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
butyryl-CoA dehydrogenase deficiency 12392
congenital glutamine deficiency 12393
inherited GS deficiency 12393
short branched-chain acyl-CoA dehydrogenase deficiency 12392
cataract (disease) caused by mutation in FYCO1 12395
glutamine deficiency, congenital 12393
autosomal recessive congenital cataract 2 12395
glutamine synthetase deficiency, congenital systemic 12393
short/branched-chain acyl-Coa dehydrogenase deficiency 12392
epilepsy mental deterioration Finnish type 12391
progressive epilepsy-intellectual disability syndrome, Finnish type 12391
short/branched-chain acyl-coA dehydrogenase deficiency 12392
congenital brain dysgenesis due to glutamine synthetase deficiency 12393
developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency 12392
complex cortical dysplasia with other brain malformations 7 12399