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isolated microphthalmia 6

Human disease
Class type of: isolated microphthalmia, genetic disease, autosomal recessive disease Q28065639

Facts

6 properties
Instance of
rare disease, class of disease[5]
Subclass of
isolated microphthalmia, genetic disease, autosomal recessive disease
Age of onset
congenital onset, neonatal onset[21][22]
Genetic association
PRSS56, ABCB6, ALDH1A3, MYRF, VSX2, CRB1, FZD5, GDF3, GDF6, OTX2, RBP4, SHH, SIX6, SOX2, BEST1, PORCN, MFRP, RAX, TMEM98, NHEJ1, TENM3, Receptor for retinol uptake STRA6[7][8][9][10][11][12][13][14][15][16][17][18][19][20]
Health specialty
medical genetics[6]
On focus list of Wikimedia project
WikiProject Medicine[23]
🏷️ Also known as
en isolated microphthalmia 6 en isolated microphthalmia type 6 en MCOP6 en MICROPHTHALMIA, ISOLATED 6 en MICROPHTHALMIA, ISOLATED 6; MCOP6 en Microphthalmia, Isolated type 6 en Microphthalmia, Posterior Nonsyndromic en posterior nonsyndromic microphthalmia
🔖 Identifiers · 9
Disease Ontology ID
DOID:0060835
Exact match
purl.obolibrary.org, identifiers.org
ICD-10-CM
Q11.0
Mondo ID
MONDO_0013293
OMIM ID
613517
Orphanet ID
2542
Raras disease ID
D02542
UMLS CUI
C3150757
UniProt disease ID
DI-02986

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Summary

isolated microphthalmia 6 is a rare disease[1]. It is a type of isolated microphthalmia[2], genetic disease[3], and autosomal recessive disease[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] ↑ . UniProt. Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . 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 6. Retrieved October 23, 2026, from https://4ort.xyz/entity/isolated-microphthalmia-6
MLA “isolated microphthalmia 6.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/isolated-microphthalmia-6.
BibTeX @misc{4ortxyz_isolated-microphthalmia-6_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{isolated microphthalmia 6}}, year = {2026}, url = {https://4ort.xyz/entity/isolated-microphthalmia-6}, note = {Accessed: 2026-10-23}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): isolated microphthalmia 6 — https://4ort.xyz/entity/isolated-microphthalmia-6 (retrieved 2026-10-23)

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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. 18d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Genetic association → PRSS56, ABCB6, ALDH1A3 +1
    Raras disease ID → D02542
    Age of onset → congenital onset, neonatal onset
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo ID → MONDO_0013293
    UMLS CUI → C3150757
    Disease Ontology ID → DOID:0060835
    UniProt disease ID → DI-02986
    + 10 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39943: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.