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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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Cone rod dystrophy-short stature syndrome
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Orphanet_653709 |
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Pancreatic and cerebellar agenesis
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Orphanet_65288 |
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Adult-onset progressive leukoencephalopathy-early-onset deafness
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Orphanet_652532 |
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Autosomal recessive limb-girdle muscular dystrophy, type 28
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Orphanet_653725 |
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Biotin-responsive basal ganglia disease
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Orphanet_65284 |
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Biotin-thiamine-responsive basal ganglia disease
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Orphanet_65284 |
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Greig cephalopolysyndactyly-contiguous gene syndrome
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Orphanet_658805 |
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Intellectual disability-cupped ears syndrome
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Orphanet_656135 |
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Sclerosing lymphocytic lobulitis
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Orphanet_653698 |
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Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
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Orphanet_653880 |
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Self-healing squamous epithelioma type 1
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Orphanet_65748 |
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Enteropathy-associated T-cell lymphoma type 2
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Orphanet_652658 |
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Nodal T-cell lymphoma with TFH phenotype
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Orphanet_652650 |
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Nodal TFH lymphoma, follicular type
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Orphanet_652650 |
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Genetic central precocious puberty in girl
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Orphanet_650077 |
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