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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.
Typical urticaria pigmentosa
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Orphanet_158766 |
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Plaque-form urticaria pigmentosa
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Orphanet_158769 |
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Nodular urticaria pigmentosa
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Orphanet_158772 |
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Deficiency of plasma-membrane carnitine transporter
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Orphanet_158 |
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Dandy-Walker malformation-postaxial polydactyly syndrome
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Orphanet_1566 |
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Hereditary mixed polyposis syndrome
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Orphanet_157794 |
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DWM with postaxial polydactyly
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Orphanet_1566 |
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Hyperphenylalaninemia with primapterinuria
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Orphanet_1578 |
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Isolated congenital pseudarthrosis of the limbs
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Orphanet_157808 |
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EBS with pyloric atresia
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Orphanet_158684 |
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Rare genetic respiratory disease
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Orphanet_156610 |
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Hereditary hypophosphatemic rickets with hypercalciuria
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Orphanet_157215 |
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Benign focal seizures of adolescence
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Orphanet_1544 |
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Epidermolysis bullosa simplex with circinate migratory erythema
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Orphanet_158681 |
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Epidermolysis bullosa simplex with pyloric atresia
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Orphanet_158684 |
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