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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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Desmin-related myofibrillar myopathy
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Orphanet_98909 |
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CRYAB-related myofobrillar myopathy
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Orphanet_98910 |
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ZASP-related myofibrillar myopathy
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Orphanet_98912 |
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Congenital multicore myopathy with external ophthalmoplegia
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Orphanet_98905 |
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Late-onset distal myopathy, Markesbery-Griggs type
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Orphanet_98912 |
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Corneal dystrophy of Bowman layer type 1
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Orphanet_98961 |
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Corneal dystrophy of Bowman layer type 2
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Orphanet_98960 |
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Corneal dystrophy of Bowman layer type I
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Orphanet_98961 |
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Corneal dystrophy of Bowman layer type II
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Orphanet_98960 |
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Cranial variant of GBS
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Orphanet_98919 |
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Cranial variant of Guillain-Barré syndrome
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Orphanet_98919 |
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Subepithelial amyloidosis of the cornea
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Orphanet_98957 |
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Coloboma of optic disc
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Orphanet_98947 |
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Coloboma of optic papilla
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Orphanet_98947 |
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Inverse Marcus-Gunn phenomenon
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Orphanet_98951 |
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