|
epilepsy, familial adult myoclonic, 3
|
13322 |
|
|
lymphedema-posterior choanal atresia syndrome
|
13324 |
|
|
hereditary clubfoot due to 17q23.1-q23.2 microduplication
|
13329 |
|
|
chromosome 16p12.2-p11.2 deletion syndrome
|
13320 |
|
|
chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB
|
13320 |
|
|
familial clubfoot due to 17q23.1q23.2 microduplication
|
13329 |
|
|
16p11.2-p12.2 microdeletion syndrome
|
13320 |
|
|
WDR35 cranioectodermal dysplasia
|
13323 |
|
|
congenital disorder of glycosylation type 2i
|
13325 |
|
|
congenital disorder of glycosylation type III
|
13325 |
|
|
congenital disorder of glycosylation, type III
|
13325 |
|
|
congenital disorder of glycosylation, type III; CDG2I
|
http://purl.obolibrary.org/obo/MONDO_0013325 |
|
|
deficiency of platelet fibrinogen receptor
|
31332 |
|
|
deficiency of glycoprotein complex IIb-IIIa
|
31332 |
|
|
carbohydrate deficient glycoprotein syndrome type III
|
13325 |
|
