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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 spastic paraplegia type 55
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Orphanet_320375 |
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Autosomal recessive spastic paraplegia type 56
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Orphanet_320411 |
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Autosomal recessive spastic paraplegia type 65
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Orphanet_320396 |
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Dehydrated hereditary stomatocytosis
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Orphanet_3202 |
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Overhydrated hereditary stomatocytosis
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Orphanet_3203 |
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Arthrogryposis-ectodermal dysplasia syndrome
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Orphanet_3200 |
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Neonatal Schwartz-Jampel syndrome
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Orphanet_3206 |
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HSAN due to TECPR2 mutation
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Orphanet_320385 |
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Stüve-Wiedemann syndrome type 1
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Orphanet_3206 |
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Schwartz-Jampel syndrome type 2
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Orphanet_3206 |
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