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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.
KID/HID syndrome
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Orphanet_477 |
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Senter syndrome
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Orphanet_477 |
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Fibroblastic rheumatism
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Orphanet_477650 |
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Nodular fasciitis
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Orphanet_477742 |
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Pseudosarcomatous fasciitis
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Orphanet_477742 |
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Pseudosarcomatous fibromatosis
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Orphanet_477742 |
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Moyamoya angiopathy
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Orphanet_477768 |
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Rare hypercholesterolemia
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Orphanet_477811 |
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Trisomy 17p11.2-p12
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Orphanet_477817 |
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Trisomy 17p11.2p12
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Orphanet_477817 |
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Yuan-Harel-Lupski syndrome
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Orphanet_477817 |
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Kallmann syndrome
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Orphanet_478 |
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LGMD type 2X
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Orphanet_476084 |
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LGMD R25 BVES-related
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Orphanet_476084 |
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COL4A1 or COL4A2-related cerebral angiopathy
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Orphanet_477759 |
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