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autosomal dominant osteopetrosis 2

human disease
MedicalCondition developmental_defect_during_embryogenesis Q32144976
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autosomal dominant osteopetrosis 2

Summary

autosomal dominant osteopetrosis 2 is a developmental defect during embryogenesis[1].

Key Facts

  • autosomal dominant osteopetrosis 2's instance of is recorded as developmental defect during embryogenesis[2].
  • autosomal dominant osteopetrosis 2's instance of is recorded as rare disease[3].
  • autosomal dominant osteopetrosis 2's instance of is recorded as class of disease[4].
  • autosomal dominant osteopetrosis 2's subclass of is recorded as osteopetrosis[5].
  • autosomal dominant osteopetrosis 2's subclass of is recorded as hereditary optic neuropathy[6].
  • autosomal dominant osteopetrosis 2's subclass of is recorded as unclassified primitive or secondary maculopathy[7].
  • autosomal dominant osteopetrosis 2's subclass of is recorded as hereditary retinal dystrophy[8].
  • autosomal dominant osteopetrosis 2's subclass of is recorded as autosomal dominant disease[9].
  • autosomal dominant osteopetrosis 2's subclass of is recorded as spinal disease[10].
  • autosomal dominant osteopetrosis 2's OMIM ID is recorded as 166600[11].
  • autosomal dominant osteopetrosis 2's Disease Ontology ID is recorded as DOID:0110938[12].
  • autosomal dominant osteopetrosis 2's symptoms and signs is recorded as abscess[13].
  • autosomal dominant osteopetrosis 2's Orphanet ID is recorded as 53[14].
  • autosomal dominant osteopetrosis 2's health specialty is recorded as medical genetics[15].
  • autosomal dominant osteopetrosis 2's genetic association is recorded as CLCN7[16].
  • autosomal dominant osteopetrosis 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110938[17].
  • autosomal dominant osteopetrosis 2's exact match is recorded as http://identifiers.org/doid/DOID:0110938[18].
  • autosomal dominant osteopetrosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_53[19].
  • autosomal dominant osteopetrosis 2's UMLS CUI is recorded as C1833700[20].
  • autosomal dominant osteopetrosis 2's UMLS CUI is recorded as C3179239[21].
  • autosomal dominant osteopetrosis 2's ICD-10-CM is recorded as Q78.2[22].
  • autosomal dominant osteopetrosis 2's GARD rare disease ID is recorded as 383[23].
  • autosomal dominant osteopetrosis 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
  • autosomal dominant osteopetrosis 2's Mondo ID is recorded as MONDO_0008156[25].
  • autosomal dominant osteopetrosis 2's UniProt disease ID is recorded as DI-00885[26].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [17] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] ↑ . Disease Ontology. Retrieved . wikidata.org.
  21. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [23] ↑ . Disease Ontology. Retrieved . wikidata.org.
  23. [24] ↑ . wikidata.org.
  24. [25] ↑ . wikidata.org.
  25. [26] ↑ . wikidata.org.

Class ancestry

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

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