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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.
Microspherophakia-metaphyseal dysplasia syndrome
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Orphanet_2551 |
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mtDNA-associated Leigh syndrome
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Orphanet_255210 |
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Ear-patella-short stature syndrome
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Orphanet_2554 |
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Microphthalmia-dermal aplasia-sclerocornea syndrome
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Orphanet_2556 |
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Glycine cleavage system L protein deficiency
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Orphanet_255182 |
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Syndromic microphthalmia type 7
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Orphanet_2556 |
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