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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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Pyloric duplication
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Orphanet_662405 |
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Duodenal duplication
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Orphanet_662473 |
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Jujeno-ileal duplication
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Orphanet_662480 |
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ARPC4-related syndrome
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Orphanet_662762 |
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Vasa previa
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Orphanet_662786 |
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Mucopolysaccharidosis type 10
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Orphanet_662216 |
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HNRNPH2-Related Neurodevelopmental Disorder
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Orphanet_662198 |
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Nabais Sa-de Vries type 1 syndrome
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Orphanet_662179 |
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Nabais Sa-de Vries type 2 syndrome
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Orphanet_662175 |
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AMKL in adult
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Orphanet_662934 |
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Episodic memory defect leukoencephalopathy
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Orphanet_662229 |
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Hippocampal memory defect leukoencephalopathy
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Orphanet_662229 |
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Chromosome 22q13.3 deletion syndrome
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Orphanet_662169 |
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HNRNPR-related neurodevelopmental disorder
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Orphanet_662189 |
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HNRPH1-related neurodevelopmental disorder
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Orphanet_662207 |
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