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| created at |
2024-09-23 16:23:50 UTC |
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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 recessive cerebellar ataxia due to STUB1 deficiency
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Orphanet_412057 |
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Primary retention of teeth
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Orphanet_412206 |
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Primary failure of tooth eruption
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Orphanet_412206 |
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Epidermolysis bullosa simplex due to BP230 deficiency
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Orphanet_412181 |
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Epidermolysis bullosa simplex due to exophilin 5 deficiency
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Orphanet_412189 |
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13q12.3 microdeletion syndrome
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Orphanet_412035 |
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EBS due to BP230 deficiency
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Orphanet_412181 |
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EBS due to exophilin 5 deficiency
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Orphanet_412189 |
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Familial dyslipidemia type 3
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Orphanet_412 |
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