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blepharophimosis-intellectual disability syndrome, MKB type

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
MedicalCondition class_of_disease Q55999539
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Summary

blepharophimosis-intellectual disability syndrome, MKB type is a class of disease[1]. It is known by 10 alternative names across languages and contexts.[2]

Key Facts

  • Subclass of: blepharophimosis-intellectual disability syndrome[3]
  • Prevalence: 0.000001[4]
  • ICD-9-CM: 759.89[5]
  • NCI Thesaurus ID: C206528[6]
  • Genetic association: MED12[7]
  • Age of onset: infantile onset[8], neonatal onset[9]
  • Exact match: http://www.orpha.net/ORDO/Orphanet_293707[10]
  • Has phenotype: coarse facial features[11], Q141815892[12]
  • P14914: D293707[13]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Retrieved . wikidata.org.
  3. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  6. [8] ↑ . Retrieved . wikidata.org.
  7. [9] ↑ . Retrieved . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . Retrieved . wikidata.org.
  10. [12] ↑ . Retrieved . wikidata.org.
  11. [13] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). blepharophimosis-intellectual disability syndrome, MKB type. Retrieved October 23, 2026, from https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-mkb-type
MLA “blepharophimosis-intellectual disability syndrome, MKB type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-mkb-type.
BibTeX @misc{4ortxyz_blepharophimosis-intellectual-disability-syndrome-mkb-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{blepharophimosis-intellectual disability syndrome, MKB type}}, year = {2026}, url = {https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-mkb-type}, note = {Accessed: 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. 8h ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Uniprot disease id → DI-03741
    Mondo id → MONDO_0010477
    Nci thesaurus id → C206528
    Instance of → class of disease
    + 14 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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