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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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Rare dystonic disorder
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Orphanet_68363 |
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Rare parkinsonian disorder
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Orphanet_68402 |
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Early-onset autoinflammatory disorder due to HA20
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Orphanet_674762 |
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Mild peroxisomal disorder due to PEX16 deficiency
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Orphanet_642954 |
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Mild peroxisomal disorder due to PEX2 deficiency
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Orphanet_642965 |
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Isolated congenital distal femoral duplication
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Orphanet_667589 |
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OPA3, autosomal dominant
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Orphanet_67036 |
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Myelic limited dorsal malformation
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Orphanet_645378 |
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Non-saccular limited dorsal myeloschisis
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Orphanet_645343 |
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Saccular limited dorsal myeloschisis
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Orphanet_645354 |
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AD CID due to partial GP130 deficiency
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Orphanet_656313 |
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AD CID due to partial IL6ST deficiency
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Orphanet_656313 |
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Phelan-McDermid syndrome due to 22q13.3 deletion
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Orphanet_662169 |
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Hermansky-Pudlak syndrome due to AP3B1 deficiency
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Orphanet_664500 |
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Combined immunodeficiency due to FCHO1 deficiency
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Orphanet_647804 |
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