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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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Hereditary chin-trembling
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Orphanet_53372 |
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Hereditary geniospasm
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Orphanet_53372 |
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Lowe disease
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Orphanet_534 |
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Lowe syndrome
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Orphanet_534 |
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Goldmann-Favre syndrome
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Orphanet_53540 |
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Episodic choreoathetosis/spasticity
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Orphanet_53583 |
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B3GALT6-related spEDS
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Orphanet_536467 |
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Beta3GalT6-deficient EDS
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Orphanet_536467 |
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Spondylodysplastic EDS
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Orphanet_536471 |
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Myopathic EDS
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Orphanet_536516 |
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AEBP1-related EDS
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Orphanet_536532 |
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EDS VI
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Orphanet_536545 |
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Kyphoscoliotic EDS
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Orphanet_536545 |
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Fellman disease
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Orphanet_53693 |
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GRACILE syndrome
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Orphanet_53693 |
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