osteoporosis-pseudoglioma syndrome

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures
MedicalCondition developmental_defect_during_embryogenesis Q32136402
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osteoporosis-pseudoglioma syndrome

Summary

osteoporosis-pseudoglioma syndrome is a developmental defect during embryogenesis[1]. It draws 5 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #131 of 308).[2]

Key Facts

  • osteoporosis-pseudoglioma syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • osteoporosis-pseudoglioma syndrome's instance of is recorded as class of disease[4].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as autosomal recessive disease[5].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as osteogenesis imperfecta[6].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as retinal disease[7].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as genetic syndromic intellectual disability[8].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as primary bone dysplasia with decreased bone density[9].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as congenital vitreoretinal dysplasia[10].
  • osteoporosis-pseudoglioma syndrome's subclass of is recorded as syndrome[11].
  • osteoporosis-pseudoglioma syndrome's MeSH descriptor ID is recorded as C536063[12].
  • osteoporosis-pseudoglioma syndrome's OMIM ID is recorded as 259770[13].
  • osteoporosis-pseudoglioma syndrome's KEGG ID is recorded as H00451[14].
  • osteoporosis-pseudoglioma syndrome's Disease Ontology ID is recorded as DOID:0060849[15].
  • osteoporosis-pseudoglioma syndrome's Orphanet ID is recorded as 2788[16].
  • osteoporosis-pseudoglioma syndrome's NCI Thesaurus ID is recorded as C130998[17].
  • osteoporosis-pseudoglioma syndrome's health specialty is recorded as medical genetics[18].
  • osteoporosis-pseudoglioma syndrome's genetic association is recorded as LRP5[19].
  • osteoporosis-pseudoglioma syndrome's Google Knowledge Graph ID is recorded as /g/11qr0wshb8[20].
  • osteoporosis-pseudoglioma syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060849[21].
  • osteoporosis-pseudoglioma syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060849[22].
  • osteoporosis-pseudoglioma syndrome's UMLS CUI is recorded as C0432252[23].
  • osteoporosis-pseudoglioma syndrome's ICD-10-CM is recorded as Q87.5[24].
  • osteoporosis-pseudoglioma syndrome's GARD rare disease ID is recorded as 4160[25].
  • osteoporosis-pseudoglioma syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[26].
  • osteoporosis-pseudoglioma syndrome's Mondo ID is recorded as MONDO_0009820[27].

Why It Matters

osteoporosis-pseudoglioma syndrome draws 5 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #131 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] . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Disease Ontology. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . Disease Ontology. Retrieved . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . Disease Ontology. Retrieved . wikidata.org.
  20. [22] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  21. [23] . Disease Ontology. Retrieved . wikidata.org.
  22. [24] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  23. [25] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . 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). osteoporosis-pseudoglioma syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/osteoporosis-pseudoglioma-syndrome
MLA “osteoporosis-pseudoglioma syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/osteoporosis-pseudoglioma-syndrome.
BibTeX @misc{4ortxyz_osteoporosis-pseudoglioma-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{osteoporosis-pseudoglioma syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/osteoporosis-pseudoglioma-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): osteoporosis-pseudoglioma syndrome — https://4ort.xyz/entity/osteoporosis-pseudoglioma-syndrome (retrieved 2026-05-03)

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