MONDO_merge Find_IDs Find_Terms Annotation
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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
Label
Id
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