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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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Fragile X-associated premature ovarian failure
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Orphanet_642691 |
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Fragile X-associated primary ovarian insufficiency
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Orphanet_642691 |
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Metastases without primary tumor
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Orphanet_631251 |
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Mandibuloacral dysplasia progeroid syndrome
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Orphanet_647667 |
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Mitochondrial DNA-related progressive external ophthalmoplegia
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Orphanet_663 |
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Isolated congenital proximal femoral deficiency
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Orphanet_633228 |
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Gonadotropin-dependant precocious puberty
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Orphanet_650063 |
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Central precocious puberty in boy
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Orphanet_649929 |
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Central precocious puberty in male
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Orphanet_649929 |
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Isolated left pulmonary artery sling
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Orphanet_658574 |
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Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
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Orphanet_617916 |
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Classic eosinophilic pustular folliculitis
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Orphanet_617408 |
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Congenital double pylorus
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Orphanet_662405 |
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Isolated retinal racemose hemangioma
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Orphanet_674924 |
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Fully investigated rare disorder without a determined diagnosis
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Orphanet_616874 |
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