cardiac anomalies-developmental delay-facial dysmorphism syndrome

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55784994

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cardiac anomalies-developmental delay-facial dysmorphism syndrome

Summary

cardiac anomalies-developmental delay-facial dysmorphism syndrome is a developmental defect during embryogenesis^[1].

Key Facts

cardiac anomalies-developmental delay-facial dysmorphism syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
cardiac anomalies-developmental delay-facial dysmorphism syndrome's instance of is recorded as rare disease^[3].
cardiac anomalies-developmental delay-facial dysmorphism syndrome's instance of is recorded as class of disease^[4].
cardiac anomalies-developmental delay-facial dysmorphism syndrome is a type of genetic syndromic intellectual disability^[5].
cardiac anomalies-developmental delay-facial dysmorphism syndrome is a type of genetic cardiac anomaly^[6].
cardiac anomalies-developmental delay-facial dysmorphism syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[7].
cardiac anomalies-developmental delay-facial dysmorphism syndrome is a type of rare syndrome with cardiac malformations^[8].
cardiac anomalies-developmental delay-facial dysmorphism syndrome's genetic association is recorded as MED13L^[9].
cardiac anomalies-developmental delay-facial dysmorphism syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_369891^[10].

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Quick Facts

Instance of rare disease, class of disease

Subclass of genetic syndromic intellectual disability, genetic cardiac anomaly, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, rare syndrome with cardiac malformations, developmental defect during embryogenesis

Properties

Exact match www.orpha.net

Genetic association MED13L

External References (6)

Icd-10-cm Q87.8

Mondo id MONDO_0014773

Omim id 616789

Orphanet id 369891

Umls cui C4225208, C5192431

Uniprot disease id DI-04642

References

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

Direct Wikidata claims

[2] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — instance of (P31): rare disease. wikidata.org.
[4] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — instance of (P31): class of disease. wikidata.org.
[5] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — subclass of (P279): genetic cardiac anomaly. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — subclass of (P279): multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — subclass of (P279): rare syndrome with cardiac malformations. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — genetic association (P2293): MED13L. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[10] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_369891. wikidata.org.

Class ancestry

[1] ↑ cardiac anomalies-developmental delay-facial dysmorphism syndrome is an instance of developmental defect during embryogenesis (Q55788864) [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). cardiac anomalies-developmental delay-facial dysmorphism syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cardiac-anomalies-developmental-delay-facial-dysmorphism-syndrome

MLA

“cardiac anomalies-developmental delay-facial dysmorphism syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cardiac-anomalies-developmental-delay-facial-dysmorphism-syndrome.

BibTeX

@misc{4ortxyz_cardiac-anomalies-developmental-delay-facial-dysmorphism-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cardiac anomalies-developmental delay-facial dysmorphism syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cardiac-anomalies-developmental-delay-facial-dysmorphism-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cardiac anomalies-developmental delay-facial dysmorphism syndrome — https://4ort.xyz/entity/cardiac-anomalies-developmental-delay-facial-dysmorphism-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/cardiac-anomalies-developmental-delay-facial-dysmorphism-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.

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

Mondo id → MONDO_0014773

Genetic association → MED13L

Orphanet id → 369891

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

+ 8 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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