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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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Coloboma of inferior eyelid
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Orphanet_155889 |
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Incomplete situs inversus
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Orphanet_157769 |
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Partial situs inversus
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Orphanet_157769 |
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Hypotrichosis with juvenile macular degeneration
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Orphanet_1573 |
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Hypotrichosis with juvenile macular dystrophy
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Orphanet_1573 |
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Genetic parenchymatous liver disease
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Orphanet_156604 |
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Genetic hemophagocytic lymphohistiocytosis
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Orphanet_158038 |
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Primary hemophagocytic lymphohistiocytosis
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Orphanet_158038 |
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Acquired hemophagocytic lymphohistiocytosis
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Orphanet_158041 |
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Secondary hemophagocytic lymphohistiocytosis
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Orphanet_158041 |
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Paralytic facial malformation
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Orphanet_156224 |
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Facial arteriovenous malformation
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Orphanet_156230 |
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Isolated bone marrow mastocytosis
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Orphanet_158778 |
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Smoldering systemic mastocytosis
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Orphanet_158775 |
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Spondyloepimetaphyseal dysplasia, matrilin-3 type
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Orphanet_156728 |
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