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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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Achondroplasia-Swiss type agammaglobulinemia syndrome
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Orphanet_935 |
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Fibrinogen A alpha-chain amyloidosis
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Orphanet_93562 |
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Peroxisomal alanine-glyoxylate aminotransferase deficiency
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Orphanet_93598 |
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Apolipoprotein A-I amyloidosis
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Orphanet_93560 |
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Familial renal amyloidosis due to apolipoprotein A-I variant
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Orphanet_93560 |
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Hereditary renal amyloidosis due to apolipoprotein A-I variant
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Orphanet_93560 |
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Familial renal amyloidosis due to lysozyme variant
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Orphanet_93561 |
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Hereditary renal amyloidosis due to lysozyme variant
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Orphanet_93561 |
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Polydactyly of an index finger
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Orphanet_93337 |
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Spondyloepimetaphyseal dysplasia, anauxetic type
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Orphanet_93347 |
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Brachymesophalangy II and V
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Orphanet_93394 |
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Renal cysts and diabetes syndrome
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Orphanet_93111 |
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Cleidocranial dysplasia and isolated cranial ossification defect
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Orphanet_93451 |
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Campomelic dysplasia and related disorders
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Orphanet_93439 |
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dRTA with anemia
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Orphanet_93610 |
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