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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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FH-III
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Orphanet_251274 |
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MCPH
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Orphanet_2512 |
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PPRCA
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Orphanet_251295 |
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SPAX1
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Orphanet_251282 |
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Microcephalia vera
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Orphanet_2512 |
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Microcephaly vera
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Orphanet_2512 |
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True microcephaly
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Orphanet_2512 |
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Osteochondritis dissecans and short stature
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Orphanet_251262 |
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Benign concentric annular macular dystrophy
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Orphanet_251287 |
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Familial osteochondritis dissecans
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Orphanet_251262 |
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Autosomal recessive primary microcephaly
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Orphanet_2512 |
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Pigmented paravenous retinochoroidal atrophy
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Orphanet_251295 |
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Autosomal dominant spastic ataxia type 1
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Orphanet_251282 |
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Familial hyperaldosteronism type 3
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Orphanet_251274 |
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Familial hyperaldosteronism type III
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Orphanet_251274 |
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