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
chromosome 14q11-q22 deletion syndrome 13272
goniodysgenesis intellectual disability short stature 23272
intellectual developmental disorder, autosomal recessive 70 32729
epileptic encephalopathy, early infantile, 74 32725
developmental and epileptic encephalopathy, 74 32725
spondyloepiphyseal dysplasia, kondo-fu type 32721
combined oxidative phosphorylation deficiency 39 32726
goniodysgenesis mental retardation short stature 23272.0
mixed epithelial stromal tumor 3272
mixed epithelial stromal tumour 3272
14q11.2 microdeletion syndrome 13272
spondyloepimetaphyseal dysplasia with joint laxity, type 3 32724