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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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Infantile myofibromatosis
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Orphanet_2591 |
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Maternal monosomy 14q32.2
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Orphanet_254528 |
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LGMD type 2Q
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Orphanet_254361 |
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Ring chromosome 5
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Orphanet_251043 |
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Ring chromosome 5 syndrome
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Orphanet_251043 |
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Distal monosomy 7q11.23
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Orphanet_254351 |
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Mycosis fungoides, Alibert-Bazin type
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Orphanet_2584 |
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Richieri Costa-Guion Almeida-Ramos syndrome
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Orphanet_2511 |
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RI-CMT type B
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Orphanet_254334 |
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Sickle cell-hemoglobin C disease syndrome
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Orphanet_251365 |
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Isolated cytochrome C oxidase deficiency
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Orphanet_254905 |
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Severe C12ORF65-related COXPD
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Orphanet_254930 |
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Sickle cell-hemoglobin D disease syndrome
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Orphanet_251370 |
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Multiple mitochondrial DNA deletion syndrome
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Orphanet_254807 |
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Sickle cell-hemoglobin E disease syndrome
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Orphanet_251375 |
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