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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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CPS1D
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Orphanet_147 |
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CPS1 deficiency
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Orphanet_147 |
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Sorsby syndrome
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Orphanet_1471 |
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Papillo-renal syndrome
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Orphanet_1475 |
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Interatrial communication
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Orphanet_1478 |
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Interauricular communication
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Orphanet_1478 |
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Carbamoyl-phosphate synthetase 1 deficiency
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Orphanet_147 |
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Carbamoyl-phosphate synthetase I deficiency
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Orphanet_147 |
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Atrial septal defect
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Orphanet_1478 |
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Carbamoyl-phosphate synthetase deficiency
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Orphanet_147 |
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Uveal coloboma-cleft lip and palate-intellectual disability
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Orphanet_1473 |
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Coloboma of macula-brachydactyly type B syndrome
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Orphanet_1471 |
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Coloboma of optic nerve with renal disease
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Orphanet_1475 |
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Renal coloboma syndrome
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Orphanet_1475 |
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