Singleton Merten syndrome

medical condition
MedicalCondition developmental_defect_during_embryogenesis Q17125786
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Singleton Merten syndrome

Summary

Singleton Merten syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • Singleton Merten syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • Singleton Merten syndrome's instance of is recorded as rare disease[3].
  • Singleton Merten syndrome's instance of is recorded as class of disease[4].
  • Singleton Merten syndrome is a type of primary bone dysplasia with decreased bone density[5].
  • Singleton Merten syndrome is a type of type 1 interferonopathy[6].
  • Singleton Merten syndrome is a type of immune dysregulation disease with immunodeficiency[7].
  • Singleton Merten syndrome's ICD-9-CM is recorded as 733.29[8].
  • Singleton Merten syndrome's genetic association is recorded as IFIH1[9].
  • Singleton Merten syndrome's genetic association is recorded as DDX58[10].
  • Singleton Merten syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_85191[11].

References

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

Direct Wikidata claims

  1. [2] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] . Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.. wikidata.org.
  10. [11] . 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). Singleton Merten syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/singleton-merten-syndrome
MLA “Singleton Merten syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/singleton-merten-syndrome.
BibTeX @misc{4ortxyz_singleton-merten-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Singleton Merten syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/singleton-merten-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Singleton Merten syndrome — https://4ort.xyz/entity/singleton-merten-syndrome (retrieved 2026-05-03)

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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.

  1. 7w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0008429
    Genetic association IFIH1, DDX58
    Gard rare disease id 122
    Orphanet id 85191
    + 11 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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