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| created at |
2024-09-23 16:23:50 UTC |
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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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Distal monosomy 7q36
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Orphanet_1636 |
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Telomeric deletion 7q36
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Orphanet_1636 |
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Spondyloepiphyseal dysplasia, Cantu type
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Orphanet_163654 |
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Spondyloepiphyseal dysplasia, MacDermot type
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Orphanet_163668 |
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Multiple Enchondromatosis, Maffucci Type
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Orphanet_163634 |
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Spondyloepiphyseal dysplasia, Nishimura type
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Orphanet_163649 |
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Spondyloepiphyseal dysplasia, Reardon type
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Orphanet_163662 |
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CNTNAP2-related developmental and epileptic encephalopathy
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Orphanet_163681 |
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X-linked dominant chondrodysplasia, Chassaing-Lacombe type
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Orphanet_163966 |
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X-linked intellectual disability, Cilliers type
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Orphanet_163971 |
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X-linked intellectual disability, Kroes type
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Orphanet_163961 |
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X-linked intellectual disability, Najm type
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Orphanet_163937 |
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X-linked intellectual disability, Nascimento type
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Orphanet_163956 |
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X-linked intellectual disability, Van Esch type
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Orphanet_163976 |
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X-linked intellectual disability-craniofacioskeletal syndrome
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Orphanet_163979 |
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