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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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Congenital disorder of glycosylation type 1o
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Orphanet_263494 |
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Congenital disorder of glycosylation type 2i
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Orphanet_263487 |
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Congenital disorder of glycosylation type IIi
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Orphanet_263487 |
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Congenital disorder of glycosylation type Io
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Orphanet_263494 |
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Nevus fusculoceruleus ophthalmomaxillaris
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Orphanet_263425 |
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Hyperinsulinism due to INSR deficiency
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Orphanet_263458 |
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SDCD, CHST3 type
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Orphanet_263463 |
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SEMD, Maroteaux type
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Orphanet_263482 |
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Pseudo-Morquio syndrome type 2
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Orphanet_263482 |
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CDG syndrome type IIi
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Orphanet_263487 |
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CDG syndrome type Io
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Orphanet_263494 |
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