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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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Microphthalmia-coloboma-rhizomelic skeletal dysplasia
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Orphanet_424099 |
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Colobomatous microphthalmia-rhizomelic dysplasia syndrome
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Orphanet_424099 |
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Adult-onset cervical dystonia, DYT23 type
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Orphanet_420492 |
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Progressive myoclonic epilepsy due to CERS1 deficiency
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Orphanet_424027 |
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Progressive myoclonic epilepsy type 8
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Orphanet_424027 |
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Progressive myoclonus epilepsy type 8
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Orphanet_424027 |
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Rare rectal epithelial tumor
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Orphanet_423998 |
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Rare pancreatic epithelial tumor
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Orphanet_424033 |
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Rare malignant epithelial tumor of liver and IBT
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Orphanet_424933 |
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Idiopathic and/or familial pulmonary arterial hypertension
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Orphanet_422 |
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ML 3 gamma
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Orphanet_423470 |
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ML III gamma
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Orphanet_423470 |
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Pancreatic osteoclastic giant cell tumor
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Orphanet_424080 |
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Woolly hair-palmoplantar hyperkeratosis syndrome
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Orphanet_420686 |
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Familial non-immune hyperthyroidism
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Orphanet_424 |
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