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osteogenesis imperfecta type 1

osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3
MedicalCondition class_of_disease Q27677735
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osteogenesis imperfecta type 1

Summary

osteogenesis imperfecta type 1 is a class of disease[1]. It is known by 4 alternative names across languages and contexts.[2]

Key Facts

  • osteogenesis imperfecta type 1's instance of is recorded as class of disease[3].
  • osteogenesis imperfecta type 1 is a type of osteogenesis imperfecta[4].
  • osteogenesis imperfecta type 1 is a type of genetic disease[5].
  • osteogenesis imperfecta type 1 is a type of autosomal dominant disease[6].
  • osteogenesis imperfecta type 1's NCI Thesaurus ID is recorded as C99003[7].
  • osteogenesis imperfecta type 1's health specialty is recorded as medical genetics[8].
  • osteogenesis imperfecta type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110334[9].
  • osteogenesis imperfecta type 1's exact match is recorded as http://identifiers.org/doid/DOID:0110334[10].
  • osteogenesis imperfecta type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].

Why It Matters

osteogenesis imperfecta type 1 is known by 4 alternative names across languages and contexts.[2]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [11] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.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). osteogenesis imperfecta type 1. Retrieved May 3, 2026, from https://4ort.xyz/entity/osteogenesis-imperfecta-type-1
MLA “osteogenesis imperfecta type 1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/osteogenesis-imperfecta-type-1.
BibTeX @misc{4ortxyz_osteogenesis-imperfecta-type-1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{osteogenesis imperfecta type 1}}, year = {2026}, url = {https://4ort.xyz/entity/osteogenesis-imperfecta-type-1}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): osteogenesis imperfecta type 1 — https://4ort.xyz/entity/osteogenesis-imperfecta-type-1 (retrieved 2026-05-03)

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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. 10w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0008146
    Imported from → —
    Nci thesaurus id → C99003
    Disease ontology id → DOID:0110334
    + 12 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.