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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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Beta-sarcoglycan-related LGMD R4
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Orphanet_119 |
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Congenital esophageal atresia
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Orphanet_1199 |
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Giant cell chondrodysplasia
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Orphanet_1190 |
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X-linked intellectual disability, Atkin type
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Orphanet_1193 |
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Limb-girdle muscular dystrophy type 2E
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Orphanet_119 |
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TMEM70-related mitochondrial encephalo-cardio-myopathy
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Orphanet_1194 |
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Autosomal recessive limb-girdle muscular dystrophy type 2E
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Orphanet_119 |
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Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
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Orphanet_119 |
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LGMD due to beta-sarcoglycan deficiency
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Orphanet_119 |
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Esophageal atresia with or without trachea-esophageal fistula
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Orphanet_1199 |
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