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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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Non-distal monosomy 10q
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Orphanet_1581 |
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Non-telomeric monosomy 10q
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Orphanet_1581 |
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Localized DEB, acral form
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Orphanet_158673 |
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Hemophagocytic syndrome associated with an infection
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Orphanet_158048 |
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Systemic primary carnitine deficiency
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Orphanet_158 |
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Indeterminate dendritic cell neoplasm
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Orphanet_158019 |
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Indeterminate dendritic cell tumor
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Orphanet_158019 |
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EBS with circinate migratory erythema
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Orphanet_158681 |
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Carnitine transporter defect
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Orphanet_158 |
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Carnitine uptake deficiency
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Orphanet_158 |
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Localized dystrophic epidermolysis bullosa, acral form
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Orphanet_158673 |
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Localized dystrophic epidermolysis bullosa, nails only
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Orphanet_158676 |
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Lethal acantholytic erosive disorder
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Orphanet_158687 |
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Ectodermal dysplasia-skin fragility syndrome
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Orphanet_158668 |
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Rare genetic hematologic disease
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Orphanet_158300 |
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