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 is a type of deafness-onychodystrophy syndrome[6].
  • autosomal dominant deafness-onychodystrophy syndrome is a type of autosomal dominant disease[7].
  • autosomal dominant deafness-onychodystrophy syndrome is a type of syndrome[8].
  • autosomal dominant deafness-onychodystrophy syndrome's NCI Thesaurus ID is recorded as C175240[9].
  • autosomal dominant deafness-onychodystrophy syndrome's genetic association is recorded as ATP6V1B2[10].
  • autosomal dominant deafness-onychodystrophy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79499[11].
  • autosomal dominant deafness-onychodystrophy syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080720[12].
  • autosomal dominant deafness-onychodystrophy syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0080720[13].

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] . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

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

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APA 4ort.xyz Knowledge Graph. (2026). autosomal dominant deafness-onychodystrophy syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-deafness-onychodystrophy-syndrome
MLA “autosomal dominant deafness-onychodystrophy syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-deafness-onychodystrophy-syndrome.
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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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. 20h ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0007420
    Orphanet id 79499
    Imported from
    Omim id 124480
    + 14 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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