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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's subclass of is recorded as neonatal epilepsy syndrome[4].
  • severe neonatal-onset encephalopathy with microcephaly's subclass of is recorded as monogenic disease with epilepsy[5].
  • severe neonatal-onset encephalopathy with microcephaly's subclass of is recorded as encephalopathy[6].
  • severe neonatal-onset encephalopathy with microcephaly's subclass of is recorded as X-linked recessive disease[7].
  • severe neonatal-onset encephalopathy with microcephaly's MeSH descriptor ID is recorded as C566878[8].
  • severe neonatal-onset encephalopathy with microcephaly's OMIM ID is recorded as 300673[9].
  • severe neonatal-onset encephalopathy with microcephaly's KEGG ID is recorded as H01211[10].
  • severe neonatal-onset encephalopathy with microcephaly's Disease Ontology ID is recorded as DOID:0111932[11].
  • severe neonatal-onset encephalopathy with microcephaly's Orphanet ID is recorded as 209370[12].
  • severe neonatal-onset encephalopathy with microcephaly's NCI Thesaurus ID is recorded as C132293[13].
  • severe neonatal-onset encephalopathy with microcephaly's genetic association is recorded as MECP2[14].
  • severe neonatal-onset encephalopathy with microcephaly's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_209370[15].
  • severe neonatal-onset encephalopathy with microcephaly's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111932[16].
  • severe neonatal-onset encephalopathy with microcephaly's exact match is recorded as http://identifiers.org/doid/DOID:0111932[17].
  • severe neonatal-onset encephalopathy with microcephaly's UMLS CUI is recorded as C1968556[18].
  • severe neonatal-onset encephalopathy with microcephaly's UMLS CUI is recorded as C4749821[19].
  • severe neonatal-onset encephalopathy with microcephaly's ICD-10-CM is recorded as Q02[20].
  • severe neonatal-onset encephalopathy with microcephaly's Mondo ID is recorded as MONDO_0010397[21].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  17. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] ↑ . UMLS 2023. Retrieved . wikidata.org.
  19. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . 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). 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)

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