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brachydactyly type B1

brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22
Class type of: brachydactyly Q32145418

Facts

7 properties
Instance of
rare disease, class of disease[3]
Subclass of
brachydactyly
Age of onset
congenital onset[6]
Genetic association
ROR2[5]
On focus list of Wikimedia project
WikiProject Medicine[7]
P14914
D572385[8]
Prevalence
+0.000001[4]
🏷️ Also known as
en BDB1 en Brachydactyly, Type B en brachydactyly type B1 en BRACHYDACTYLY, TYPE B1 en BRACHYDACTYLY, TYPE B1; BDB1 fr brachydactylie de type B fr brachydactylie type B1
🔖 Identifiers · 8
Disease Ontology ID
DOID:0110969
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
GARD rare disease ID
985
Mondo ID
MONDO_0007220
OMIM ID
113000
Orphanet ID
572385
UMLS CUI
C1862112
UniProt disease ID
DI-00196

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Summary

brachydactyly type B1 is a rare disease[1]. It is a type of brachydactyly[2].

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Retrieved . wikidata.org.
  4. [5] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  5. [6] ↑ . Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . 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 B1. Retrieved October 24, 2026, from https://4ort.xyz/entity/brachydactyly-type-b1
MLA “brachydactyly type B1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/brachydactyly-type-b1.
BibTeX @misc{4ortxyz_brachydactyly-type-b1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{brachydactyly type B1}}, year = {2026}, url = {https://4ort.xyz/entity/brachydactyly-type-b1}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): brachydactyly type B1 — https://4ort.xyz/entity/brachydactyly-type-b1 (retrieved 2026-10-24)

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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. 12d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    UniProt disease ID → DI-00196
    Mondo ID → MONDO_0007220
    Instance of → rare disease, class of disease
    UMLS CUI → C1862112
    + 14 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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