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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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FHEIG syndrome
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Orphanet_598603 |
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Distal myopathy
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Orphanet_599 |
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STXBP1-related encephalopathy
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Orphanet_599373 |
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AIH type 1
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Orphanet_563576 |
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BPES type 1
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Orphanet_572354 |
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Mucopolysaccharidosis type 1
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Orphanet_579 |
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LQT8 type 1
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Orphanet_595098 |
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GSD type 12
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Orphanet_57 |
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Glycogenosis type 12
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Orphanet_57 |
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Telomeric deletion 17p
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Orphanet_531 |
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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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PME type 2
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Orphanet_501 |
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Lissencephaly type 2
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Orphanet_51577 |
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clEDS type 2
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Orphanet_536532 |
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