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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 congenital femoral bifurcation
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Orphanet_667589 |
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Isolated proximal femoral focal deficiency
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Orphanet_633228 |
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Idiopathic small fibers neuropathy
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Orphanet_658549 |
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Isolated transitional filum lipoma
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Orphanet_645322 |
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Anonychia with flexural pigmentation
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Orphanet_69125 |
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Endemic pemphigus foliaceus
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Orphanet_636955 |
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Enlarged parietal foramina
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Orphanet_60015 |
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Symmetric parietal foramina
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Orphanet_60015 |
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Congenital hypomelanotic freckle
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Orphanet_674935 |
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Non-syndromic unilateral frontosphenoidal suture synostosis
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Orphanet_620139 |
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Non-syndromic congenital functional defect of phagocytes
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Orphanet_674896 |
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Non-syndromic constitutional functional phagocyte defect
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Orphanet_674896 |
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Biotin-responsive basal ganglia disease
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Orphanet_65284 |
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Biotin-thiamine-responsive basal ganglia disease
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Orphanet_65284 |
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Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
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Orphanet_69126 |
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