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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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Myopathic Ehlers-Danlos syndrome
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Orphanet_536516 |
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AEBP1-related Ehlers-Danlos syndrome
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Orphanet_536532 |
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Kyphoscoliotic Ehlers-Danlos syndrome
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Orphanet_536545 |
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Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome
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Orphanet_538574 |
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XIAP deficiency syndrome
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Orphanet_538934 |
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X-linked lymphoproliferative syndrome type 1
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Orphanet_538931 |
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Classical-like Ehlers-Danlos syndrome type 2
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Orphanet_536532 |
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X-linked lymphoproliferative syndrome type 2
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Orphanet_538934 |
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Lissencephaly due to 17p13.3 deletion
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Orphanet_531 |
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CID due to CD70 deficiency
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Orphanet_538958 |
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Familial multiple trichodiscomas
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Orphanet_538756 |
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Classical-like EDS type 2
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Orphanet_536532 |
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Ehlers-Danlos syndrome type 6
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Orphanet_536545 |
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Progressive dementia with neuroserpin inclusion bodies
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Orphanet_530303 |
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PLG-related HAE with normal C1 inhibitor
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Orphanet_537072 |
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