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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 congenital longitudinal deficiency of the radius
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Orphanet_93321 |
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Isolated congenital longitudinal deficiency of the tibia
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Orphanet_93322 |
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Isolated congenital longitudinal deficiency of the ulna
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Orphanet_93320 |
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Isolated ulnar longitudinal meromelia
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Orphanet_93320 |
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Isolated tibial longitudinal meromelia
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Orphanet_93322 |
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Isolated fibular longitudinal meromelia
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Orphanet_93323 |
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Pediatric systemic lupus erythematosus
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Orphanet_93552 |
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Ciliopathies with major skeletal involvement
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Orphanet_93426 |
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Unilateral congenital megacalycosis
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Orphanet_93176 |
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Congenital bilateral megacalycosis
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Orphanet_93177 |
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Bilateral hereditary micro-epiphyseal dysplasia
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Orphanet_93311 |
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Autosomal recessive multiple epiphyseal dysplasia
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Orphanet_93307 |
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Familial amyloid nephropathy due to apolipoprotein A-I variant
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Orphanet_93560 |
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Hereditary amyloid nephropathy due to apolipoprotein A-I variant
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Orphanet_93560 |
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Familial amyloid nephropathy due to lysozyme variant
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Orphanet_93561 |
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