brachydactyly type A1C

Summary
Synonym
  • BDA1C
Definition
A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
Super Class
brachydactyly type A1
Disease Ontology
DOID:0110977
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8200 GDF5 growth differentiation factor 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
14563 Gdf5 growth differentiation factor 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P43026 Growth/differentiation factor 5
Displaying 1 entry
UniProt ID Protein Name Source
P43027 Growth/differentiation factor 5

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025