optic atrophy-intellectual disability syndrome

human disease
MedicalCondition rare_disease Q55784781
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Summary

optic atrophy-intellectual disability syndrome is a rare disease[1]. It draws 9 Wikipedia views per month (rare_disease category, ranking #232 of 627).[2]

Key Facts

  • optic atrophy-intellectual disability syndrome's instance of is recorded as rare disease[3].
  • optic atrophy-intellectual disability syndrome's instance of is recorded as class of disease[4].
  • optic atrophy-intellectual disability syndrome's subclass of is recorded as genetic syndromic intellectual disability[5].
  • optic atrophy-intellectual disability syndrome's subclass of is recorded as syndromic hereditary optic neuropathy[6].
  • optic atrophy-intellectual disability syndrome's OMIM ID is recorded as 615722[7].
  • optic atrophy-intellectual disability syndrome's KEGG ID is recorded as H01378[8].
  • optic atrophy-intellectual disability syndrome's Orphanet ID is recorded as 401777[9].
  • optic atrophy-intellectual disability syndrome's genetic association is recorded as NR2F1[10].
  • optic atrophy-intellectual disability syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_401777[11].
  • optic atrophy-intellectual disability syndrome's UMLS CUI is recorded as C3810363[12].
  • optic atrophy-intellectual disability syndrome's ICD-10-CM is recorded as H47.2[13].
  • optic atrophy-intellectual disability syndrome's Mondo ID is recorded as MONDO_0014320[14].
  • optic atrophy-intellectual disability syndrome's WikiProjectMed ID is recorded as Bosch-Boonstra-Schaaf optic atrophy syndrome[15].
  • optic atrophy-intellectual disability syndrome's UniProt disease ID is recorded as DI-04111[16].

Why It Matters

optic atrophy-intellectual disability syndrome draws 9 Wikipedia views per month (rare_disease category, ranking #232 of 627).[2]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] ↑ . NR2F1 mutations cause optic atrophy with intellectual disability.. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.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). optic atrophy-intellectual disability syndrome. Retrieved October 13, 2026, from https://4ort.xyz/entity/optic-atrophy-intellectual-disability-syndrome
MLA “optic atrophy-intellectual disability syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 13 Oct. 2026, https://4ort.xyz/entity/optic-atrophy-intellectual-disability-syndrome.
BibTeX @misc{4ortxyz_optic-atrophy-intellectual-disability-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{optic atrophy-intellectual disability syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/optic-atrophy-intellectual-disability-syndrome}, note = {Accessed: 2026-10-13}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): optic atrophy-intellectual disability syndrome — https://4ort.xyz/entity/optic-atrophy-intellectual-disability-syndrome (retrieved 2026-10-13)

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