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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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MKL1-related neutrophil motility defect
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Orphanet_619941 |
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Inclusion body myositis
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Orphanet_611 |
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Familial atrial myxoma
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Orphanet_615 |
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Mild form of COL6-related dystrophy
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Orphanet_610 |
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Facial granuloma of Lever
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Orphanet_615943 |
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Mild form of collagen VI-related dystrophy
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Orphanet_610 |
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Chronic intervillositis of unknown etiology
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Orphanet_615970 |
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Narcolepsy with or without cataplexy
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Orphanet_619284 |
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Twin-reversed arterial perfusion sequence
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Orphanet_617297 |
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Parkinsonism with polyneuropathy
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Orphanet_611237 |
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Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
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Orphanet_617916 |
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Classic eosinophilic pustular folliculitis
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Orphanet_617408 |
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Fully investigated rare disorder without a determined diagnosis
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Orphanet_616874 |
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Fatty acyl-CoA reductase 1 superactivity
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Orphanet_615938 |
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Rare disorder related to monochorionic twin pregnancy
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Orphanet_617307 |
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