Details of Disease | DrugMAP

General Information of Disease (ID: DISE1QTK)

Disease Name	Boudin-Mortier syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISE1QTK: Boudin-Mortier syndrome
Disease Identifiers	MONDO ID MONDO_0859194 UMLS CUI C5561992 OMIM ID 619543 MedGen ID 1794202

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
NPR3	TTWVLS6	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPR3	OT6MQP3A	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities. Am J Hum Genet. 2018 Aug 2;103(2):288-295. doi: 10.1016/j.ajhg.2018.06.007. Epub 2018 Jul 19.