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
autosomal dominant macrothrombocytopenia TUBB1-related 13141
autosomal dominant macrothrombocytopenia caused by mutation in TUBB1 13141
primary laryngeal lymphangioma 15314
x-linked 19 mental retardation C563141
x-linked 20 mental retardation C563142
x-linked 23 mental retardation C563144
x-linked 30 mental retardation C563146
x-linked 31 mental retardation C563147
x-linked 34 mental retardation C563148
familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A 13140
1 emery-dreifuss muscular dystrophy D000083143
trisomy 21, mitotic nondisjunction D004314
emery-dreifuss, x-linked muscular dystrophy D000083143
x-linked emery-dreifuss muscular dystrophy D000083143
autosomal emery-dreifuss muscular dystrophy D000083144