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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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Isolated respiratory chain complex disorder
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Orphanet_254846 |
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Autosomal recessive chorioretinopathy-microcephaly syndrome
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Orphanet_2518 |
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Multiple benign circumferential skin creases on limbs
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Orphanet_2505 |
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Pyruvate dehydrogenase complex component E3 deficiency
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Orphanet_255182 |
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Plantar flexion contracture
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Orphanet_251515 |
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Tumor of cranial and spinal nerves
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Orphanet_252057 |
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Circumferential skin creases, Kunze type
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Orphanet_2505 |
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Citric acid cycle disorder
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Orphanet_254749 |
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Tricarboxylic acid cycle disorder
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Orphanet_254749 |
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AICAR transformylase/IMP cyclohydrolase deficiency
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Orphanet_250977 |
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Reversible infantile cytochrome C oxidase deficiency
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Orphanet_254864 |
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Infantile reversible cytochrome C oxidase deficiency myopathy
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Orphanet_254864 |
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Microgastria-limb reduction defect syndrome
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Orphanet_2538 |
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Hemifacial microsomia-radial defects syndrome
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Orphanet_2549 |
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Glutaryl-CoA dehydrogenase deficiency
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Orphanet_25 |
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