autosomal recessive osteopetrosis 3

osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21
MedicalCondition class_of_disease Q32145020
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autosomal recessive osteopetrosis 3

Summary

autosomal recessive osteopetrosis 3 is a class of disease[1].

Key Facts

  • autosomal recessive osteopetrosis 3's instance of is recorded as class of disease[2].
  • autosomal recessive osteopetrosis 3's subclass of is recorded as osteopetrosis[3].
  • autosomal recessive osteopetrosis 3's subclass of is recorded as autosomal recessive disease[4].
  • autosomal recessive osteopetrosis 3's subclass of is recorded as renal tubular acidosis[5].
  • autosomal recessive osteopetrosis 3's OMIM ID is recorded as 259730[6].
  • autosomal recessive osteopetrosis 3's KEGG ID is recorded as H00241[7].
  • autosomal recessive osteopetrosis 3's Disease Ontology ID is recorded as DOID:0110941[8].
  • autosomal recessive osteopetrosis 3's Orphanet ID is recorded as 2785[9].
  • autosomal recessive osteopetrosis 3's NCI Thesaurus ID is recorded as C118438[10].
  • autosomal recessive osteopetrosis 3's genetic association is recorded as CA2[11].
  • autosomal recessive osteopetrosis 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110941[12].
  • autosomal recessive osteopetrosis 3's exact match is recorded as http://identifiers.org/doid/DOID:0110941[13].
  • autosomal recessive osteopetrosis 3's UMLS CUI is recorded as C0345407[14].
  • autosomal recessive osteopetrosis 3's GARD rare disease ID is recorded as 4154[15].
  • autosomal recessive osteopetrosis 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • autosomal recessive osteopetrosis 3's Mondo ID is recorded as MONDO_0009818[17].
  • autosomal recessive osteopetrosis 3's UniProt disease ID is recorded as DI-01252[18].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . Disease Ontology. Retrieved . wikidata.org.
  3. [4] . Disease Ontology. Retrieved . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . kegg.jp. kegg.jp. Provenance: wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] . UMLS 2023. Retrieved . wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . 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 recessive osteopetrosis 3. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-3
MLA “autosomal recessive osteopetrosis 3.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-3.
BibTeX @misc{4ortxyz_autosomal-recessive-osteopetrosis-3_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive osteopetrosis 3}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-3}, 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 3 — https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-3 (retrieved 2026-05-03)

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