early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55784798

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early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Summary

early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a developmental defect during embryogenesis^[1].

Key Facts

early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome's instance of is recorded as rare disease^[3].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome's instance of is recorded as class of disease^[4].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a type of genetic syndromic intellectual disability^[5].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a type of nervous system anomaly with eye involvement^[6].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[7].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome's genetic association is recorded as DOCK7^[8].
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_411986^[9].

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Quick Facts

Instance of rare disease, class of disease

Subclass of genetic syndromic intellectual disability, nervous system anomaly with eye involvement, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, developmental defect during embryogenesis

Properties

Exact match www.orpha.net

Genetic association DOCK7

External References (6)

Icd-10-cm G40.4

Mondo id MONDO_0014371

Omim id 615859

Orphanet id 411986

Umls cui C4014492

Uniprot disease id DI-04135

References

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

Direct Wikidata claims

[2] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — instance of (P31): rare disease. wikidata.org.
[4] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — instance of (P31): class of disease. wikidata.org.
[5] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — subclass of (P279): nervous system anomaly with eye involvement. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-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] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — genetic association (P2293): DOCK7. Q905695. Retrieved 2019-08-13. wikidata.org.
[9] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_411986. wikidata.org.

Class ancestry

[1] ↑ early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism 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). early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome

MLA

“early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome.

BibTeX

@misc{4ortxyz_early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-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): early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome — https://4ort.xyz/entity/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-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.

5w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0014371

Genetic association → DOCK7

Orphanet id → 411986

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"

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