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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
External Links
Disease Ontology
DOID:0110964
Mondo Disease Ontology
MeSH
ORDO
OMIM
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 all 2 entries
Gene ID Gene Symbol Description Source
14563 Gdf5 growth differentiation factor 5
16147 Ihh Indian hedgehog
Displaying 1 entry
Gene ID Gene Symbol Description Source
180349 grd-2 Ground-like domain-containing protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024