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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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mtDNA maintenance syndrome due to MGME1 deficiency
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Orphanet_352447 |
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mtDNA deletion syndrome with limb-girdle weakness
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Orphanet_352470 |
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mtDNA deletion syndrome with progressive myopathy
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Orphanet_352470 |
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ASD due to AUTS2 deficiency
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Orphanet_352490 |
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TS OCA type 1
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Orphanet_352737 |
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Oculocutaneous albinism type 1
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Orphanet_352731 |
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MP OCA type 1
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Orphanet_352734 |
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Oculocutaneous albinism type 7
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Orphanet_352745 |
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Brain dopamine-serotonin vesicular transport disease
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Orphanet_352649 |
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Cobblestone lissencephaly without muscular or eye involvement
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Orphanet_352682 |
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Cobblestone lissencephaly without muscular or ocular involvement
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Orphanet_352682 |
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