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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
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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Microduplication 17p12
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Orphanet_101081 |
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AID deficiency
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Orphanet_101089 |
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Marin-Amat syndrome
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Orphanet_101104 |
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Devriendt-Vandenberghe-Fryns syndrome
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Orphanet_1014 |
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Rare NSID
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Orphanet_101685 |
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Rare dyslipidemia
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Orphanet_101953 |
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Pituitary deficiency
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Orphanet_101957 |
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Congenital neutropenia
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Orphanet_101987 |
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Constitutional neutropenia
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Orphanet_101987 |
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Primary immunodeficiency
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Orphanet_101997 |
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Rare epilepsy
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Orphanet_101998 |
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FHH type 2
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Orphanet_101049 |
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FHH type 3
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Orphanet_101050 |
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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
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Orphanet_101097 |
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Romano-Ward long QT syndrome
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Orphanet_101016 |
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