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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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Late-onset distal crystallinopathy
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Orphanet_399058 |
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Asparagine synthetase deficiency
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Orphanet_391376 |
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2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
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Orphanet_391417 |
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Cystathionine beta-synthase deficiency
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Orphanet_394 |
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TCR-alpha-beta+ T-cell deficiency
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Orphanet_397959 |
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TCR-alpha-beta-positive T-cell deficiency
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Orphanet_397959 |
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Multiple acyl-CoA dehydrogenase deficiency, mild type
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Orphanet_394532 |
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Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
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Orphanet_394529 |
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SURF1-related severe demyelinating Charcot-Marie-Tooth disease
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Orphanet_391351 |
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Focal facial dermal dysplasia
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Orphanet_398166 |
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Focal facial dermal dysplasia 2, Brauer-Setleis type
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Orphanet_398173 |
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Focal facial dermal dysplasia 4
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Orphanet_398189 |
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Focal facial dermal dysplasia type II
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Orphanet_398173 |
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Focal facial dermal dysplasia type IV
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Orphanet_398189 |
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Disseminated granulomatous dermatophytosis
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Orphanet_397587 |
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