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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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Isolated focal cortical dysplasia
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Orphanet_65683 |
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AD CID due to partial GP130 deficiency
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Orphanet_656313 |
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AD CID due to partial IL6ST deficiency
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Orphanet_656313 |
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AR CID due to IL6R deficiency
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Orphanet_656326 |
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AR CID due to complete GP130 deficiency
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Orphanet_656283 |
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AR CID due to complete IL6ST deficiency
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Orphanet_656283 |
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AR CID due to partial GP130 deficiency
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Orphanet_656300 |
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AR CID due to partial IL6ST deficiency
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Orphanet_656300 |
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Segmental spinal dysgenesis
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Orphanet_656126 |
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Intellectual disability-cupped ears syndrome
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Orphanet_656135 |
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Benign recurrent intrahepatic cholestasis
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Orphanet_65682 |
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Genetic steroid-resistant nephrotic syndrome
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Orphanet_656 |
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Hereditary steroid-resistant nephrotic syndrome
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Orphanet_656 |
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Benign atrophic papulosis
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Orphanet_656085 |
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Familial idiopathic steroid-resistant nephrotic syndrome
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Orphanet_656 |
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