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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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3-phosphoserine phosphatase deficiency, prenatal form
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Orphanet_583612 |
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Terrien marginal degeneration
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Orphanet_519410 |
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Branched-chain 2-ketoacid dehydrogenase deficiency
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Orphanet_511 |
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Chromosome 16p13.2 deletion syndrome
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Orphanet_500055 |
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4q25 proximal deletion syndrome
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Orphanet_502437 |
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Proximal 11p deletion syndrome
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Orphanet_52022 |
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Primary triglyceride deposit cardiomyovasculopathy
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Orphanet_565612 |
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Anterior segment developmental anomaly of genetic origin
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Orphanet_522540 |
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Congenital chloride diarrhea
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Orphanet_53689 |
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SIN3A-related intellectual disability syndrome
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Orphanet_500163 |
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PUM1-associated developmental disability-ataxia-seizure syndrome
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Orphanet_589515 |
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GNB5-related intellectual disability-cardiac arrhythmia syndrome
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Orphanet_542306 |
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QRICH1-related intellectual disability-chondrodysplasia syndrome
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Orphanet_580940 |
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Growth delay-intellectual disability-hepatopathy syndrome
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Orphanet_541423 |
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X-linked intellectual disability-hypotonia syndrome
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Orphanet_59 |
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