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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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Fragile X syndrome
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Orphanet_908 |
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Primary immunodeficiency syndrome due to LAMTOR2 deficiency
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Orphanet_90023 |
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Primary immunodeficiency syndrome due to P14 deficiency
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Orphanet_90023 |
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Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
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Orphanet_90023 |
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Hemolytic uremic syndrome with diarrhea
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Orphanet_90038 |
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Undifferentiated connective tissue syndrome
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Orphanet_90002 |
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CAH due to 11-beta-hydroxylase deficiency
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Orphanet_90795 |
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CAH due to 17-alpha-hydroxylase deficiency
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Orphanet_90793 |
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CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
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Orphanet_90791 |
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SEOAN due to MFN2 deficiency
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Orphanet_90118 |
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Hypothyroidism due to TSH receptor mutations
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Orphanet_90673 |
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Lupus erythematosus tumidus
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Orphanet_90283 |
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AR-CMT2, Ouvrier type
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Orphanet_90118 |
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Cockayne syndrome type 1
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Orphanet_90321 |
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Otopalatodigital syndrome type 1
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Orphanet_90650 |
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