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
microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia 13321
GP IIb-IIIa Complex, deficiency of 31332
retinitis pigmentosa 58 13328
retinitis pigmentosa 58; RP58 http://purl.obolibrary.org/obo/MONDO_0013328
platelet glycoprotein IIb-IIIa deficiency 31332
glycoprotein Complex IIb-IIIa, deficiency of 31332
glycoprotein IIb/IIIa defect 31332
bleeding disorder, Platelet-type, 2 31332
epilepsy, familial adult myoclonic, 3 13322
lymphedema-posterior choanal atresia syndrome 13324
choanal atresia and lymphedema 13324
choanal atresia and lymphedema; CATLPH http://purl.obolibrary.org/obo/MONDO_0013324
primary hyperoxaluria caused by mutation in HOGA1 13327
Senior-Loken syndrome caused by mutation in SDCCAG8 13326
cranioectodermal dysplasia caused by mutation in WDR35 13323