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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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Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
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Orphanet_2504 |
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Serpinopathy with loss of serpin function
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Orphanet_250811 |
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Autosomal dominant optic atrophy and peripheral neuropathy
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Orphanet_250932 |
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Polymicrogyria with optic nerve hypoplasia
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Orphanet_250972 |
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Logopenic primary progressive aphasia
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Orphanet_250831 |
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5-amino-4-imidazole carboxamide ribosiduria
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Orphanet_250977 |
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Congenital circumferential skin folds
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Orphanet_2505 |
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ACC-abnormal genitalia syndrome
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Orphanet_2508 |
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1q21.1 microdeletion syndrome
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Orphanet_250989 |
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1q21.1 microduplication syndrome
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Orphanet_250994 |
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1q41q42 microdeletion syndrome
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Orphanet_250999 |
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AICA-ribosiduria due to ATIC deficiency
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Orphanet_250977 |
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Serpinopathy with toxic serpin polymerization
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Orphanet_250808 |
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Acrogeria, Gottron type
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Orphanet_2500 |
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