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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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Eccrine tumors-ectodermal dysplasia
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Orphanet_50944 |
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Generalized lymphatic dysplasia of Fotiou
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Orphanet_568062 |
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EXTL3-related neuro-immuno-skeletal dysplasia syndrome
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Orphanet_508533 |
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Neonatal osseous dysplasia type 1
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Orphanet_56304 |
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Childhood-onset generalized dystonia-optic atrophy syndrome
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Orphanet_508093 |
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Isolated chorioretinal dystrophy
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Orphanet_519300 |
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Isolated macular dystrophy
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Orphanet_519302 |
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Syndromic chorioretinal dystrophy
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Orphanet_519321 |
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Syndromic macular dystrophy
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Orphanet_519323 |
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Syndromic retinal dystrophy
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Orphanet_519325 |
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Genetic corneal dystrophy
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Orphanet_522560 |
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Lowe oculo-cerebro-renal dystrophy
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Orphanet_534 |
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Lowe oculocerebrorenal dystrophy
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Orphanet_534 |
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FLNA-related valvular dystrophy
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Orphanet_555877 |
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POMGNT2-related muscular dystrophy
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Orphanet_565899 |
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