severe neonatal-onset encephalopathy with microcephaly

human disease

MedicalCondition rare_disease Q55782469

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severe neonatal-onset encephalopathy with microcephaly

Summary

severe neonatal-onset encephalopathy with microcephaly is a rare disease^[1].

Key Facts

severe neonatal-onset encephalopathy with microcephaly's instance of is recorded as rare disease^[2].
severe neonatal-onset encephalopathy with microcephaly's instance of is recorded as class of disease^[3].
severe neonatal-onset encephalopathy with microcephaly is a type of neonatal epilepsy syndrome^[4].
severe neonatal-onset encephalopathy with microcephaly is a type of monogenic disease with epilepsy^[5].
severe neonatal-onset encephalopathy with microcephaly is a type of encephalopathy^[6].
severe neonatal-onset encephalopathy with microcephaly is a type of X-linked recessive disease^[7].
severe neonatal-onset encephalopathy with microcephaly's NCI Thesaurus ID is recorded as C132293^[8].
severe neonatal-onset encephalopathy with microcephaly's genetic association is recorded as MECP2^[9].
severe neonatal-onset encephalopathy with microcephaly's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_209370^[10].
severe neonatal-onset encephalopathy with microcephaly's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111932^[11].
severe neonatal-onset encephalopathy with microcephaly's exact match is recorded as http://identifiers.org/doid/DOID:0111932^[12].

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Quick Facts

Instance of rare disease, class of disease

Subclass of neonatal epilepsy syndrome, monogenic disease with epilepsy, encephalopathy, X-linked recessive disease

Properties

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

Genetic association MECP2

Nci thesaurus id C132293

External References (8)

Disease ontology id DOID:0111932

Icd-10-cm Q02

Kegg id H01211

Mesh descriptor id C566878

Mondo id MONDO_0010397

Omim id 300673

Orphanet id 209370

Umls cui C1968556, C4749821

🏷️ Also known as

en ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS en Severe congenital encephalopathy due to MECP2 mutation en severe neonatal-onset encephalopathy with microcephaly es encefalopatía neonatal grave con microcefalia

References

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

Direct Wikidata claims

[2] ↑ severe neonatal-onset encephalopathy with microcephaly — instance of (P31): rare disease. wikidata.org.
[3] ↑ severe neonatal-onset encephalopathy with microcephaly — instance of (P31): class of disease. wikidata.org.
[4] ↑ severe neonatal-onset encephalopathy with microcephaly — subclass of (P279): neonatal epilepsy syndrome. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ severe neonatal-onset encephalopathy with microcephaly — subclass of (P279): monogenic disease with epilepsy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ severe neonatal-onset encephalopathy with microcephaly — subclass of (P279): encephalopathy. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[7] ↑ severe neonatal-onset encephalopathy with microcephaly — subclass of (P279): X-linked recessive disease. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[8] ↑ severe neonatal-onset encephalopathy with microcephaly — NCI Thesaurus ID (P1748): C132293. wikidata.org.
[9] ↑ severe neonatal-onset encephalopathy with microcephaly — genetic association (P2293): MECP2. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[10] ↑ severe neonatal-onset encephalopathy with microcephaly — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_209370. wikidata.org.
[11] ↑ severe neonatal-onset encephalopathy with microcephaly — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111932. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[12] ↑ severe neonatal-onset encephalopathy with microcephaly — exact match (P2888): http://identifiers.org/doid/DOID:0111932. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ severe neonatal-onset encephalopathy with microcephaly is an instance of rare disease (Q929833) [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). severe neonatal-onset encephalopathy with microcephaly. Retrieved May 3, 2026, from https://4ort.xyz/entity/severe-neonatal-onset-encephalopathy-with-microcephaly

MLA

“severe neonatal-onset encephalopathy with microcephaly.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/severe-neonatal-onset-encephalopathy-with-microcephaly.

BibTeX

@misc{4ortxyz_severe-neonatal-onset-encephalopathy-with-microcephaly_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{severe neonatal-onset encephalopathy with microcephaly}}, year = {2026}, url = {https://4ort.xyz/entity/severe-neonatal-onset-encephalopathy-with-microcephaly}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): severe neonatal-onset encephalopathy with microcephaly — https://4ort.xyz/entity/severe-neonatal-onset-encephalopathy-with-microcephaly (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/severe-neonatal-onset-encephalopathy-with-microcephaly · 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.

7w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0010397

Imported from → —

Nci thesaurus id → C132293

Umls cui → C1968556, C4749821

+ 11 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"

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