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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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leber congenital amaurosis 6
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C565327 |
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short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
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32703 |
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renal agenesis, and cleft lip and palate complex congenital heart defect
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C535327 |
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middle ear cancer
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3275 |
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spinocerebellar ataxia, autosomal recessive 27
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32706 |
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inner ear cancer
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3278 |
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internal ear cancer
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3278 |
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eye sebaceous carcinoma
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6327 |
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charcot-marie-tooth disease, axonal, type 2ee
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32728.0 |
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Charcot-Marie-Tooth disease, axonal, type 2EE
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32728 |
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ocular sebaceous carcinoma
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6327 |
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kidney failure, chronic
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24327 |
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hereditary lymphedema caused by mutation in GJC2
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13278 |
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primary hyperoxaluria caused by mutation in HOGA1
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13327 |
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retinitis pigmentosa caused by mutation in TTC8
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13274 |
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