brachydactyly type A1

brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes
MedicalCondition rare_disease Q32145348
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brachydactyly type A1

Summary

brachydactyly type A1 is a rare disease[1].

Key Facts

  • brachydactyly type A1's instance of is recorded as rare disease[2].
  • brachydactyly type A1's instance of is recorded as class of disease[3].
  • brachydactyly type A1's subclass of is recorded as brachydactyly[4].
  • brachydactyly type A1's subclass of is recorded as autosomal dominant disease[5].
  • brachydactyly type A1's OMIM ID is recorded as 112500[6].
  • brachydactyly type A1's Disease Ontology ID is recorded as DOID:0110964[7].
  • brachydactyly type A1's Orphanet ID is recorded as 93388[8].
  • brachydactyly type A1's genetic association is recorded as IHH[9].
  • brachydactyly type A1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110964[10].
  • brachydactyly type A1's exact match is recorded as http://identifiers.org/doid/DOID:0110964[11].
  • brachydactyly type A1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93388[12].
  • brachydactyly type A1's GARD rare disease ID is recorded as 978[13].
  • brachydactyly type A1's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
  • brachydactyly type A1's Mondo ID is recorded as MONDO_0007215[15].
  • brachydactyly type A1's UniProt disease ID is recorded as DI-00194[16].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . Disease Ontology. Retrieved . wikidata.org.
  4. [5] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . Disease Ontology. Retrieved . wikidata.org.
  13. [14] . 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). brachydactyly type A1. Retrieved May 3, 2026, from https://4ort.xyz/entity/brachydactyly-type-a1
MLA “brachydactyly type A1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/brachydactyly-type-a1.
BibTeX @misc{4ortxyz_brachydactyly-type-a1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{brachydactyly type A1}}, year = {2026}, url = {https://4ort.xyz/entity/brachydactyly-type-a1}, note = {Accessed: 2026-05-03}}
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