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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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Spinal dermal sinus
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Orphanet_645188 |
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Chaotic conus spinal cord lipoma
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Orphanet_645285 |
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Extramedullary conus spinal cord lipoma
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Orphanet_645297 |
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Intramedullary non-dysraphic spinal cord lipoma
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Orphanet_645359 |
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Conus sparing spinal cord lipoma
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Orphanet_645362 |
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Dysraphism with stalk
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Orphanet_645193 |
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Congenital esophageal stenosis
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Orphanet_645749 |
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Congenital oesophageal stenosis
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Orphanet_645749 |
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Endogenous Cushing syndrome
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Orphanet_641613 |
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Neonatal compartment syndrome
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Orphanet_641829 |
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CHD8 overgrowth syndrome
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Orphanet_642675 |
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Neuropathy-ataxia-retinitis pigmentosa syndrome
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Orphanet_644 |
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Berlin breakage syndrome
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Orphanet_647 |
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Immunodeficiency-microcephaly-chromosomal instability syndrome
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Orphanet_647 |
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Microcephaly-immunodeficiency-lymphoid malignancy syndrome
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Orphanet_647 |
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