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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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Adenoma of pancreas
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Orphanet_93292 |
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Dysostosis with predominant craniofacial involvement
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Orphanet_93453 |
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Dysostosis with predominant vertebral and costal involvement
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Orphanet_93454 |
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Autosomal recessive proximal renal tubular acidosis
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Orphanet_93607 |
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Isolated radial ray agenesis
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Orphanet_93321 |
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Non-syndromic limb reduction defect
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Orphanet_93457 |
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Genetic cystic renal disease
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Orphanet_93587 |
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Hereditary cystic renal disease
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Orphanet_93587 |
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Mesomelic and rhizo-mesomelic dysplasia
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Orphanet_93438 |
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Vitamin D-dependent rickets type II
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Orphanet_93160 |
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Vitamin D-resistant rickets type II
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Orphanet_93160 |
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Short limb skeletal dysplasia with SCID
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Orphanet_935 |
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Thanatophoric dwarfism-cloverleaf skull syndrome
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Orphanet_93274 |
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Non-syndromic polydactyly, syndactyly and/or hyperphalangy
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Orphanet_93458 |
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Charcot-Marie-Tooth disease-nephropathy syndrome
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Orphanet_93114 |
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