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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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Pigmented paravenous retinochoroidal atrophy
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Orphanet_251295 |
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Double heterozygotes sickling disorder
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Orphanet_251355 |
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Autosomal dominant spastic ataxia type 1
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Orphanet_251282 |
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Warburg micro syndrome
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Orphanet_2510 |
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2q31.1 microdeletion syndrome
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Orphanet_251014 |
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2q32q33 microdeletion syndrome
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Orphanet_251019 |
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2q33.1 microdeletion syndrome
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Orphanet_251028 |
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3q29 microduplication syndrome
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Orphanet_251038 |
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6p22 microdeletion syndrome
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Orphanet_251046 |
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6q25.2q25.3 microdeletion syndrome
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Orphanet_251056 |
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7q31 microdeletion syndrome
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Orphanet_251061 |
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8p11.2 deletion syndrome
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Orphanet_251066 |
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8p23.1 microdeletion syndrome
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Orphanet_251071 |
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8p23.1 duplication syndrome
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Orphanet_251076 |
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Microbrachycephaly-ptosis-cleft lip syndrome
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Orphanet_2511 |
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