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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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Charcot-Marie-Tooth disease-hearing loss syndrome
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Orphanet_90658 |
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Intermittent cutaneous lupus
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Orphanet_90283 |
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Primary intestinal lymphangiectasia
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Orphanet_90362 |
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Secondary intestinal lymphangiectasia
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Orphanet_90363 |
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Congenital folate malabsorption
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Orphanet_90045 |
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Hereditary folate malabsorption
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Orphanet_90045 |
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Microdontia-type I microtia-deafness syndrome
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Orphanet_90024 |
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Microdontia-type I microtia-hearing loss syndrome
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Orphanet_90024 |
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Scleromyxedema without monoclonal gammopathy
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Orphanet_90400 |
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Self-healing papular mucinosis
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Orphanet_90397 |
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Atypical tuberous myxedema of Jadassohn-Dosseker
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Orphanet_90393 |
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Nodular lichen myxedematosus
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Orphanet_90393 |
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Isolated mitochondrial neurosensory deafness
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Orphanet_90641 |
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Mitochondrial non-syndromic neurosensory deafness
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Orphanet_90641 |
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X-linked isolated neurosensory deafness type DFN
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Orphanet_90625 |
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