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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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Autosomal recessive MSMD due to partial JAK1 deficiency
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Orphanet_574957 |
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Poorly-differentiated pancreatic NEN
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Orphanet_506098 |
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Functioning well-differentiated NEN of pancreas
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Orphanet_506060 |
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Non-functioning well-differentiated NEN of pancreas
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Orphanet_506075 |
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KRT1-related diffuse NEPPK
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Orphanet_530838 |
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Functioning pancreatic NET
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Orphanet_506060 |
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Non-functioning pancreatic NET
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Orphanet_506075 |
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Ocular albinism, Nettleship-Falls type
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Orphanet_54 |
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Cerebrorenal syndrome, Perez type
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Orphanet_505242 |
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Familial short QT syndrome
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Orphanet_51083 |
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LGMD type R23
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Orphanet_565837 |
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LGMD type R24
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Orphanet_565899 |
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POMGNT2-related LGMD R24
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Orphanet_565899 |
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Acquired factor V deficiency
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Orphanet_599490 |
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Mucopolysaccharidosis type VI
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Orphanet_583 |
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