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| created at |
2021-12-22 03:08:20 UTC |
| updated at |
2021-12-22 07:06:09 UTC |
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MONDO_bioport_pref_name
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183,974 entries
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There is 0 pattern entry.
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autosomal recessive congenital cataract 2
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12395 |
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TUBB2B complex cortical dysplasia with other brain malformations
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12399 |
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2-methylbutyryl-CoA dehydrogenase deficiency
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12392 |
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butyryl-CoA dehydrogenase deficiency
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12392 |
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congenital glutamine deficiency
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12393 |
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inherited GS deficiency
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12393 |
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glutamine synthase deficiency, congenital systemic
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12393 |
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glutamine synthetase deficiency, congenital systemic
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12393 |
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short/branched-chain acyl-Coa dehydrogenase deficiency
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12392 |
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short/branched-chain acyl-coA dehydrogenase deficiency
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12392 |
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epilepsy mental deterioration Finnish type
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12391 |
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progressive epilepsy-intellectual disability syndrome, Finnish type
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12391 |
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developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
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12392 |
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congenital brain dysgenesis due to glutamine synthetase deficiency
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12393 |
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complex cortical dysplasia with other brain malformations 7
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12399 |
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