autosomal recessive osteopetrosis 8

osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the SNX10 gene on chromosome 7p15

MedicalCondition rare_disease Q32145005

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autosomal recessive osteopetrosis 8

Summary

autosomal recessive osteopetrosis 8 is a rare disease^[1].

Key Facts

autosomal recessive osteopetrosis 8's instance of is recorded as rare disease^[2].
autosomal recessive osteopetrosis 8's instance of is recorded as class of disease^[3].
autosomal recessive osteopetrosis 8's subclass of is recorded as osteopetrosis^[4].
autosomal recessive osteopetrosis 8's subclass of is recorded as autosomal recessive disease^[5].
autosomal recessive osteopetrosis 8's OMIM ID is recorded as 615085^[6].
autosomal recessive osteopetrosis 8's OMIM ID is recorded as 615085^[7].
autosomal recessive osteopetrosis 8's Disease Ontology ID is recorded as DOID:0110940^[8].
autosomal recessive osteopetrosis 8's NCI Thesaurus ID is recorded as C150556^[9].
autosomal recessive osteopetrosis 8's genetic association is recorded as SNX10^[10].
autosomal recessive osteopetrosis 8's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110940^[11].
autosomal recessive osteopetrosis 8's exact match is recorded as http://identifiers.org/doid/DOID:0110940^[12].
autosomal recessive osteopetrosis 8's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_667^[13].
autosomal recessive osteopetrosis 8's UMLS CUI is recorded as C3554478^[14].
autosomal recessive osteopetrosis 8's on focus list of Wikimedia project is recorded as WikiProject Medicine^[15].
autosomal recessive osteopetrosis 8's Mondo ID is recorded as MONDO_0014040^[16].
autosomal recessive osteopetrosis 8's UniProt disease ID is recorded as DI-03656^[17].

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Quick Facts

Instance of rare disease, class of disease

Subclass of osteopetrosis, autosomal recessive disease

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net

Genetic association SNX10

Imported from wholeness_audit_2026-05-02

Nci thesaurus id C150556

On focus list of wikimedia project WikiProject Medicine

External References (5)

Disease ontology id DOID:0110940

Mondo id MONDO_0014040

Omim id 615085, 615085

Umls cui C3554478

Uniprot disease id DI-03656

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive osteopetrosis 8 — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal recessive osteopetrosis 8 — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive osteopetrosis 8 — subclass of (P279): osteopetrosis. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[5] ↑ autosomal recessive osteopetrosis 8 — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ autosomal recessive osteopetrosis 8 — OMIM ID (P492): 615085. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[7] ↑ autosomal recessive osteopetrosis 8 — OMIM ID (P492): 615085. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[8] ↑ autosomal recessive osteopetrosis 8 — Disease Ontology ID (P699): DOID:0110940. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[9] ↑ autosomal recessive osteopetrosis 8 — NCI Thesaurus ID (P1748): C150556. wikidata.org.
[10] ↑ autosomal recessive osteopetrosis 8 — genetic association (P2293): SNX10. Q905695. Retrieved 2019-08-13. wikidata.org.
[11] ↑ autosomal recessive osteopetrosis 8 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110940. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[12] ↑ autosomal recessive osteopetrosis 8 — exact match (P2888): http://identifiers.org/doid/DOID:0110940. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[13] ↑ autosomal recessive osteopetrosis 8 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_667. wikidata.org.
[14] ↑ autosomal recessive osteopetrosis 8 — UMLS CUI (P2892): C3554478. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[15] ↑ autosomal recessive osteopetrosis 8 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[16] ↑ autosomal recessive osteopetrosis 8 — Mondo ID (P5270): MONDO_0014040. wikidata.org.
[17] ↑ autosomal recessive osteopetrosis 8 — UniProt disease ID (P11430): DI-03656. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive osteopetrosis 8 is an instance of rare disease (Q929833) [P31, primary]. 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 8. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-8

MLA

“autosomal recessive osteopetrosis 8.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-8.

BibTeX

@misc{4ortxyz_autosomal-recessive-osteopetrosis-8_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive osteopetrosis 8}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-8}, 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 8 — https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-8 (retrieved 2026-05-03)

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