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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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Disorder of neutral amino acid transport
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Orphanet_308451 |
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GBE deficiency, non progressive hepatic form
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Orphanet_308638 |
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GSDIV, fatal perinatal neuromuscular form
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Orphanet_308655 |
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Erythrokeratoderma variabilis progressiva
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Orphanet_308166 |
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GBE deficiency, progressive hepatic form
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Orphanet_308621 |
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GSDIV, non progressive hepatic form
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Orphanet_308638 |
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Functional methionine synthase deficiency type cblDv1
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Orphanet_308380 |
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Retinopathy-anemia-central nervous system anomalies syndrome
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Orphanet_3088 |
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GSD due to acid maltase deficiency, infantile onset
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Orphanet_308552 |
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Glycogenosis due to acid maltase deficiency, infantile onset
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Orphanet_308552 |
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GSD due to glycogen synthase deficiency
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Orphanet_308520 |
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Glycogenosis due to glycogen synthase deficiency
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Orphanet_308520 |
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Methylcobalamin deficiency type cblDv1
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Orphanet_308380 |
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Autosomal dominant vitreoretinochoroidopathy
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Orphanet_3086 |
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Dyskeratosis congenita with bilateral exudative retinopathy
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Orphanet_3088 |
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