blepharophimosis-intellectual disability syndrome

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55787025
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blepharophimosis-intellectual disability syndrome

Summary

blepharophimosis-intellectual disability syndrome is a developmental defect during embryogenesis[1]. It draws 2 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]

Key Facts

  • blepharophimosis-intellectual disability syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • blepharophimosis-intellectual disability syndrome's instance of is recorded as class of disease[4].
  • blepharophimosis-intellectual disability syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[5].
  • blepharophimosis-intellectual disability syndrome's subclass of is recorded as genetic syndromic intellectual disability[6].
  • blepharophimosis-intellectual disability syndrome's KEGG ID is recorded as H01795[7].
  • blepharophimosis-intellectual disability syndrome's Orphanet ID is recorded as 293642[8].
  • blepharophimosis-intellectual disability syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_293642[9].
  • blepharophimosis-intellectual disability syndrome's UMLS CUI is recorded as C5229849[10].
  • blepharophimosis-intellectual disability syndrome's GARD rare disease ID is recorded as 10892[11].
  • blepharophimosis-intellectual disability syndrome's Mondo ID is recorded as MONDO_0017393[12].
  • blepharophimosis-intellectual disability syndrome's WikiProjectMed ID is recorded as Blepharophimosis intellectual disability syndromes[13].

Why It Matters

blepharophimosis-intellectual disability syndrome draws 2 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . UMLS 2023. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . 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). blepharophimosis-intellectual disability syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome
MLA “blepharophimosis-intellectual disability syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome.
BibTeX @misc{4ortxyz_blepharophimosis-intellectual-disability-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{blepharophimosis-intellectual disability syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): blepharophimosis-intellectual disability syndrome — https://4ort.xyz/entity/blepharophimosis-intellectual-disability-syndrome (retrieved 2026-05-03)

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