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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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Corpus callosum agenesis-neuronopathy syndrome
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Orphanet_1496 |
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Cleft lip and alveolus
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Orphanet_141291 |
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Hereditary sensory and autonomic neuropathy
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Orphanet_140471 |
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Joubert syndrome and related disorders
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Orphanet_140874 |
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Hereditary breast and/or ovarian cancer syndrome
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Orphanet_145 |
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Generalized lymphatic anomaly
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Orphanet_141209 |
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Double inlet atrioventricular connection
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Orphanet_1464 |
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Regional choroidal atrophy and alopecia
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Orphanet_1433 |
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Celiac disease-epilepsy-cerebral calcification syndrome
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Orphanet_1459 |
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External auditory canal aplasia/hypoplasia
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Orphanet_141074 |
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External auditory canal stenosis/atresia
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Orphanet_141074 |
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Anaplastic thyroid carcinoma
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Orphanet_142 |
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Differentiated thyroid carcinoma
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Orphanet_146 |
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Well-differentiated thyroid carcinoma
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Orphanet_146 |
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Familial articular chondrocalcinosis
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Orphanet_1416 |
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