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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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Poikiloderma with neutropenia, Clericuzio type
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Orphanet_221046 |
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Focal myoclonus of face
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Orphanet_221083 |
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Hereditary sclerosing poikiloderma, Weary type
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Orphanet_221039 |
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Aminopterin syndrome-like sine aminopterin
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Orphanet_221120 |
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Hypertelorism-microtia-facial clefting syndrome
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Orphanet_2213 |
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Malignant hyperthermia-arthrogryposis-torticollis syndrome
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Orphanet_2215 |
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Hydrocephaly/hydranencephaly due to cerebral vasculopathy
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Orphanet_221126 |
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Rothmund-Thomson syndrome type 1
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Orphanet_221008 |
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Rothmund-Thomson syndrome type 2
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Orphanet_221016 |
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Acrofrontofacionasal dysostosis type 2
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Orphanet_2211 |
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Acrofrontofacionasal syndrome type 2
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Orphanet_2211 |
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Encephaloclastic proliferative vasculopathy
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Orphanet_221126 |
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Combined immunodeficiency with facio-oculo-skeletal anomalies
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Orphanet_221139 |
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