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isolated microphthalmia 5

Human disease
Class type of: genetic disease, autosomal recessive disease, isolated microphthalmia Q28065641

Facts

8 properties
Instance of
rare disease, class of disease[5]
Subclass of
genetic disease, autosomal recessive disease, isolated microphthalmia
Age of onset
adult onset[9]
Genetic association
MFRP[8]
Has phenotype
Retinal pigment epithelial atrophy, photophobia[11][12]
Health specialty
medical genetics[7]
On focus list of Wikimedia project
WikiProject Medicine[10]
Prevalence
+0.000001[6]
🏷️ Also known as
en isolated microphthalmia 5 en MCOP5 en microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome en posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
🔖 Identifiers · 9
Disease Ontology ID
DOID:0060837
Exact match
purl.obolibrary.org, identifiers.org
ICD-10-CM
Q15.8
Mondo ID
MONDO_0012605
OMIM ID
611040
Orphanet ID
251279
Raras disease ID
D251279
UMLS CUI
C4755272
UniProt disease ID
DI-00754

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Summary

isolated microphthalmia 5 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] ↑ . Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . 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 5. Retrieved October 23, 2026, from https://4ort.xyz/entity/isolated-microphthalmia-5
MLA “isolated microphthalmia 5.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/isolated-microphthalmia-5.
BibTeX @misc{4ortxyz_isolated-microphthalmia-5_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{isolated microphthalmia 5}}, year = {2026}, url = {https://4ort.xyz/entity/isolated-microphthalmia-5}, note = {Accessed: 2026-10-23}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): isolated microphthalmia 5 — https://4ort.xyz/entity/isolated-microphthalmia-5 (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. 19d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Prevalence → 0.000001
    Age of onset → adult onset
    Has phenotype → Retinal pigment epithelial atrophy, photophobia
    Raras disease ID → D251279
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗
    Mondo ID → MONDO_0012605
    UMLS CUI → C4755272
    Disease Ontology ID → DOID:0060837
    UniProt disease ID → DI-00754
    + 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.