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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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Rare parathyroid disease and phosphocalcic metabolism anomaly
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Orphanet_68415 |
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EBV-induced lymphoproliferative disease due to CD137 deficiency
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Orphanet_664726 |
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EBV-induced lymphoproliferative disease due to PRKCD deficiency
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Orphanet_664711 |
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EBV-induced lymphoproliferative disease due to TET2 deficiency
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Orphanet_664729 |
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Recessive KLHL7-related disorder
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Orphanet_603699 |
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NCKAP1L-associated hyperinflammatory disorder
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Orphanet_619953 |
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H1-4-related neurodevelopmental disorder
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Orphanet_642763 |
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DHX30-related neurodevelopmental disorder
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Orphanet_647788 |
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CHD4-related neurodevelopmental disorder
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Orphanet_653712 |
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HNRNPR-related neurodevelopmental disorder
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Orphanet_662189 |
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HNRPH1-related neurodevelopmental disorder
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Orphanet_662207 |
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SPEN-related neurodevelopmental disorder
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Orphanet_662234 |
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SLC4A10-related neurodevelopmental disorder
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Orphanet_664430 |
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Proteoglycan-related bone disorder
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Orphanet_674499 |
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Rare sleep disorder
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Orphanet_68354 |
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