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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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EBV-induced lymphoproliferative disease due to CD137 deficiency
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Orphanet_664726 |
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EBV-induced lymphoproliferative disease due to PRKCD deficiency
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Orphanet_664711 |
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EBV-induced lymphoproliferative disease due to TET2 deficiency
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Orphanet_664729 |
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SLC4A10-related neurodevelopmental disorder
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Orphanet_664430 |
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Hermansky-Pudlak syndrome due to AP3B1 deficiency
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Orphanet_664500 |
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MGP-related spondyloepiphyseal dysplasia
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Orphanet_664377 |
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Soft and hard cleft palate
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Orphanet_664372 |
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Inherited cancer-predisposing lymphoproliferative syndrome
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Orphanet_664450 |
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Embolia cutis medicamentosa
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Orphanet_664787 |
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Combined form of soft and hard cleft palate
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Orphanet_664372 |
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Trophic ulceration of the ala nasi
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Orphanet_664901 |
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Isolated cleft of the soft and hard palate
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Orphanet_664372 |
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6q25.1 microdeletion syndrome
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Orphanet_664404 |
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Trigeminal trophic syndrome
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Orphanet_664901 |
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Hermansky-Pudlak syndrome type 10
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Orphanet_664511 |
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