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
brachydactyly, coloboma, and anterior segment dysgenesis 12397
cataract 18 autosomal recessive 12395
epilepsy mental deterioration Finnish type 12391
2-methylbutyryl-CoA dehydrogenase deficiency 12392
butyryl-CoA dehydrogenase deficiency 12392
congenital glutamine deficiency 12393
inherited GS deficiency 12393
glutamine synthase deficiency, congenital systemic 12393
glutamine synthetase deficiency, congenital systemic 12393
congenital brain dysgenesis due to glutamine synthetase deficiency 12393
short/branched-chain acyl-Coa dehydrogenase deficiency 12392
short/branched-chain acyl-coA dehydrogenase deficiency 12392
progressive epilepsy-intellectual disability syndrome, Finnish type 12391
complex cortical dysplasia with other brain malformations 7 12399
developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency 12392