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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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Cephalocele
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Orphanet_268817 |
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Del(21)(q22.13q22.2)
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Orphanet_268261 |
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LGMD2B
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Orphanet_268 |
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Myelocystocele
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Orphanet_268813 |
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RALD
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Orphanet_268114 |
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RI-CMT
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Orphanet_268337 |
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Intraocular medulloepithelioma
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Orphanet_268139 |
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Orbital medulloepithelioma
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Orphanet_268139 |
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Classic MSUD
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Orphanet_268145 |
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Intermediate MSUD
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Orphanet_268162 |
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Intermittent MSUD
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Orphanet_268173 |
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Thiamine-responsive MSUD
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Orphanet_268184 |
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MMF embryopathy
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Orphanet_268249 |
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Monosomy 21q22.13q22.2
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Orphanet_268261 |
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Open iniencephaly
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Orphanet_268363 |
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