Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02654 | Boudin-Mortier syndrome | ... tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported that mutations in NPR3 cause this disease. NPR3 encodes the atrial natriuretic peptide clearance receptor. | Congenital malformation | NPR3 [HSA:4883] [KO:K12325] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |