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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 peripheral neuropathy
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Orphanet_98497 |
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Hereditary optic neuropathy
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Orphanet_98671 |
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Autosomal dominant nocturnal frontal lobe epilepsy
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Orphanet_98784 |
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Autosomal recessive non-syndromic optic atrophy
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Orphanet_98676 |
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Genetic non-syndromic obesity
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Orphanet_98267 |
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Congenital superior oblique palsy
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Orphanet_98686 |
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Benign childhood occipital epilepsy, Gastaut type
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Orphanet_98816 |
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Benign childhood occipital epilepsy, Panayiotopoulos type
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Orphanet_98815 |
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Oculocutaneous or ocular albinism
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Orphanet_98706 |
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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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