephalic osteodysplastic primordial dwarfism type II — https://4ort.xyz/entity/microcephalic-osteodysplastic-primordial-dwarfism-type-ii (retrieved 2026-10-14)

Canonical URL: https://4ort.xyz/entity/microcephalic-osteodysplastic-primordial-dwarfism-type-ii · Last refreshed:

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. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of → osteochondrodysplasia, primordial dwarfism, Moyamoya syndrome +5
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39918|batch #39918]]: rm redundant disease superclass"
  2. 15w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0008872
    Orphanet id → 2637
    Imported from → —
    Mesh descriptor id → C565898
    + 17 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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