Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
brachydactyly type A2

Summary
Synonym
  • BDA2
  • Mohr-Wriedt type brachydactyly
  • brachymesophalangy II
Definition
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
Super Class
autosomal dominant disease brachydactyly
External Links
Disease Ontology
DOID:0110965
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
650 BMP2 bone morphogenetic protein 2
658 BMPR1B bone morphogenetic protein receptor type 1B
1022 CDK7 cyclin dependent kinase 7
8200 GDF5 growth differentiation factor 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12156 Bmp2 bone morphogenetic protein 2
14563 Gdf5 growth differentiation factor 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
29373 Bmp2 bone morphogenetic protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
33432 dpp decapentaplegic
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
397873 bmp2.L bone morphogenetic protein 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
174044 sma-6 Serine/threonine-protein kinase receptor sma-6
179068 dbl-1 Protein dbl-1
About Release Notes Help Feedback
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 v4.0.0

Last updated: August 19, 2024