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blepharophimosis-intellectual disability syndrome, Ohdo type

syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability
MedicalCondition rare_disease Q3961681
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Summary

blepharophimosis-intellectual disability syndrome, Ohdo type is a rare disease[1].

Key Facts

  • blepharophimosis-intellectual disability syndrome, Ohdo type's instance of is recorded as rare disease[2].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's instance of is recorded as class of disease[3].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's subclass of is recorded as syndrome[4].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's subclass of is recorded as blepharophimosis-intellectual disability syndrome[5].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's OMIM ID is recorded as 249620[6].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's Disease Ontology ID is recorded as DOID:0060289[7].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's symptoms and signs is recorded as ptosis[8].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's Orphanet ID is recorded as 2728[9].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's genetic association is recorded as MED12[10].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060289[11].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://identifiers.org/doid/DOID:0060289[12].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2728[13].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://purl.obolibrary.org/obo/MONDO_0009583[14].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://linkedlifedata.com/resource/umls/id/C2931643[15].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://linkedlifedata.com/resource/umls/id/C0796094[16].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://identifiers.org/omim/249620[17].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's exact match is recorded as http://identifiers.org/snomedct/412787009[18].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's UMLS CUI is recorded as C0796094[19].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's UMLS CUI is recorded as C2931643[20].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's Mondo ID is recorded as MONDO_0009583[22].
  • blepharophimosis-intellectual disability syndrome, Ohdo type's SNOMED CT ID is recorded as 412787009[23].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Mutations in MED12 cause X-linked Ohdo syndrome. wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  15. [16] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  18. [19] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  19. [20] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.
  22. [23] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). blepharophimosis-intellectual disability syndrome, Ohdo type. Retrieved October 20, 2026, from https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-ohdo-type
MLA “blepharophimosis-intellectual disability syndrome, Ohdo type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 20 Oct. 2026, https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-ohdo-type.
BibTeX @misc{4ortxyz_blepharophimosis-intellectual-disability-syndrome-ohdo-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{blepharophimosis-intellectual disability syndrome, Ohdo type}}, year = {2026}, url = {https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-ohdo-type}, note = {Accessed: 2026-10-20}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): blepharophimosis-intellectual disability syndrome, Ohdo type — https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-ohdo-type (retrieved 2026-10-20)

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