chondrodysplasia with joint dislocations, gPAPP type

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55784094

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Key Facts

Instance of: rare disease^[1], class of disease^[2]
Subclass of: primary bone dysplasia with multiple joint dislocations^[3]
Said to be the same as: chondrodysplasia with joint dislocations gPAPP type^[4]
Genetic association: BPNT2^[5]
Exact match: http://www.orpha.net/ORDO/Orphanet_280586^[6]

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Quick Facts

Instance of rare disease, class of disease

Subclass of primary bone dysplasia with multiple joint dislocations, developmental defect during embryogenesis

Properties

Exact match www.orpha.net

Genetic association BPNT2

Said to be the same as chondrodysplasia with joint dislocations gPAPP type

External References (7)

Gard rare disease id 11009

Kegg id H02306

Mondo id MONDO_0013561

Omim id 614078

Orphanet id 280586

Umls cui C3279757

Uniprot disease id DI-03139

🏷️ Also known as

en chondrodysplasia with joint dislocations, gPAPP type en gPAPP deficiency

References

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

Direct Wikidata claims

[1] ↑ chondrodysplasia with joint dislocations, gPAPP type — instance of (P31): rare disease. wikidata.org.
[2] ↑ chondrodysplasia with joint dislocations, gPAPP type — instance of (P31): class of disease. wikidata.org.
[3] ↑ chondrodysplasia with joint dislocations, gPAPP type — subclass of (P279): primary bone dysplasia with multiple joint dislocations. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[4] ↑ chondrodysplasia with joint dislocations, gPAPP type — said to be the same as (P460): chondrodysplasia with joint dislocations gPAPP type. wikidata.org.
[5] ↑ chondrodysplasia with joint dislocations, gPAPP type — genetic association (P2293): BPNT2. UniProt. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[6] ↑ chondrodysplasia with joint dislocations, gPAPP type — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_280586. 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). chondrodysplasia with joint dislocations, gPAPP type. Retrieved May 3, 2026, from https://4ort.xyz/entity/chondrodysplasia-with-joint-dislocations-gpapp-type

MLA

“chondrodysplasia with joint dislocations, gPAPP type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/chondrodysplasia-with-joint-dislocations-gpapp-type.

BibTeX

@misc{4ortxyz_chondrodysplasia-with-joint-dislocations-gpapp-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{chondrodysplasia with joint dislocations, gPAPP type}}, year = {2026}, url = {https://4ort.xyz/entity/chondrodysplasia-with-joint-dislocations-gpapp-type}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): chondrodysplasia with joint dislocations, gPAPP type — https://4ort.xyz/entity/chondrodysplasia-with-joint-dislocations-gpapp-type (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/chondrodysplasia-with-joint-dislocations-gpapp-type · Last refreshed: May 3, 2026

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.

15w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0013561

Genetic association → BPNT2

Kegg id → H02306

Orphanet id → 280586

+ 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"

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