brachydactyly type A1C

brachydactyly type A1 has material basis in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11
MedicalCondition rare_disease Q32145536
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brachydactyly type A1C

Summary

brachydactyly type A1C is a rare disease[1].

Key Facts

  • brachydactyly type A1C's instance of is recorded as rare disease[2].
  • brachydactyly type A1C's instance of is recorded as class of disease[3].
  • brachydactyly type A1C's subclass of is recorded as brachydactyly type A1[4].
  • brachydactyly type A1C's OMIM ID is recorded as 615072[5].
  • brachydactyly type A1C's OMIM ID is recorded as 615072[6].
  • brachydactyly type A1C's Disease Ontology ID is recorded as DOID:0110977[7].
  • brachydactyly type A1C's genetic association is recorded as GDF5[8].
  • brachydactyly type A1C's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110977[9].
  • brachydactyly type A1C's exact match is recorded as http://identifiers.org/doid/DOID:0110977[10].
  • brachydactyly type A1C's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93388[11].
  • brachydactyly type A1C's UMLS CUI is recorded as C3554446[12].
  • brachydactyly type A1C's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
  • brachydactyly type A1C's Mondo ID is recorded as MONDO_0014032[14].
  • brachydactyly type A1C's UniProt disease ID is recorded as DI-03654[15].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Q905695. Retrieved . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . wikidata.org.

Class ancestry

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

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Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). brachydactyly type A1C. Retrieved May 3, 2026, from https://4ort.xyz/entity/brachydactyly-type-a1c
MLA “brachydactyly type A1C.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/brachydactyly-type-a1c.
BibTeX @misc{4ortxyz_brachydactyly-type-a1c_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{brachydactyly type A1C}}, year = {2026}, url = {https://4ort.xyz/entity/brachydactyly-type-a1c}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): brachydactyly type A1C — https://4ort.xyz/entity/brachydactyly-type-a1c (retrieved 2026-05-03)

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