Home › Entities › developmental_defect_during_embryogenesis › autosomal recessive osteopetrosis 5

autosomal recessive osteopetrosis 5

osteopetrosis characterized by autosomal recessive inheritance that has material basis in mutation in the OSTM1 gene on chromosome 6q21
MedicalCondition developmental_defect_during_embryogenesis Q32144989
Press Enter · cited answer in seconds

Summary

autosomal recessive osteopetrosis 5 is a developmental defect during embryogenesis[1]. It is known by 10 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: rare disease[3], class of disease[4]
  • Subclass of: osteopetrosis[5], autosomal recessive disease[6]
  • Genetic association: OSTM1[7]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0110939[8], http://identifiers.org/doid/DOID:0110939[9], http://www.orpha.net/ORDO/Orphanet_85179[10]
  • On focus list of Wikimedia project: WikiProject Medicine[11]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . UniProt. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  8. [10] ↑ . 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). autosomal recessive osteopetrosis 5. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-5
MLA “autosomal recessive osteopetrosis 5.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-5.
BibTeX @misc{4ortxyz_autosomal-recessive-osteopetrosis-5_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive osteopetrosis 5}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-5}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive osteopetrosis 5 — https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-5 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-5 · Last refreshed:

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. 15w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0009817
    Genetic association → OSTM1
    Gard rare disease id → 4153
    Instance of → developmental defect during embryogenesis, rare disease, class of disease
    + 10 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.