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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.
SMCD
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Orphanet_98959 |
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TBCD
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Orphanet_98960 |
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dHMN6
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Orphanet_98920 |
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dSMA1
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Orphanet_98920 |
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Aglossia-adactylia syndrome
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Orphanet_989 |
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Huntington disease-like 2
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Orphanet_98934 |
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Hanhart syndrome
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Orphanet_989 |
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Hypoglossia-hypodactyly syndrome
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Orphanet_989 |
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Jussieu syndrome
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Orphanet_989 |
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Actin myopathy
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Orphanet_98904 |
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Chanarin-Dorfman syndrome
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Orphanet_98907 |
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Dorfman-Chanarin syndrome
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Orphanet_98907 |
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Distal myotilinopathy
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Orphanet_98911 |
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Fisher syndrome
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Orphanet_98919 |
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Colobomatous microphthalmia
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Orphanet_98938 |
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