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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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Cystinuria type B
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Orphanet_93613 |
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Brachydactyly type C
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Orphanet_93384 |
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Hereditary vitamin D-resistant rickets
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Orphanet_93160 |
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Hypocalcemic vitamin D-resistant rickets
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Orphanet_93160 |
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Brachydactyly type E
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Orphanet_93387 |
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MIH type HPE
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Orphanet_93926 |
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Xanthinuria type I
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Orphanet_93601 |
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Mucopolysaccharidosis type IH
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Orphanet_93473 |
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Mucopolysaccharidosis type IH/S
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Orphanet_93476 |
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MC type II
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Orphanet_93554 |
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Xanthinuria type II
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Orphanet_93602 |
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MC type III
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Orphanet_93555 |
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Mucopolysaccharidosis type IS
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Orphanet_93474 |
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Spondyloepimetaphyseal dysplasia, Irapa type
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Orphanet_93351 |
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Autosomal recessive Kenny-Caffey syndrome
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Orphanet_93324 |
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