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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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Monosomy 7qter
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Orphanet_1636 |
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Maffucci syndrome
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Orphanet_163634 |
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Tattoo dysplasia
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Orphanet_163654 |
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CDFE syndrome
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Orphanet_163681 |
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CNTNAP2-related DEE
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Orphanet_163681 |
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Hypotonia-cystinuria syndrome
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Orphanet_163690 |
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Monosomy 2p21
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Orphanet_163693 |
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Myoclonus-nephropathy syndrome
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Orphanet_163696 |
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DESC syndrome
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Orphanet_163703 |
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Benign FMTLE
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Orphanet_163717 |
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WS4 plus
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Orphanet_163746 |
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Palmoplantar pustulosis
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Orphanet_163927 |
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Atopic keratoconjunctivitis
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Orphanet_163934 |
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Hyperekplexia-epilepsy syndrome
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Orphanet_163985 |
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Distal deletion 7q36
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Orphanet_1636 |
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