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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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Genetic central precocious puberty in male
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Orphanet_650097 |
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Non-genetic central precocious puberty in male
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Orphanet_650102 |
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Gonadotropin-dependant precocious puberty
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Orphanet_650063 |
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Isolated left pulmonary artery sling
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Orphanet_658574 |
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Multiple self-healing squamous epithelioma
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Orphanet_65748 |
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Ocular surface squamous neoplasia
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Orphanet_659744 |
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Idiopathic subglottic stenosis
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Orphanet_652681 |
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Familial idiopathic steroid-resistant nephrotic syndrome
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Orphanet_656 |
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Periodic fever-immunodeficiency-thrombocytopenia syndrome
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Orphanet_652522 |
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3q29 microdeletion syndrome
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Orphanet_65286 |
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CHD4-related neurodevelopmental syndrome
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Orphanet_653712 |
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Digenic Alport syndrome
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Orphanet_653722 |
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Jansen-de Vries syndrome
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Orphanet_653767 |
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Snijders Blok-Fisher syndrome
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Orphanet_656135 |
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1p36.33 duplication syndrome
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Orphanet_656279 |
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