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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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Autosomal dominant demyelinating Charcot-Marie-Tooth disease
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Orphanet_65753 |
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Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
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Orphanet_659873 |
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Microcephaly-short stature-intellectual disability syndrome
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Orphanet_658595 |
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CHD4-related neurodevelopmental disorder
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Orphanet_653712 |
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AD CID due to partial GP130 deficiency
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Orphanet_656313 |
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AD CID due to partial IL6ST deficiency
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Orphanet_656313 |
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AR CID due to IL6R deficiency
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Orphanet_656326 |
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X-linked CID due to SASH3 deficiency
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Orphanet_653751 |
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AR CID due to complete GP130 deficiency
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Orphanet_656283 |
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AR CID due to complete IL6ST deficiency
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Orphanet_656283 |
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AR CID due to partial GP130 deficiency
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Orphanet_656300 |
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AR CID due to partial IL6ST deficiency
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Orphanet_656300 |
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DNMT3A-related microcephalic dwarfism
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Orphanet_658595 |
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Segmental spinal dysgenesis
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Orphanet_656126 |
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Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
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Orphanet_658843 |
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