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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09874 | Poly [ADP-ribose] polymerase 1 |
