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craniofacial-deafness-hand syndrome

MedicalCondition head_and_neck_disease Q55780454
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craniofacial-deafness-hand syndrome

Summary

craniofacial-deafness-hand syndrome is a head and neck disease[1].

Key Facts

  • craniofacial-deafness-hand syndrome's instance of is recorded as head and neck disease[2].
  • craniofacial-deafness-hand syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • craniofacial-deafness-hand syndrome's instance of is recorded as rare disease[4].
  • craniofacial-deafness-hand syndrome's instance of is recorded as class of disease[5].
  • craniofacial-deafness-hand syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome without intellectual disability[6].
  • craniofacial-deafness-hand syndrome's subclass of is recorded as syndromic genetic deafness[7].
  • craniofacial-deafness-hand syndrome's subclass of is recorded as syndrome[8].
  • craniofacial-deafness-hand syndrome's subclass of is recorded as autosomal dominant disease[9].
  • craniofacial-deafness-hand syndrome's MeSH descriptor ID is recorded as C536453[10].
  • craniofacial-deafness-hand syndrome's OMIM ID is recorded as 122880[11].
  • craniofacial-deafness-hand syndrome's KEGG ID is recorded as H00446[12].
  • craniofacial-deafness-hand syndrome's Disease Ontology ID is recorded as DOID:0111336[13].
  • craniofacial-deafness-hand syndrome's Orphanet ID is recorded as 1529[14].
  • craniofacial-deafness-hand syndrome's ICD-9-CM is recorded as 759.89[15].
  • craniofacial-deafness-hand syndrome's genetic association is recorded as PAX3[16].
  • craniofacial-deafness-hand syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1529[17].
  • craniofacial-deafness-hand syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111336[18].
  • craniofacial-deafness-hand syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111336[19].
  • craniofacial-deafness-hand syndrome's UMLS CUI is recorded as C1852510[20].
  • craniofacial-deafness-hand syndrome's ICD-10-CM is recorded as Q87.0[21].
  • craniofacial-deafness-hand syndrome's GARD rare disease ID is recorded as 1571[22].
  • craniofacial-deafness-hand syndrome's Mondo ID is recorded as MONDO_0007395[23].
  • craniofacial-deafness-hand syndrome's UniProt disease ID is recorded as DI-01442[24].

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [17] ↑ . wikidata.org.
  17. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  18. [19] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  19. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [23] ↑ . wikidata.org.
  23. [24] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). craniofacial-deafness-hand syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/craniofacial-deafness-hand-syndrome
MLA “craniofacial-deafness-hand syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/craniofacial-deafness-hand-syndrome.
BibTeX @misc{4ortxyz_craniofacial-deafness-hand-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{craniofacial-deafness-hand syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/craniofacial-deafness-hand-syndrome}, note = {Accessed: 2026-05-03}}
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