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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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Duplication of the colon
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Orphanet_662392 |
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Anomaly of the filum
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Orphanet_645282 |
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Lipoma of the filum terminale
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Orphanet_645325 |
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Actinomyopathy-associated syndromic thrombocytopenia
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Orphanet_674653 |
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Bartonellosis due to Bartonella quintana infection
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Orphanet_64694 |
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AD-CID due to ERBIN deficiency
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Orphanet_656912 |
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Amoebiasis due to Entamoeba histolytica
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Orphanet_67 |
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Epilepsy due to FCD
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Orphanet_65683 |
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Tyrosinemia due to HPD deficiency
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Orphanet_69723 |
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HAFOUS due to USP7 mutation
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Orphanet_643538 |
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AR-HIES due to ZNF341 deficiency
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Orphanet_641368 |
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LGMD due to alpha-sarcoglycan deficiency
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Orphanet_62 |
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Obesity due to congenital leptin deficiency
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Orphanet_66628 |
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CS due to cortisol-producing adrenocortical adenoma
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Orphanet_642788 |
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Amoebiasis due to free-living amoebae
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Orphanet_68 |
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