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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.
multiple synostoses syndrome caused by mutation in GDF5
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12394 |
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multiple synostoses syndrome type 2
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12394 |
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tumor of the urethra
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21239 |
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neoplasm of urethra
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21239 |
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tumor of urethra
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21239 |
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arthrogryposis multiplex with deafness, inguinal hernias, and early death
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12390 |
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hyperinsulinism due to SLC16A1 deficiency
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12396 |
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polymicrogyria due to TUBB2B mutation
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12399 |
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hyperinsulinism due to monocarboxylate transporter 1 deficiency
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12396 |
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northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
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12391 |
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epilepsy, progressive, with intellectual disability
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12391 |
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progressive epilepsy with intellectual disability, northern epilepsy
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12391 |
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epilepsy, progressive, with mental retardation
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12391 |
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progressive epilepsy with mental retardation, northern epilepsy
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12391 |
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macrophthalmia, colobomatous, with microcornea
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11239 |
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