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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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Isolated metopic and sagittal craniosynostosis
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Orphanet_620192 |
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Non-syndromic metopic and sagittal craniosynostosis
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Orphanet_620192 |
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Isolated bicoronal and sagittal craniosynostosis
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Orphanet_620205 |
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Non-syndromic bicoronal and sagittal craniosynostosis
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Orphanet_620205 |
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Non-syndromic metopic and sagittal suture synostosis
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Orphanet_620192 |
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Hereditary motor and sensory neuropathy type 1
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Orphanet_65753 |
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Hereditary motor and sensory neuropathy type 2
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Orphanet_64746 |
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Hereditary motor and sensory neuropathy type 3
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Orphanet_64748 |
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Hereditary motor and sensory neuropathy type 5
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Orphanet_64751 |
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Hereditary motor and sensory neuropathy type III
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Orphanet_64748 |
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Hereditary motor and sensory neuropathy type V
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Orphanet_64751 |
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Congenital dyserythropoietic anemia with thombocytopenia
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Orphanet_67044 |
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Non histamine-induced angioedema
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Orphanet_658 |
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Littoral cell angioma
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Orphanet_673538 |
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Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
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Orphanet_660021 |
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