lethal polymalformative syndrome, Boissel type

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55783947
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lethal polymalformative syndrome, Boissel type

Summary

lethal polymalformative syndrome, Boissel type is a developmental defect during embryogenesis[1].

Key Facts

  • lethal polymalformative syndrome, Boissel type's instance of is recorded as developmental defect during embryogenesis[2].
  • lethal polymalformative syndrome, Boissel type's instance of is recorded as rare disease[3].
  • lethal polymalformative syndrome, Boissel type's instance of is recorded as class of disease[4].
  • lethal polymalformative syndrome, Boissel type's subclass of is recorded as lethal multiple congenital anomalies/dysmorphic syndrome[5].
  • lethal polymalformative syndrome, Boissel type's subclass of is recorded as rare genetic developmental defect during embryogenesis[6].
  • lethal polymalformative syndrome, Boissel type's OMIM ID is recorded as 612938[7].
  • lethal polymalformative syndrome, Boissel type's KEGG ID is recorded as H00926[8].
  • lethal polymalformative syndrome, Boissel type's Orphanet ID is recorded as 210144[9].
  • lethal polymalformative syndrome, Boissel type's genetic association is recorded as FTO[10].
  • lethal polymalformative syndrome, Boissel type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_210144[11].
  • lethal polymalformative syndrome, Boissel type's UMLS CUI is recorded as C2752001[12].
  • lethal polymalformative syndrome, Boissel type's UMLS CUI is recorded as C4755275[13].
  • lethal polymalformative syndrome, Boissel type's ICD-10-CM is recorded as Q87.8[14].
  • lethal polymalformative syndrome, Boissel type's Mondo ID is recorded as MONDO_0013050[15].
  • lethal polymalformative syndrome, Boissel type's UniProt disease ID is recorded as DI-02561[16].

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] . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] . UMLS 2023. Retrieved . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). lethal polymalformative syndrome, Boissel type. Retrieved May 3, 2026, from https://4ort.xyz/entity/lethal-polymalformative-syndrome-boissel-type
MLA “lethal polymalformative syndrome, Boissel type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/lethal-polymalformative-syndrome-boissel-type.
BibTeX @misc{4ortxyz_lethal-polymalformative-syndrome-boissel-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{lethal polymalformative syndrome, Boissel type}}, year = {2026}, url = {https://4ort.xyz/entity/lethal-polymalformative-syndrome-boissel-type}, note = {Accessed: 2026-05-03}}
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