CK syndrome

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55782485

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CK syndrome

Summary

CK syndrome is a developmental defect during embryogenesis^[1].

Key Facts

CK syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
CK syndrome's instance of is recorded as rare disease^[3].
CK syndrome's instance of is recorded as class of disease^[4].
CK syndrome's subclass of is recorded as other syndrome with a central nervous system malformation as major feature^[5].
CK syndrome's subclass of is recorded as rare genetic developmental defect during embryogenesis^[6].
CK syndrome's subclass of is recorded as genetic syndromic intellectual disability^[7].
CK syndrome's subclass of is recorded as X-linked intellectual disability^[8].
CK syndrome's subclass of is recorded as X-linked recessive disease^[9].
CK syndrome's subclass of is recorded as lipid metabolism disorder^[10].
CK syndrome's OMIM ID is recorded as 300831^[11].
CK syndrome's KEGG ID is recorded as H01917^[12].
CK syndrome's Disease Ontology ID is recorded as DOID:0111898^[13].
CK syndrome's Orphanet ID is recorded as 251383^[14].
CK syndrome's genetic association is recorded as NSDHL^[15].
CK syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_251383^[16].
CK syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111898^[17].
CK syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111898^[18].
CK syndrome's UMLS CUI is recorded as C3151781^[19].
CK syndrome's Mondo ID is recorded as MONDO_0010441^[20].
CK syndrome's UniProt disease ID is recorded as DI-03007^[21].

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Quick Facts

Instance of developmental defect during embryogenesis, rare disease, class of disease

Subclass of other syndrome with a central nervous system malformation as major feature, rare genetic developmental defect during embryogenesis, genetic syndromic intellectual disability, X-linked intellectual disability, X-linked recessive disease, lipid metabolism disorder

Properties

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

Genetic association NSDHL

Imported from wholeness_audit_2026-05-02

External References (7)

Disease ontology id DOID:0111898

Kegg id H01917

Mondo id MONDO_0010441

Omim id 300831

Orphanet id 251383

Umls cui C3151781

Uniprot disease id DI-03007

References

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

Direct Wikidata claims

[2] ↑ CK syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ CK syndrome — instance of (P31): rare disease. wikidata.org.
[4] ↑ CK syndrome — instance of (P31): class of disease. wikidata.org.
[5] ↑ CK syndrome — subclass of (P279): other syndrome with a central nervous system malformation as major feature. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ CK syndrome — subclass of (P279): rare genetic developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ CK syndrome — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ CK syndrome — subclass of (P279): X-linked intellectual disability. wikidata.org.
[9] ↑ CK syndrome — subclass of (P279): X-linked recessive disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ CK syndrome — subclass of (P279): lipid metabolism disorder. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[11] ↑ CK syndrome — OMIM ID (P492): 300831. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[12] ↑ CK syndrome — KEGG ID (P665): H01917. wikidata.org.
[13] ↑ CK syndrome — Disease Ontology ID (P699): DOID:0111898. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[14] ↑ CK syndrome — Orphanet ID (P1550): 251383. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[15] ↑ CK syndrome — genetic association (P2293): NSDHL. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[16] ↑ CK syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_251383. wikidata.org.
[17] ↑ CK syndrome — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111898. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[18] ↑ CK syndrome — exact match (P2888): http://identifiers.org/doid/DOID:0111898. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[19] ↑ CK syndrome — UMLS CUI (P2892): C3151781. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[20] ↑ CK syndrome — Mondo ID (P5270): MONDO_0010441. wikidata.org.
[21] ↑ CK syndrome — UniProt disease ID (P11430): DI-03007. wikidata.org.

Class ancestry

[1] ↑ CK syndrome is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. Wikidata. wikidata.org.

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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). CK syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/ck-syndrome

MLA “CK syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/ck-syndrome.

BibTeX

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

LLM prompt

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

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