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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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COL4A1 or COL4A2-related cerebral small vessel disease
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Orphanet_477759 |
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IL21-related infantile IBD
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Orphanet_477661 |
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Cerebelloparenchymal disorder IV
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Orphanet_475 |
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Ichthyosis hystrix Rheydt type
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Orphanet_477 |
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Renal tubular acidosis type 2
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Orphanet_47159 |
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Bruton type agammaglobulinemia
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Orphanet_47 |
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Hereditary sensory and autonomic neuropathy type 8
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Orphanet_478664 |
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Hereditary sensory and autonomic neuropathy type VIII
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Orphanet_478664 |
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Rare congenital anomaly of ventricular septum
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Orphanet_474347 |
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Familial cold autoinflammatory syndrome
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Orphanet_47045 |
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Type 1 condylar hyperplasia
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Orphanet_477781 |
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Other genetic dermis disorder
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Orphanet_477808 |
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Intermediate Charcot-Marie-Tooth disease
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Orphanet_476123 |
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PMP2-related Charcot-Marie-Tooth disease type 1
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Orphanet_476394 |
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Combined immunodeficiency due to TFRC deficiency
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Orphanet_476113 |
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