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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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microcephaly, short stature, and impaired glucose metabolism type 2
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14785 |
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IgA nephropathy, susceptibility to, 3
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14786.0 |
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steroid-responsive nephrotic syndrome
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44781 |
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steroid-sensitive nephrotic syndrome
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44781 |
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DOCK8 immunodeficiency syndrome
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9478 |
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urioste martinez-frias syndrome
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C536478 |
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gorlin goltz syndrome
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D001478 |
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hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY
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14780 |
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duodenal compression syndrome, mesenteric
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D013478 |
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variant b1 tay-sachs disease
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C564785 |
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Pseudo-AB variant tay-sachs disease
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C564786 |
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dwarfism, cortical thickening of tubular bones and transient hypocalcemia
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7478 |
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dwarfism, cortical thickening of tubular bones, and transient hypocalcemia
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7478 |
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Cid due to DOCK8 deficiency
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9478 |
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FPLD due to PLIN1 mutations
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13478 |
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