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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blepharophimosis-intellectual disability syndrome, MKB type

Summary

blepharophimosis-intellectual disability syndrome, MKB type is a class of disease[1].

Key Facts

  • blepharophimosis-intellectual disability syndrome, MKB type's instance of is recorded as class of disease[2].
  • blepharophimosis-intellectual disability syndrome, MKB type's subclass of is recorded as blepharophimosis-intellectual disability syndrome[3].
  • blepharophimosis-intellectual disability syndrome, MKB type's OMIM ID is recorded as 300895[4].
  • blepharophimosis-intellectual disability syndrome, MKB type's Orphanet ID is recorded as 293707[5].
  • blepharophimosis-intellectual disability syndrome, MKB type's ICD-9-CM is recorded as 759.89[6].
  • blepharophimosis-intellectual disability syndrome, MKB type's NCI Thesaurus ID is recorded as C206528[7].
  • blepharophimosis-intellectual disability syndrome, MKB type's genetic association is recorded as MED12[8].
  • blepharophimosis-intellectual disability syndrome, MKB type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_293707[9].
  • blepharophimosis-intellectual disability syndrome, MKB type's UMLS CUI is recorded as C3698541[10].
  • blepharophimosis-intellectual disability syndrome, MKB type's Mondo ID is recorded as MONDO_0010477[11].
  • blepharophimosis-intellectual disability syndrome, MKB type's UniProt disease ID is recorded as DI-03741[12].

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

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). blepharophimosis-intellectual disability syndrome, MKB type. Retrieved May 3, 2026, from https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome-mkb-type
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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: 2026-05-03}}
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