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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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Congenital lipoid adrenal hyperplasia due to STAR deficency
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Orphanet_90790 |
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Primary familial and congenital polycythemia
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Orphanet_90042 |
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Peripheral neuropathy and optic atrophy
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Orphanet_90120 |
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Hereditary motor and sensory neuropathy type 6
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Orphanet_90120 |
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Hereditary motor and sensory neuropathy type VI
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Orphanet_90120 |
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Hereditary motor and sensory neuropathy with acrodystrophy
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Orphanet_90119 |
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Hereditary motor and sensory neuropathy, Okinawa type
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Orphanet_90117 |
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Hereditary motor and sensory neuropathy, proximal type
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Orphanet_90117 |
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Donath-Landsteiner hemolytic anemia
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Orphanet_90035 |
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Non-spherocytic hemolytic anemia due to hexokinase deficiency
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Orphanet_90031 |
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Autoimmune hemolytic anemia, warm type
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Orphanet_90033 |
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Acute peripheral arterial occlusion
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Orphanet_90064 |
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Severe early-onset axonal neuropathy due to MFN2 deficiency
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Orphanet_90118 |
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Pneumonia caused by Pseudomonas aeruginosa infection
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Orphanet_90066 |
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Lipoatrophy caused by injected drug
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Orphanet_90157 |
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