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isolated microphthalmia 3

microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21
Class type of: genetic disease, autosomal recessive disease, isolated microphthalmia Q28065646

Facts

5 properties
Instance of
rare disease, class of disease[5]
Subclass of
genetic disease, autosomal recessive disease, isolated microphthalmia
Genetic association
RAX, VSX2, GDF6, PRSS56[7][8][9][10]
Health specialty
medical genetics[6]
On focus list of Wikimedia project
WikiProject Medicine[11]
🏷️ Also known as
en isolated microphthalmia 3 en MCOP3
🔖 Identifiers · 8
Disease Ontology ID
DOID:0060842
Exact match
purl.obolibrary.org, identifiers.org
ICD-10-CM
Q11.0
Mondo ID
MONDO_0012604
OMIM ID
611038
Orphanet ID
2542
UMLS CUI
C5679828
UniProt disease ID
DI-00756

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Summary

isolated microphthalmia 3 is a rare disease[1]. It is a type of genetic disease[2], autosomal recessive disease[3], and isolated microphthalmia[4].

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). isolated microphthalmia 3. Retrieved October 30, 2026, from https://4ort.xyz/entity/isolated-microphthalmia-3
MLA “isolated microphthalmia 3.” 4ort.xyz Knowledge Graph, 4ort.xyz, 30 Oct. 2026, https://4ort.xyz/entity/isolated-microphthalmia-3.
BibTeX @misc{4ortxyz_isolated-microphthalmia-3_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{isolated microphthalmia 3}}, year = {2026}, url = {https://4ort.xyz/entity/isolated-microphthalmia-3}, note = {Accessed: 2026-10-30}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): isolated microphthalmia 3 — https://4ort.xyz/entity/isolated-microphthalmia-3 (retrieved 2026-10-30)

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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. 18w ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗
    Mondo ID → MONDO_0012604
    UMLS CUI → C5679828
    Disease Ontology ID → DOID:0060842
    UniProt disease ID → DI-00756
    + 10 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39915: rm redundant disease superclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.