brachydactyly-syndactyly syndrome

Summary
Definition
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0050689
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
154141 MBOAT1 membrane bound O-acyltransferase domain containing 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