|
congenital disorder of glycosylation, type III; CDG2I
|
http://purl.obolibrary.org/obo/MONDO_0013325 |
|
|
deficiency of platelet fibrinogen receptor
|
31332 |
|
|
Cranioectodermal dysplasia type 2
|
13323 |
|
|
Platelet fibrinogen receptor, deficiency of
|
31332 |
|
|
16p11.2-p12.2 microdeletion syndrome
|
13320 |
|
|
16p11.2p12.2 microdeletion syndrome
|
13320 |
|
|
SDCCAG8 Senior-Loken syndrome
|
13326 |
|
|
cortical myoclonic tremor with epilepsy, familial, 3
|
13322 |
|
|
hyperoxaluria, primary, type 3
|
13327 |
|
|
primary hyperoxaluria type 3
|
13327 |
|
|
Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
|
11332 |
|
|
retinitis pigmentosa type 58
|
13328 |
|
|
Senior-Loken syndrome type 7
|
13326 |
|
|
Glanzmann thrombasthenia type A
|
31332 |
|
