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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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Syndromic retinal dystrophy
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Orphanet_519325 |
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Isolated congenital entropion
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Orphanet_519386 |
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Autosomal recessive epidermolytic ichthyosis
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Orphanet_512103 |
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Congenital cystic eye
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Orphanet_519384 |
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Structural developmental eye defect
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Orphanet_519272 |
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Secondary early-onset glaucoma
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Orphanet_519331 |
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HPRT deficiency grade IV
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Orphanet_510 |
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NK-cell lineage granular lymphocyte proliferative disorder
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Orphanet_512017 |
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Isolated foveal hypoplasia
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Orphanet_519398 |
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Isolated progressive inherited retinal disorder
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Orphanet_519306 |
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Isolated stationary inherited retinal disorder
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Orphanet_519319 |
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Rare disorder involving multiple structures of the eye
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Orphanet_519329 |
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Inflammatory/autoimmune disorder involving the lacrimal system
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Orphanet_519264 |
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Syndromic ectopia lentis
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Orphanet_519292 |
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Acute lymphoblastic leukemia
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Orphanet_513 |
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