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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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Non-syndromic ARM
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Orphanet_557 |
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Oculo-skeleto-dental syndrome
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Orphanet_557003 |
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Oculoskeletodental syndrome
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Orphanet_557003 |
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Marfan syndrome
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Orphanet_558 |
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Idiopathic gastroparesis
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Orphanet_558411 |
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Marinesco-Sjögren syndrome
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Orphanet_559 |
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LGMD type 1F
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Orphanet_55595 |
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LGMD type 1G
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Orphanet_55596 |
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HNRNPDL-related LGMD D3
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Orphanet_55596 |
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Filamin A-related X-linked myxomatous valvular dysplasia
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Orphanet_555877 |
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subtype of a disorder
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Orphanet_557494 |
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Myoclonus epilepsy associated with ragged-red fibres
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Orphanet_551 |
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Apolipoprotein A-I binding protein deficiency
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Orphanet_555407 |
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NAD(P)HX dehydratase deficiency
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Orphanet_555402 |
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NAD(P)HX epimerase deficiency
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Orphanet_555407 |
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