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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.
Congenital myasthenic syndrome
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Orphanet_590 |
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Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
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Orphanet_59303 |
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McLeod neuroacanthocytosis syndrome
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Orphanet_59306 |
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X-linked McLeod syndrome
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Orphanet_59306 |
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Atypical Timothy syndrome
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Orphanet_595109 |
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Fibrous dysplasia/McCune-Albright syndrome
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Orphanet_595216 |
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SETD2-related overgrowth syndrome
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Orphanet_597738 |
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Snijders Blok-Campeau syndrome
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Orphanet_599082 |
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Multisystem inflammatory syndrome in children and adults
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Orphanet_598363 |
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CID due to RELA haploinsufficiency
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Orphanet_596759 |
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Perivascular epithelioid tumour
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Orphanet_595133 |
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Distal myopathy type 1
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Orphanet_59135 |
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Timothy syndrome type 1
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Orphanet_595098 |
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Timothy syndrome type 2
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Orphanet_595105 |
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Oculocutaneous albinism type 8
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Orphanet_597733 |
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