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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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Combined immunodeficiency due to FOXN1 haploinsufficiency
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Orphanet_676039 |
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Early-onset AID due to HA20
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Orphanet_674762 |
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AR CID due to IL6R deficiency
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Orphanet_656326 |
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Congenital neutropenia-CID due to MKL1 deficiency
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Orphanet_619941 |
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X-linked CID due to SASH3 deficiency
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Orphanet_653751 |
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Phelan-McDermid syndrome due to SHANK3 mutation
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Orphanet_662172 |
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Pontocerebellar hypoplasia due to TBC1D23
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Orphanet_611247 |
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Hao-Fountain syndrome due to USP7 mutation
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Orphanet_643538 |
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Serous maculopathy due to aspecific choroidopathy
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Orphanet_674958 |
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AR CID due to complete GP130 deficiency
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Orphanet_656283 |
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AR CID due to complete IL6ST deficiency
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Orphanet_656283 |
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Short stature due to growth hormone qualitative anomaly
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Orphanet_629 |
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Short stature due to growth hormone resistance
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Orphanet_633 |
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Rare disorder due to inadequate sharing of the placenta
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Orphanet_617313 |
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Neonatal glomerulopathy due to neprilysin alloimmunization
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Orphanet_69063 |
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