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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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SCAN 2
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Orphanet_64753 |
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Becker melanosis
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Orphanet_64755 |
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Adrenal CS
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Orphanet_647758 |
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Isolated PPNAD
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Orphanet_647772 |
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Isolated PUGS
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Orphanet_647794 |
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Cardiac-urogenital syndrome
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Orphanet_647811 |
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SLC40A1-related hemochromatosis
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Orphanet_647834 |
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Conjoined twins
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Orphanet_647916 |
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Siamese twins
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Orphanet_647916 |
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Ataxia-telangiectasia, variant 1
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Orphanet_647 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2
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Orphanet_64746 |
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Isolated micronodular adrenocortical disease
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Orphanet_647782 |
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Hereditary sensory and autonomic neuropathy type 5
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Orphanet_64752 |
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Hereditary sensory and autonomic neuropathy type V
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Orphanet_64752 |
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Hereditary motor and sensory neuropathy type 2
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Orphanet_64746 |
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