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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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COXPD23
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Orphanet_444013 |
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COXPD24
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Orphanet_444458 |
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Del(11)(q22.2q22.3)
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Orphanet_444002 |
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Del(20)(q11.2)
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Orphanet_444051 |
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MUHH
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Orphanet_444 |
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Pseudohypoaldosteronism
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Orphanet_444916 |
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SPG73
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Orphanet_444099 |
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Monosomy 11q22.2q22.3
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Orphanet_444002 |
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Monosomy 20q11
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Orphanet_444051 |
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Cerebellar-facial-dental syndrome
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Orphanet_444072 |
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Cerebellofaciodental syndrome
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Orphanet_444072 |
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CHOPS syndrome
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Orphanet_444077 |
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COPA syndrome
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Orphanet_444092 |
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Hereditary amyloidosis
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Orphanet_444116 |
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PLACK syndrome
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Orphanet_444138 |
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