multiple synostoses syndrome

dysostosis that is characterized by premature joint ankylosis and has material basis in autosomal dominant inhertitance

MedicalCondition head_and_neck_disease Q18553479

Press Enter · cited answer in seconds

multiple synostoses syndrome

Summary

multiple synostoses syndrome is a head and neck disease^[1].

Key Facts

multiple synostoses syndrome's instance of is recorded as head and neck disease^[2].
multiple synostoses syndrome's instance of is recorded as developmental defect during embryogenesis^[3].
multiple synostoses syndrome's instance of is recorded as rare disease^[4].
multiple synostoses syndrome's instance of is recorded as class of disease^[5].
multiple synostoses syndrome is a type of dysostosis^[6].
multiple synostoses syndrome's genetic association is recorded as GDF5^[7].
multiple synostoses syndrome's genetic association is recorded as FGF9^[8].
multiple synostoses syndrome's genetic association is recorded as NOG^[9].
multiple synostoses syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050794^[10].
multiple synostoses syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050794^[11].
multiple synostoses syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3237^[12].
multiple synostoses syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine^[13].

⭐ Popularity Graph

0/100 long tail

📊 Google Search Volume

no search data yet

Quick Facts

Instance of head and neck disease, developmental defect during embryogenesis, rare disease, class of disease

Subclass of dysostosis

Properties

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

Genetic association GDF5, FGF9, NOG

On focus list of wikimedia project WikiProject Medicine

External References (10)

Disease ontology id DOID:0050794

Gard rare disease id 9916

Google knowledge graph id /g/11f5h257c4

Kegg id H00484

Mesh descriptor id C537380

Mondo id MONDO_0012394

Omim id 610k (186k–613k, n=3)

Orphanet id 3237

Umls cui C1832708

Uniprot disease id DI-02011

References

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

Direct Wikidata claims

[2] ↑ multiple synostoses syndrome — instance of (P31): head and neck disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ multiple synostoses syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[4] ↑ multiple synostoses syndrome — instance of (P31): rare disease. wikidata.org.
[5] ↑ multiple synostoses syndrome — instance of (P31): class of disease. wikidata.org.
[6] ↑ multiple synostoses syndrome — subclass of (P279): dysostosis. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ multiple synostoses syndrome — genetic association (P2293): GDF5. Q905695. Retrieved 2019-08-13. wikidata.org.
[8] ↑ multiple synostoses syndrome — genetic association (P2293): FGF9. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. wikidata.org.
[9] ↑ multiple synostoses syndrome — genetic association (P2293): NOG. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. wikidata.org.
[10] ↑ multiple synostoses syndrome — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0050794. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[11] ↑ multiple synostoses syndrome — exact match (P2888): http://identifiers.org/doid/DOID:0050794. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[12] ↑ multiple synostoses syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_3237. wikidata.org.
[13] ↑ multiple synostoses syndrome — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ multiple synostoses syndrome is an instance of head and neck disease (Q55789477) [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). multiple synostoses syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/multiple-synostoses-syndrome

MLA

“multiple synostoses syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/multiple-synostoses-syndrome.

BibTeX

@misc{4ortxyz_multiple-synostoses-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{multiple synostoses syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/multiple-synostoses-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): multiple synostoses syndrome — https://4ort.xyz/entity/multiple-synostoses-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/multiple-synostoses-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.

10d ago · BonifaceFR · 2026-05-19 view diff on Wikidata ↗

Instance of → head and neck disease, developmental defect during embryogenesis, rare disease +1

Wikidata description → dysostosis that is characterized by premature joint ankylosis and has material b

Exact match → http://purl.obolibrary.org/obo/DOID_0050794, http://identifiers.org/doid/DOID:0050794, http://www.orpha.net/ORDO/Orphanet_3237

Imported from → —

+ 13 other properties edited (see Wikidata diff for full list)

"/* wbsetclaim-create:2||1 */ [[Property:P1550]]: 3237"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.