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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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AR-CMT2T
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Orphanet_495274 |
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CMT2T
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Orphanet_495274 |
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Del(9)(q33.3q34.11)
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Orphanet_495818 |
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9q33.3q34.11 microdeletion syndrome
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Orphanet_495818 |
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Congenital scrotal agenesis
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Orphanet_495879 |
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Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
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Orphanet_495274 |
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Acquired purpura fulminans
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Orphanet_49566 |
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Keratosis extremitatum hereditaria progrediens
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Orphanet_495 |
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Greither disease
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Orphanet_495 |
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Deletion 9q33.3q34.11
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Orphanet_495818 |
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Monosomy 9q33.3q34.11
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Orphanet_495818 |
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Hypomyelinating leukodystrophy due to hikeshi deficiency
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Orphanet_495844 |
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Transgrediens et progrediens PPK
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Orphanet_495 |
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Transgrediens et progrediens palmoplantar keratoderma
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Orphanet_495 |
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Familial monosomy 7 syndrome
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Orphanet_495930 |
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