spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

medical condition

MedicalCondition developmental_defect_during_embryogenesis Q7578954

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spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Summary

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a developmental defect during embryogenesis^[1].

Key Facts

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome's instance of is recorded as rare disease^[3].
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome's instance of is recorded as class of disease^[4].
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a type of spondyloepimetaphyseal dysplasia^[5].
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome's genetic association is recorded as DDR2^[6].
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93358^[7].

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Quick Facts

Instance of rare disease, class of disease

Subclass of spondyloepimetaphyseal dysplasia, developmental defect during embryogenesis

Properties

Exact match www.orpha.net

Genetic association DDR2

External References (9)

Gard rare disease id 10616

Icd-10-cm Q77.7

Kegg id H00777

Mesh descriptor id C564794

Mondo id MONDO_0010077

Omim id 271665

Orphanet id 93358

Umls cui C1849011, C4707851

Uniprot disease id DI-02538

References

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

Direct Wikidata claims

[2] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — instance of (P31): rare disease. wikidata.org.
[4] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — instance of (P31): class of disease. wikidata.org.
[5] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — subclass of (P279): spondyloepimetaphyseal dysplasia. wikidata.org.
[6] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — genetic association (P2293): DDR2. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[7] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_93358. wikidata.org.

Class ancestry

[1] ↑ spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome

MLA

“spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome.

BibTeX

@misc{4ortxyz_spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome — https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome · 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.

4w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0010077

Genetic association → DDR2

Gard rare disease id → 10616

Orphanet id → 93358

+ 11 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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