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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.
Thanatophoric dwarfism type 2
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Orphanet_93274 |
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Thanatophoric dysplasia type 2
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Orphanet_93274 |
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Preaxial polydactyly type 2
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Orphanet_93336 |
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Spondyloepimetaphyseal dysplasia type 2
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Orphanet_93356 |
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Juvenile sialidosis type 2
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Orphanet_93399 |
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Congenital sialidosis type 2
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Orphanet_93400 |
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Membranoproliferative glomerulonephritis type 2
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Orphanet_93571 |
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Primary hyperoxaluria type 2
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Orphanet_93599 |
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Dent disease type 2
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Orphanet_93623 |
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Laryngo-tracheo-esophageal cleft type 2
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Orphanet_93939 |
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Laryngotracheoesophageal cleft type 2
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Orphanet_93939 |
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Pfeiffer syndrome type 3
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Orphanet_93260 |
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Preaxial polydactyly type 3
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Orphanet_93337 |
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Primary hyperoxaluria type 3
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Orphanet_93600 |
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Bartter syndrome type 3
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Orphanet_93605 |
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