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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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Congenital retinal arteriovenous communication
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Orphanet_353334 |
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Mitochondrial aspartate-glutamate carrier 1 deficiency
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Orphanet_353217 |
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Congenital arteriovenous communication of the retina
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Orphanet_353334 |
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Pyruvate carboxylase deficiency type A
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Orphanet_353308 |
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Pyruvate carboxylase deficiency type B
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Orphanet_353314 |
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Pyruvate carboxylase deficiency type C
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Orphanet_353320 |
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Pyruvate carboxylase deficiency, benign type
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Orphanet_353320 |
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Pyruvate carboxylase deficiency, infantile type
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Orphanet_353308 |
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Pyruvate carboxylase deficiency, severe neonatal type
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Orphanet_353314 |
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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
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Orphanet_353281 |
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Rubinstein-Taybi syndrome due to CREBBP mutations
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Orphanet_353277 |
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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
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Orphanet_353284 |
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Limb-girdle muscular dystrophy type 2C
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Orphanet_353 |
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Occlusive idiopathic juxtafoveolar retinal telangiectasis
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Orphanet_353351 |
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Autosomal recessive limb-girdle muscular dystrophy type 2C
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Orphanet_353 |
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