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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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Delta granule disease
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Orphanet_98456 |
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Dense granule disease
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Orphanet_98456 |
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Skeletal muscle disease
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Orphanet_98472 |
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Neuromuscular junction disease
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Orphanet_98491 |
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Motor neuron disease
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Orphanet_98503 |
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Rare lens disease
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Orphanet_98639 |
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Unclassified myelodysplastic/myeloproliferative disease
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Orphanet_98825 |
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Rare neurologic disease with psychiatric involvement
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Orphanet_98033 |
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Autosomal uniparental disomy
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Orphanet_98152 |
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Maternal uniparental disomy
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Orphanet_98153 |
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Paternal uniparental disomy
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Orphanet_98154 |
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Rare coagulation disorder
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Orphanet_98429 |
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Rare palpebral disorder
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Orphanet_98560 |
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Eyelids malposition disorder
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Orphanet_98567 |
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Rare eyebrow/eyelash disorder
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Orphanet_98594 |
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