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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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Combined immunodeficiency due to RELA haploinsufficiency
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Orphanet_596759 |
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FOXG1 syndrome due to intragenic alteration
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Orphanet_598164 |
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Distal muscular dystrophy
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Orphanet_599 |
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Hypomyelination of early myelinating structures
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Orphanet_599376 |
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Acute disseminated encephalomyelitis with anti-MOG antibodies
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Orphanet_592894 |
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Acute disseminated encephalomyelitis without anti-MOG antibodies
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Orphanet_592900 |
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Localized dystrophic epidermolysis bullosa
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Orphanet_595356 |
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EBS without extracutaneous involvement
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Orphanet_595346 |
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EBS with extracutaneous involvement
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Orphanet_595351 |
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Incomplete septal fibrosis
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Orphanet_596941 |
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Sorsby pseudoinflammatory fundus dystrophy
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Orphanet_59181 |
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Euthyroid dysprealbuminemic hyperthyroxinemia
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Orphanet_597939 |
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Euthyroid dystransthyretinemic hyperthyroxinemia
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Orphanet_597939 |
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Congenital adrenal hypoplasia
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Orphanet_595337 |
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Primary adrenal hypoplasia
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Orphanet_595337 |
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