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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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Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
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Orphanet_589542 |
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Systemic vasculitis associated with glomerulopathy
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Orphanet_567560 |
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Myoclonus epilepsy associated with ragged-red fibres
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Orphanet_551 |
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Congenital cerebellar ataxia due to RNU12 mutation
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Orphanet_512260 |
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Left sided atrial isomerism
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Orphanet_566862 |
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Balanced complete atrioventricular canal
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Orphanet_576227 |
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Unbalanced partial atrioventricular canal
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Orphanet_576232 |
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Balanced partial atrioventricular canal
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Orphanet_576235 |
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Posterior cortical atrophy
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Orphanet_54247 |
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Auditory neuropathy-optic atrophy syndrome
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Orphanet_542585 |
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Familial cold autoinflammatory syndrome 4
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Orphanet_576349 |
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Autosomal recessive axonal CMT due to copper metabolism defect
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Orphanet_521411 |
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Encephalopathy with basal ganglia calcification
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Orphanet_51 |
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Collagen-related glomerular basement membrane disease
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Orphanet_544590 |
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Apolipoprotein A-I binding protein deficiency
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Orphanet_555407 |
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