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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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Autosomal recessive spinocerebellar ataxia type 20
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Orphanet_397709 |
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Brachydactyly-short stature-microcephaly syndrome
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Orphanet_391646 |
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XX, male syndrome
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Orphanet_393 |
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Activated PI3K-delta syndrome
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Orphanet_397596 |
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Macrocephaly-developmental delay syndrome
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Orphanet_397612 |
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3q27.3 microdeletion syndrome
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Orphanet_397695 |
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Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
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Orphanet_397744 |
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MAGEL2-related Prader-Willi-like syndrome
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Orphanet_398069 |
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SIM1-related Prader-Willi-like syndrome
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Orphanet_398079 |
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Neonatal Hughes syndrome
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Orphanet_398097 |
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Neonatal antiphospholipid syndrome
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Orphanet_398097 |
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Prion protein systemic amyloidosis
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Orphanet_397606 |
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Ovarian immature teratoma
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Orphanet_398987 |
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Ovarian malignant teratoma
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Orphanet_398987 |
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Epiphysiolysis of the hip
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Orphanet_399329 |
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