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autosomal dominant deafness-onychodystrophy syndrome

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges
MedicalCondition head_and_neck_disease Q55780470
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autosomal dominant deafness-onychodystrophy syndrome

Summary

autosomal dominant deafness-onychodystrophy syndrome is a head and neck disease[1].

Key Facts

  • autosomal dominant deafness-onychodystrophy syndrome's instance of is recorded as head and neck disease[2].
  • autosomal dominant deafness-onychodystrophy syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • autosomal dominant deafness-onychodystrophy syndrome's instance of is recorded as rare disease[4].
  • autosomal dominant deafness-onychodystrophy syndrome's instance of is recorded as class of disease[5].
  • autosomal dominant deafness-onychodystrophy syndrome's subclass of is recorded as deafness-onychodystrophy syndrome[6].
  • autosomal dominant deafness-onychodystrophy syndrome's subclass of is recorded as autosomal dominant disease[7].
  • autosomal dominant deafness-onychodystrophy syndrome's subclass of is recorded as syndrome[8].
  • autosomal dominant deafness-onychodystrophy syndrome's OMIM ID is recorded as 124480[9].
  • autosomal dominant deafness-onychodystrophy syndrome's KEGG ID is recorded as H02219[10].
  • autosomal dominant deafness-onychodystrophy syndrome's Disease Ontology ID is recorded as DOID:0080720[11].
  • autosomal dominant deafness-onychodystrophy syndrome's Orphanet ID is recorded as 79499[12].
  • autosomal dominant deafness-onychodystrophy syndrome's NCI Thesaurus ID is recorded as C175240[13].
  • autosomal dominant deafness-onychodystrophy syndrome's genetic association is recorded as ATP6V1B2[14].
  • autosomal dominant deafness-onychodystrophy syndrome's Google Knowledge Graph ID is recorded as /g/11gy24w8mp[15].
  • autosomal dominant deafness-onychodystrophy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79499[16].
  • autosomal dominant deafness-onychodystrophy syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080720[17].
  • autosomal dominant deafness-onychodystrophy syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0080720[18].
  • autosomal dominant deafness-onychodystrophy syndrome's UMLS CUI is recorded as C2675730[19].
  • autosomal dominant deafness-onychodystrophy syndrome's UMLS CUI is recorded as C2931049[20].
  • autosomal dominant deafness-onychodystrophy syndrome's ICD-10-CM is recorded as Q87.8[21].
  • autosomal dominant deafness-onychodystrophy syndrome's GARD rare disease ID is recorded as 4732[22].
  • autosomal dominant deafness-onychodystrophy syndrome's Mondo ID is recorded as MONDO_0007420[23].
  • autosomal dominant deafness-onychodystrophy syndrome's ICD-11 ID is recorded as 1712445563[24].
  • autosomal dominant deafness-onychodystrophy syndrome's UniProt disease ID is recorded as DI-04735[25].

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] ↑ . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. 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] ↑ . Q905695. Retrieved . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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.
  24. [25] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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BibTeX @misc{4ortxyz_autosomal-dominant-deafness-onychodystrophy-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant deafness-onychodystrophy syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-deafness-onychodystrophy-syndrome}, note = {Accessed: 2026-05-03}}
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