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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 head and neck malformation
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Orphanet_155832 |
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Non-syndromic bilambdoid and sagittal craniosynostosis
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Orphanet_1516 |
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Bilateral lambdoid and sagittal synostosis
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Orphanet_1516 |
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Craniofrontonasal dysplasia-Poland anomaly syndrome
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Orphanet_1521 |
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Anti-neutrophil cytoplasmic antibody-associated vasculitis
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Orphanet_156152 |
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Antineutrophil cytoplasmic antibody-associated vasculitis
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Orphanet_156152 |
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Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
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Orphanet_1547 |
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Hemophagocytic syndrome associated with an infection
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Orphanet_158048 |
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Otomandibular dysplasia associated with monogenic syndromes
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Orphanet_156202 |
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Thin ribs-tubular bones-dysmorphism syndrome
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Orphanet_1506 |
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Neurodegeneration with brain iron accumulation type 1
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Orphanet_157850 |
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Squamous cell carcinoma of the nasopharynx
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Orphanet_150 |
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Systemic primary carnitine deficiency
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Orphanet_158 |
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Rare genetic cause of hypertension
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Orphanet_156629 |
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Nose and cavum anomaly
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Orphanet_156246 |
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