Details of Disease | DrugMAP

General Information of Disease (ID: DISDVCP4)

Disease Name	Brachydactyly type B1
Synonyms	brachydactyly, type B; brachydactyly, type B1; brachydactyly type B caused by mutation in ROR2; ROR2 brachydactyly type B; BDB1
Definition	Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.
Disease Hierarchy	DISOPY31: Brachydactyly type B DISDVCP4: Brachydactyly type B1
Disease Identifiers	MONDO ID MONDO_0007220 MESH ID C566196 UMLS CUI C1862112 OMIM ID 113000 MedGen ID 349432 Orphanet ID 572385

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ROR2	TTUDPCI	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ROR2	OTZ8HZCC	Definitive	Autosomal dominant	[1]
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References

1	Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12.