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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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blepharophimosis and mental retardation syndrome, say-barber-biesecker-young-simpson type
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C536717 |
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x chromosome, monosomy xq28
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C536755 |
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trisomy 22 mosaic
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C536796 |
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trisomy 22 mosaicism syndrome
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C536796 |
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variant form mucolipidosis III
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C565367 |
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charlevoix-saguenay type spastic ataxia
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C536787 |
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woods black norbury syndrome
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C536743 |
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short stature, obesity and hypogonadism Sex-linked mental retardation
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C536715 |
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uniparental disomy of 21
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C536794 |
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uniparental disomy of 22
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C536796 |
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plasma-membrane, deficiency of carnitine transporter
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C536778 |
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spastic ataxia of charlevoix-saguenay
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C536787 |
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uniparental disomy of chromosome 21
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C536794 |
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SBBYS variant of ohdo syndrome
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C536717 |
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say-barber-biesecker-young-simpson variant of ohdo syndrome
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C536717 |
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