brachydactyly type B2

Summary
Synonym
  • BDB2
Definition
A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
Super Class
brachydactyly
Disease Ontology
DOID:0110975
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9241 NOG noggin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13253 Noggin

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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: August 4, 2025