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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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Non-syndromic unilateral squamosal suture synostosis
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Orphanet_620146 |
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Non-syndromic single suture synostosis
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Orphanet_620096 |
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Non-syndromic multiple suture synostosis
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Orphanet_620152 |
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Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
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Orphanet_621758 |
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Genetic autoinflammatory syndrome with skin involvement
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Orphanet_622720 |
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X-linked severe syndromic TAAD
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Orphanet_622925 |
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Non-syndromic anterior synostotic plagiocephaly
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Orphanet_620102 |
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Non-syndromic posterior synostotic plagiocephaly
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Orphanet_620113 |
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Functional methionine synthase deficiency
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Orphanet_622 |
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LGMD due to alpha-sarcoglycan deficiency
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Orphanet_62 |
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Gitelman-like kidney tubulopathy due to mtDNA mutation
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Orphanet_620371 |
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Rare andrological tumor
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Orphanet_626609 |
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Bartter syndrome type 1
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Orphanet_620217 |
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Bartter syndrome type 2
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Orphanet_620220 |
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Bartter syndrome type I
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Orphanet_620217 |
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