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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.
Rare familial disorder with hypertrophic cardiomyopathy
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Orphanet_99739 |
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Rare familial disorder with hypertrophic subaortic stenosis
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Orphanet_99739 |
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Adult-onset autosomal dominant demyelinating leukodystrophy
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Orphanet_99027 |
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Adult-onset autosomal dominant leukodystrophy
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Orphanet_99027 |
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Congenital patent ductus arteriosus aneurysm
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Orphanet_99072 |
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Central hypothyroidism due to TRH receptor deficiency
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Orphanet_99832 |
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Cushing syndrome due to ectopic ACTH secretion
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Orphanet_99889 |
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Turner syndrome due to structural X chromosome anomalies
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Orphanet_99413 |
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Radicular dentin dysplasia
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Orphanet_99789 |
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Adult-onset foveomacular dystrophy
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Orphanet_99000 |
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Pseudo-vitelliform macular dystrophy
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Orphanet_99000 |
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Butterfly-shaped pattern dystrophy
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Orphanet_99001 |
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Butterfly-shaped pigment dystrophy
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Orphanet_99001 |
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Reflex sympathetic dystrophy
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Orphanet_99995 |
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Multifocal pattern dystrophy simulating Stargardt disease
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Orphanet_99003 |
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