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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 dominant Charcot-Marie-Tooth disease type 2J
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Orphanet_99943 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2K
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Orphanet_99944 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2L
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Orphanet_99945 |
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Adrenocorticotropic hormone-dependent Cushing syndrome
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Orphanet_99892 |
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Primary dystonia, DYT2 type
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Orphanet_99657 |
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CAVC-tetralogy of Fallot
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Orphanet_99068 |
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Spondyloepimetaphyseal dysplasia, Handigodu type
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Orphanet_99642 |
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DNA ligase IV deficiency
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Orphanet_99812 |
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Persistent left SVC connecting to left-sided atrium
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Orphanet_99111 |
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Persistent left SVC connecting to the roof of left-sided atrium
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Orphanet_99111 |
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Ovarian malignant Sertoli-Leydig cell tumor
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Orphanet_99916 |
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Acquired von Willebrand disease
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Orphanet_99147 |
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Acquired von Willebrand syndrome
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Orphanet_99147 |
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Mosaic monosomy X
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Orphanet_99228 |
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Malposition of a coronary ostium
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Orphanet_99090 |
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