Details of Disease | DrugMAP

General Information of Disease (ID: DISLZDCE)

Disease Name	Brachydactyly type E2
Synonyms	brachydactyly, type E2; PTHLH brachydactyly type E; brachydactyly type E caused by mutation in PTHLH; brachydactyly type E2; BDE2
Definition	Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
Disease Hierarchy	DISM8YNM: Brachydactyly type E DISLZDCE: Brachydactyly type E2
Disease Identifiers	MONDO ID MONDO_0013244 UMLS CUI C3150644 OMIM ID 613382 MedGen ID 461994

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTHLH	OTI1JF13	Definitive	Autosomal dominant	[1]
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References

1	Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet. 2010 Mar 12;86(3):434-9. doi: 10.1016/j.ajhg.2010.01.023. Epub 2010 Feb 18.