Home › Entities › rare_disease › pseudo-TORCH syndrome

pseudo-TORCH syndrome

autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria
MedicalCondition rare_disease Q9390596
Press Enter · cited answer in seconds

pseudo-TORCH syndrome

Summary

pseudo-TORCH syndrome is a rare disease[1].

Key Facts

  • pseudo-TORCH syndrome's instance of is recorded as rare disease[2].
  • pseudo-TORCH syndrome's instance of is recorded as class of disease[3].
  • pseudo-TORCH syndrome's subclass of is recorded as autosomal recessive disease[4].
  • pseudo-TORCH syndrome's subclass of is recorded as genetic nervous system disorder[5].
  • pseudo-TORCH syndrome's subclass of is recorded as syndrome[6].
  • pseudo-TORCH syndrome's OMIM ID is recorded as 251290[7].
  • pseudo-TORCH syndrome's KEGG ID is recorded as H00840[8].
  • pseudo-TORCH syndrome's Disease Ontology ID is recorded as DOID:0050656[9].
  • pseudo-TORCH syndrome's Orphanet ID is recorded as 1229[10].
  • pseudo-TORCH syndrome's genetic association is recorded as OCLN[11].
  • pseudo-TORCH syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050656[12].
  • pseudo-TORCH syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050656[13].
  • pseudo-TORCH syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1229[14].
  • pseudo-TORCH syndrome's UMLS CUI is recorded as C3489725[15].
  • pseudo-TORCH syndrome's UMLS CUI is recorded as C2931662[16].
  • pseudo-TORCH syndrome's ICD-10-CM is recorded as Q87.8[17].
  • pseudo-TORCH syndrome's GARD rare disease ID is recorded as 12426[18].
  • pseudo-TORCH syndrome's GARD rare disease ID is recorded as 815[19].
  • pseudo-TORCH syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
  • pseudo-TORCH syndrome's Mondo ID is recorded as MONDO_0009626[21].
  • pseudo-TORCH syndrome's ICD-11 ID is recorded as 780151108[22].
  • pseudo-TORCH syndrome's UniProt disease ID is recorded as DI-02925[23].

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] ↑ . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.
  22. [23] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . 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). pseudo-TORCH syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/pseudo-torch-syndrome
MLA “pseudo-TORCH syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pseudo-torch-syndrome.
BibTeX @misc{4ortxyz_pseudo-torch-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pseudo-TORCH syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/pseudo-torch-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pseudo-TORCH syndrome — https://4ort.xyz/entity/pseudo-torch-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/pseudo-torch-syndrome · Last refreshed: