brachydactyly type B1

Summary
Synonym
  • BDB1
Definition
A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.
Super Class
brachydactyly
External Links
Disease Ontology
DOID:0110969
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P09874 Poly [ADP-ribose] polymerase 1

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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 19, 2024