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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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LGMD R22 collagen 6-related dystrophy
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Orphanet_610 |
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LGMD D5 collagen VI-related dystrophy
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Orphanet_610 |
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LGMD R22 collagen VI-related dystrophy
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Orphanet_610 |
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Rare hereditary connective tissue disease
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Orphanet_619249 |
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Lysosomal alpha-D-mannosidase deficiency
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Orphanet_61 |
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Rare hereditary autoinflammatory disease
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Orphanet_619238 |
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F12-associated cold autoinflammatory syndrome
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Orphanet_617919 |
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Sporadic inclusion body myositis
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Orphanet_611 |
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Inherited hematologic cancer-predisposing syndrome
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Orphanet_619340 |
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NCKAP1L-associated hyperinflammatory disorder
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Orphanet_619953 |
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Chronic neurovisceral acid sphingomyelinase deficiency
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Orphanet_618891 |
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Acid sphingomyelinase deficiency
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Orphanet_618899 |
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Factor IX deficiency, Leyden type
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Orphanet_617930 |
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Spastic paraparesis-cataracts-speech delay syndrome
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Orphanet_615938 |
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Lethal 1p36.33 deletion syndrome
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Orphanet_615986 |
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