manager |
|
language |
- |
license |
- |
created at |
2021-12-22 03:08:20 UTC |
updated at |
2021-12-22 07:06:09 UTC |
|
MONDO_bioport_pref_name
|
183,974 entries
|
There is 0 pattern entry.
retinitis pigmentosa caused by mutation in ZNF513
|
13328 |
|
glycoprotein IIb/IIIa defect
|
31332 |
|
deficiency of glycoprotein complex IIb-IIIa
|
31332 |
|
WDR35 cranioectodermal dysplasia
|
13323 |
|
hereditary clubfoot due to 17q23.1-q23.2 microduplication
|
13329 |
|
familial clubfoot due to 17q23.1q23.2 microduplication
|
13329 |
|
chromosome 16p12.2-p11.2 deletion syndrome
|
13320 |
|
chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB
|
13320 |
|
platelet-type bleeding disorder 2
|
31332 |
|
carbohydrate deficient glycoprotein syndrome type III
|
13325 |
|
congenital disorder of glycosylation type 2i
|
13325 |
|
HOGA1 primary hyperoxaluria
|
13327 |
|
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 |
|