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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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ABeta amyloidosis, Flemish type
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Orphanet_324718 |
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ABeta amyloidosis, Iowa type
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Orphanet_324708 |
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ABeta amyloidosis, Italian type
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Orphanet_324713 |
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ABeta amyloidosis, Piedmont type
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Orphanet_324703 |
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Mixed autoinflammatory and autoimmune syndrome
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Orphanet_324933 |
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Familial dyskinesia and facial myokymia
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Orphanet_324588 |
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Guttate hypopigmentation and punctate palmoplantar keratoderma
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Orphanet_324561 |
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Multiple paragangliomas associated with erythrocytosis
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Orphanet_324299 |
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Multiple paragangliomas associated with polycythemia
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Orphanet_324299 |
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Autosomal recessive axonal neuropathy with neuromyotonia
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Orphanet_324442 |
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Early-onset Lafora body disease
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Orphanet_324290 |
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Hereditary inclusion body myopathy type 4
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Orphanet_324381 |
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Benign Samaritan congenital myopathy
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Orphanet_324581 |
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Alpha-galactosidase A deficiency
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Orphanet_324 |
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Angiokeratoma corporis diffusum
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Orphanet_324 |
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