microcephalic osteodysplastic dysplasia, Saul-Wilson type

congenital abnormality
MedicalCondition developmental_defect_during_embryogenesis Q55788643
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Summary

microcephalic osteodysplastic dysplasia, Saul-Wilson type is a developmental defect during embryogenesis[1]. It is known by 3 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: microcephalic primordial dwarfism[4], autosomal dominant disease[5], bone development disease[6]
  • Genetic association: COG4[7]
  • Exact match: http://www.orpha.net/ORDO/Orphanet_85172[8], http://purl.obolibrary.org/obo/DOID_0111673[9], http://identifiers.org/doid/DOID:0111673[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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

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

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APA 4ort.xyz Knowledge Graph. (2026). microcephalic osteodysplastic dysplasia, Saul-Wilson type. Retrieved May 3, 2026, from https://4ort.xyz/entity/microcephalic-osteodysplastic-dysplasia-saul-wilson-type
MLA “microcephalic osteodysplastic dysplasia, Saul-Wilson type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/microcephalic-osteodysplastic-dysplasia-saul-wilson-type.
BibTeX @misc{4ortxyz_microcephalic-osteodysplastic-dysplasia-saul-wilson-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{microcephalic osteodysplastic dysplasia, Saul-Wilson type}}, year = {2026}, url = {https://4ort.xyz/entity/microcephalic-osteodysplastic-dysplasia-saul-wilson-type}, 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. 16w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0019407
    Genetic association → COG4
    Orphanet id → 85172
    Instance of → developmental defect during embryogenesis, class of disease
    + 9 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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