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| created at |
2024-09-23 16:23:50 UTC |
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2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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PIGT-CDG
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Orphanet_369837 |
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MCAHS type 3
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Orphanet_369837 |
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Multiple congenital anomalies-hypotonia-seizures syndrome type 3
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Orphanet_369837 |
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Congenital disorder of glycosylation due to PIGT deficiency
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Orphanet_369837 |
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