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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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Nemaline myopathy
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Orphanet_607 |
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Distal titinopathy
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Orphanet_609 |
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Udd myopathy
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Orphanet_609 |
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Factor V Atlanta bleeding disorder
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Orphanet_600194 |
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Distal myopathy, Nonaka type
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Orphanet_602 |
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Distal myopathy, Udd type
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Orphanet_609 |
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Distal myopathy, Welander type
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Orphanet_603 |
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Vocal cord and pharyngeal distal myopathy
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Orphanet_600 |
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Hereditary cranium bifidum
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Orphanet_60015 |
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Congenital atrioventricular block
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Orphanet_60041 |
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Congenital heart block
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Orphanet_60041 |
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Hereditary inclusion body myopathy type 2
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Orphanet_602 |
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Pudendal neuralgia by pudendal nerve entrapment
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Orphanet_60039 |
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Alpha-1-proteinase inhibitor deficiency
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Orphanet_60 |
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Recessive KLHL7-related disorder
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Orphanet_603699 |
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