congenital bile acid synthesis defect type 5
|
14564 |
|
Coats plus syndrome caused by mutation in CTC1
|
24564 |
|
cerebroretinal microangiopathy with calcifications and cysts 1
|
24564 |
|
cerebroretinal microangiopathy with calcifications and cysts 1; CRMCC1
|
http://purl.obolibrary.org/obo/MONDO_0024564 |
|
bile acid synthesis defect, congenital, 5
|
14564 |
|
bile acid synthesis defect, congenital, 5; CBAS5
|
http://purl.obolibrary.org/obo/MONDO_0014564 |
|
bile acid synthesis defect, congenital, type 5
|
14564 |
|
thyroid gland malformation
|
4564 |
|