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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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Infantile bilateral striatal necrosis
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Orphanet_1576 |
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Coloboma of superior eyelid
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Orphanet_155884 |
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Bilateral and symmetric oto-mandibular dysplasia
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Orphanet_155899 |
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Mesoaxial synostotic syndactyly with phalangeal reduction
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Orphanet_157801 |
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Short rib-polydactyly syndrome
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Orphanet_1505 |
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Small patella syndrome
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Orphanet_1509 |
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Craniodigital-intellectual disability syndrome
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Orphanet_1514 |
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Scott craniodigital syndrome
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Orphanet_1514 |
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SPECC1L-related hypertelorism syndrome
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Orphanet_1519 |
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Teebi hypertelorism syndrome
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Orphanet_1519 |
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Craniofacial-hearing loss-hand syndrome
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Orphanet_1529 |
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Cerebellotrigeminal-dermal dysplasia syndrome
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Orphanet_1532 |
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Craniosynostosis-alopecia-brain defect syndrome
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Orphanet_1532 |
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Cryptorchidism-arachnodactyly-intellectual disability syndrome
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Orphanet_1548 |
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Van Benthem-Driessen-Hanveld syndrome
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Orphanet_1548 |
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