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| created at |
2024-09-23 16:23:50 UTC |
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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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SCAR13
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Orphanet_324262 |
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Renpenning syndrome
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Orphanet_3242 |
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Paraganglioma-somatostatinoma-polycythemia syndrome
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Orphanet_324299 |
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Multiple paragangliomas associated with erythrocytosis
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Orphanet_324299 |
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Multiple paragangliomas associated with polycythemia
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Orphanet_324299 |
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Early-onset Lafora body disease
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Orphanet_324290 |
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X-linked intellectual disability due to PQBP1 mutations
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Orphanet_3242 |
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X-linked intellectual disability, Renpenning type
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Orphanet_3242 |
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T-cell immunodeficiency due to RHOH deficiency
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Orphanet_324294 |
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Autosomal recessive spinocerebellar ataxia type 13
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Orphanet_324262 |
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T-cell immunodeficiency with epidermodysplasia verruciformis
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Orphanet_324294 |
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