microphthalmia with limb anomalies

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly
MedicalCondition developmental_defect_during_embryogenesis Q32136526
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microphthalmia with limb anomalies

Summary

microphthalmia with limb anomalies is a developmental defect during embryogenesis[1]. It is known by 11 alternative names across languages and contexts.[2]

Key Facts

  • microphthalmia with limb anomalies is credited with the discovery of Petrus Johannes Waardenburg[3].
  • microphthalmia with limb anomalies's instance of is recorded as developmental defect during embryogenesis[4].
  • microphthalmia with limb anomalies's instance of is recorded as rare disease[5].
  • microphthalmia with limb anomalies's instance of is recorded as class of disease[6].
  • microphthalmia with limb anomalies is a type of autosomal recessive disease[7].
  • microphthalmia with limb anomalies is a type of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[8].
  • microphthalmia with limb anomalies is a type of syndromic developmental defect of the eye[9].
  • microphthalmia with limb anomalies is a type of syndrome[10].
  • microphthalmia with limb anomalies is a type of syndromic microphthalmia[11].
  • microphthalmia with limb anomalies's ICD-9-CM is recorded as 755.8[12].
  • microphthalmia with limb anomalies's health specialty is recorded as medical genetics[13].
  • microphthalmia with limb anomalies's genetic association is recorded as SMOC1[14].
  • microphthalmia with limb anomalies's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060861[15].
  • microphthalmia with limb anomalies's exact match is recorded as http://identifiers.org/doid/DOID:0060861[16].
  • microphthalmia with limb anomalies's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].

Body

Works and Contributions

microphthalmia with limb anomalies is credited with the discovery of Petrus Johannes Waardenburg[3].

Why It Matters

microphthalmia with limb anomalies is known by 11 alternative names across languages and contexts.[2]

References

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

Direct Wikidata claims

  1. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [5] ↑ . wikidata.org.
  3. [6] ↑ . wikidata.org.
  4. [3] ↑ . pubmed.ncbi.nlm.nih.gov. pubmed.ncbi.nlm.nih.gov. Provenance: wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [16] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [17] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . 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). microphthalmia with limb anomalies. Retrieved September 27, 2026, from https://4ort.xyz/entity/microphthalmia-with-limb-anomalies
MLA “microphthalmia with limb anomalies.” 4ort.xyz Knowledge Graph, 4ort.xyz, 27 Sep. 2026, https://4ort.xyz/entity/microphthalmia-with-limb-anomalies.
BibTeX @misc{4ortxyz_microphthalmia-with-limb-anomalies_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{microphthalmia with limb anomalies}}, year = {2026}, url = {https://4ort.xyz/entity/microphthalmia-with-limb-anomalies}, note = {Accessed: 2026-09-27}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): microphthalmia with limb anomalies — https://4ort.xyz/entity/microphthalmia-with-limb-anomalies (retrieved 2026-09-27)

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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. 12w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0008800
    Orphanet id → 1106
    Imported from → —
    Mesh descriptor id → C537769
    + 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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