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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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Auriculoosteodysplasia
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Orphanet_114 |
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SMAX2
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Orphanet_1145 |
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Digitotalar dysmorphism
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Orphanet_1146 |
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Sheldon-Hall syndrome
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Orphanet_1147 |
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Arthrogryposis-like syndrome
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Orphanet_1149 |
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Kuskokwim disease
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Orphanet_1149 |
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Kuskokwim syndrome
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Orphanet_1149 |
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Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
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Orphanet_1144 |
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X-linked distal arthrogryposis multiplex congenita
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Orphanet_1145 |
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Spinal muscular atrophy with arthrogryposis
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Orphanet_1145 |
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Neurogenic arthrogryposis multiplex congenita
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Orphanet_1143 |
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X-linked spinal muscular atrophy type 2
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Orphanet_1145 |
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Infantile-onset X-linked spinal muscular atrophy
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Orphanet_1145 |
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Distal arthrogryposis type 1
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Orphanet_1146 |
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Distal arthrogryposis type 2B
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Orphanet_1147 |
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