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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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CMT4K
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Orphanet_391351 |
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FEPS
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Orphanet_391384 |
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FGLDS1
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Orphanet_391641 |
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FGLDS2
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Orphanet_391646 |
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Frontorhiny
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Orphanet_391474 |
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HSAN7
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Orphanet_391397 |
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HoFH
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Orphanet_391665 |
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2-methyl-3-hydroxybutyric aciduria, classic type
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Orphanet_391428 |
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MMT type 1
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Orphanet_391641 |
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Hereditary sensory and autonomic neuropathy type 7
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Orphanet_391397 |
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Hereditary sensory and autonomic neuropathy type VII
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Orphanet_391397 |
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STAT1 deficiency
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Orphanet_391311 |
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SURF1-related CMT4
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Orphanet_391351 |
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FOXP1 Syndrome
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Orphanet_391372 |
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2-methyl-3-hydroxybutyric aciduria
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Orphanet_391417 |
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