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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.
Autosomal dominant optic atrophy
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Orphanet_98672 |
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Early-onset X-linked optic atrophy
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Orphanet_98890 |
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Non-Leber type optic atrophy with early-onset
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Orphanet_98890 |
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Autosomal dominant optic atrophy, Kjer type
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Orphanet_98673 |
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Autosomal dominant optic atrophy, classic form
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Orphanet_98673 |
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Coloboma of optic disc
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Orphanet_98947 |
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Coloboma of optic papilla
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Orphanet_98947 |
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Pulmonary artery or pulmonary branch anomaly
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Orphanet_98719 |
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Rare systemic or rheumatologic disease
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Orphanet_98023 |
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Southeast Asian ovalocytosis
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Orphanet_98868 |
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Congenital CNIV palsy
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Orphanet_98686 |
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Inverse Marcus-Gunn phenomenon
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Orphanet_98951 |
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Syndromic retinitis pigmentosa
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Orphanet_98661 |
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Idiopathic interstitial pneumonia
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Orphanet_98300 |
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Desquamative interstitial pneumonia
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Orphanet_98852 |
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