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Standards Ontologies Notations
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
Disease Ontology
DOID:0110969
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4920 ROR2 receptor tyrosine kinase like orphan receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
26564 Ror2 receptor tyrosine kinase-like orphan receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
34367 Ror Ror
Displaying 1 entry
Gene ID Gene Symbol Description Source
174473 cam-1 Tyrosine-protein kinase receptor cam-1
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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: December 9, 2024