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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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Dihydropyrimidinuria
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Orphanet_38874 |
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GCPS
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Orphanet_380 |
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HSCR
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Orphanet_388 |
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NBIA
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Orphanet_385 |
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PPKP3
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Orphanet_38 |
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Sclerotylosis
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Orphanet_384 |
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Chédiak-Higashi-like syndrome
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Orphanet_381 |
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Griscelli syndrome
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Orphanet_381 |
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Griscelli-Pruniéras syndrome
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Orphanet_381 |
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GAMT deficiency
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Orphanet_382 |
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Huriez syndrome
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Orphanet_384 |
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Scleroatrophic syndrome
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Orphanet_384 |
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Biliary hamartoma
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Orphanet_386 |
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Aganglionic megacolon
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Orphanet_388 |
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Colonic aganglionosis
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Orphanet_388 |
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