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brachydactyly type E1

brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31
Class type of: brachydactyly, brachydactyly type E, developmental defect during embryogenesis Q32145461

Facts

4 properties
Instance of
rare disease, class of disease[5]
Subclass of
brachydactyly, brachydactyly type E, developmental defect during embryogenesis
Genetic association
HOXD13[6]
On focus list of Wikimedia project
WikiProject Medicine[7]
🏷️ Also known as
en BDE1 en Brachydactyly, Type E en brachydactyly type E1 en BRACHYDACTYLY, TYPE E1 en BRACHYDACTYLY, TYPE E1; BDE1
🔖 Identifiers · 7
Disease Ontology ID
DOID:0110972
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
GARD rare disease ID
987
Mondo ID
MONDO_0007223
OMIM ID
113300
UMLS CUI
C1862102
UniProt disease ID
DI-00199

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Summary

brachydactyly type E1 is a rare disease[1]. It is a type of brachydactyly[2], brachydactyly type E[3], and developmental defect during embryogenesis[4].

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . wikidata.org.
  4. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . UniProt. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

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 E1. Retrieved October 30, 2026, from https://4ort.xyz/entity/brachydactyly-type-e1
MLA “brachydactyly type E1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 30 Oct. 2026, https://4ort.xyz/entity/brachydactyly-type-e1.
BibTeX @misc{4ortxyz_brachydactyly-type-e1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{brachydactyly type E1}}, year = {2026}, url = {https://4ort.xyz/entity/brachydactyly-type-e1}, note = {Accessed: 2026-10-30}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): brachydactyly type E1 — https://4ort.xyz/entity/brachydactyly-type-e1 (retrieved 2026-10-30)

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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. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo ID → MONDO_0007223
    Genetic association → HOXD13
    GARD rare disease ID → 987
    Instance of → rare disease, class of disease
    + 9 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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