MONDO_merge Find_IDs Find_Terms Annotation
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
Label
Id
NEXN familial isolated dilated cardiomyopathy 13147
macrothrombocytopenia, autosomal dominant, TUBB1-related 13141
hereditary thrombophilia due to congenital HRG deficiency 13143
hereditary thrombophilia due to congenital antithrombin 3 deficiency 13144
hereditary thrombophilia due to congenital antithrombin deficiency 13144
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 13143
familial isolated dilated cardiomyopathy caused by mutation in NEXN 13147
TUBB1 autosomal dominant macrothrombocytopenia 13141
calcium pyrophosphate deposition disease 1314
atrial fibrillation, familial, 16 13146
autosomal dominant macrothrombocytopenia TUBB1-related 13141
autosomal dominant macrothrombocytopenia caused by mutation in TUBB1 13141
familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A 13140
candidiasis, familial, type 4 13140
hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 13149