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
Glanzmann thrombasthenia 1 31332
cranioectodermal dysplasia 2 13323
CRANIOECTODERMAL dysplasia 2; CED2 http://purl.obolibrary.org/obo/MONDO_0013323
Diacyclothrombopathia 2B 3A 31332
SENIOR-Loken syndrome 7 13326
Senior-Loken syndrome 7 13326
SENIOR-Loken syndrome 7; SLSN7 http://purl.obolibrary.org/obo/MONDO_0013326
Platelet glycoprotein 2B 3A deficiency 31332
FORSYTHE-WAKELING syndrome; FWS http://purl.obolibrary.org/obo/MONDO_0013321
epilepsy, familial ADULT myoclonic, 3 13322
epilepsy, familial ADULT myoclonic, 3; FAME3 http://purl.obolibrary.org/obo/MONDO_0013322
GP IIb-IIIa Complex, deficiency of 31332
chromosome 17q23.1-q23.2 DUPLICATION syndrome 13329
retinitis pigmentosa 58 13328
retinitis pigmentosa 58; RP58 http://purl.obolibrary.org/obo/MONDO_0013328