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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.
Non-transplant-related bronchiolitis obliterans
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Orphanet_658612 |
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Spina bifida occulta
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Orphanet_645202 |
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Mild form of COL6-related dystrophy
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Orphanet_610 |
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Amaurosis congenita of Leber
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Orphanet_65 |
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Facial granuloma of Lever
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Orphanet_615943 |
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Paramyotonia congenita of Von Eulenburg
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Orphanet_684 |
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Symptomatic form of XLCNM in female carriers
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Orphanet_604680 |
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Symptomatic form of XLMTM in female carriers
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Orphanet_604680 |
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Non-syndromic synostosis of all cranial vault sutures
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Orphanet_620212 |
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Mild form of collagen VI-related dystrophy
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Orphanet_610 |
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Combined deficiency of factor VII and factor X
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Orphanet_600691 |
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Segmental hemangioma of infancy
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Orphanet_675380 |
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Polymorphic eruption of pregnancy
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Orphanet_64745 |
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Intrahepatic cholestasis of pregnancy
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Orphanet_69665 |
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Combined form of soft and hard cleft palate
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Orphanet_664372 |
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