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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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Autosomal dominant Charcot-Marie-Tooth disease type 2V
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Orphanet_447964 |
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Polymerase proofreading-related adenomatous polyposis
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Orphanet_447877 |
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Mitochondrial pyruvate carrier deficiency
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Orphanet_447784 |
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IgG4-related sclerosing cholangitis
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Orphanet_447764 |
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Secondary sclerosing cholangitis
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Orphanet_447774 |
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Progressive scapulohumeroperoneal distal myopathy
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Orphanet_447977 |
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Combined immunodeficiency due to DOCK2 deficiency
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Orphanet_447737 |
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Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
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Orphanet_447974 |
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Isolated neck extensor myopathy
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Orphanet_447881 |
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Idiopathic dropped head syndrome
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Orphanet_447881 |
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Paroxysmal nocturnal hemoglobinuria
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Orphanet_447 |
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Cerebral visual impairment
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Orphanet_447788 |
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Cortical visual impairment
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Orphanet_447788 |
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Susceptibility to localized juvenile periodontitis
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Orphanet_447740 |
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Partial duplication of chromosome 19p
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Orphanet_447985 |
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