brachydactyly type A1

Summary
Synonym
  • BDA1
  • Farabee type brachydactyly
Definition
A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
Super Class
autosomal dominant disease brachydactyly
Disease Ontology
DOID:0110964
Mondo Disease Ontology
MeSH
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3549 IHH Indian hedgehog signaling molecule
8200 GDF5 growth differentiation factor 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
16147 Ihh Indian hedgehog
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025