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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.
Acquired angioedema type 2
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Orphanet_100055 |
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Amelogenesis imperfecta type 3
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Orphanet_100032 |
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Hereditary angioedema type 3
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Orphanet_100054 |
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Amelogenesis imperfecta type 4
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Orphanet_100034 |
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Autosomal dominant uncomplicated HSP
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Orphanet_100980 |
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Autosomal recessive uncomplicated HSP
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Orphanet_100982 |
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Autosomal dominant uncomplicated SPG
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Orphanet_100980 |
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Autosomal recessive uncomplicated SPG
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Orphanet_100982 |
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Autosomal dominant uncomplicated spastic paraplegia
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Orphanet_100980 |
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Autosomal recessive uncomplicated spastic paraplegia
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Orphanet_100982 |
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Refractory anemia with excess blasts type 1
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Orphanet_100019 |
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Refractory anemia with excess blasts type 2
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Orphanet_100020 |
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Myelodysplastic neoplasm with increased blasts type 1
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Orphanet_100019 |
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Myelodysplastic neoplasm with increased blasts type 2
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Orphanet_100020 |
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Ocular albinism with late-onset sensorineural deafness
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Orphanet_1000 |
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