brachydactyly type A1D

Summary
Synonym
  • BDA1D
Definition
A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.
Super Class
brachydactyly type A1
Disease Ontology
DOID:0110978
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
658 BMPR1B bone morphogenetic protein receptor type 1B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O00238 Bone morphogenetic protein receptor type-1B

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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: April 7, 2025